RDH12 Q189X

Stable Identifier
R-HSA-2471667
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Synonyms
Retinol dehydrogenase 12 ecNumber1.1.1.-/ecNumber, RDH12_HUMAN, RDH12 Gln189Ter
Locations in the PathwayBrowser
External Reference Information
External Reference
Gene Names
RDH12, SDR7C2
Chain
chain:1-316
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
AK054835
AK315462
AL049779
ALQ34323
BAB70811
BAG37849
BC025724
CCDS9787
CH471061
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
KU178865
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
Other forms of this molecule
Modified Residues
Name
L-glutamine 189 replaced with unknown
Coordinate
189
PsiMod HEY
A protein modification that effectively removes or replaces an L-glutamine.
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
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