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Srd5a3 steroid 5 alpha-reductase 3 [ Mus musculus (house mouse) ]

Gene ID: 57357, updated on 2-Nov-2024

Summary

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Official Symbol
Srd5a3provided by MGI
Official Full Name
steroid 5 alpha-reductase 3provided by MGI
Primary source
MGI:MGI:1930252
See related
Ensembl:ENSMUSG00000029233 AllianceGenome:MGI:1930252
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
H5ar; S5AR 3; Srd5a2l; A430076C09; 1110025P14Rik; D730040M03Rik
Summary
Predicted to enable 3-oxo-5alpha-steroid 4-dehydrogenase (NADP+) activity and polyprenol reductase activity. Involved in dolichol metabolic process; dolichol-linked oligosaccharide biosynthetic process; and polyprenol catabolic process. Predicted to be located in endoplasmic reticulum membrane. Predicted to be active in endoplasmic reticulum. Is expressed in several structures, including alimentary system; brain; early embryo; genitourinary system; and hemolymphoid system gland. Human ortholog(s) of this gene implicated in Kahrizi syndrome and congenital disorder of glycosylation Iq. Orthologous to human SRD5A3 (steroid 5 alpha-reductase 3). [provided by Alliance of Genome Resources, Nov 2024]
Expression
Ubiquitous expression in adrenal adult (RPKM 34.2), ovary adult (RPKM 24.0) and 28 other tissues See more
Orthologs
human all
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Genomic context

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See Srd5a3 in Genome Data Viewer
Location:
5 C3.3; 5 40.5 cM
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 5 NC_000071.7 (76285296..76303350)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 5 NC_000071.6 (76140273..76155503)

Chromosome 5 - NC_000071.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer mm9_chr5:76444126-76444426 Neighboring gene predicted gene, 32780 Neighboring gene GABA(A) receptor-associated protein-like 2 pseudogene 5_758.1 Neighboring gene STARR-seq mESC enhancer starr_13441 Neighboring gene predicted gene, 33938 Neighboring gene transmembrane protein 165 Neighboring gene adenomatosis polyposis coli, pseudogene 1 Neighboring gene clock circadian regulator Neighboring gene ubiquitin-conjugating enzyme E2N, pseudogene 1

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 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. High N-glycan multiplicity is critical for neuronal adhesion and sensitizes the developing cerebellum to N-glycosylation defect. Medina-Cano D, et al. Elife, 2018 Oct 12. PMID 30311906, Free PMC Article
  2. SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder. Cantagrel V, et al. Cell, 2010 Jul 23. PMID 20637498, Free PMC Article
  3. The mouse Clock locus: sequence and comparative analysis of 204 kb from mouse chromosome 5. Wilsbacher LD, et al. Genome Res, 2000 Dec. PMID 11116088, Free PMC Article
  4. Peri-implantation lethality in mice carrying megabase-scale deletion on 5qc3.3 is caused by Exoc1 null mutation. Mizuno S, et al. Sci Rep, 2015 Sep 8. PMID 26346620, Free PMC Article
  5. Characterization of zygotic genome activation-dependent maternal mRNA clearance in mouse. Sha QQ, et al. Nucleic Acids Res, 2020 Jan 24. PMID 31777931, Free PMC Article

See all (27) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Srd5a3 mutation is lethal in mouse and results in an activation of the unfolded protein response pathway.
    Title: SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder.
Submit: New GeneRIF Correction

Variation

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Alleles

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

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables 3-oxo-5alpha-steroid 4-dehydrogenase (NADP+) activity ISO
Inferred from Sequence Orthology
more info
  
enables 3-oxo-5alpha-steroid 4-dehydrogenase (NADP+) activity ISS
Inferred from Sequence or Structural Similarity
more info
  
enables oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor ISO
Inferred from Sequence Orthology
more info
  
enables oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor ISS
Inferred from Sequence or Structural Similarity
more info
  
enables polyprenol reductase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables polyprenol reductase activity IEA
Inferred from Electronic Annotation
more info
  
enables polyprenol reductase activity ISO
Inferred from Sequence Orthology
more info
  
Process Evidence Code Pubs
involved_in dolichol biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in dolichol metabolic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in dolichol metabolic process ISO
Inferred from Sequence Orthology
more info
  
involved_in dolichol-linked oligosaccharide biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in dolichol-linked oligosaccharide biosynthetic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in dolichol-linked oligosaccharide biosynthetic process ISO
Inferred from Sequence Orthology
more info
  
involved_in polyprenol catabolic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in polyprenol catabolic process ISO
Inferred from Sequence Orthology
more info
  
Component Evidence Code Pubs
is_active_in endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in endoplasmic reticulum ISO
Inferred from Sequence Orthology
more info
  
located_in endoplasmic reticulum ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
polyprenal reductase; polyprenol reductase
Names
3-oxo-5-alpha-steroid 4-dehydrogenase 3
H5AR
SR type 3
probable polyprenol reductase
steroid 5 alpha-reductase 2 like
steroid 5 alpha-reductase 2-like; H5AR gene; steroid 5 alpha-reductase 2 like
NP_065636.2
XP_006535225.1
XP_036021275.1
XP_036021276.1

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_020611.4 → NP_065636.2  polyprenal reductase

    See identical proteins and their annotated locations for NP_065636.2

    Status: VALIDATED

    Source sequence(s)
    AI553072, AK075635, AK164282
    Consensus CDS
    CCDS19358.1
    UniProtKB/Swiss-Prot
    D3YZB6, D3Z3J5, Q3UU82, Q8BGE3, Q9WUP4
    Related
    ENSMUSP00000031143.7, ENSMUST00000031143.13
    Conserved Domains (1) summary
    cl21511
    Location:51 → 330
    PEMT; Phospholipid methyltransferase

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_000071.7 Reference GRCm39 C57BL/6J

    Range
    76285296..76303350
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_036165382.1 → XP_036021275.1  polyprenol reductase isoform X2

    UniProtKB/TrEMBL
    F6WPW1
    Related
    ENSMUSP00000109134.2, ENSMUST00000113506.2
    Conserved Domains (1) summary
    cl21511
    Location:23 → 213
    PEMT; Phospholipid methyltransferase

  2. XM_036165383.1 → XP_036021276.1  polyprenol reductase isoform X3

    Conserved Domains (1) summary
    cl21511
    Location:51 → 192
    PEMT; Phospholipid methyltransferase

  3. XM_006535162.1 → XP_006535225.1  polyprenol reductase isoform X1

    Conserved Domains (1) summary
    cl21511
    Location:8 → 263
    PEMT; Phospholipid methyltransferase
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9WUP4.2 GenPept UniProtKB/Swiss-Prot:Q9WUP4

Gene LinkOut

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