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
Icon
RDH12 Y226C [photoreceptor inner segment membrane] icon
RDH12 Y226C [photoreceptor inner segment membrane] icon
Locations in the PathwayBrowser
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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:ENSG00000139988.10 RDH12
HGNC:19977 RDH12
KEGG Gene (Homo sapiens):145226 RDH12
Monarch:145226 RDH12
NCBI Gene:145226 RDH12
OMIM:608830 RDH12
UCSC:Q96NR8 RDH12
Reference Transcript
Other Identifiers
0004210377
11727251_at
145226
16785709
242998_PM_at
242998_at
3541453
3541461
3541462
3541463
3541464
3541465
3541468
3541469
3541470
3541472
3541474
3541477
3541478
63476_at
7975284
A_23_P37088
GE80080
GO:0001523
GO:0001917
GO:0004745
GO:0005515
GO:0005622
GO:0005737
GO:0005783
GO:0005789
GO:0005886
GO:0006629
GO:0007601
GO:0016020
GO:0016491
GO:0042572
GO:0043226
GO:0045494
GO:0050877
GO:0050896
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
Other forms of this molecule
RDH12 Q189X [photoreceptor inner segment membrane]
RDH12 H151N [photoreceptor inner segment membrane]
RDH12 p.Ala269fsX270 [photoreceptor inner segment membrane]
RDH12 A126V [photoreceptor inner segment membrane]
RDH12 [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
RefSeq
OpenTargets
HPA
GeneCards
Ensembl
PRO
Pharos - Targets
Orphanet
HMDB Protein
Interactors (3)
Accession #Entities Entities Confidence Score Evidence (IntAct)
 UniProt:Q6IQ23-2 PLEKHA7      0.556 3
 UniProt:Q93062-3 RBPMS      0.556 3
 UniProt:Q93062 RBPMS      0.556 3
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