CleftGeneDB-Search

Gene: RDH10

Basic information

Tag	Content
Uniprot ID	Q8IZV5
Entrez ID	157506
Genbank protein ID	AAQ88637.1; AAN64747.1; AAH67131.1;
Genbank nucleotide ID	NM_172037.4
Ensembl protein ID	ENSP00000240285
Ensembl nucleotide ID	ENSG00000121039
Gene name	Retinol dehydrogenase 10
Gene symbol	RDH10
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Retinol dehydrogenase with a clear preference for NADP. Converts all-trans-retinol to all-trans-retinal. Has no detectable activity towards 11-cis-retinol, 9-cis-retinol and 13-cis-retinol.
Sequence	MNIVVEFFVV TFKVLWAFVL AAARWLVRPK EKSVAGQVCL ITGAGSGLGR LFALEFARRR 60 ALLVLWDINT QSNEETAGMV RHIYRDLEAA DAAALQAGNG EEEILPHCNL QVFTYTCDVG 120 KRENVYLTAE RVRKEVGEVS VLVNNAGVVS GHHLLECPDE LIERTMMVNC HAHFWTTKAF 180 LPTMLEINHG HIVTVASSLG LFSTAGVEDY CASKFGVVGF HESLSHELKA AEKDGIKTTL 240 VCPYLVDTGM FRGCRIRKEI EPFLPPLKPD YCVKQAMKAI LTDQPMICTP RLMYIVTFMK 300 SILPFEAVVC MYRFLGADKC MYPFIAQRKQ ATNNNEAKNG I 341

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

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

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Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Species	Evidence	Details
1:1 ortholog	Rdh10	98711	Q8VCH7	CPO	Mus musculus	Publication	More>>
1:1 ortholog	RDH10	282852	Q8HZT6		Bos taurus	Prediction	More>>
1:1 ortholog	RDH10	486998	E2R0Q8		Canis lupus familiaris	Prediction	More>>
1:1 ortholog	RDH10	102180778	A0A452EW84		Capra hircus	Prediction	More>>
1:1 ortholog	RDH10	157506	Q8IZV5		Homo sapiens	Prediction	More>>
1:1 ortholog	RDH10	472795	H2QWA8		Pan troglodytes	Prediction	More>>
1:1 ortholog	RDH10		A0A286ZUS8		Sus scrofa	Prediction	More>>
1:1 ortholog	RDH10	100340133	G1SV43		Oryctolagus cuniculus	Prediction	More>>
1:1 ortholog	Rdh10	353252	Q80ZF7		Rattus norvegicus	Prediction	More>>
1:1 ortholog	rdh10a		F1RES0		Danio rerio	Prediction	More>>

Showing 1 to 10 of 10 entries

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Other genetic variants/mutations

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ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs867212084	p.Val9Met	missense variant	-	NC_000008.11:g.73295314G>A	TOPMed,gnomAD
rs867212084	p.Val9Leu	missense variant	-	NC_000008.11:g.73295314G>T	TOPMed,gnomAD
rs867212084	p.Val9Leu	missense variant	-	NC_000008.11:g.73295314G>C	TOPMed,gnomAD
rs1270058134	p.Thr11Ile	missense variant	-	NC_000008.11:g.73295321C>T	TOPMed,gnomAD
rs1190485689	p.Val19Leu	missense variant	-	NC_000008.11:g.73295344G>T	TOPMed,gnomAD
rs1190485689	p.Val19Met	missense variant	-	NC_000008.11:g.73295344G>A	TOPMed,gnomAD
rs1021188367	p.Arg24Gly	missense variant	-	NC_000008.11:g.73295359C>G	TOPMed,gnomAD
rs867559240	p.Gly78Asp	missense variant	-	NC_000008.11:g.73295522G>A	TOPMed,gnomAD
rs867559240	p.Gly78Val	missense variant	-	NC_000008.11:g.73295522G>T	TOPMed,gnomAD
rs1436935711	p.Val132Ala	missense variant	-	NC_000008.11:g.73297299T>C	TOPMed,gnomAD
rs1427297238	p.Leu245Phe	missense variant	-	NC_000008.11:g.73321040C>T	TOPMed,gnomAD
rs950256022	p.Arg255Gln	missense variant	-	NC_000008.11:g.73321071G>A	TOPMed,gnomAD
rs1390959398	p.Arg28Pro	missense variant	-	NC_000008.11:g.73295372G>C	TOPMed
rs1168223467	p.Pro29Leu	missense variant	-	NC_000008.11:g.73295375C>T	TOPMed
rs1415742333	p.Ile41Val	missense variant	-	NC_000008.11:g.73295410A>G	TOPMed
rs1206589757	p.Ala44Gly	missense variant	-	NC_000008.11:g.73295420C>G	TOPMed
rs1224840565	p.Arg50Leu	missense variant	-	NC_000008.11:g.73295438G>T	TOPMed
rs1415500519	p.Arg81Cys	missense variant	-	NC_000008.11:g.73295530C>T	TOPMed
rs1250496717	p.Asp86Asn	missense variant	-	NC_000008.11:g.73295545G>A	TOPMed
rs1334637507	p.Leu95Val	missense variant	-	NC_000008.11:g.73295572C>G	TOPMed

Showing 1 to 20 of 171 entries

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Disease or phenotype associated information

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Disease ID	Disease Name	Disease Type	Source
C0007131	Non-Small Cell Lung Carcinoma	disease	BEFREE
C0008297	Choanal Atresia	disease	BEFREE
C0015927	Fetal Death	phenotype	CTD_human
C0023893	Liver Cirrhosis, Experimental	disease	CTD_human
C0023903	Liver neoplasms	group	BEFREE
C0376634	Craniofacial Abnormalities	group	CTD_human
C2239176	Liver carcinoma	disease	BEFREE;LHGDN

Showing 1 to 7 of 7 entries

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Gene Ontology (GO)/biological pathways

GO:Molecular Function

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GO ID	GO Term	Evidence
GO:0004745	retinol dehydrogenase activity	IDA
GO:0016616	oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor	IBA
GO:0052650	NADP-retinol dehydrogenase activity	IEA

Showing 1 to 3 of 3 entries

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GO:Biological Process

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GO ID	GO Term	Evidence
GO:0001523	retinoid metabolic process	TAS
GO:0001656	metanephros development	IEA
GO:0001701	in utero embryonic development	IEA
GO:0002138	retinoic acid biosynthetic process	IEA
GO:0007601	visual perception	IDA
GO:0008406	gonad development	IEA
GO:0014032	neural crest cell development	IEA
GO:0031076	embryonic camera-type eye development	IEA
GO:0035115	embryonic forelimb morphogenesis	IEA
GO:0042572	retinol metabolic process	IEA
GO:0042572	retinol metabolic process	IDA
GO:0042574	retinal metabolic process	IDA
GO:0043583	ear development	IEA
GO:0043584	nose development	IEA
GO:0048703	embryonic viscerocranium morphogenesis	IEA
GO:0055114	oxidation-reduction process	IEA
GO:0060431	primary lung bud formation	IEA
GO:0060449	bud elongation involved in lung branching	IEA
GO:1900054	positive regulation of retinoic acid biosynthetic process	IEA

Showing 1 to 19 of 19 entries

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GO:Cellular Component

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GO ID	GO Term	Evidence
GO:0005634	nucleus	IDA
GO:0005737	cytoplasm	IDA
GO:0005789	endoplasmic reticulum membrane	TAS
GO:0005811	lipid droplet	IBA
GO:0016021	integral component of membrane	IDA

Showing 1 to 5 of 5 entries

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Reactome Pathway

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Reactome ID	Reactome Term	Evidence
R-HSA-162582	Signal Transduction	TAS
R-HSA-2187338	Visual phototransduction	TAS
R-HSA-2453902	The canonical retinoid cycle in rods (twilight vision)	TAS
R-HSA-372790	Signaling by GPCR	TAS
R-HSA-388396	GPCR downstream signalling	TAS
R-HSA-418594	G alpha (i) signalling events	TAS
R-HSA-5362517	Signaling by Retinoic Acid	TAS
R-HSA-5365859	RA biosynthesis pathway	TAS
R-HSA-9006931	Signaling by Nuclear Receptors	TAS

Showing 1 to 9 of 9 entries

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Drugs and compounds information

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ID	Drug Name	Action	PubMed
C001277	geldanamycin	geldanamycin results in increased expression of RDH10 mRNA	26705709
C006253	pirinixic acid	[pirinixic acid binds to and results in increased activity of PPARA protein] which results in increased expression of RDH10 mRNA	19710929
C006780	bisphenol A	bisphenol A results in increased expression of RDH10 mRNA	29275510
C006780	bisphenol A	bisphenol A results in decreased expression of RDH10 mRNA	25181051; 30816183;
C009505	4,4'-diaminodiphenylmethane	4,4'-diaminodiphenylmethane results in increased expression of RDH10 mRNA	18648102
C009505	4,4'-diaminodiphenylmethane	4,4'-diaminodiphenylmethane results in decreased expression of RDH10 mRNA	25380136
C011559	tributyltin	tributyltin results in increased expression of RDH10 mRNA	29505797
C018021	cobaltous chloride	cobaltous chloride results in increased expression of RDH10 mRNA	19320972
C018475	butyraldehyde	butyraldehyde results in decreased expression of RDH10 mRNA	26079696
C036042	dicyclohexyl phthalate	dicyclohexyl phthalate affects the expression of RDH10 mRNA	26924002
C082360	fipronil	fipronil results in increased expression of RDH10 mRNA	23962444
C410337	K 7174	K 7174 results in increased expression of RDH10 mRNA	24086573
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Phenylmercuric Acetate 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 RDH10 mRNA	27188386
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 RDH10 mRNA	27188386
C492448	ICG 001	ICG 001 results in decreased expression of RDH10 mRNA	26191083
C496492	abrine	abrine results in decreased expression of RDH10 mRNA	31054353
C516138	dorsomorphin	[NOG protein co-treated with Phenylmercuric Acetate 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 RDH10 mRNA	27188386
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 RDH10 mRNA	27188386
C517284	monomethyl phthalate	monomethyl phthalate affects the expression of RDH10 mRNA	26924002
C543008	bis(4-hydroxyphenyl)sulfone	bis(4-hydroxyphenyl)sulfone results in increased expression of RDH10 mRNA	30951980

Showing 1 to 20 of 96 entries

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Functional annotations

Keywords

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Keyword ID	Keyword Term
KW-0256	Endoplasmic reticulum
KW-0472	Membrane
KW-0492	Microsome
KW-0521	NADP
KW-0560	Oxidoreductase
KW-0735	Signal-anchor
KW-0812	Transmembrane
KW-1133	Transmembrane helix
KW-1185	Reference proteome

Showing 1 to 9 of 9 entries

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Interpro

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InterPro ID	InterPro Term
IPR002347	SDR_fam
IPR020904	Sc_DH/Rdtase_CS
IPR032970	RDH10
IPR036291	NAD(P)-bd_dom_sf

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PROSITE

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PROSITE ID	PROSITE Term
PS00061	ADH_SHORT

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Pfam

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Pfam ID	Pfam Term
PF00106	adh_short

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Gene: RDH10

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

There is no related protein structure for this gene.

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