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SRD5A3 Y163* [endoplasmic reticulum membrane]
Stable Identifier
R-HSA-4755617
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
endoplasmic reticulum membrane
Synonyms
3-oxo-5-alpha-steroid 4-dehydrogenase 3, S5A3_HUMAN
Icon
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Diseases of metabolism (Homo sapiens)
Diseases of glycosylation (Homo sapiens)
Diseases associated with glycosylation precursor biosynthesis (Homo sapiens)
Defective SRD5A3 causes SRD5A3-CDG, KHRZ (Homo sapiens)
Defective SRD5A3 does not reduce pPNOL to DCHOL (Homo sapiens)
SRD5A3 mutants [endoplasmic reticulum membrane] (Homo sapiens)
SRD5A3 Y163* [endoplasmic reticulum membrane] (Homo sapiens)
External Reference Information
External Reference
UniProt:Q9H8P0 SRD5A3
Gene Names
SRD5A3, SRD5A2L
Chain
chain:1-318
Reference Genes
BioGPS Gene:79644 SRD5A3
COSMIC (genes):SRD5A3 SRD5A3
CTD Gene:79644 SRD5A3
dbSNP Gene:79644 SRD5A3
ENSEMBL:ENSG00000128039 SRD5A3
ENSEMBL_homo_sapiens_GENE:ENSG00000128039.13 SRD5A3
HGNC:25812 SRD5A3
KEGG Gene (Homo sapiens):79644 SRD5A3
Monarch:79644 SRD5A3
NCBI Gene:79644 SRD5A3
OMIM:611715 SRD5A3
UCSC:Q9H8P0 SRD5A3
Reference Transcript
RefSeq:NM_024592.4 SRD5A3
Other Identifiers
11720124_at
11720125_at
16966897
218800_PM_at
218800_at
222750_PM_s_at
222750_s_at
243444_PM_at
243444_at
2727763
2727764
2727773
2727775
2727776
2727779
2727780
2727781
2727782
2727783
2727784
2727786
44034_at
60159_at
69073_at
79644
8095139
A_23_P121783
A_33_P3389023
GE79734
GO:0003824
GO:0003865
GO:0005783
GO:0005789
GO:0006486
GO:0006488
GO:0006489
GO:0006629
GO:0006702
GO:0016020
GO:0016095
GO:0016491
GO:0016627
GO:0016628
GO:0019348
GO:0019408
GO:0036211
GO:0043226
GO:0044238
GO:0047751
GO:0071704
GO:0102389
GO:1901135
HMNXSV003028932
Hs.39311.0.A1_3p_at
ILMN_1678435
PH_hs_0022108
TC04000319.hg
g12803324_3p_a_at
g13375784_3p_at
Participates
as a member of
SRD5A3 mutants [endoplasmic reticulum membrane] (Homo sapiens)
Other forms of this molecule
SRD5A3 W107* [endoplasmic reticulum membrane]
SRD5A3 F69Lfs*2 [endoplasmic reticulum membrane]
SRD5A3 R142* [endoplasmic reticulum membrane]
SRD5A3 Q96* [endoplasmic reticulum membrane]
SRD5A3 S10* [endoplasmic reticulum membrane]
SRD5A3 [endoplasmic reticulum membrane]
Modified Residues
Name
Nonsense mutation at L-tyrosine 163
Coordinate
163
PsiMod
L-tyrosine removal [MOD:01649]
A protein modification that effectively removes or replaces an L-tyrosine.
Disease
Name
Identifier
Synonyms
congenital disorder of glycosylation type I
DOID:0050570
Cross References
RefSeq
NP_078868.1
OpenTargets
ENSG00000128039
IntEnz
1.3.1.94
,
1.3.1.22
HPA
ENSG00000128039-SRD5A3
GeneCards
Q9H8P0
Ensembl
ENSP00000264228
,
ENST00000264228
,
ENSG00000128039
PRO
Q9H8P0
Pharos - Targets
Q9H8P0
Orphanet
19465
HMDB Protein
HMDBP09188
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