Format

Send to:

Choose Destination

SRD5A1 steroid 5 alpha-reductase 1 [ Homo sapiens (human) ]

Gene ID: 6715, updated on 2-Mar-2021

Summary

Official Symbol
SRD5A1provided by HGNC
Official Full Name
steroid 5 alpha-reductase 1provided by HGNC
Primary source
HGNC:HGNC:11284
See related
Ensembl:ENSG00000145545 MIM:184753
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
S5AR 1
Summary
Steroid 5-alpha-reductase (EC 1.3.99.5) catalyzes the conversion of testosterone into the more potent androgen, dihydrotestosterone (DHT). Also see SRD5A2 (MIM 607306).[supplied by OMIM, Mar 2008]
Expression
Broad expression in esophagus (RPKM 13.2), skin (RPKM 10.7) and 24 other tissues See more
Orthologs
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See SRD5A1 in Genome Data Viewer
Location:
5p15.31
Exon count:
7
Annotation release Status Assembly Chr Location
109.20210226 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (6633440..6674386)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (6633553..6674499)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 1018 Neighboring gene NOP2/Sun RNA methyltransferase 2 Neighboring gene long intergenic non-protein coding RNA 2102 Neighboring gene terminal nucleotidyltransferase 4A

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?

Phenotypes

Associated conditions

Description Tests
Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
GeneReviews: Not available
Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13).
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
3-oxo-5-alpha-steroid 4-dehydrogenase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
3-oxo-5-alpha-steroid 4-dehydrogenase activity IDA
Inferred from Direct Assay
more info
PubMed 
NADPH binding IEA
Inferred from Electronic Annotation
more info
 
amide binding IEA
Inferred from Electronic Annotation
more info
 
cholestenone 5-alpha-reductase activity IEA
Inferred from Electronic Annotation
more info
 
electron transfer activity TAS
Traceable Author Statement
more info
PubMed 
oxidoreductase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
androgen biosynthetic process TAS
Traceable Author Statement
more info
 
androgen catabolic process IEA
Inferred from Electronic Annotation
more info
 
bone development IEA
Inferred from Electronic Annotation
more info
 
cell differentiation IEA
Inferred from Electronic Annotation
more info
 
cellular response to cAMP IEA
Inferred from Electronic Annotation
more info
 
cellular response to dexamethasone stimulus IEA
Inferred from Electronic Annotation
more info
 
cellular response to epinephrine stimulus IEA
Inferred from Electronic Annotation
more info
 
cellular response to estradiol stimulus IEA
Inferred from Electronic Annotation
more info
 
cellular response to growth factor stimulus IEA
Inferred from Electronic Annotation
more info
 
cellular response to insulin stimulus IEA
Inferred from Electronic Annotation
more info
 
cellular response to starvation IEA
Inferred from Electronic Annotation
more info
 
cellular response to testosterone stimulus IEA
Inferred from Electronic Annotation
more info
 
cerebral cortex development IEA
Inferred from Electronic Annotation
more info
 
circadian sleep/wake cycle, REM sleep IEA
Inferred from Electronic Annotation
more info
 
diterpenoid metabolic process IEA
Inferred from Electronic Annotation
more info
 
electron transport chain IEA
Inferred from Electronic Annotation
more info
 
female genitalia development IEA
Inferred from Electronic Annotation
more info
 
hippocampus development IEA
Inferred from Electronic Annotation
more info
 
hypothalamus development IEA
Inferred from Electronic Annotation
more info
 
liver development IEA
Inferred from Electronic Annotation
more info
 
male genitalia development IEA
Inferred from Electronic Annotation
more info
 
male gonad development IEA
Inferred from Electronic Annotation
more info
 
pituitary gland development IEA
Inferred from Electronic Annotation
more info
 
progesterone metabolic process IEA
Inferred from Electronic Annotation
more info
 
response to drug IEA
Inferred from Electronic Annotation
more info
 
response to estrogen IEA
Inferred from Electronic Annotation
more info
 
response to follicle-stimulating hormone IEA
Inferred from Electronic Annotation
more info
 
response to fungicide IEA
Inferred from Electronic Annotation
more info
 
response to growth hormone IEA
Inferred from Electronic Annotation
more info
 
response to muscle activity IEA
Inferred from Electronic Annotation
more info
 
serotonin metabolic process IEA
Inferred from Electronic Annotation
more info
 
sex determination NAS
Non-traceable Author Statement
more info
PubMed 
spinal cord development IEA
Inferred from Electronic Annotation
more info
 
steroid biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
thalamus development IEA
Inferred from Electronic Annotation
more info
 
urogenital system development IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cell body fiber IEA
Inferred from Electronic Annotation
more info
 
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
myelin sheath IEA
Inferred from Electronic Annotation
more info
 
neuronal cell body IEA
Inferred from Electronic Annotation
more info
 
perinuclear region of cytoplasm IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
3-oxo-5-alpha-steroid 4-dehydrogenase 1
Names
SR type 1
steroid 5-alpha-reductase type I
steroid-5-alpha-reductase, alpha polypeptide 1 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 1)
NP_001038.1
NP_001311251.1
NP_001311252.1

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.

mRNA and Protein(s)

  1. NM_001047.4NP_001038.1  3-oxo-5-alpha-steroid 4-dehydrogenase 1 isoform 1

    See identical proteins and their annotated locations for NP_001038.1

    Status: VALIDATED

    Source sequence(s)
    AC010366, AF052126, BC007033, DA170063, M32313
    Consensus CDS
    CCDS3870.1
    UniProtKB/Swiss-Prot
    P18405
    Related
    ENSP00000274192.5, ENST00000274192.7
    Conserved Domains (1) summary
    pfam02544
    Location:110259
    Steroid_dh; 3-oxo-5-alpha-steroid 4-dehydrogenase
  2. NM_001324322.2NP_001311251.1  3-oxo-5-alpha-steroid 4-dehydrogenase 1 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC010366, AF052126, BC006373, BC008673, DA170063, M32313
    UniProtKB/Swiss-Prot
    P18405
    Conserved Domains (1) summary
    pfam02544
    Location:106212
    Steroid_dh; 3-oxo-5-alpha-steroid 4-dehydrogenase
  3. NM_001324323.2NP_001311252.1  3-oxo-5-alpha-steroid 4-dehydrogenase 1 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC010366, AF052126, AK297208, BC008673, CV570670, M32313
    UniProtKB/Swiss-Prot
    P18405
    UniProtKB/TrEMBL
    B7Z4D8

RNA

  1. NR_136739.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC010366, AF052126, BC007033, DA170063, M32313

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210226

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

    Range
    6633440..6674386
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Support Center