InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: SRD5A3

Summary

InnateDB Protein

IDBP-19304.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

SRD5A3

Protein Name

steroid 5 alpha-reductase 3

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000264228

InnateDB Gene

IDBG-19300 (SRD5A3)

Protein Structure

UniProt Annotation

Function

Plays a key role in early steps of protein N-linked glycosylation by being required for the conversion of polyprenol into dolichol. Dolichols are required for the synthesis of dolichol-linked monosaccharides and the oligosaccharide precursor used for N-glycosylation. Acts as a polyprenol reductase that promotes the reduction of the alpha-isoprene unit of polyprenols into dolichols in a NADP-dependent mechanism. Also able to convert testosterone (T) into 5-alpha-dihydrotestosterone (DHT). {ECO:0000269PubMed:17986282, ECO:0000269PubMed:20637498}.

Subcellular Localization

Endoplasmic reticulum membrane {ECO:0000305PubMed:20637498}; Multi-pass membrane protein {ECO:0000305PubMed:20637498}.

Disease Associations

Congenital disorder of glycosylation 1Q (CDG1Q) [MIM:612379]: A multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N- glycoproteins during embryonic development, differentiation, and maintenance of cell functions. {ECO:0000269PubMed:20637498, ECO:0000269PubMed:22240719}. Note=The disease is caused by mutations affecting the gene represented in this entry.Kahrizi syndrome (KHRZ) [MIM:612713]: An autosomal recessive neurodevelopmental disorder characterized by mental retardation, cataracts, coloboma, kyphosis, and coarse facial features. {ECO:0000269PubMed:20700148}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Overexpressed in hormone-refractory prostate cancers (HRPC). Almost no or little expression in normal adult organs. {ECO:0000269PubMed:17986282}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.

Experimentally validated
Total	2 [view]
Protein-Protein	2 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003865	3-oxo-5-alpha-steroid 4-dehydrogenase activity
GO:0016627	oxidoreductase activity, acting on the CH-CH group of donors
GO:0016628	oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor
GO:0047751	cholestenone 5-alpha-reductase activity

Biological Process

GO:0006488	dolichol-linked oligosaccharide biosynthetic process
GO:0006489	dolichyl diphosphate biosynthetic process
GO:0006629	lipid metabolic process
GO:0006702	androgen biosynthetic process
GO:0008202	steroid metabolic process
GO:0016095	polyprenol catabolic process
GO:0018279	protein N-linked glycosylation via asparagine
GO:0019348	dolichol metabolic process
GO:0043687	post-translational protein modification
GO:0044267	cellular protein metabolic process
GO:0044281	small molecule metabolic process
GO:0055114	oxidation-reduction process