CleftGeneDB-Search

Gene: FOLR1

Basic information

Tag	Content
Uniprot ID	P15328; Q53EW2; Q6FGT8; Q6LC90; Q9UCT2;
Entrez ID	2348
Genbank protein ID	EAW74848.1; AAB39751.1; CAA44610.1; AAH02947.1; AAA74896.1; AAA35823.1; AAP35822.1; BAD97247.1; CAG46816.1; AAB39752.1; AAA35822.1; AAB05827.1;
Genbank nucleotide ID	NM_016725.2; NM_000802.3; NM_016724.2; NM_016729.2;
Ensembl protein ID	ENSP00000377286; ENSP00000377284; ENSP00000308137; ENSP00000377281;
Ensembl nucleotide ID	ENSG00000110195
Gene name	Folate receptor alpha
Gene symbol	FOLR1
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Binds to folate and reduced folic acid derivatives and mediates delivery of 5-methyltetrahydrofolate and folate analogs into the interior of cells. Has high affinity for folate and folic acid analogs at neutral pH. Exposure to slightly acidic pH after receptor endocytosis triggers a conformation change that strongly reduces its affinity for folates and mediates their release. Required for normal embryonic development and normal cell proliferation.
Sequence	MAQRMTTQLL LLLVWVAVVG EAQTRIAWAR TELLNVCMNA KHHKEKPGPE DKLHEQCRPW 60 RKNACCSTNT SQEAHKDVSY LYRFNWNHCG EMAPACKRHF IQDTCLYECS PNLGPWIQQV 120 DQSWRKERVL NVPLCKEDCE QWWEDCRTSY TCKSNWHKGW NWTSGFNKCA VGAACQPFHF 180 YFPTPTVLCN EIWTHSYKVS NYSRGSGRCI QMWFDPAQGN PNEEVARFYA AAMSGAGPWA 240 AWPFLLSLAL MLLWLLS 257

