Srd5a1 steroid 5 alpha-reductase 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Srd5a1provided by MGI
Official Full Name: steroid 5 alpha-reductase 1provided by MGI
Primary source: MGI:MGI:98400
See related: Ensembl:ENSMUSG00000021594 AllianceGenome:MGI:98400
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: S5AR 1; Srd5a-1; 0610031P22Rik; 4930435F02Rik
Summary: Enables 3-oxo-5-alpha-steroid 4-dehydrogenase activity. Acts upstream of or within androgen biosynthetic process. Predicted to be located in several cellular components, including cell body fiber; neuronal cell body; and perinuclear region of cytoplasm. Is expressed in alimentary system; genitourinary system; hypothalamus; and liver. Human ortholog(s) of this gene implicated in prostate cancer and prostatic hypertrophy. Orthologous to human SRD5A1 (steroid 5 alpha-reductase 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in bladder adult (RPKM 34.1), ovary adult (RPKM 15.4) and 20 other tissues See more
Orthologs: human all
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Genomic context

Location:: 13 B3; 13 35.55 cM

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	13	NC_000079.7 (69721568..69759611, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	13	NC_000079.6 (69573449..69611485, complement)

Chromosome 13 - NC_000079.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

A role for steroid 5 alpha-reductase 1 in vascular remodeling during endometrial decidualization.
Title: A role for steroid 5 alpha-reductase 1 in vascular remodeling during endometrial decidualization.
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.
Prostate 5aR1 levels were positively correlated with adjusted prostate most severe lesion scores. Downregulation of androgen receptor and 5alpha-reductase 2, along with upregulation of 5a-reductase 1 in tumors may promote prostatic intraepithelial neoplasia and prostate cancer development in TRAMP mice
Title: 5α-reductase 1 mRNA levels are positively correlated with TRAMP mouse prostate most severe lesion scores.
Exaggerated predisposition to metabolic disorders in female mice, compared with that seen in male mice, after disruption of 5alphaR1 suggests phenotypic changes may be underpinned by altered metabolism of glucocorticoids rather than androgens.
Title: Metabolic dysfunction in female mice with disruption of 5α-reductase 1.
the Srd5a1 gene modulates ethanol consumption in a sex-dependent manner that is also contingent upon ethanol access condition and concentration
Title: Null mutation of 5α-reductase type I gene alters ethanol consumption patterns in a sex-dependent manner.
deletion of the Srd5a1 gene significantly decreased ethanol's anxiolytic effect in female mice, and chronic ethanol withdrawal severity was lower in female versus male mice
Title: Sex Differences in Ethanol's Anxiolytic Effect and Chronic Ethanol Withdrawal Severity in Mice with a Null Mutation of the 5α-Reductase Type 1 Gene.
transcription of srd5a1 in brain is regulated by environmental factor-induced cytosine methylation in the promoter region.
Title: DNA methylation of the GC box in the promoter region mediates isolation rearing-induced suppression of srd5a1 transcription in the prefrontal cortex.
The effects of deficiency or inhibition of S5AR1 on the risk of liver disease and insulin resistance in male rats and mice are reported.
Title: 5α-Reductase type 1 deficiency or inhibition predisposes to insulin resistance, hepatic steatosis, and liver fibrosis in rodents.
The deletion of Type One 5alpha-reductase among female mice attenuates reproductive responding during the estrous cycle.
Title: Female mice with deletion of Type One 5α-reductase have reduced reproductive responding during proestrus and after hormone-priming.
These studies showed that 5alphaR1 deletion accelerates the development of hepatic steatosis but may protect against the development of nonalcoholic fatty liver disease-related hepatocellular neoplasia.
Title: Loss of 5α-reductase type 1 accelerates the development of hepatic steatosis but protects against hepatocellular carcinoma in male mice.

Submit: New GeneRIF Correction See all GeneRIFs (16)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (1) 1 citation

General gene information

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Markers

NoName (e-PCR)
- UniSTS:493121

Srd5a1 (e-PCR), detects polymorphism
- UniSTS:144507

Gene Ontology Provided by MGI

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	IMP Inferred from Mutant Phenotype more info	PubMed
enables 3-oxo-5-alpha-steroid 4-dehydrogenase activity	ISO Inferred from Sequence Orthology more info
enables 3-oxo-5alpha-steroid 4-dehydrogenase (NADP+) activity	IEA Inferred from Electronic Annotation more info
enables NADPH binding	ISO Inferred from Sequence Orthology more info
enables amide binding	ISO Inferred from Sequence Orthology more info
enables oxidoreductase activity	IEA Inferred from Electronic Annotation more info
enables oxidoreductase activity, acting on the CH-CH group of donors	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within androgen biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in androgen biosynthetic process	ISO Inferred from Sequence Orthology more info
involved_in androgen catabolic process	ISO Inferred from Sequence Orthology more info
involved_in androgen metabolic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within cell differentiation	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within lipid metabolic process	IEA Inferred from Electronic Annotation more info
involved_in lipid metabolic process	IEA Inferred from Electronic Annotation more info
involved_in progesterone metabolic process	ISO Inferred from Sequence Orthology more info
involved_in response to xenobiotic stimulus	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within sex differentiation	IEA Inferred from Electronic Annotation more info
involved_in steroid biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in steroid biosynthetic process	ISO Inferred from Sequence Orthology more info
involved_in steroid metabolic process	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cell body fiber	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum	IEA Inferred from Electronic Annotation more info
located_in intracellular membrane-bounded organelle	IEA Inferred from Electronic Annotation more info
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in neuronal cell body	ISO Inferred from Sequence Orthology more info
located_in perinuclear region of cytoplasm	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: 3-oxo-5-alpha-steroid 4-dehydrogenase 1

Names: SR type 1; type 1 5alpha-reductase

NP_780492.2

EC 1.3.1.22

XP_006517536.1

EC 1.3.1.22

XP_006517537.1

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_175283.3 → NP_780492.2 3-oxo-5-alpha-steroid 4-dehydrogenase 1

See identical proteins and their annotated locations for NP_780492.2

Status: VALIDATED

Source sequence(s)

BB585840, BC079863

Consensus CDS

CCDS26624.1

UniProtKB/Swiss-Prot

Q505K7, Q68FF9

UniProtKB/TrEMBL

A0A0R4J136

Related

ENSMUSP00000089097.6, ENSMUST00000091514.6

Conserved Domains (1) summary

pfam02544
Location:106 → 255

Steroid_dh; 3-oxo-5-alpha-steroid 4-dehydrogenase

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000079.7 Reference GRCm39 C57BL/6J

Range

69721568..69759611 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006517474.5 → XP_006517537.1 3-oxo-5-alpha-steroid 4-dehydrogenase 1 isoform X2

UniProtKB/TrEMBL

Q14C33

Conserved Domains (1) summary

cl21511
Location:106 → 184

PEMT; Phospholipid methyltransferase
XM_006517473.5 → XP_006517536.1 3-oxo-5-alpha-steroid 4-dehydrogenase 1 isoform X1

See identical proteins and their annotated locations for XP_006517536.1

UniProtKB/TrEMBL

Q14C33, Q8BUR8

Related

ENSMUST00000059235.9

Conserved Domains (1) summary

cl21511
Location:106 → 183

PEMT; Phospholipid methyltransferase