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Col5a3 Gene Detail
Summary
  • Symbol
    Col5a3
  • Name
    collagen, type V, alpha 3
  • Synonyms
    Pro-alpha3(V)
  • Feature Type
    protein coding gene
  • IDs
    MGI:1858212
    NCBI Gene: 53867
Location & Maps
more
  • Sequence Map
    Chr9:20770050-20815067 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      45018 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    COL5A3, collagen type V alpha 3
  • Vertebrate Orthologs
    7
  • Human Ortholog
    COL5A3, collagen type V alpha 3
    Orthology source: HomoloGene
  • Links
    NCBI Gene ID: 50509
    neXtProt AC: NX_P25940

  • Chr Location
    19p13.2; chr19:9959561-10010538 (-)  GRCh38.p2

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    19 phenotypes from 1 allele in 1 genetic background
    2 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
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
tumorigenesis
vision/eye

Click cells to view annotations.
Mice homozygous for a null mutation show decreased pancreatic beta cell mass, hyperglycemia, hypoinsulinemia, impaired glucose tolerance, insulin resistance and impaired glucose uptake. Homozygous females show decreased susceptibility to diet-induced obesity and a thin hypodermal fat layer.
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 OTTMUSG00000022343 VEGA Gene Model | MGI Sequence Detail 45018 C57BL/6J ±  kb
transcript OTTMUST00000053292 VEGA | MGI Sequence Detail 6119 Not Applicable  
polypeptide OTTMUSP00000025338 VEGA | MGI Sequence Detail 1739 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    219 from dbSNP Build 137
  • PCR
Protein
Information
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  • UniProt
    3 Sequences
  • InterPro Domains
    IPR008160 Collagen triple helix repeat
    IPR013320 Concanavalin A-like lectin/glucanase domain
    IPR000885 Fibrillar collagen, C-terminal
    IPR001791 Laminin G domain
Molecular
Reagents
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  • All nucleic 26
    cDNA 24
    Primer pair 2

    Microarray probesets 4
References
more
  • Summaries
    All 26
    Developmental Gene Expression 10
    Gene Ontology 4
    Phenotypes 2
  • Earliest
    J:61325 Imamura Y, et al., The pro-alpha3(V) collagen chain. Complete primary structure, expression domains in adult and developing tissues, and comparison to the structures and expression domains of the other types V and XI procollagen chains. J Biol Chem. 2000 Mar 24;275(12):8749-59
  • Latest
    J:178171 Magenheim J, et al., Ngn3(+) endocrine progenitor cells control the fate and morphogenesis of pancreatic ductal epithelium. Dev Biol. 2011 Nov 1;359(1):26-36

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory