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

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; AllianceGenome:HGNC:11284
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: mouse all
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Genomic context

Location:: 5p15.31

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (6633440..6674386)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (6564115..6605062)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (6633553..6674499)

Chromosome 5 - NC_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Epigenetic regulation of 5alpha reductase-1 underlies adaptive plasticity of reproductive function and pubertal timing.
Title: Epigenetic regulation of 5α reductase-1 underlies adaptive plasticity of reproductive function and pubertal timing.
Steroid Metabolism in Children and Adolescents With Obesity and Insulin Resistance: Altered SRD5A and 20alpha/20betaHSD Activity.
Title: Steroid Metabolism in Children and Adolescents With Obesity and Insulin Resistance: Altered SRD5A and 20α/20βHSD Activity.
Treatment of Benign Prostatic Hyperplasia by Natural Drugs.
Title: Treatment of Benign Prostatic Hyperplasia by Natural Drugs.
Suppression of steroid 5alpha-reductase type I promotes cellular apoptosis and autophagy via PI3K/Akt/mTOR pathway in multiple myeloma.
Title: Suppression of steroid 5α-reductase type I promotes cellular apoptosis and autophagy via PI3K/Akt/mTOR pathway in multiple myeloma.
Expression in Escherichia Coli, Purification, and Functional Reconstitution of Human Steroid 5alpha-Reductases.
Title: Expression in Escherichia Coli, Purification, and Functional Reconstitution of Human Steroid 5α-Reductases.
Associations of SRD5A1 gene variants and testosterone with dysglycemia: Henan Rural Cohort study.
Title: Associations of SRD5A1 gene variants and testosterone with dysglycemia: Henan Rural Cohort study.
Deficiency or inhibition of 5alphaR1 predisposes men and mice to insulin resistance and fatty liver.
Title: Role of Hepatic Glucocorticoid Receptor in Metabolism in Models of 5αR1 Deficiency in Male Mice.
The study described in this article shows that selected SRD5A1 and SRD5A2 polymorphisms can alter the levels of metabolic and hormonal parameters in patients with BPH. Special attention should be paid to the SDR5A2 rs12470143 polymorphism, which is associated with a change in lipid profile, as well as with the inheritance and incidence rate of MetS among these patients.
Title: Molecular Analysis of the SRD5A1 and SRD5A2 Genes in Patients with Benign Prostatic Hyperplasia with Regard to Metabolic Parameters and Selected Hormone Levels.
Findings suggest that 5alpha-reductases (5-AR) isoenzymes could be explored as a therapeutic target for urothelial bladder cancer (UBC) with 5alpha-reductase inhibitors (5-ARI).
Title: The Genomic Alterations of 5α-Reductases and Their Inhibitor Finasteride's Effect in Bladder Cancer.
we demonstrated that AR, 5alphaR1 and 5alphaR2 immunoreactivity in bladder urothelial carcinoma cells significantly decreased with advanced tumor grade.
Title: Expression of AR, 5αR1 and 5αR2 in bladder urothelial carcinoma and relationship to clinicopathological factors.

Submit: New GeneRIF Correction See all GeneRIFs (66)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13). EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH41119 (e-PCR)
- UniSTS:88161

WI-18821 (e-PCR)
- UniSTS:64098

RH78527 (e-PCR)
- UniSTS:25232

SGC30358 (e-PCR)
- UniSTS:75666

D5S2373 (e-PCR)
- UniSTS:73452

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables 3-oxo-5-alpha-steroid 4-dehydrogenase activity	IBA Inferred from Biological aspect of Ancestor more info
enables 3-oxo-5-alpha-steroid 4-dehydrogenase activity	IDA Inferred from Direct Assay more info	PubMed
enables 3-oxo-5-alpha-steroid 4-dehydrogenase activity	TAS Traceable Author Statement more info
enables 3-oxo-5alpha-steroid 4-dehydrogenase (NADP+) activity	IEA Inferred from Electronic Annotation more info
enables NADPH binding	IEA Inferred from Electronic Annotation more info
enables amide binding	IEA Inferred from Electronic Annotation more info
enables electron transfer activity	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in androgen biosynthetic process	TAS Traceable Author Statement more info
involved_in androgen catabolic process	IEA Inferred from Electronic Annotation more info
involved_in bone development	IEA Inferred from Electronic Annotation more info
involved_in cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in cellular response to cAMP	IEA Inferred from Electronic Annotation more info
involved_in cellular response to dexamethasone stimulus	IEA Inferred from Electronic Annotation more info
involved_in cellular response to epinephrine stimulus	IEA Inferred from Electronic Annotation more info
involved_in cellular response to estradiol stimulus	IEA Inferred from Electronic Annotation more info
involved_in cellular response to growth factor stimulus	IEA Inferred from Electronic Annotation more info
involved_in cellular response to insulin stimulus	IEA Inferred from Electronic Annotation more info
involved_in cellular response to starvation	IEA Inferred from Electronic Annotation more info
involved_in cellular response to testosterone stimulus	IEA Inferred from Electronic Annotation more info
involved_in cerebral cortex development	IEA Inferred from Electronic Annotation more info
involved_in diterpenoid metabolic process	IEA Inferred from Electronic Annotation more info
involved_in female genitalia development	IEA Inferred from Electronic Annotation more info
involved_in hippocampus development	IEA Inferred from Electronic Annotation more info
involved_in hypothalamus development	IEA Inferred from Electronic Annotation more info
involved_in liver development	IEA Inferred from Electronic Annotation more info
involved_in male genitalia development	IEA Inferred from Electronic Annotation more info
involved_in male gonad development	IEA Inferred from Electronic Annotation more info
involved_in pituitary gland development	IEA Inferred from Electronic Annotation more info
involved_in progesterone metabolic process	IEA Inferred from Electronic Annotation more info
involved_in response to estrogen	IEA Inferred from Electronic Annotation more info
involved_in response to follicle-stimulating hormone	IEA Inferred from Electronic Annotation more info
involved_in response to fungicide	IEA Inferred from Electronic Annotation more info
involved_in response to growth hormone	IEA Inferred from Electronic Annotation more info
involved_in response to muscle activity	IEA Inferred from Electronic Annotation more info
involved_in response to xenobiotic stimulus	IEA Inferred from Electronic Annotation more info
involved_in serotonin metabolic process	IEA Inferred from Electronic Annotation more info
involved_in sex determination	NAS Non-traceable Author Statement more info	PubMed
involved_in spinal cord development	IEA Inferred from Electronic Annotation more info
involved_in steroid biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in thalamus development	IEA Inferred from Electronic Annotation more info
involved_in urogenital system development	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cell body fiber	IEA Inferred from Electronic Annotation more info
located_in endoplasmic reticulum membrane	TAS Traceable Author Statement more info
located_in neuronal cell body	IEA Inferred from Electronic Annotation more info
located_in perinuclear region of cytoplasm	IEA Inferred from Electronic Annotation more info

General protein information

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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

EC 1.3.1.22

NP_001311251.1

EC 1.3.1.22

NP_001311252.1

EC 1.3.1.22

NCBI Reference Sequences (RefSeq)

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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.