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

PDB ID
4KM6
4KM7
4KMX
4LRH
5IZQ
4KM6
4KM7
4KMX

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Species	Evidence	Details
1:1 ortholog	FOLR1	2348	P15328		Homo sapiens	Prediction	More>>
1:1 ortholog	Folr1	14275	P35846	CPO,CLP,CLO	Mus musculus	Publication	More>>
1:1 ortholog	FOLR1	451401	A0A2J8PZV0		Pan troglodytes	Prediction	More>>
1:1 ortholog	FOLR1		A0A287BP62		Sus scrofa	Prediction	More>>
1:1 ortholog	FOLR2	100342424	G1SCR2		Oryctolagus cuniculus	Prediction	More>>
1:1 ortholog	Folr1	171049	G3V8M6		Rattus norvegicus	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
RCV000427429	p.Met1Val	missense variant	-	NC_000011.10:g.72192174A>G	ClinVar
rs1269450657	p.Ala2Pro	missense variant	-	NC_000011.10:g.72192177G>C	TOPMed
rs1261674339	p.Gln3Arg	missense variant	-	NC_000011.10:g.72192181A>G	gnomAD
RCV000487548	p.Arg4Gln	missense variant	-	NC_000011.10:g.72192184G>A	ClinVar
rs145380453	p.Arg4Gln	missense variant	-	NC_000011.10:g.72192184G>A	ESP,ExAC,TOPMed,gnomAD
rs145380453	p.Arg4Leu	missense variant	-	NC_000011.10:g.72192184G>T	ESP,ExAC,TOPMed,gnomAD
rs112062510	p.Arg4Trp	missense variant	-	NC_000011.10:g.72192183C>T	ESP,ExAC,TOPMed,gnomAD
RCV000793516	p.Met5Val	missense variant	Cerebral folate deficiency	NC_000011.10:g.72192186A>G	ClinVar
RCV000723894	p.Met5Val	missense variant	-	NC_000011.10:g.72192186A>G	ClinVar
rs529913828	p.Met5Ile	missense variant	-	NC_000011.10:g.72192188G>A	1000Genomes,ExAC,gnomAD
rs371565364	p.Met5Val	missense variant	-	NC_000011.10:g.72192186A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1159477597	p.Thr6Ile	missense variant	-	NC_000011.10:g.72192190C>T	TOPMed,gnomAD
rs770851094	p.Gln8Lys	missense variant	-	NC_000011.10:g.72192195C>A	ExAC,gnomAD
rs943751173	p.Leu11Phe	missense variant	-	NC_000011.10:g.72192204C>T	TOPMed
RCV000596318	p.Leu12Ter	frameshift	-	NC_000011.10:g.72192207del	ClinVar
rs776579195	p.Leu13Pro	missense variant	-	NC_000011.10:g.72192211T>C	ExAC,gnomAD
rs1288175012	p.Val14Ala	missense variant	-	NC_000011.10:g.72192214T>C	gnomAD
rs1379767616	p.Trp15Gly	missense variant	-	NC_000011.10:g.72192216T>G	gnomAD
NCI-TCGA novel	p.Trp15Arg	missense variant	-	NC_000011.10:g.72192216T>C	NCI-TCGA
rs200261943	p.Trp15Cys	missense variant	-	NC_000011.10:g.72192218G>T	1000Genomes,ExAC,TOPMed,gnomAD
RCV000520315	p.Gly20Ala	missense variant	-	NC_000011.10:g.72192232G>C	ClinVar
rs774539100	p.Gly20Arg	missense variant	-	NC_000011.10:g.72192231G>A	ExAC,gnomAD
rs566120497	p.Gly20Ala	missense variant	-	NC_000011.10:g.72192232G>C	1000Genomes,TOPMed
rs566120497	p.Gly20Glu	missense variant	-	NC_000011.10:g.72192232G>A	1000Genomes,TOPMed
rs774539100	p.Gly20Arg	missense variant	-	NC_000011.10:g.72192231G>C	ExAC,gnomAD
rs1240345211	p.Glu21Lys	missense variant	-	NC_000011.10:g.72192234G>A	gnomAD
NCI-TCGA novel	p.Glu21ArgPheSerTerUnkUnk	frameshift	-	NC_000011.10:g.72192231G>-	NCI-TCGA
RCV000716016	p.Ala22Val	missense variant	History of neurodevelopmental disorder	NC_000011.10:g.72192238C>T	ClinVar
COSM458404	p.Gln23Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000011.10:g.72192240C>T	NCI-TCGA Cosmic
rs1038476253	p.Thr24Ile	missense variant	-	NC_000011.10:g.72192244C>T	TOPMed,gnomAD
rs762158226	p.Ala27Gly	missense variant	-	NC_000011.10:g.72192253C>G	ExAC,TOPMed
COSM4560355	p.Trp28Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000011.10:g.72192256G>A	NCI-TCGA Cosmic
rs7928649	p.Trp28Arg	missense variant	-	NC_000011.10:g.72192255T>C	UniProt,dbSNP
VAR_059284	p.Trp28Arg	missense variant	-	NC_000011.10:g.72192255T>C	UniProt
rs7928649	p.Trp28Arg	missense variant	-	NC_000011.10:g.72192255T>C	-
rs1304635865	p.Thr31Ile	missense variant	-	NC_000011.10:g.72192265C>T	TOPMed,gnomAD
rs1304635865	p.Thr31Ser	missense variant	-	NC_000011.10:g.72192265C>G	TOPMed,gnomAD
COSM4920626	p.Glu32Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.72192268A>C	NCI-TCGA Cosmic
rs149216939	p.Asn35Asp	missense variant	-	NC_000011.10:g.72192276A>G	ESP,ExAC,TOPMed,gnomAD
RCV000556042	p.Asn35Asp	missense variant	Cerebral folate deficiency	NC_000011.10:g.72192276A>G	ClinVar
rs1483857647	p.Met38Leu	missense variant	-	NC_000011.10:g.72192285A>C	TOPMed,gnomAD
rs1241611500	p.Met38Ile	missense variant	-	NC_000011.10:g.72192287G>A	gnomAD
rs1483857647	p.Met38Val	missense variant	-	NC_000011.10:g.72192285A>G	TOPMed,gnomAD
rs750562595	p.Met38Lys	missense variant	-	NC_000011.10:g.72192286T>A	ExAC,TOPMed,gnomAD
rs750562595	p.Met38Thr	missense variant	-	NC_000011.10:g.72192286T>C	ExAC,TOPMed,gnomAD
rs1477467941	p.Asn39Tyr	missense variant	-	NC_000011.10:g.72192288A>T	TOPMed
rs766928917	p.Ala40Thr	missense variant	-	NC_000011.10:g.72192291G>A	ExAC,gnomAD
rs754414177	p.His42Tyr	missense variant	-	NC_000011.10:g.72192297C>T	ExAC,TOPMed,gnomAD
rs754414177	p.His42Asn	missense variant	-	NC_000011.10:g.72192297C>A	ExAC,TOPMed,gnomAD
COSM3452975	p.Glu45Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.72192306G>A	NCI-TCGA Cosmic
RCV000647365	p.Pro47Ala	missense variant	Cerebral folate deficiency	NC_000011.10:g.72192312C>G	ClinVar
rs1555068662	p.Pro47Ala	missense variant	-	NC_000011.10:g.72192312C>G	-
rs1470914938	p.Gly48Asp	missense variant	-	NC_000011.10:g.72192316G>A	gnomAD
rs1488460520	p.Glu50Lys	missense variant	-	NC_000011.10:g.72192321G>A	TOPMed
rs777311664	p.Asp51Asn	missense variant	-	NC_000011.10:g.72192324G>A	ExAC,TOPMed,gnomAD
rs1370692247	p.Glu55Lys	missense variant	-	NC_000011.10:g.72192336G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Cys57Ser	missense variant	-	NC_000011.10:g.72195271T>A	NCI-TCGA
rs763735285	p.Arg58Ter	stop gained	-	NC_000011.10:g.72195274C>T	ExAC,gnomAD
rs138575051	p.Arg58Gln	missense variant	-	NC_000011.10:g.72195275G>A	1000Genomes,gnomAD
rs1275551543	p.Pro59Arg	missense variant	-	NC_000011.10:g.72195278C>G	gnomAD
rs751184313	p.Trp60Leu	missense variant	-	NC_000011.10:g.72195281G>T	ExAC,gnomAD
NCI-TCGA novel	p.Trp60Ter	stop gained	-	NC_000011.10:g.72195282G>A	NCI-TCGA
COSM1322190	p.Ala64Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.72195292G>A	NCI-TCGA Cosmic
rs1365926784	p.Ala64Asp	missense variant	-	NC_000011.10:g.72195293C>A	TOPMed
RCV000493078	p.Ala64Ser	missense variant	-	NC_000011.10:g.72195292G>T	ClinVar
rs1131691637	p.Ala64Ser	missense variant	-	NC_000011.10:g.72195292G>T	gnomAD
rs1247541422	p.Cys65Trp	missense variant	-	NC_000011.10:g.72195297C>G	gnomAD
rs1335969248	p.Cys65Tyr	missense variant	-	NC_000011.10:g.72195296G>A	TOPMed
rs779015471	p.Cys66Tyr	missense variant	-	NC_000011.10:g.72195299G>A	ExAC,gnomAD
rs780742785	p.Asn69Asp	missense variant	-	NC_000011.10:g.72195307A>G	ExAC,TOPMed,gnomAD
RCV000723981	p.Gln72Arg	missense variant	-	NC_000011.10:g.72195317A>G	ClinVar
rs148345688	p.Gln72Arg	missense variant	-	NC_000011.10:g.72195317A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs756090881	p.Gln72His	missense variant	-	NC_000011.10:g.72195318G>T	ExAC
NCI-TCGA novel	p.Glu73Ala	missense variant	-	NC_000011.10:g.72195320A>C	NCI-TCGA
rs779986083	p.Ala74Thr	missense variant	-	NC_000011.10:g.72195322G>A	ExAC,gnomAD
rs749048689	p.His75Gln	missense variant	-	NC_000011.10:g.72195327T>A	ExAC,gnomAD
COSM3452977	p.Asp77Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.72195331G>A	NCI-TCGA Cosmic
