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Srd5a3 Gene Detail
Summary
  • Symbol
    Srd5a3
  • Name
    steroid 5 alpha-reductase 3
  • Synonyms
    1110025P14Rik, D730040M03Rik, Srd5a2l
  • Feature Type
    protein coding gene
  • IDs
    MGI:1930252
    NCBI Gene: 57357
  • Gene Overview
    MyGene.info: SRD5A3
Location & Maps
more
  • Sequence Map
    Chr5:76140271-76155504 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      15234 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 5, 40.50 cM
  • Mapping Data
    3 experiments
Homology
more
  • Human Ortholog
    SRD5A3, steroid 5 alpha-reductase 3
  • Vertebrate Orthologs
    10
  • Human Ortholog
    SRD5A3, steroid 5 alpha-reductase 3
    Orthology source: HomoloGene, HGNC
  • Synonyms
    CDG1P, CDG1Q, KRIZI, SRD5A2L, SRD5A2L1
  • Links
    NCBI Gene ID: 79644
    neXtProt AC: NX_Q9H8P0

  • Chr Location
    4q12; chr4:55346221-55373100 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    2 with human SRD5A3 associations

Human Disease Mouse Models
       Congenital Disorder of Glycosylation, Type Iq; CDG1Q   OMIM: 612379
Kahrizi Syndrome; KHRZ   OMIM: 612713
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    13 phenotypes from 2 alleles in 2 genetic backgrounds
    11 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    7
  • Chemically induced (other)
    2
  • Gene trapped
    1
  • Spontaneous
    1
  • Targeted
    3
  • Genomic Mutations
    3 involving Srd5a3
  • Incidental Mutations
Mice homozygous for a gene trapped allele exhibit embryonic lethality between E11.5 and E13.5 with open neural tubes, failure to turn, dilated hearts, and ventral body wall defects.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000025182 VEGA Gene Model | MGI Sequence Detail 15234 C57BL/6J ±  kb
transcript OTTMUST00000061989 VEGA | MGI Sequence Detail 1747 Not Applicable  
polypeptide OTTMUSP00000030509 VEGA | MGI Sequence Detail 330 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    221 from dbSNP Build 142
Protein
Information
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Molecular
Reagents
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  • All nucleic 16
    cDNA 15
    Primer pair 1

    Microarray probesets 8
Other
Accession IDs
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MGI:1923565, MGI:1925601, MGI:2141123, MGI:2141254
References
more
  • Summaries
    All 35
    Developmental Gene Expression 2
    Gene Ontology 5
    Phenotypes 11
  • Earliest
    J:66232 Wilsbacher LD, et al., The mouse clock locus: sequence and comparative analysis of 204 Kb from mouse chromosome 5. Genome Res. 2000 Dec;10(12):1928-40
  • Latest
    J:233978 Mizuno S, et al., Peri-implantation lethality in mice carrying megabase-scale deletion on 5qc3.3 is caused by Exoc1 null mutation. Sci Rep. 2015;5:13632

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
09/27/2016
MGI 6.05
The Jackson Laboratory