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SRD5A3 steroid 5 alpha-reductase 3 [ Homo sapiens (human) ]

Gene ID: 79644, updated on 13-Mar-2020

Summary

Official Symbol
SRD5A3provided by HGNC
Official Full Name
steroid 5 alpha-reductase 3provided by HGNC
Primary source
HGNC:HGNC:25812
See related
Ensembl:ENSG00000128039 MIM:611715
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CDG1P; CDG1Q; KRIZI; SRD5A2L; SRD5A2L1
Summary
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]
Expression
Ubiquitous expression in gall bladder (RPKM 7.7), endometrium (RPKM 4.5) and 25 other tissues See more
Orthologs

Genomic context

See SRD5A3 in Genome Data Viewer
Location:
4q12
Exon count:
6
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (55346228..55373100)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (56212388..56239267)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 746, pseudogene Neighboring gene leucine rich repeat containing 34 pseudogene 2 Neighboring gene FCF1 pseudogene 8 Neighboring gene SRD5A3 antisense RNA 1 Neighboring gene uncharacterized LOC105377659 Neighboring gene transmembrane protein 165 Neighboring gene clock circadian regulator

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ13352

Gene Ontology Provided by GOA

Process Evidence Code Pubs
androgen biosynthetic process TAS
Traceable Author Statement
more info
 
dolichol biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
dolichol metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
dolichol-linked oligosaccharide biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
dolichol-linked oligosaccharide biosynthetic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
dolichyl diphosphate biosynthetic process TAS
Traceable Author Statement
more info
 
oxidation-reduction process IEA
Inferred from Electronic Annotation
more info
 
polyprenol catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
polyprenol catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
polyprenol reductase
Names
3-oxo-5-alpha-steroid 4-dehydrogenase (NADP(+))
3-oxo-5-alpha-steroid 4-dehydrogenase 3
S5AR 3
SR type 3
probable polyprenol reductase
NP_078868.1
XP_005265823.1
XP_005265824.1
XP_016864090.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_028230.1 RefSeqGene

    Range
    5022..31880
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_024592.5NP_078868.1  polyprenol reductase

    See identical proteins and their annotated locations for NP_078868.1

    Status: REVIEWED

    Source sequence(s)
    AC069200, AK023414, CX763068, DB532427
    Consensus CDS
    CCDS3498.1
    UniProtKB/Swiss-Prot
    Q9H8P0
    Related
    ENSP00000264228.4, ENST00000264228.9
    Conserved Domains (1) summary
    cl21511
    Location:69318
    PEMT; Phospholipid methyltransferase

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

    Range
    55346228..55373100
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005265767.3XP_005265824.1  polyprenol reductase isoform X3

    Related
    ENSP00000424714.1, ENST00000505210.1
    Conserved Domains (1) summary
    cl21511
    Location:129207
    PEMT; Phospholipid methyltransferase
  2. XM_005265766.4XP_005265823.1  polyprenol reductase isoform X2

    Conserved Domains (1) summary
    cl21511
    Location:69273
    PEMT; Phospholipid methyltransferase
  3. XM_017008601.1XP_016864090.1  polyprenol reductase isoform X1

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