rs1417053720	p.Val78Ile	missense variant	-	NC_000011.10:g.72195334G>A	gnomAD
rs950917027	p.Tyr82His	missense variant	-	NC_000011.10:g.72195346T>C	TOPMed,gnomAD
rs1005890697	p.Phe84Leu	missense variant	-	NC_000011.10:g.72195354C>A	TOPMed
rs1409176806	p.Trp86Arg	missense variant	-	NC_000011.10:g.72195358T>C	gnomAD
RCV000533599	p.Trp86Ter	nonsense	Cerebral folate deficiency	NC_000011.10:g.72195359G>A	ClinVar
rs1555069069	p.Trp86Ter	stop gained	-	NC_000011.10:g.72195359G>A	-
rs1367019932	p.His88Tyr	missense variant	-	NC_000011.10:g.72195364C>T	gnomAD
rs773474550	p.His88Leu	missense variant	-	NC_000011.10:g.72195365A>T	ExAC,TOPMed,gnomAD
COSM3452978	p.Gly90Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.72195370G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Glu91Val	missense variant	-	NC_000011.10:g.72195374A>T	NCI-TCGA
rs771104939	p.Met92Val	missense variant	-	NC_000011.10:g.72195376A>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala93Thr	missense variant	-	NC_000011.10:g.72195379G>A	NCI-TCGA
RCV000187418	p.Pro94Arg	missense variant	-	NC_000011.10:g.72195383C>G	ClinVar
RCV000716070	p.Pro94Arg	missense variant	History of neurodevelopmental disorder	NC_000011.10:g.72195383C>G	ClinVar
rs759712157	p.Pro94Arg	missense variant	-	NC_000011.10:g.72195383C>G	ExAC,TOPMed,gnomAD
COSM3416211	p.Cys96Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000011.10:g.72195390C>A	NCI-TCGA Cosmic
rs1057518816	p.Cys96Tyr	missense variant	-	NC_000011.10:g.72195389G>A	-
RCV000415252	p.Cys96Tyr	missense variant	-	NC_000011.10:g.72195389G>A	ClinVar
NCI-TCGA novel	p.Cys96Ser	missense variant	-	NC_000011.10:g.72195389G>C	NCI-TCGA
rs775864895	p.Lys97Asn	missense variant	-	NC_000011.10:g.72195393A>T	ExAC,gnomAD
rs76191655	p.Arg98Trp	missense variant	-	NC_000011.10:g.72195394C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000487848	p.Arg98Trp	missense variant	-	NC_000011.10:g.72195394C>T	ClinVar
rs764420714	p.Arg98Gln	missense variant	-	NC_000011.10:g.72195395G>A	ExAC,gnomAD
NCI-TCGA novel	p.Asp103Asn	missense variant	-	NC_000011.10:g.72195409G>A	NCI-TCGA
rs751220498	p.Asp103Ala	missense variant	-	NC_000011.10:g.72195410A>C	ExAC
rs756942461	p.Thr104Pro	missense variant	-	NC_000011.10:g.72195412A>C	ExAC,gnomAD
rs766989831	p.Thr104Asn	missense variant	-	NC_000011.10:g.72195413C>A	ExAC,gnomAD
RCV000376883	p.Cys105Phe	missense variant	-	NC_000011.10:g.72195416G>T	ClinVar
rs755627957	p.Cys105Phe	missense variant	-	NC_000011.10:g.72195416G>T	ExAC,gnomAD
rs1386926475	p.Leu106Pro	missense variant	-	NC_000011.10:g.72195419T>C	gnomAD
rs145674759	p.Tyr107Ter	stop gained	-	NC_000011.10:g.72195423C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000524015	p.Glu108Lys	missense variant	-	NC_000011.10:g.72195424G>A	ClinVar
rs1555069113	p.Glu108Lys	missense variant	-	NC_000011.10:g.72195424G>A	-
rs1325172613	p.Asn112Ser	missense variant	-	NC_000011.10:g.72195437A>G	gnomAD
RCV000623117	p.Asn112Ser	missense variant	Inborn genetic diseases	NC_000011.10:g.72195437A>G	ClinVar
rs749242260	p.Pro115Ser	missense variant	-	NC_000011.10:g.72195445C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Trp116Ter	stop gained	-	NC_000011.10:g.72195450G>A	NCI-TCGA
rs121918405	p.Gln118Ter	stop gained	-	NC_000011.10:g.72195454C>T	gnomAD
RCV000017643	p.Gln118Ter	nonsense	Cerebral folate deficiency	NC_000011.10:g.72195454C>T	ClinVar
RCV000725453	p.Gln118Ter	nonsense	-	NC_000011.10:g.72195454C>T	ClinVar
NCI-TCGA novel	p.Gln122Ter	stop gained	-	NC_000011.10:g.72195618C>T	NCI-TCGA
rs886568002	p.Ser123Asn	missense variant	-	NC_000011.10:g.72195622G>A	TOPMed
rs1264956352	p.Trp124Arg	missense variant	-	NC_000011.10:g.72195624T>C	gnomAD
rs752503322	p.Arg125Cys	missense variant	-	NC_000011.10:g.72195627C>T	ExAC,TOPMed,gnomAD
rs1202769307	p.Arg125His	missense variant	-	NC_000011.10:g.72195628G>A	gnomAD
rs138331534	p.Glu127Lys	missense variant	-	NC_000011.10:g.72195633G>A	ESP,TOPMed
rs964480401	p.Glu127Gly	missense variant	-	NC_000011.10:g.72195634A>G	TOPMed,gnomAD
NCI-TCGA novel	p.Arg128Leu	missense variant	-	NC_000011.10:g.72195637G>T	NCI-TCGA
rs200728335	p.Arg128Trp	missense variant	-	NC_000011.10:g.72195636C>T	1000Genomes,ExAC,gnomAD
rs996350831	p.Arg128Gln	missense variant	-	NC_000011.10:g.72195637G>A	TOPMed
rs142717163	p.Val129Ile	missense variant	-	NC_000011.10:g.72195639G>A	ESP,ExAC,gnomAD
COSM931655	p.Leu130Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.72195642C>A	NCI-TCGA Cosmic
rs1177732628	p.Leu130Arg	missense variant	-	NC_000011.10:g.72195643T>G	gnomAD
rs1029995293	p.Asn131Asp	missense variant	-	NC_000011.10:g.72195645A>G	TOPMed,gnomAD
rs749779274	p.Val132Leu	missense variant	-	NC_000011.10:g.72195648G>C	ExAC,TOPMed,gnomAD
rs749779274	p.Val132Met	missense variant	-	NC_000011.10:g.72195648G>A	ExAC,TOPMed,gnomAD
rs774868210	p.Cys135Arg	missense variant	-	NC_000011.10:g.72195657T>C	ExAC,gnomAD
NCI-TCGA novel	p.Lys136ArgPheSerTerUnk	frameshift	-	NC_000011.10:g.72195660_72195661AA>-	NCI-TCGA
rs762109657	p.Glu137Lys	missense variant	-	NC_000011.10:g.72195663G>A	ExAC,gnomAD
rs796052441	p.Glu137Asp	missense variant	-	NC_000011.10:g.72195665G>C	TOPMed,gnomAD
RCV000187420	p.Asp138Asn	missense variant	-	NC_000011.10:g.72195666G>A	ClinVar
rs796052442	p.Asp138Asn	missense variant	-	NC_000011.10:g.72195666G>A	-
rs772484521	p.Cys139Gly	missense variant	-	NC_000011.10:g.72195669T>G	ExAC,gnomAD
rs772848165	p.Trp142Ter	stop gained	-	NC_000011.10:g.72195679G>A	ExAC
NCI-TCGA novel	p.Glu144Lys	missense variant	-	NC_000011.10:g.72195684G>A	NCI-TCGA
rs1224242224	p.Asp145Gly	missense variant	-	NC_000011.10:g.72195688A>G	gnomAD
rs765895524	p.Cys146Ter	stop gained	-	NC_000011.10:g.72195692T>A	ExAC,TOPMed,gnomAD
rs1222897077	p.Arg147Cys	missense variant	-	NC_000011.10:g.72195693C>T	TOPMed,gnomAD
rs752405847	p.Arg147ArgTerAspArgValLeuLeuLeuLeuProArgValGluCysSerGlyUnk	stop gained	-	NC_000011.10:g.72195695_72195696insTGAGATAGAGTTTTGCTCTTGTTGCCCAGGGTGGAGTGCAGTGGCAC	ExAC
rs753241819	p.Arg147His	missense variant	-	NC_000011.10:g.72195694G>A	ExAC,TOPMed,gnomAD
rs765019885	p.Thr151Ala	missense variant	-	NC_000011.10:g.72195705A>G	ExAC,TOPMed,gnomAD
rs1393300891	p.Lys153Asn	missense variant	-	NC_000011.10:g.72195713G>C	TOPMed,gnomAD
rs1438180550	p.Ser154Arg	missense variant	-	NC_000011.10:g.72195714A>C	TOPMed,gnomAD
rs1438051120	p.Asn155Asp	missense variant	-	NC_000011.10:g.72195717A>G	TOPMed
rs149320230	p.Trp156Gly	missense variant	-	NC_000011.10:g.72195720T>G	ExAC,TOPMed,gnomAD
rs750638602	p.Lys158Asn	missense variant	-	NC_000011.10:g.72195728G>C	ExAC,gnomAD
NCI-TCGA novel	p.Thr163ValGlyGlnAlaGlyLeuGluLeuLeuThr	insertion	-	NC_000011.10:g.72195743_72195744insGTTGGCCAGGCTGGTCTCGAACTCCTCACC	NCI-TCGA
NCI-TCGA novel	p.Ser164ProPheSerTerUnk	frameshift	-	NC_000011.10:g.72195742_72195743insACCA	NCI-TCGA
rs913171756	p.Gly165Trp	missense variant	-	NC_000011.10:g.72195747G>T	TOPMed
rs766443612	p.Gly165Val	missense variant	-	NC_000011.10:g.72195897G>T	ExAC,gnomAD
rs200076509	p.Cys169Tyr	missense variant	-	NC_000011.10:g.72195909G>A	ExAC,TOPMed,gnomAD
RCV000718474	p.Ala170Thr	missense variant	History of neurodevelopmental disorder	NC_000011.10:g.72195911G>A	ClinVar
rs139633601	p.Ala170Thr	missense variant	-	NC_000011.10:g.72195911G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000725204	p.Ala170Thr	missense variant	-	NC_000011.10:g.72195911G>A	ClinVar
