• Gene id: 79644

Gene Summary

• Gene Symbol: SRD5A3   Gene   UCSC   Ensembl
• Aliases: CDG1P, CDG1Q, KRIZI, SRD5A2L, SRD5A2L1
• Gene name: steroid 5 alpha-reductase 3
• Alternate names: polyprenol reductase, 3-oxo-5-alpha-steroid 4-dehydrogenase (NADP(+)), 3-oxo-5-alpha-steroid 4-dehydrogenase 3, S5AR 3, SR type 3, probable polyprenol reductase,
• Gene location: 4q12 (55346227: 55373099)     Exons: 6     NC_000004.12
• Gene summary(Entrez): 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-androge
• OMIM: 611715

Protein Summary

• Protein general information: Q9H8P0  
  • Name: Polyprenol reductase (EC 1.3.1.94) (3 oxo 5 alpha steroid 4 dehydrogenase 3) (EC 1.3.1.22) (Steroid 5 alpha reductase 2 like) (Steroid 5 alpha reductase 3) (S5AR 3) (SR type 3)
  • Length: 318  
  • Mass: 36521
  • Tissue specificity: Overexpressed in hormone-refractory prostate cancers (HRPC). Almost no or little expression in normal adult organs. {ECO
• Sequence:

  MAPWAEAEHSALNPLRAVWLTLTAAFLLTLLLQLLPPGLLPGCAIFQDLIRYGKTKCGEPSRPAACRAFDVPKRY
  FSHFYIISVLWNGFLLWCLTQSLFLGAPFPSWLHGLLRILGAAQFQGGELALSAFLVLVFLWLHSLRRLFECLYV
  SVFSNVMIHVVQYCFGLVYYVLVGLTVLSQVPMDGRNAYITGKNLLMQARWFHILGMMMFIWSSAHQYKCHVILG
  NLRKNKAGVVIHCNHRIPFGDWFEYVSSPNYLAELMIYVSMAVTFGFHNLTWWLVVTNVFFNQALSAFLSHQFYK
  SKFVSYPKHRKAFLPFLF

• Structural information:
  • Interpro: IPR001104  IPR039698  
  • Prosite: PS50244
  • STRING: ENSP00000264228
• Other Databases: GeneCards:  SRD5A3  Malacards:  SRD5A3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003865	3-oxo-5-alpha-steroid 4-dehydrogenase activity	IBA	molecular function
GO:0005783	endoplasmic reticulum	IBA	cellular component
GO:0006488	dolichol-linked oligosaccharide biosynthetic process	IBA	biological process
GO:0016095	polyprenol catabolic process	IBA	biological process
GO:0019408	dolichol biosynthetic process	IBA	biological process
GO:0019348	dolichol metabolic process	IDA	biological process
GO:0016628	oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor	IDA	molecular function
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0003865	3-oxo-5-alpha-steroid 4-dehydrogenase activity	IDA	molecular function
GO:0016095	polyprenol catabolic process	IDA	biological process
GO:0006488	dolichol-linked oligosaccharide biosynthetic process	IMP	biological process
GO:0003865	3-oxo-5-alpha-steroid 4-dehydrogenase activity	IEA	molecular function
GO:0006488	dolichol-linked oligosaccharide biosynthetic process	IEA	biological process
GO:0006629	lipid metabolic process	IEA	biological process
GO:0016627	oxidoreductase activity, acting on the CH-CH group of donors	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0047751	cholestenone 5-alpha-reductase activity	IEA	molecular function
GO:0102389	polyprenol reductase activity	IEA	molecular function
GO:0006702	androgen biosynthetic process	TAS	biological process
GO:0016628	oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor	TAS	molecular function
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0006489	dolichyl diphosphate biosynthetic process	TAS	biological process
GO:0019348	dolichol metabolic process	IEA	biological process
GO:0006488	dolichol-linked oligosaccharide biosynthetic process	IEA	biological process
GO:0016095	polyprenol catabolic process	IEA	biological process
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0006486	protein glycosylation	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa00510	N-Glycan biosynthesis
hsa00140	Steroid hormone biosynthesis

Diseases

Associated diseases	References
Congenital disorders of glycosylation type I	KEGG:H00118
Congenital disorders of glycosylation type I	KEGG:H00118
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray