Gene: MTHFR

Basic information

Tag Content
Uniprot ID A0A452G4N1
Entrez ID 102182523
Genbank protein ID
Genbank nucleotide ID XM_018060337.1; XM_018060338.1;
Ensembl protein ID ENSCHIP00000031461
Ensembl nucleotide ID ENSCHIG00000025785
Gene name Methylenetetrahydrofolate reductase
Gene symbol MTHFR
Organism Capra hircus
NCBI taxa ID 9925
Cleft type
Developmental stage
Data sources Homology search
Reference
Functional description
Sequence
MVNEPRGNGG PGPRWEGSSS GSESSKDSSR CSTPGLDPER CERLREKMKR RMDSGDKWFS 60
LEFFPPRTAQ GAVNLISRFD RMGAGGPLFV DVTWHPAGDP GSDKETSSMV IASTAVNYCG 120
LETILHMTCC HQSREEITGH LHKAKQLGLK NILALRGDPI GDQWEEEEGG FNYATDLVKH 180
IRNEFGDYFD VCVAGYPKGH PEGESFEADL KHLKEKVAAG ADFIITQLFF EADTFFRFVK 240
ACSEIGITCP ILPGIFPIQG YHSLRQLVKL SKLEVPQQIK DVIEPIKDND AAIRNYGIEQ 300
AVSLCQELLA SGLVPGLHFY TLNREVATIE VLKRLGLWIE DPRRPLPWAL SAHPKRRVED 360
VRPIFWASRP KSYIYRTQEW DEFPNGRWGN SSSPAFGELK DYYLFYLKSK SPKEELLKMW 420
GEELTSEESV FQVFAHYLSG EPNQNGYKVT CLPWNDEPLA AETSLMKEEL LRVNRRGILT 480
INSQPNINGK PSSDPIVGWG PSGGYVFQKA YLEFFTSRET VEALLQVLKK YELRVNYHIV 540
DVKGENITNA PELQPNAVTW GIFPGREIIQ PTVVDPVSFM FWKDEAFALW IEQWGKLYEE 600
ESPSRMIIQY IHDNYFLVNL VDNEFPLDNC LWQVVEDTFE LLSRPPQDER ETEAL 655

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.

Protein disorder information

Orthologous information

Relation Gene symbol Entrez ID UniProt ID Cleft type Developmental stage Species Evidence Details
1:1 orthologMTHFR497032A0A3Q1M8J1Bos taurusPredictionMore>>
1:1 orthologMTHFRE2QXW9Canis lupus familiarisPredictionMore>>
1:1 orthologMTHFR102182523A0A452G4N1Capra hircusPredictionMore>>
1:1 orthologMTHFRA0A3Q2HUW6Equus caballusPredictionMore>>
1:1 orthologMTHFR4524P42898CPO,CL/PHomo sapiensPublicationMore>>
1:1 orthologMthfrA2A7F9Mus musculusPredictionMore>>
1:1 orthologMTHFR469800H2PY11Pan troglodytesPredictionMore>>
1:1 ortholog397180F1RF82Sus scrofaPredictionMore>>
1:1 orthologMthfr362657D4A7E8Rattus norvegicusPredictionMore>>
1:1 orthologmthfr567547B0V153Danio rerioPredictionMore>>

Gene ontology

GO ID GO Term
GO:0050660 flavin adenine dinucleotide binding
GO:0004489 methylenetetrahydrofolate reductase (NAD(P)H) activity
GO:0072341 modified amino acid binding
GO:0044877 protein-containing complex binding
GO:0070829 heterochromatin maintenance
GO:0050667 homocysteine metabolic process
GO:0006555 methionine metabolic process
GO:0001843 neural tube closure
GO:0031060 regulation of histone methylation
GO:0035999 tetrahydrofolate interconversion

Functional annotations

Keywords

Keyword ID Keyword Term
KW-0274 FAD
KW-0285 Flavoprotein
KW-0560 Oxidoreductase
KW-1185 Reference proteome

Interpro

InterPro ID InterPro Term
IPR029041 FAD-linked_oxidoreductase-like
IPR004621 Fadh2_euk
IPR003171 Mehydrof_redctse

PROSITE

PROSITE ID PROSITE Term

Pfam

Pfam ID Pfam Term
PF02219 MTHFR