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

Gene ID: 78925, updated on 5-Mar-2024

Summary

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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

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See Srd5a1 in Genome Data Viewer
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_000079.7Genomic Context describing neighboring genes Neighboring gene RIKEN cDNA A530095I07 gene Neighboring gene STARR-seq mESC enhancer starr_34938 Neighboring gene RAB geranylgeranyl transferase, b subunit pseudogene Neighboring gene STARR-seq mESC enhancer starr_34939 Neighboring gene NOL1/NOP2/Sun domain family member 2 Neighboring gene importin 7 pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. Metabolic dysfunction in female mice with disruption of 5α-reductase 1. Livingstone DE, et al. J Endocrinol, 2017 Jan. PMID 27647861, Free PMC Article
  2. DNA methylation of the GC box in the promoter region mediates isolation rearing-induced suppression of srd5a1 transcription in the prefrontal cortex. Araki R, et al. Neurosci Lett, 2015 Oct 8. PMID 26314512
  3. The role of adrenal gland microenvironment in the HPA axis function and dysfunction during sepsis. Kanczkowski W, et al. Mol Cell Endocrinol, 2015 Jun 15. PMID 25543020
  4. Null mutation of 5α-reductase type I gene alters ethanol consumption patterns in a sex-dependent manner. Ford MM, et al. Behav Genet, 2015 May. PMID 25416204, Free PMC Article
  5. 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. Tanchuck-Nipper MA, et al. Behav Genet, 2015 May. PMID 25355320, Free PMC Article

See all (54) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. 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.
  9. 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.
  10. 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)

Pathways from PubChem

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General gene information

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Markers

Homology

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
XP_006517536.1
XP_006517537.1

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)

  1. 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

  1. NC_000079.7 Reference GRCm39 C57BL/6J

    Range
    69721568..69759611 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. 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

  2. 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
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q68FF9.2 GenPept UniProtKB/Swiss-Prot:Q68FF9

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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