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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
  • Alliance
    gene page
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr9:20681353-20726363 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 9, 7.63 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    1173 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1858212
 protein coding gene Chr9:20681346-20726363 (-)
129S1/SvImJ MGP_129S1SvImJ_G0034426
 protein coding gene Chr9:17928229-17976538 (-)
A/J MGP_AJ_G0034404
 protein coding gene Chr9:17638082-17684148 (-)
AKR/J MGP_AKRJ_G0034331
 protein coding gene Chr9:17956176-18001137 (-)
BALB/cJ MGP_BALBcJ_G0034395
 protein coding gene Chr9:17537832-17583777 (-)
C3H/HeJ MGP_C3HHeJ_G0034107
 protein coding gene Chr9:18271131-18316703 (-)
C57BL/6NJ MGP_C57BL6NJ_G0034916
 protein coding gene Chr9:18649811-18696697 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0031846
 protein coding gene Chr9:16770006-16815914 (-)
CAST/EiJ MGP_CASTEiJ_G0033430
 protein coding gene Chr9:18091272-18139083 (-)
CBA/J MGP_CBAJ_G0034080
 protein coding gene Chr9:19370277-19417852 (-)
DBA/2J MGP_DBA2J_G0034239
 protein coding gene Chr9:17629052-17673846 (-)
FVB/NJ MGP_FVBNJ_G0034182
 protein coding gene Chr9:17130792-17177783 (-)
LP/J MGP_LPJ_G0034324
 protein coding gene Chr9:18111361-18158706 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0034225
 protein coding gene Chr9:20996140-21044021 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0034936
 protein coding gene Chr9:17909464-17956509 (-)
PWK/PhJ MGP_PWKPhJ_G0033136
 protein coding gene Chr9:17594238-17641007 (-)
SPRET/EiJ MGP_SPRETEiJ_G0032970
 protein coding gene Chr9:17954150-18000942 (-)
WSB/EiJ MGP_WSBEiJ_G0033545
 protein coding gene Chr9:17641868-17686691 (-)



Homology
more
  • Human Ortholog
    COL5A3, collagen type V alpha 3 chain
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    COL5A3, collagen type V alpha 3 chain
  • Links
    NCBI Gene ID: 50509
    neXtProt AC: NX_P25940
    UniProt: P25940

  • Chr Location
    19p13.2; chr19:9959561-10010504 (-)  GRCh38
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    20 phenotypes from 1 allele in 1 genetic background
    1 images
    4 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.
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
less
  • All GO Annotations
    13
  • GO References
    4
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    796
  • Tissues
    49
  • cDNA Data
    24
  • Literature Summary
    14
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 53867 NCBI Gene Model | MGI Sequence Detail 45011 C57BL/6J ±  kb
    transcript NM_016919 RefSeq | MGI Sequence Detail 6135 C57BL/6  
    polypeptide NP_058615 RefSeq | MGI Sequence Detail 1739 C57BL/6  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      3 Sequences
    • InterPro Domains
      IPR050149 Collagen superfamily
      IPR008160 Collagen triple helix repeat
      IPR013320 Concanavalin A-like lectin/glucanase domain superfamily
      IPR000885 Fibrillar collagen, C-terminal
      IPR001791 Laminin G domain
      IPR048287 Thrombospondin-like, N-terminal domain
    • GlyGen
      Q9JLI2 1 site, 1 N-linked glycan (1 site)
    Molecular
    Reagents
    less
    • All nucleic 27
      Genomic 1
      cDNA 24
      Primer pair 2

      Microarray probesets 4
    References
    more
    • Summaries
      All 33
      Developmental Gene Expression 14
      Gene Ontology 4
      Phenotypes 4
    • 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:335095 Lipp SN, et al., FOXD1 is required for 3D patterning of the kidney interstitial matrix. Dev Dyn. 2023 Apr;252(4):463-482
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    12/10/2024
    MGI 6.24     		The Jackson Laboratory