rs758857268	p.Val171Leu	missense variant	-	NC_000011.10:g.72195914G>T	ExAC,gnomAD
rs778286900	p.Gly172Ter	stop gained	-	NC_000011.10:g.72195917G>T	ExAC,gnomAD
rs1247646105	p.Gly172Val	missense variant	-	NC_000011.10:g.72195918G>T	gnomAD
rs778286900	p.Gly172Arg	missense variant	-	NC_000011.10:g.72195917G>A	ExAC,gnomAD
NCI-TCGA novel	p.Ala173Thr	missense variant	-	NC_000011.10:g.72195920G>A	NCI-TCGA
rs771341970	p.Ala173Asp	missense variant	-	NC_000011.10:g.72195921C>A	ExAC,gnomAD
rs745598432	p.Ala174Pro	missense variant	-	NC_000011.10:g.72195923G>C	ExAC,gnomAD
rs121918406	p.Cys175Ter	stop gained	-	NC_000011.10:g.72195928C>A	ExAC,TOPMed,gnomAD
RCV000017644	p.Cys175Ter	nonsense	Cerebral folate deficiency	NC_000011.10:g.72195928C>A	ClinVar
NCI-TCGA novel	p.Pro177His	missense variant	-	NC_000011.10:g.72195933C>A	NCI-TCGA
rs1475933334	p.His179Tyr	missense variant	-	NC_000011.10:g.72195938C>T	gnomAD
rs1235524247	p.Phe180Ser	missense variant	-	NC_000011.10:g.72195942T>C	TOPMed
rs1185288244	p.Tyr181Cys	missense variant	-	NC_000011.10:g.72195945A>G	gnomAD
rs762574089	p.Phe182Leu	missense variant	-	NC_000011.10:g.72195949C>A	ExAC,TOPMed,gnomAD
COSM3870144	p.Pro183Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.72195950C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Pro183His	missense variant	-	NC_000011.10:g.72195951C>A	NCI-TCGA
rs764082504	p.Leu188Val	missense variant	-	NC_000011.10:g.72195965C>G	ExAC,gnomAD
rs1383584072	p.Asn190Ser	missense variant	-	NC_000011.10:g.72195972A>G	gnomAD
COSM74691	p.Glu191Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.72195974G>A	NCI-TCGA Cosmic
rs200414084	p.Glu191Asp	missense variant	-	NC_000011.10:g.72195976A>T	ExAC,TOPMed,gnomAD
rs375913176	p.Thr194Ser	missense variant	-	NC_000011.10:g.72195983A>T	ESP,ExAC,gnomAD
rs753977934	p.His195Tyr	missense variant	-	NC_000011.10:g.72195986C>T	ExAC,TOPMed,gnomAD
rs753977934	p.His195Asn	missense variant	-	NC_000011.10:g.72195986C>A	ExAC,TOPMed,gnomAD
rs1165021874	p.Tyr197Cys	missense variant	-	NC_000011.10:g.72195993A>G	gnomAD
rs765467626	p.Lys198Arg	missense variant	-	NC_000011.10:g.72195996A>G	ExAC,gnomAD
rs1454406848	p.Ser200Asn	missense variant	-	NC_000011.10:g.72196002G>A	gnomAD
rs1026331856	p.Asn201Tyr	missense variant	-	NC_000011.10:g.72196004A>T	TOPMed,gnomAD
RCV000494464	p.Arg204Ter	nonsense	-	NC_000011.10:g.72196013C>T	ClinVar
rs952165627	p.Arg204Ter	stop gained	-	NC_000011.10:g.72196013C>T	-
rs377725668	p.Arg204Gln	missense variant	-	NC_000011.10:g.72196014G>A	ESP,ExAC,TOPMed,gnomAD
rs985046746	p.Gly205Glu	missense variant	-	NC_000011.10:g.72196017G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Gly205Trp	missense variant	-	NC_000011.10:g.72196016G>T	NCI-TCGA
COSM4036446	p.Gly207Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.72196022G>A	NCI-TCGA Cosmic
rs145250531	p.Arg208His	missense variant	-	NC_000011.10:g.72196026G>A	ESP,ExAC,TOPMed,gnomAD
rs1314623649	p.Arg208Cys	missense variant	-	NC_000011.10:g.72196025C>T	gnomAD
rs747612073	p.Gln211His	missense variant	-	NC_000011.10:g.72196036G>C	ExAC,gnomAD
rs757554598	p.Trp213Cys	missense variant	-	NC_000011.10:g.72196042G>C	ExAC,gnomAD
rs1241745334	p.Pro216Leu	missense variant	-	NC_000011.10:g.72196050C>T	TOPMed,gnomAD
rs890104508	p.Asn220Lys	missense variant	-	NC_000011.10:g.72196063C>A	TOPMed
rs781647545	p.Pro221His	missense variant	-	NC_000011.10:g.72196065C>A	ExAC,gnomAD
rs745483690	p.Asn222Ser	missense variant	-	NC_000011.10:g.72196068A>G	ExAC,gnomAD
RCV000701256	p.Glu223Lys	missense variant	Cerebral folate deficiency	NC_000011.10:g.72196070G>A	ClinVar
COSM1475875	p.Glu223Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.72196071A>T	NCI-TCGA Cosmic
rs769520814	p.Glu223Ala	missense variant	-	NC_000011.10:g.72196071A>C	ExAC,TOPMed,gnomAD
rs769520814	p.Glu223Gly	missense variant	-	NC_000011.10:g.72196071A>G	ExAC,TOPMed,gnomAD
rs779884094	p.Glu224Lys	missense variant	-	NC_000011.10:g.72196073G>A	ExAC,gnomAD
NCI-TCGA novel	p.Ala226Gly	missense variant	-	NC_000011.10:g.72196080C>G	NCI-TCGA
rs1158285428	p.Ala226Thr	missense variant	-	NC_000011.10:g.72196079G>A	gnomAD
rs371399726	p.Ala226Val	missense variant	-	NC_000011.10:g.72196080C>T	ESP,ExAC,TOPMed,gnomAD
rs774152850	p.Phe228Leu	missense variant	-	NC_000011.10:g.72196085T>C	ExAC,gnomAD
rs1358361643	p.Tyr229Cys	missense variant	-	NC_000011.10:g.72196089A>G	gnomAD
rs1555069289	p.Ala231Val	missense variant	-	NC_000011.10:g.72196095C>T	-
rs761852124	p.Ala231Thr	missense variant	-	NC_000011.10:g.72196094G>A	ExAC,gnomAD
RCV000534074	p.Ala231Val	missense variant	Cerebral folate deficiency	NC_000011.10:g.72196095C>T	ClinVar
RCV000187422	p.Ala232Thr	missense variant	-	NC_000011.10:g.72196097G>A	ClinVar
rs796052443	p.Ala232Thr	missense variant	-	NC_000011.10:g.72196097G>A	-
rs543710765	p.Ala232Val	missense variant	-	NC_000011.10:g.72196098C>T	1000Genomes,ExAC,gnomAD
rs773012171	p.Met233Val	missense variant	-	NC_000011.10:g.72196100A>G	ExAC,gnomAD
rs773012171	p.Met233Leu	missense variant	-	NC_000011.10:g.72196100A>C	ExAC,gnomAD
rs1283420229	p.Met233Thr	missense variant	-	NC_000011.10:g.72196101T>C	gnomAD
rs773012171	p.Met233Leu	missense variant	-	NC_000011.10:g.72196100A>T	ExAC,gnomAD
rs760498273	p.Gly235Trp	missense variant	-	NC_000011.10:g.72196106G>T	ExAC,gnomAD
NCI-TCGA novel	p.Ala236Thr	missense variant	-	NC_000011.10:g.72196109G>A	NCI-TCGA
rs1411513056	p.Gly237Trp	missense variant	-	NC_000011.10:g.72196112G>T	TOPMed
COSM4931220	p.Trp239Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.72196118T>A	NCI-TCGA Cosmic
COSM3452984	p.Trp239Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000011.10:g.72196120G>A	NCI-TCGA Cosmic
rs1225961772	p.Trp239Arg	missense variant	-	NC_000011.10:g.72196118T>C	gnomAD
rs147155003	p.Ala240Val	missense variant	-	NC_000011.10:g.72196122C>T	ESP,ExAC,TOPMed,gnomAD
RCV000647363	p.Ala240Val	missense variant	Cerebral folate deficiency	NC_000011.10:g.72196122C>T	ClinVar
RCV000724733	p.Ala240Val	missense variant	-	NC_000011.10:g.72196122C>T	ClinVar
RCV000647364	p.Trp242Arg	missense variant	Cerebral folate deficiency	NC_000011.10:g.72196127T>A	ClinVar
RCV000187424	p.Trp242Arg	missense variant	-	NC_000011.10:g.72196127T>A	ClinVar
RCV000551259	p.Trp242Ter	nonsense	Cerebral folate deficiency	NC_000011.10:g.72196129G>A	ClinVar
rs752932113	p.Trp242Cys	missense variant	-	NC_000011.10:g.72196129G>C	ExAC,TOPMed,gnomAD
rs796052445	p.Trp242Arg	missense variant	-	NC_000011.10:g.72196127T>A	TOPMed,gnomAD
rs752932113	p.Trp242Ter	stop gained	-	NC_000011.10:g.72196129G>A	ExAC,TOPMed,gnomAD
rs1479805229	p.Pro243Arg	missense variant	-	NC_000011.10:g.72196131C>G	gnomAD
rs1234847513	p.Pro243Ser	missense variant	-	NC_000011.10:g.72196130C>T	gnomAD
rs1181528047	p.Phe244Leu	missense variant	-	NC_000011.10:g.72196133T>C	gnomAD
rs1481377477	p.Leu245Arg	missense variant	-	NC_000011.10:g.72196137T>G	gnomAD
rs1274741193	p.Ser247Arg	missense variant	-	NC_000011.10:g.72196142A>C	TOPMed
NCI-TCGA novel	p.Ala249Ser	missense variant	-	NC_000011.10:g.72196148G>T	NCI-TCGA
rs1410352089	p.Met251Thr	missense variant	-	NC_000011.10:g.72196155T>C	gnomAD
rs1034180699	p.Trp254Cys	missense variant	-	NC_000011.10:g.72196165G>T	TOPMed
NCI-TCGA novel	p.Leu255Met	missense variant	-	NC_000011.10:g.72196166C>A	NCI-TCGA

