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

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, Dec 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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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)

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

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?

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.

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Variation

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Alleles

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

Gene trapped (1)
Targeted (3) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AW987574 (e-PCR)
- UniSTS:185627

NoName (e-PCR)
- UniSTS:492269

AV364670 (e-PCR)
- UniSTS:179185

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 polyprenal reductase activity	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 biosynthetic process	ISS Inferred from Sequence or Structural Similarity 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

EC 1.3.1.22

EC 1.3.1.94

XP_006535225.1

EC 1.3.1.22

EC 1.3.1.94

XP_036021275.1

EC 1.3.1.22

EC 1.3.1.94

XP_036021276.1

EC 1.3.1.22

EC 1.3.1.94

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_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

NC_000071.7 Reference GRCm39 C57BL/6J

Range

76285296..76303350

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
XM_036165383.1 → XP_036021276.1 polyprenol reductase isoform X3

Conserved Domains (1) summary

cl21511
Location:51 → 192

PEMT; Phospholipid methyltransferase
XM_006535162.1 → XP_006535225.1 polyprenol reductase isoform X1

Conserved Domains (1) summary

cl21511
Location:8 → 263

PEMT; Phospholipid methyltransferase