RDH12 Y226C [photoreceptor inner segment]

Stable Identifier
R-HSA-2471697
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
photoreceptor inner segment
Synonyms
Retinol dehydrogenase 12 ecNumber1.1.1.-/ecNumber, RDH12_HUMAN, RDH12 Tyr226Cys
Locations in the PathwayBrowser
Expand all
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
ENSEMBL_homo_sapiens_GENE:ENSG00000139988 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_at
3541453
3541462
3541463
3541464
3541465
3541468
3541469
3541470
3541472
3541474
3541477
3541478
63476_at
7975284
A0A0S2Z613
A_23_P37088
AAH25724
ALQ34323
BAB70811
BAG37849
CCDS9787
EAW80951
ENSG00000139988
ENSP00000267502
ENSP00000449079
ENST00000267502
ENST00000551171
EntrezGene:145226
GE80080
GO:0001523
GO:0003674
GO:0004745
GO:0005515
GO:0005575
GO:0005622
GO:0005623
GO:0005886
GO:0006629
GO:0007601
GO:0008150
GO:0016491
GO:0042572
GO:0042592
GO:0044281
GO:0045494
GO:0050877
GO:0050896
GO:0052650
GO:0055114
GO:0060342
HGNC:19977
Hs.21299.0.A1_3p_at
ILMN_1792182
IPR002347
IPR036291
MIM:608830
MIM:612712
NM_152443
NP_689656
PF00106
PH_hs_0025012
PR00080
PR00081
RDH12
RDH12-201
RDH12-203
TC14000410.hg
uc001xjz.5
uc059cro.1
UPI0000071827
Participant Of
hasMember
Other forms of this molecule
RDH12 Q189X [photoreceptor inner segment]
RDH12 H151N [photoreceptor inner segment]
RDH12 p.Ala269fsX270 [photoreceptor inner segment]
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-cysteine residue [MOD:00014]
A protein modification that effectively converts a source amino acid residue to an L-cysteine.
L-tyrosine removal [MOD:01649]
A protein modification that effectively removes or replaces an L-tyrosine.
Disease
Name Identifier Synonyms
Leber congenital amaurosis 14791 Leber's disease, Leber's congenital amaurosis, AMAUROSIS CONGENITA OF LEBER I, Leber's disease, Leber's amaurosis (disorder)
Cross References
RefSeq
OpenTargets
GeneCards
PRO
BRENDA (Homo sapiens)
Orphanet
HMDB Protein
Interactors (2)
Accession #Entities Entities Confidence Score Evidence (IntAct)
 UniProt:Q93062-3 RBPMS      0.556 3
 UniProt:Q93062 RBPMS      0.556 3