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0000768	Congenital Abnormality	group	CTD_human
C0001418	Adenocarcinoma	group	BEFREE;LHGDN
C0001973	Alcoholic Intoxication, Chronic	disease	PSYGENET
C0004138	Ataxias, Hereditary	group	GENOMICS_ENGLAND
C0006111	Brain Diseases	group	BEFREE
C0006142	Malignant neoplasm of breast	disease	BEFREE
C0006826	Malignant Neoplasms	group	BEFREE
C0007102	Malignant tumor of colon	disease	CTD_human
C0007131	Non-Small Cell Lung Carcinoma	disease	BEFREE
C0007137	Squamous cell carcinoma	disease	BEFREE
C0007847	Malignant tumor of cervix	disease	BEFREE
C0009375	Colonic Neoplasms	group	CTD_human
C0009402	Colorectal Carcinoma	disease	BEFREE
C0009404	Colorectal Neoplasms	group	BEFREE
C0011999	Diastematomyelia	disease	CTD_human
C0014544	Epilepsy	disease	CTD_human;HPO
C0014550	Myoclonic Epilepsy	disease	BEFREE
C0018798	Congenital Heart Defects	group	CTD_human
C0020796	Profound Mental Retardation	disease	CTD_human
C0023418	leukemia	disease	LHGDN
C0023467	Leukemia, Myelocytic, Acute	disease	LHGDN
C0023520	Leukodystrophy	disease	GENOMICS_ENGLAND
C0023903	Liver neoplasms	group	BEFREE
C0025149	Medulloblastoma	disease	BEFREE
C0025202	melanoma	disease	BEFREE
C0025362	Mental Retardation	disease	HPO
C0025363	Mental Retardation, Psychosocial	disease	CTD_human
C0025500	Mesothelioma	disease	BEFREE
C0026650	Movement Disorders	group	CTD_human
C0026764	Multiple Myeloma	disease	BEFREE
C0027404	Narcolepsy	disease	GWASDB
C0027627	Neoplasm Metastasis	phenotype	BEFREE
C0027651	Neoplasms	group	BEFREE
C0027746	Nerve Degeneration	phenotype	HPO
C0027794	Neural Tube Defects	group	BEFREE;CTD_human
C0027806	Neurenteric Cyst	disease	CTD_human
C0029463	Osteosarcoma	disease	BEFREE;CTD_human
C0029925	Ovarian Carcinoma	disease	BEFREE
C0031117	Peripheral Neuropathy	group	BEFREE
C0032000	Pituitary Adenoma	disease	BEFREE
C0032019	Pituitary Neoplasms	group	BEFREE
C0033922	Psychomotor Disorders	group	CTD_human
C0035372	Rett Syndrome	disease	BEFREE
C0036572	Seizures	phenotype	HPO
C0038356	Stomach Neoplasms	group	LHGDN
C0080178	Spina Bifida	disease	BEFREE
C0080218	Tethered Cord Syndrome	disease	CTD_human
C0086237	Epilepsy, Cryptogenic	disease	CTD_human
C0086942	Rous Sarcoma	disease	BEFREE
C0152013	Adenocarcinoma of lung (disorder)	disease	BEFREE
C0152234	Iniencephaly	disease	CTD_human
C0152426	Craniorachischisis	disease	CTD_human
C0153567	Uterine Cancer	disease	BEFREE
C0178874	Tumor Progression	phenotype	BEFREE
C0206701	Cystadenocarcinoma, Serous	disease	BEFREE
C0235031	Neurologic Symptoms	group	BEFREE
C0236018	Aura	phenotype	CTD_human
C0242379	Malignant neoplasm of lung	disease	BEFREE
C0266453	Exencephaly	disease	CTD_human
C0266487	Etat Marbre	disease	CTD_human
C0266999	Vesicular Stomatitis	disease	BEFREE
C0278510	Childhood Medulloblastoma	disease	BEFREE
C0278689	Ovarian epithelial cancer recurrent	disease	BEFREE
C0278876	Adult Medulloblastoma	disease	BEFREE
C0280100	Solid Neoplasm	phenotype	BEFREE
C0282687	Hemorrhagic Fever, Ebola	disease	BEFREE
C0302592	Cervix carcinoma	disease	BEFREE
C0342705	Folate Malabsorption, Hereditary	disease	BEFREE
C0344479	Spinal Cord Myelodysplasia	disease	CTD_human
C0345967	Malignant mesothelioma	disease	BEFREE
C0376634	Craniofacial Abnormalities	group	CTD_human
C0393525	Progressive cerebellar ataxia	disease	BEFREE
C0423903	Low intelligence	phenotype	HPO
C0524851	Neurodegenerative Disorders	group	BEFREE;HPO
C0543888	Epileptic encephalopathy	disease	CLINVAR;GENOMICS_ENGLAND
C0585442	Osteosarcoma of bone	disease	BEFREE
C0596263	Carcinogenesis	phenotype	BEFREE
C0598608	Hyperhomocysteinemia	disease	LHGDN
C0677886	Epithelial ovarian cancer	disease	BEFREE
C0678222	Breast Carcinoma	disease	BEFREE
C0679465	Psychomotor Impairment	phenotype	CTD_human
C0684249	Carcinoma of lung	disease	BEFREE
C0702169	Acrania	disease	CTD_human
C0751111	Awakening Epilepsy	disease	CTD_human
C0751456	Developmental Psychomotor Disorders	disease	CTD_human
C0752107	Brain Diseases, Metabolic, Inherited	disease	CTD_human
C0752109	Brain Diseases, Metabolic, Inborn	group	CTD_human
C0752110	Central Nervous System Inborn Metabolic Diseases	disease	CTD_human
C0812413	Malignant Pleural Mesothelioma	disease	BEFREE
C0854988	Adenocarcinoma of lung, stage IV	disease	BEFREE
C0917816	Mental deficiency	disease	CTD_human;HPO
C0919267	ovarian neoplasm	disease	BEFREE;CTD_human
C1140680	Malignant neoplasm of ovary	disease	BEFREE;CTD_human
C1306460	Primary malignant neoplasm of lung	disease	BEFREE
C1458155	Mammary Neoplasms	group	BEFREE;LHGDN
C1527249	Colorectal Cancer	disease	BEFREE
C1562113	Fleck corneal dystrophy	disease	BEFREE
C1836550	Loss of developmental milestones	phenotype	HPO
C1836830	Developmental regression	disease	BEFREE;HPO
C1843367	Poor school performance	phenotype	HPO
C1850493	Psychomotor regression, progressive	phenotype	HPO
C1853144	Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia	disease	BEFREE
C1855009	Psychomotor regression in infants	phenotype	HPO
C1855019	Psychomotor regression	phenotype	HPO
C1855996	Psychomotor regression beginning in infancy	phenotype	HPO
C1857121	Neurodevelopmental regression	phenotype	HPO
C1859678	Mental deterioration in childhood	phenotype	HPO
C2239176	Liver carcinoma	disease	BEFREE
C2751584	Neurodegeneration Due To Cerebral Folate Transport Deficiency	phenotype	BEFREE;CLINGEN;CLINVAR;CTD_human;GENOMICS_ENGLAND;ORPHANET
C2931822	Nasopharyngeal carcinoma	disease	BEFREE
C3714756	Intellectual Disability	group	CTD_human;GENOMICS_ENGLAND;HPO
C4020854	Neuro-degenerative disease	disease	HPO
C4020876	Dull intelligence	phenotype	HPO
C4048328	cervical cancer	disease	BEFREE

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0005542	folic acid binding	IDA
GO:0005542	folic acid binding	NAS
GO:0008144	drug binding	IPI
GO:0038023	signaling receptor activity	IBA
GO:0051870	methotrexate binding	IDA
GO:0061714	folic acid receptor activity	IC
GO:0061714	folic acid receptor activity	IMP

GO:Biological Process

GO ID	GO Term	Evidence
GO:0001947	heart looping	ISS
GO:0003147	neural crest cell migration involved in heart formation	ISS
GO:0003253	cardiac neural crest cell migration involved in outflow tract morphogenesis	ISS
GO:0006888	endoplasmic reticulum to Golgi vesicle-mediated transport	TAS
GO:0006898	receptor-mediated endocytosis	TAS
GO:0015884	folic acid transport	IMP
GO:0017015	regulation of transforming growth factor beta receptor signaling pathway	ISS
GO:0031103	axon regeneration	ISS
GO:0046655	folic acid metabolic process	IEA
GO:0048208	COPII vesicle coating	TAS
GO:0060828	regulation of canonical Wnt signaling pathway	ISS
GO:0061626	pharyngeal arch artery morphogenesis	ISS
GO:0061713	anterior neural tube closure	ISS
GO:0071231	cellular response to folic acid	IDA
GO:1904447	folate import across plasma membrane	IEA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0000139	Golgi membrane	TAS
GO:0005634	nucleus	IDA
GO:0005768	endosome	IEA
GO:0005789	endoplasmic reticulum membrane	TAS
GO:0005886	plasma membrane	NAS
GO:0009986	cell surface	HDA
GO:0012507	ER to Golgi transport vesicle membrane	TAS
GO:0016020	membrane	TAS
GO:0016323	basolateral plasma membrane	IDA
GO:0016324	apical plasma membrane	IDA
GO:0030133	transport vesicle	TAS
GO:0030136	clathrin-coated vesicle	IEA
GO:0031362	anchored component of external side of plasma membrane	IBA
GO:0031362	anchored component of external side of plasma membrane	IDA
GO:0031526	brush border membrane	IEA
GO:0033116	endoplasmic reticulum-Golgi intermediate compartment membrane	TAS
GO:0070062	extracellular exosome	HDA

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-199977	ER to Golgi Anterograde Transport	TAS
R-HSA-199991	Membrane Trafficking	TAS
R-HSA-204005	COPII-mediated vesicle transport	TAS
R-HSA-392499	Metabolism of proteins	TAS
R-HSA-446203	Asparagine N-linked glycosylation	TAS
R-HSA-5653656	Vesicle-mediated transport	TAS
R-HSA-5694530	Cargo concentration in the ER	TAS
R-HSA-597592	Post-translational protein modification	TAS
R-HSA-6807878	COPI-mediated anterograde transport	TAS
R-HSA-948021	Transport to the Golgi and subsequent modification	TAS

