SRD5A3

Protein identityUniProt · HPA

UniProt accession

Q9H8P0

Gene

SRD5A3

Ensembl

ENSG00000128039

Chromosome

4

Canonical length

318 aa

Protein class

Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted membrane proteins

Subcellular location

Plasma membrane,Cytosol

OverviewNCBI Gene

The protein encoded by this gene belongs to the steroid 5-alpha reductase family, and polyprenol reductase subfamily. It is involved in the production of androgen 5-alpha-dihydrotestosterone (DHT) from testosterone, and maintenance of the androgen-androgen receptor activation pathway. This protein is also necessary for the conversion of polyprenol into dolichol, which is required for the synthesis of dolichol-linked monosaccharides and the oligosaccharide precursor used for N-linked glycosylation of proteins. Mutations in this gene are associated with congenital disorder of glycosylation type Iq. [provided by RefSeq, Mar 2011]

Canonical amino-acid sequenceUniProt

318 residues, UniProt reviewed canonical sequence.

>Q9H8P0|SRD5A3
     1  MAPWAEAEHS ALNPLRAVWL TLTAAFLLTL LLQLLPPGLL PGCAIFQDLI RYGKTKCGEP
    61  SRPAACRAFD VPKRYFSHFY IISVLWNGFL LWCLTQSLFL GAPFPSWLHG LLRILGAAQF
   121  QGGELALSAF LVLVFLWLHS LRRLFECLYV SVFSNVMIHV VQYCFGLVYY VLVGLTVLSQ
   181  VPMDGRNAYI TGKNLLMQAR WFHILGMMMF IWSSAHQYKC HVILGNLRKN KAGVVIHCNH
   241  RIPFGDWFEY VSSPNYLAEL MIYVSMAVTF GFHNLTWWLV VTNVFFNQAL SAFLSHQFYK
   301  SKFVSYPKHR KAFLPFLF

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SRD5A3 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Other membrane

Secreted

No

Transmembrane segments

6

Mean surface accessibility (rSASA)

0.26

Highest tissue expression

21 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SRD5A3.

Disease | AllUniProt

Conditions SRD5A3 is implicated in, by any mechanism.

• Congenital disorder of glycosylation 1Q (CDG1Q) MIM:612379
• Kahrizi syndrome (KHRZ) MIM:612713

Disease | GeneticClinVar

23 pathogenic / likely-pathogenic of 253 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• SRD5A3-congenital disorder of glycosylation
• Kahrizi syndrome
• Abnormality of the nervous system
• Congenital disorder of glycosylation
• SRD5A3-related disorder

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.97

gnomAD pLI

0

gnomAD missense Z

0.76

DepMap mean gene effect

-0.19

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• androgen biosynthetic process
• dolichol-linked oligosaccharide biosynthetic process
• dolichyl monophosphate biosynthetic process
• polyprenol catabolic process

Molecular functions

• 3-oxo-5-alpha-steroid 4-dehydrogenase (NADP+) activity
• 3-oxo-5-alpha-steroid 4-dehydrogenase activity
• oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor
• polyprenal reductase activity
• polyprenol reductase activity

Cellular components

• endoplasmic reticulum
• endoplasmic reticulum membrane

Protein domainsUniProt · Pfam · InterPro

• 3-oxo-5-alpha-steroid 4-dehydrogenase, C-terminal
• 3-oxo-5-alpha-steroid 4-dehydrogenase
• Polyprenal reductase

KeywordsUniProt

• Cataract
• Congenital disorder of glycosylation
• Endoplasmic reticulum
• Intellectual disability
• Lipid metabolism
• Membrane
• NADP
• Oxidoreductase
• Transmembrane
• Transmembrane helix