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
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
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_000005.10 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?

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.
Studies indicate that enhanced 5alpha-reductase activity in subjects with polycystic ovary syndrome (PCOS) was associated with insulin resistance (IR) rather than obesity.
Title: 5α-reductase activity in women with polycystic ovary syndrome: a systematic review and meta-analysis.
Although 4-dione is the main source of 5alpha-dihydrotestosterone in human preadipocytes, production of this steroid by 5 alpha-reductase isoenzymes (SRD5A1, 2 and 3) mediates the inhibitory effect of both 4-dione and testosterone on preadipocyte differentiation.
Title: Characterization of 5α-reductase activity and isoenzymes in human abdominal adipose tissues.
SRD5A1 small-interfering RNA knockdown led to significant increase in progesterone receptor-B nuclear import, ectopic, whereas SRD5A1 overexpression resulted in remarkable inhibition of nuclear progesterone receptor-B in P4-treated cells. Repression of SRD5A1 activated progesterone receptor-B responsive gene, whereas overexpression of SRD5A1 possessed an inhibitory effect.
Title: Negative Effects of SRD5A1 on Nuclear Activity of Progesterone Receptor Isoform B in JEG3 Cells.
the genotypic distribution of 22 single nucleotide polymorphisms in SRD5A1 and SRD5A2 in a set of Spanish prostate cancer patients, were evaluated.
Title: Intraethnic variation in steroid-5-alpha-reductase polymorphismsin prostate cancer patients: a potential factor implicated in 5-alpha-reductase inhibitor treatment.

Submit: New GeneRIF Correction See all GeneRIFs (62)

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

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

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

Homology

Homologs of the SRD5A1 gene: The SRD5A1 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, S.pombe, M.oryzae, A.thaliana, rice, and frog.
Orthologs from Annotation Pipeline: 344 organisms have orthologs with human gene SRD5A1
Orthologs

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

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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.

mRNA and Protein(s)

NM_001047.4 → NP_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:110 → 259

Steroid_dh; 3-oxo-5-alpha-steroid 4-dehydrogenase
NM_001324322.2 → NP_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:106 → 212

Steroid_dh; 3-oxo-5-alpha-steroid 4-dehydrogenase
NM_001324323.2 → NP_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