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Col5a1 Gene Detail
Summary
  • Symbol
    Col5a1
  • Name
    collagen, type V, alpha 1
  • Feature Type
    protein coding gene
  • IDs
    MGI:88457
    NCBI Gene: 12831
  • Alliance
  • Transcription Start Sites
    7 TSS
Location &
Maps
more
  • Sequence Map
    Chr2:27886425-28039514 bp, + strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 2, 19.38 cM, cytoband A2-B
  • Mapping Data
    13 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1349 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_88457
protein coding gene Chr2:27886395-28039514 (.)
129S1/SvImJ MGP_129S1SvImJ_G0025517
protein coding gene Chr2:25889486-26049391 (+)
A/J MGP_AJ_G0025494
protein coding gene Chr2:24934317-25088036 (+)
AKR/J MGP_AKRJ_G0025464
protein coding gene Chr2:25763267-25918294 (+)
BALB/cJ MGP_BALBcJ_G0025490
protein coding gene Chr2:25051203-25206766 (+)
C3H/HeJ MGP_C3HHeJ_G0025251
protein coding gene Chr2:25671115-25827264 (+)
C57BL/6NJ MGP_C57BL6NJ_G0025934
protein coding gene Chr2:26784873-26949071 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0023345
protein coding gene Chr2:23736295-23890003 (+)
CAST/EiJ MGP_CASTEiJ_G0024714
protein coding gene Chr2:25568599-25729162 (+)
CBA/J MGP_CBAJ_G0025229
protein coding gene Chr2:27699222-27870670 (+)
DBA/2J MGP_DBA2J_G0025362
protein coding gene Chr2:24746605-24899684 (+)
FVB/NJ MGP_FVBNJ_G0025324
protein coding gene Chr2:24511582-24672839 (+)
LP/J MGP_LPJ_G0025448
protein coding gene Chr2:25849331-26009252 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0025355
protein coding gene Chr2:27710628-27876004 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0025993
protein coding gene Chr2:25665157-25823379 (+)
PWK/PhJ MGP_PWKPhJ_G0024462
protein coding gene Chr2:24537698-24692880 (+)
SPRET/EiJ MGP_SPRETEiJ_G0024262
protein coding gene Chr2:25824666-25984369 (+)
WSB/EiJ MGP_WSBEiJ_G0024783
protein coding gene Chr2:25805504-25960797 (+)



Homology
more
  • Human Ortholog
    COL5A1, collagen type V alpha 1 chain
  • Vertebrate Orthologs
    6
  • Human Ortholog
    COL5A1, collagen type V alpha 1 chain
    Orthology source: HGNC, HomoloGene
  • Synonyms
    EDSC, EDSCL1
  • Links
    NCBI Gene ID: 1289
    neXtProt AC: NX_P20908
    UniProt: P20908

  • Chr Location
    9q34.3; chr9:134641790-134844843 (+)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with Col5a1 mouse models; 1 with human COL5A1 associations

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

  • Mutations/Alleles
    1 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    18 phenotypes from 2 alleles in 4 genetic backgrounds
    8 images
    13 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.
Homozygous mutation of this gene results in lethality around E10-11 due to cardiovascular insufficiency and lack of collagen fibril formation. Heterozygotes exhibit poorly organized and less dense fibers in the dermis and reduced skin tensile strength and are a model for Ehlers-Danlos Syndrome.
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 population 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 ENSMUSG00000026837 Ensembl Gene Model | MGI Sequence Detail 153090 C57BL/6J ±  kb
    transcript ENSMUST00000028280 Ensembl | MGI Sequence Detail 8406 Not Applicable  
    polypeptide ENSMUSP00000028280 Ensembl | MGI Sequence Detail 1838 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 182
      cDNA 178
      Primer pair 3
      Other 1

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGD-MRK-2071, MGI:2138923
    References
    more
    • Summaries
      All 94
      Developmental Gene Expression 35
      Diseases 2
      Gene Ontology 16
      Phenotypes 13
    • Earliest
      J:12787 Mattei MG, et al., Mouse alpha 1 type V collagen gene maps to the [A2-B] region of chromosome 2. Genomics. 1993 Jun;16(3):786-8
    • Latest
      J:262414 Baghdadi MB, et al., Reciprocal signalling by Notch-Collagen V-CALCR retains muscle stem cells in their niche. Nature. 2018 May;557(7707):714-718

    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
    12/04/2018
    MGI 6.13
    The Jackson Laboratory