Reactome | RDH12 Y226C [photoreceptor inner segment membrane]

RDH12 Y226C [photoreceptor inner segment membrane]

Stable Identifier

R-HSA-2471697

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

photoreceptor inner segment membrane

Synonyms

Retinol dehydrogenase 12 ecNumber1.1.1.-/ecNumber, RDH12_HUMAN, RDH12 Tyr226Cys

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External Reference Information

External Reference

UniProt:Q96NR8 RDH12

Gene Names

RDH12, SDR7C2

Chain

chain:1-316

Reference Genes

BioGPS Gene:145226 RDH12

COSMIC (genes):RDH12 RDH12

CTD Gene:145226 RDH12

dbSNP Gene:145226 RDH12

ENSEMBL:ENSG00000139988 RDH12

HGNC:19977 RDH12

KEGG:hsa:145226 RDH12

Monarch:145226 RDH12

NCBI Gene:145226 RDH12

OMIM:608830 RDH12

UCSC:Q96NR8 RDH12

Reference Transcript

RefSeq:NM_152443.2 RDH12

Other Identifiers

11727251_at

145226

16785709

242998_PM_at

242998_at

3541453

3541461

3541462

3541463

3541464

3541465

3541468

3541469

3541470

3541472

3541474

3541475

3541476

3541477

3541478

63476_at

7975284

A_23_P37088

GE80080

GO:0001523

GO:0001917

GO:0003824

GO:0004745

GO:0005515

GO:0005783

GO:0005789

GO:0006629

GO:0007601

GO:0016020

GO:0016491

GO:0042572

GO:0043226

GO:0045494

GO:0050877

GO:0052650

GO:0060342

GO:0098754

GO:0102354

GO:0110095

HMNXSV003002431

Hs.21299.0.A1_3p_at

ILMN_1792182

PH_hs_0025012

TC14000410.hg

Participates

as a member of

RDH12 LOF variants [photoreceptor inner segment membrane] (Homo sapiens)

Other forms of this molecule

RDH12 [photoreceptor inner segment membrane]

RDH12 Ala269Glyfs*2 [photoreceptor inner segment membrane]

RDH12 H151N [photoreceptor inner segment membrane]

RDH12 Q189* [photoreceptor inner segment membrane]

RDH12 A126V [photoreceptor inner segment membrane]

Modified Residues

Name

L-tyrosine 226 replaced with L-cysteine

Coordinate

226

PsiMod

L-tyrosine removal [MOD:01649]

A protein modification that effectively removes or replaces an L-tyrosine.

L-cysteine residue [MOD:00014]

A protein modification that effectively converts a source amino acid residue to an L-cysteine.

Disease

Name	Identifier	Synonyms
Leber congenital amaurosis	DOID:14791	Leber's disease, Leber's congenital amaurosis, AMAUROSIS CONGENITA OF LEBER I, Leber's disease, Leber's amaurosis (disorder)

Cross References

OpenTargets

ENSG00000139988

ENSEMBL

ENSP00000267502, ENST00000267502, ENSG00000139988, ENST00000551171, ENSP00000449079

HPA

ENSG00000139988-RDH12

GeneCards

RDH12

PRO

Q96NR8

Pharos - Targets

Q96NR8

Orphanet

RDH12

HMDB Protein

HMDBP03034

Interactors (13)

Accession	#Entities	Entities	Confidence Score	Evidence (IntAct)
UniProt:Q93062-3 RBPMS			0.556	3
UniProt:Q93062 RBPMS			0.556	3
UniProt:Q6IQ23-2 PLEKHA7			0.556	3
UniProt:Q3LXA3 TKFC	1	TKFC [cytosol] (R-HSA-918185)	0.527	2
UniProt:P40855 PEX19	1	PEX19 [cytosol] (R-HSA-3009036)	0.527	2
UniProt:O95630 STAMBP	1	STAMBP [cytosol] (R-HSA-5693063)	0.527	2
UniProt:O60361 NME2P1	1	NME2P1 [cytosol] (R-HSA-6806876)	0.527	2
UniProt:Q13542 4EBP2			0.527	2
UniProt:Q14847 LASP1			0.527	2
UniProt:Q7Z6K5 ARPIN			0.527	2
UniProt:Q5XPI4 RNF123	2	K63polyUb-RNF123 [cytosol] (R-HSA-6783055) RNF123 [cytosol] (R-HSA-975996)	0.527	2
UniProt:P62079 TSPAN5	2	TSPAN5 [plasma membrane] (R-HSA-9010031) TSPAN5 [endoplasmic reticulum lumen] (R-HSA-9010081)	0.527	2
UniProt:Q969T4 UBE2E3	4	Ub-C145-UBE2E3 [cytosol] (R-HSA-8864162) Ub-C145-UBE2E3 [nucleoplasm] (R-HSA-8864208) UBE2E3 [nucleoplasm] (R-HSA-8852108) UBE2E3 [cytosol] (R-HSA-947633)	0.527	2