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

    Gene ID: 79644, updated on 6-Jun-2024

    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; AllianceGenome:HGNC:25812
    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
    S5AR; CDG1P; CDG1Q; KRIZI; S5AR 3; 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
    NEW
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    Try the new Transcript table

    Genomic context

    See SRD5A3 in Genome Data Viewer
    Location:
    4q12
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (55346242..55373100)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (58834370..58861238)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (56212409..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 H3K27ac hESC enhancer GRCh37_chr4:56212130-56212890 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:56230743-56231431 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:56231432-56232119 Neighboring gene FCF1 pseudogene 8 Neighboring gene SRD5A3 antisense RNA 1 Neighboring gene long intergenic non-protein coding RNA 2928 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15438 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15439 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21574 Neighboring gene transmembrane protein 165 Neighboring gene Sharpr-MPRA regulatory region 15506 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

    Clone Names

    • FLJ13352

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    is_active_in endoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    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
    SR type 3
    probable polyprenol reductase
    NP_001397661.1
    NP_078868.1
    XP_005265824.1
    XP_016864090.1
    XP_054206797.1
    XP_054206798.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001410732.1NP_001397661.1  polyprenol reductase isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC064824, AC069200
      Consensus CDS
      CCDS93533.1
      UniProtKB/TrEMBL
      A0A7P0TBH6
      Related
      ENSP00000506601.1, ENST00000679836.1
    2. NM_024592.5NP_078868.1  polyprenol reductase isoform 1

      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
      Q4W5Q6, Q9H8P0
      Related
      ENSP00000264228.4, ENST00000264228.9
      Conserved Domains (1) summary
      cl21511
      Location:69318
      PEMT; Phospholipid methyltransferase

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      55346242..55373100
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005265767.4XP_005265824.1  polyprenol reductase isoform X2

      UniProtKB/TrEMBL
      H0Y9P9
      Related
      ENSP00000424714.1, ENST00000505210.1
      Conserved Domains (1) summary
      cl21511
      Location:129207
      PEMT; Phospholipid methyltransferase
    2. XM_017008601.2XP_016864090.1  polyprenol reductase isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      58834370..58861238
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054350823.1XP_054206798.1  polyprenol reductase isoform X2

      UniProtKB/TrEMBL
      H0Y9P9
    2. XM_054350822.1XP_054206797.1  polyprenol reductase isoform X1