SRD5A3

SRD5A3
Identifiers
Aliases	SRD5A3, CDG1P, CDG1Q, KRIZI, SRD5A2L, SRD5A2L1, steroid 5 alpha-reductase 3
External IDs	OMIM: 611715; MGI: 1930252; HomoloGene: 41385; GeneCards: SRD5A3; OMA:SRD5A3 - orthologs
Gene location (Human) Chr. Chromosome 4 (human) Band 4q12 Start 55,346,213 bp End 55,373,100 bp
Gene location (Mouse) Chr. Chromosome 5 (mouse) Band 5|5 C3.3 Start 76,288,118 bp End 76,303,351 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in palpebral conjunctiva gallbladder olfactory zone of nasal mucosa mucosa of esophagus body of pancreas skin of thigh gingival epithelium gonad C1 segment epithelium of nasopharynx Top expressed in lumbar spinal ganglion granulocyte secondary oocyte zygote primary oocyte internal carotid artery yolk sac lip external carotid artery stroma of bone marrow More reference expression data BioGPS n/a
Gene ontology Molecular function oxidoreductase activity, acting on the CH-CH group of donors cholestenone 5-alpha-reductase activity oxidoreductase activity 3-oxo-5-alpha-steroid 4-dehydrogenase activity oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor polyprenol reductase activity Cellular component cytoplasm integral component of membrane endoplasmic reticulum membrane membrane endoplasmic reticulum Biological process lipid metabolism polyprenol catabolic process androgen biosynthetic process protein glycosylation dolichol metabolic process dolichyl diphosphate biosynthetic process dolichol-linked oligosaccharide biosynthetic process dolichol biosynthetic process Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 79644 57357 Ensembl ENSG00000128039 ENSMUSG00000029233 UniProt Q9H8P0 Q9WUP4 RefSeq (mRNA) NM_024592 NM_020611 RefSeq (protein) NP_078868 NP_065636 Location (UCSC) Chr 4: 55.35 – 55.37 Mb Chr 5: 76.29 – 76.3 Mb PubMed search
Wikidata
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Steroid 5-alpha-reductase 3, also known as 3-oxo-5-alpha-steroid 4-dehydrogenase 3, is an enzyme that in humans is encoded by the SRD5A3 gene. It is one of three forms of 5α-reductase. Unlike SRD5A1 and SRD5A2, SRD5A3 has no apparent form in androgen processing or signaling. Instead, SRD5A3 reduces polyprenol to dolichol, which is necessary for N-linked glycosylation of proteins and some lipids.

See also

• SRD5A3-CDG
• Congenital disorder of glycosylation
• Kahrizi syndrome, a syndrome caused by a mutation in this gene

Further reading

• Payne AH, Hales DB (Dec 2004). "Overview of steroidogenic enzymes in the pathway from cholesterol to active steroid hormones". Endocrine Reviews. 25 (6): 947–970. doi:10.1210/er.2003-0030. PMID 15583024.
• Cantagrel V, Lefeber DJ, Ng BG, Guan Z, Silhavy JL, Bielas SL, et al. (Jul 2010). "SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder". Cell. 142 (2): 203–217. doi:10.1016/j.cell.2010.06.001. PMC 2940322. PMID 20637498.