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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
    gene page
  • Transcription Start Sites
    14 TSS
Location &
Maps
more
  • Sequence Map
    Chr2:27776437-27929526 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 2, 19.38 cM, cytoband A2-B
  • Mapping Data
    13 experiments
Strain
Comparison
more
  • SNPs within 2kb
    4839 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    2
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_88457
 protein coding gene Chr2:27776393-27929526 (+)
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
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    COL5A1, collagen type V alpha 1 chain
  • Synonyms
    EDSC, EDSCL1, FMDMF
  • Links
    NCBI Gene ID: 1289
    neXtProt AC: NX_P20908
    UniProt: P20908

  • Chr Location
    9q34.3; chr9:134641803-134844843 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Col5a1 mouse models; 2 with human COL5A1 associations

Human Disease Mouse Models
      
IDs
 View 3 models
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    19 phenotypes from 3 alleles in 5 genetic backgrounds
    8 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
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.
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
less
  • All GO Annotations
    51
  • GO References
    16
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
    886
  • Tissues
    116
  • cDNA Data
    178
  • Literature Summary
    44
  • Comparison Matrix
    Gene Expression + Phenotype
    • 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 193
      cDNA 179
      Primer pair 10
      Other 4

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGD-MRK-2071, MGI:2138923
    References
    more
    • Summaries
      All 107
      Developmental Gene Expression 44
      Diseases 3
      Gene Ontology 16
      Phenotypes 18
    • 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:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
    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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    Send questions and comments to User Support.     		last database update
    12/10/2024
    MGI 6.24     		The Jackson Laboratory