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Col3a1 Gene Detail
Summary
  • Symbol
    Col3a1
  • Name
    collagen, type III, alpha 1
  • Synonyms
    Col3a-1, Tsk2, Tsk-2
  • Feature Type
    protein coding gene
  • IDs
    MGI:88453
    NCBI Gene: 12825
  • Alliance
  • Transcription Start Sites
    6 TSS
Location &
Maps
more
  • Sequence Map
    Chr1:45311538-45349706 bp, + strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 1, 23.67 cM
  • Mapping Data
    22 experiments
Strain
Comparison
more
  • SNPs within 2kb
    259 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_88453
protein coding gene Chr1:45311538-45349706 (.)
129S1/SvImJ MGP_129S1SvImJ_G0015992
protein coding gene Chr1:44333129-44385724 (+)
A/J MGP_AJ_G0015976
protein coding gene Chr1:42989212-43028390 (+)
AKR/J MGP_AKRJ_G0015931
protein coding gene Chr1:43616218-43654556 (+)
BALB/cJ MGP_BALBcJ_G0015930
protein coding gene Chr1:42615031-42654925 (+)
C3H/HeJ MGP_C3HHeJ_G0015763
protein coding gene Chr1:44003501-44047978 (+)
C57BL/6NJ MGP_C57BL6NJ_G0016383
protein coding gene Chr1:46187689-46232092 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0014105
protein coding gene Chr1:39696683-39734592 (+)
CAST/EiJ MGP_CASTEiJ_G0015344
protein coding gene Chr1:43908867-43949888 (+)
CBA/J MGP_CBAJ_G0015735
protein coding gene Chr1:47507405-47545210 (+)
DBA/2J MGP_DBA2J_G0015836
protein coding gene Chr1:42283954-42325802 (+)
FVB/NJ MGP_FVBNJ_G0015838
protein coding gene Chr1:41737556-41776245 (+)
LP/J MGP_LPJ_G0015906
protein coding gene Chr1:44695917-44738653 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0015858
protein coding gene Chr1:49605000-49649957 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0016430
protein coding gene Chr1:43800838-43841544 (+)
PWK/PhJ MGP_PWKPhJ_G0015127
protein coding gene Chr1:42076556-42116865 (+)
SPRET/EiJ MGP_SPRETEiJ_G0014909
protein coding gene Chr1:43823651-43867767 (+)
WSB/EiJ MGP_WSBEiJ_G0015406
protein coding gene Chr1:43782459-43830108 (+)



Homology
more
  • Human Ortholog
    COL3A1, collagen type III alpha 1 chain
  • Vertebrate Orthologs
    7
  • Human Ortholog
    COL3A1, collagen type III alpha 1 chain
    Orthology source: HomoloGene, HGNC
  • Synonyms
    EDS4A, EDSVASC
  • Links
    NCBI Gene ID: 1281
    neXtProt AC: NX_P02461
    UniProt: P02461

  • Chr Location
    2q32.2; chr2:188974373-189012746 (+)  GRCh38.p7

Human Diseases
more
  • Diseases
    2 with Col3a1 mouse models; 1 with human COL3A1 associations

Human Disease Mouse Models
      
IDs
View 2 models
      
IDs
View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    3 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    28 phenotypes from 3 alleles in 5 genetic backgrounds
    3 images
    18 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Most homozygous mutants die within 48 hours after birth. Surviving mutants have reduced body size, skin lesions, enlarged intestines, and die by 6 months of age from ruptured blood vessels. Occasionally intestinal rupture also results in early death. Heterozygotes exhibit tight skin.
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
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 12825 NCBI Gene Model | MGI Sequence Detail 38169 C57BL/6J ±  kb
    transcript NM_009930 RefSeq | MGI Sequence Detail 5564 C57BL/6  
    polypeptide P08121 UniProt | EBI | MGI Sequence Detail 1464 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 1149
      Genomic 6
      cDNA 1138
      Primer pair 4
      Other 1

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-15277, MGD-MRK-15278, MGD-MRK-2064, MGD-MRK-2065, MGI:2138608, MGI:98851
    References
    more
    • Summaries
      All 165
      Developmental Gene Expression 82
      Diseases 3
      Gene Ontology 21
      Phenotypes 18
    • Earliest
      J:20241 Liau G, et al., Coordinate regulation of the levels of type III and type I collagen mRNA in most but not all mouse fibroblasts. J Biol Chem. 1985 Jan 10;260(1):531-6
    • Latest
      J:264139 Mead TJ, et al., The metalloproteinase-proteoglycans ADAMTS7 and ADAMTS12 provide an innate, tendon-specific protective mechanism against heterotopic ossification. JCI Insight. 2018 Apr 5;3(7)

    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
    11/13/2018
    MGI 6.13
    The Jackson Laboratory