Drugs and compounds information

ID	Drug Name	Action	PubMed
C495626	14-deoxy-11,12-didehydroandrographolide	14-deoxy-11,12-didehydroandrographolide results in increased expression of FOLR1 mRNA	22101062
C029790	2,2',3',4,4',5-hexachlorobiphenyl	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in decreased expression of FOLR1 mRNA	25510870
C111118	2',3,3',4',5-pentachloro-4-hydroxybiphenyl	2',3,3',4',5-pentachloro-4-hydroxybiphenyl results in decreased expression of FOLR1 mRNA	19114083
C070055	2,3',4,4',5-pentachlorobiphenyl	2,3',4,4',5-pentachlorobiphenyl results in increased expression of FOLR1 mRNA	31388691
C081766	2,4,4'-trichlorobiphenyl	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in decreased expression of FOLR1 mRNA	25510870
C014024	2,4,5,2',4',5'-hexachlorobiphenyl	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in decreased expression of FOLR1 mRNA	25510870
C009828	2,4,5,2',5'-pentachlorobiphenyl	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in decreased expression of FOLR1 mRNA	25510870
C009407	2,5,2',5'-tetrachlorobiphenyl	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in decreased expression of FOLR1 mRNA	25510870
C006551	2-amino-2-methyl-1-propanol	2-amino-2-methyl-1-propanol results in decreased expression of FOLR1 mRNA	25088246
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of FOLR1 mRNA	27188386
C005984	5-methyltetrahydrofolate	FOLR1 protein results in increased uptake of 5-methyltetrahydrofolate	17473184
C496492	abrine	abrine results in increased expression of FOLR1 mRNA	22595364
D000082	Acetaminophen	Acetaminophen affects the expression of FOLR1 mRNA	25064622
D000082	Acetaminophen	Acetaminophen results in decreased expression of FOLR1 mRNA	29067470
D000452	Aldrin	Aldrin results in increased expression of FOLR1 mRNA	18579281
D000517	alpha-Chlorohydrin	alpha-Chlorohydrin results in increased expression of FOLR1 mRNA	28522335
D000638	Amiodarone	Amiodarone affects the expression of FOLR1 mRNA	25064622
D000643	Ammonium Chloride	Ammonium Chloride affects the expression of FOLR1 mRNA	16483693
D001280	Atrazine	Atrazine results in increased expression of FOLR1 mRNA	22378314
D001397	Azoxymethane	FOLR1 gene mutant form results in increased susceptibility to Azoxymethane	15705887
C487081	belinostat	belinostat results in decreased expression of FOLR1 mRNA	27188386
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in increased expression of FOLR1 mRNA	27195522
C504662	BGC945	BGC945 binds to FOLR1 protein	16357184
C004541	biochanin A	biochanin A results in decreased expression of FOLR1 mRNA	12111696
C543008	bis(4-hydroxyphenyl)sulfone	bis(4-hydroxyphenyl)sulfone results in increased expression of FOLR1 mRNA	30951980
C006780	bisphenol A	bisphenol A results in decreased expression of FOLR1 mRNA	19371625
C006780	bisphenol A	bisphenol A results in decreased expression of FOLR1 mRNA	30245210
C006780	bisphenol A	bisphenol A results in increased expression of FOLR1 mRNA	30951980
C006780	bisphenol A	bisphenol A results in increased expression of FOLR1 mRNA	25181051
C000611646	bisphenol F	bisphenol F results in increased expression of FOLR1 mRNA	30951980
D000069286	Bortezomib	Bortezomib results in decreased expression of FOLR1 mRNA	20977926
D002251	Carbon Tetrachloride	Carbon Tetrachloride affects the expression of FOLR1 mRNA	17484886
D002746	Chlorpromazine	Chlorpromazine affects the expression of FOLR1 mRNA	25064622
D002922	Ciguatoxins	Ciguatoxins affects the expression of FOLR1 mRNA	18353800
D003300	Copper	[ATP7A gene mutant form results in increased abundance of Copper] which results in increased expression of FOLR1 mRNA	15467011
D003471	Cuprizone	Cuprizone results in increased expression of FOLR1 mRNA	26577399; 27523638;
D016572	Cyclosporine	Cyclosporine affects the expression of FOLR1 mRNA	25064622
D016572	Cyclosporine	Cyclosporine results in decreased expression of FOLR1 mRNA	20106945; 27989131;
C042577	diallyl trisulfide	diallyl trisulfide results in increased expression of FOLR1 mRNA	11925593
D003976	Diazinon	Diazinon results in decreased expression of FOLR1 mRNA	29108742
D003993	Dibutyl Phthalate	Dibutyl Phthalate results in decreased expression of FOLR1 mRNA	21266533
D004054	Diethylstilbestrol	Diethylstilbestrol results in decreased expression of FOLR1 mRNA	19371625
C516138	dorsomorphin	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of FOLR1 mRNA	27188386
D004317	Doxorubicin	Doxorubicin results in decreased expression of FOLR1 mRNA	16404146
D004317	Doxorubicin	FOLR1 protein results in decreased susceptibility to Doxorubicin	15634643
D004958	Estradiol	[Estradiol co-treated with Progesterone] results in increased expression of FOLR1 mRNA	20660070
D004958	Estradiol	[Estradiol co-treated with Tetrachlorodibenzodioxin] results in increased expression of FOLR1 mRNA	19619570
D004958	Estradiol	[Estradiol co-treated with TGFB1 protein] results in decreased expression of FOLR1 mRNA	30165855
D004958	Estradiol	Estradiol results in increased expression of FOLR1 mRNA	19619570
D004958	Estradiol	[Progesterone co-treated with Estradiol] results in decreased expression of FOLR1 mRNA	18692832
D000431	Ethanol	Ethanol results in decreased expression of FOLR1 mRNA	17531458
D000431	Ethanol	Ethanol results in increased expression of FOLR1 mRNA	19616087
D000431	Ethanol	Ethanol results in increased expression of FOLR1 protein	17449590
D004997	Ethinyl Estradiol	Ethinyl Estradiol affects the expression of FOLR1 mRNA	25064622
D004997	Ethinyl Estradiol	Ethinyl Estradiol affects the expression of FOLR1 mRNA	23300682
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in increased expression of FOLR1 mRNA	15834898; 17557909;
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in increased expression of FOLR1 mRNA	23129252
D005419	Flavonoids	Flavonoids results in decreased expression of FOLR1 mRNA	18035473
D005472	Fluorouracil	Fluorouracil results in decreased expression of FOLR1 mRNA	16510598
D005480	Flurbiprofen	Flurbiprofen results in decreased expression of FOLR1 mRNA	16949054
D005492	Folic Acid	Folic Acid affects the expression of FOLR1 mRNA	17311948
D005492	Folic Acid	Folic Acid binds to FOLR1 protein	21879757
D005492	Folic Acid	Folic Acid deficiency results in decreased expression of FOLR1 mRNA	20465997
D005492	Folic Acid	Folic Acid inhibits the reaction [FOLR1 protein results in increased susceptibility to N-((5-((2-amino-4-oxo-4,7-dihydro-3H-pyrrolo(2,3-d)pyrimidin-6-yl)propyl)thiophen-2-yl)carbonyl)glutamic acid]	21879757
D005492	Folic Acid	Folic Acid results in decreased expression of FOLR1 mRNA	17616776
D005492	Folic Acid	FOLR1 gene mutant form results in decreased abundance of Folic Acid	19732866
D005492	Folic Acid	FOLR1 protein results in increased transport of Folic Acid	19732866
D005492	Folic Acid	N-((5-((2-amino-4-oxo-4,7-dihydro-3H-pyrrolo(2,3-d)pyrimidin-6-yl)propyl)thiophen-2-yl)carbonyl)glutamic acid inhibits the reaction [Folic Acid binds to FOLR1 protein]	21879757
D005492	Folic Acid	FOLR1 protein affects the abundance of Folic Acid	15705887
D005492	Folic Acid	FOLR1 protein results in increased uptake of Folic Acid	14581169
D005492	Folic Acid	RFC1 protein mutant form promotes the reaction [FOLR1 protein mutant form results in decreased abundance of Folic Acid]	18926688
D005492	Folic Acid	Folic Acid results in decreased expression of FOLR1 protein	17482424
D005492	Folic Acid	Folic Acid inhibits the reaction [FOLR1 protein binds to and results in increased import of lometrexol]	16740727
D005620	Freund's Adjuvant	Freund's Adjuvant promotes the reaction [Urethane results in decreased expression of FOLR1 mRNA]	12810352
D005620	Freund's Adjuvant	[Urethane co-treated with Freund's Adjuvant] results in increased expression of FOLR1 mRNA	12400877
C069837	fullerene C60	fullerene C60 results in decreased expression of FOLR1 mRNA	19167457
D019833	Genistein	Genistein results in decreased expression of FOLR1 mRNA	19371625
D005947	Glucose	Glucose results in decreased expression of FOLR1 mRNA	19616087
C004312	glycidol	glycidol results in increased expression of FOLR1 mRNA	24395379; 24915197;
D006493	Heparin	FOLR1 protein binds to Heparin	16470783
D006861	Hydrogen Peroxide	Hydrogen Peroxide affects the expression of FOLR1 mRNA	20044591
D006861	Hydrogen Peroxide	[Hydrogen Peroxide co-treated with Theophylline] results in decreased expression of FOLR1 protein	18951874
D006861	Hydrogen Peroxide	Hydrogen Peroxide results in increased expression of FOLR1 mRNA	14729362
C561695	(+)-JQ1 compound	(+)-JQ1 compound results in decreased expression of FOLR1 mRNA	26644586
C008261	lead acetate	lead acetate affects the expression of FOLR1 mRNA	21864555; 22641619;
C045894	lometrexol	Folic Acid inhibits the reaction [FOLR1 protein binds to and results in increased import of lometrexol]	16740727
C045894	lometrexol	FOLR1 protein binds to and results in increased import of lometrexol	16740727
C004925	methylmercuric chloride	methylmercuric chloride results in decreased expression of FOLR1 mRNA	28001369
C004925	methylmercuric chloride	methylmercuric chloride results in increased expression of FOLR1 mRNA	28001369
C016599	mono-(2-ethylhexyl)phthalate	mono-(2-ethylhexyl)phthalate affects the expression of FOLR1 mRNA	27167697
D009151	Mustard Gas	Mustard Gas results in increased expression of FOLR1 mRNA	25102026
C568952	N-((5-((2-amino-4-oxo-4,7-dihydro-3H-pyrrolo(2,3-d)pyrimidin-6-yl)propyl)thiophen-2-yl)carbonyl)glutamic acid	Folic Acid inhibits the reaction [FOLR1 protein results in increased susceptibility to N-((5-((2-amino-4-oxo-4,7-dihydro-3H-pyrrolo(2,3-d)pyrimidin-6-yl)propyl)thiophen-2-yl)carbonyl)glutamic acid]	21879757
C568952	N-((5-((2-amino-4-oxo-4,7-dihydro-3H-pyrrolo(2,3-d)pyrimidin-6-yl)propyl)thiophen-2-yl)carbonyl)glutamic acid	FOLR1 protein results in increased susceptibility to N-((5-((2-amino-4-oxo-4,7-dihydro-3H-pyrrolo(2,3-d)pyrimidin-6-yl)propyl)thiophen-2-yl)carbonyl)glutamic acid	21879757
C568952	N-((5-((2-amino-4-oxo-4,7-dihydro-3H-pyrrolo(2,3-d)pyrimidin-6-yl)propyl)thiophen-2-yl)carbonyl)glutamic acid	N-((5-((2-amino-4-oxo-4,7-dihydro-3H-pyrrolo(2,3-d)pyrimidin-6-yl)propyl)thiophen-2-yl)carbonyl)glutamic acid inhibits the reaction [Folic Acid binds to FOLR1 protein]	21879757
D009532	Nickel	Nickel results in decreased expression of FOLR1 mRNA	24768652; 25583101;
C028007	nickel monoxide	nickel monoxide results in decreased expression of FOLR1 mRNA	19167457
D009538	Nicotine	Nicotine results in increased expression of FOLR1 mRNA	19616087
C016340	o,p'-DDT	o,p'-DDT results in decreased expression of FOLR1 mRNA	19371625
D010269	Paraquat	Paraquat affects the expression of FOLR1 mRNA	25064622
C410127	PCB 180	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in decreased expression of FOLR1 mRNA	25510870
C046012	pentanal	pentanal results in increased expression of FOLR1 mRNA	26079696
C076994	perfluorooctane sulfonic acid	perfluorooctane sulfonic acid results in increased expression of FOLR1 mRNA	18692542
C031181	phenanthrene	phenanthrene results in increased expression of FOLR1 mRNA	19457238
D010795	Phthalic Acids	Phthalic Acids results in decreased expression of FOLR1 mRNA	15728792
D011374	Progesterone	[Estradiol co-treated with Progesterone] results in increased expression of FOLR1 mRNA	20660070
D011374	Progesterone	[Progesterone co-treated with Estradiol] results in decreased expression of FOLR1 mRNA	18692832
D011374	Progesterone	Progesterone results in decreased expression of FOLR1 mRNA	19690047
C068874	raltitrexed	FOLR1 protein results in increased susceptibility to raltitrexed	21879757
C513635	S-2-pentyl-4-pentynoic hydroxamic acid	S-2-pentyl-4-pentynoic hydroxamic acid results in decreased expression of FOLR1 mRNA	21427059
D012822	Silicon Dioxide	Silicon Dioxide analog results in decreased expression of FOLR1 mRNA	25895662
D020123	Sirolimus	Sirolimus inhibits the reaction [TP73 protein results in increased expression of FOLR1 mRNA]	21245298
C017947	sodium arsenite	sodium arsenite affects the expression of FOLR1 mRNA	30664189
C017947	sodium arsenite	sodium arsenite affects the expression of FOLR1 protein	30664189
D020122	tert-Butylhydroperoxide	tert-Butylhydroperoxide results in decreased expression of FOLR1 mRNA	22956110
D020122	tert-Butylhydroperoxide	tert-Butylhydroperoxide results in increased expression of FOLR1 mRNA	14729362; 15003993;
D013749	Tetrachlorodibenzodioxin	[Estradiol co-treated with Tetrachlorodibenzodioxin] results in increased expression of FOLR1 mRNA	19619570
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of FOLR1 mRNA	19619570
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of FOLR1 mRNA	22298810
D013752	Tetracycline	Tetracycline affects the expression of FOLR1 mRNA	25064622
D013806	Theophylline	[Hydrogen Peroxide co-treated with Theophylline] results in decreased expression of FOLR1 protein	18951874
D013849	Thimerosal	Thimerosal results in decreased expression of FOLR1 mRNA	24675092
D013853	Thioacetamide	Thioacetamide affects the expression of FOLR1 mRNA	25064622
C009495	titanium dioxide	titanium dioxide results in decreased expression of FOLR1 mRNA	29264374
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution affects the expression of FOLR1 protein	30291989
D014118	Toxins, Biological	Toxins, Biological affects the expression of FOLR1 mRNA	19682533
D014212	Tretinoin	Tretinoin results in increased expression of FOLR1 mRNA	16604517
D014241	Trichloroethylene	Trichloroethylene affects the expression of FOLR1 mRNA	21135412
D014241	Trichloroethylene	Trichloroethylene results in increased methylation of FOLR1 gene	27618143
D014520	Urethane	Freund's Adjuvant promotes the reaction [Urethane results in decreased expression of FOLR1 mRNA]	12810352
D014520	Urethane	[Urethane co-treated with Freund's Adjuvant] results in increased expression of FOLR1 mRNA	12400877
D014520	Urethane	Urethane results in increased expression of FOLR1 mRNA	12400877
D014635	Valproic Acid	Valproic Acid affects the expression of FOLR1 mRNA	25064622
D014635	Valproic Acid	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of FOLR1 mRNA	27188386
D014635	Valproic Acid	Valproic Acid affects the expression of FOLR1 mRNA	25979313
D014635	Valproic Acid	Valproic Acid results in decreased expression of FOLR1 mRNA	23179753
D014635	Valproic Acid	Valproic Acid results in increased expression of FOLR1 mRNA	23179753; 26272509; 29223574;
D014635	Valproic Acid	Valproic Acid results in increased methylation of FOLR1 gene	29154799
D014635	Valproic Acid	Valproic Acid affects the expression of FOLR1 mRNA	9188671
D014635	Valproic Acid	Valproic Acid results in decreased expression of FOLR1 mRNA	19136453; 20546886; 21427059;
D001335	Vehicle Emissions	Vehicle Emissions affects the methylation of FOLR1 gene	25560391
D014752	Vinyl Chloride	Vinyl Chloride results in increased expression of FOLR1 mRNA	18579281
D015025	Zearalenone	Zearalenone results in decreased expression of FOLR1 mRNA	19371625
D000077211	Zoledronic Acid	Zoledronic Acid results in decreased expression of FOLR1 mRNA	24714768

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0002	3D-structure
KW-1003	Cell membrane
KW-0968	Cytoplasmic vesicle
KW-0903	Direct protein sequencing
KW-1015	Disulfide bond
KW-0967	Endosome
KW-0290	Folate-binding
KW-0325	Glycoprotein
KW-0336	GPI-anchor
KW-0449	Lipoprotein
KW-0472	Membrane
KW-0523	Neurodegeneration
KW-0621	Polymorphism
KW-0675	Receptor
KW-1185	Reference proteome
KW-0964	Secreted
KW-0732	Signal
KW-0813	Transport

Interpro

InterPro ID	InterPro Term
IPR004269	Folate_rcpt
IPR018143	Folate_rcpt-like
IPR032935	FOLR1

PROSITE

PROSITE ID	PROSITE Term

Pfam

Pfam ID	Pfam Term
PF03024	Folate_rec

Gene: FOLR1

Basic information

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

Protein disorder information

Orthologous information

Other genetic variants/mutations

Disease or phenotype associated information

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO:Biological Process

GO:Cellular Component

Reactome Pathway

Drugs and compounds information

Functional annotations

Keywords

Interpro

PROSITE

Pfam

Protein-protein interaction

Protein-miRNA interaction