RDH12 A126V [photoreceptor inner segment membrane]

Stable Identifier
R-HSA-2471753
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
photoreceptor inner segment membrane
Synonyms
Retinol dehydrogenase 12 ecNumber1.1.1.-/ecNumber, RDH12_HUMAN, RDH12 Ala126Val
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
Other forms of this molecule
RDH12 Q189X [photoreceptor inner segment]
RDH12 Y226C [photoreceptor inner segment]
RDH12 H151N [photoreceptor inner segment]
RDH12 p.Ala269fsX270 [photoreceptor inner segment]
RDH12 [photoreceptor inner segment membrane]
Modified Residues
Name
L-alanine 126 replaced with L-valine
Coordinate
126
PsiMod
L-alanine removal [MOD:01631]
A protein modification that effectively removes or replaces an L-alanine.
L-valine residue [MOD:00029]
A protein modification that effectively converts a source amino acid residue to an L-valine.
Disease
Name Identifier Synonyms
retinitis pigmentosa 10584 RP, Retinitis pigmentosa (disorder), retinitis pigmentosa-1, Retinitis pigmentosa, Retinitis pigmentosa
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