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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
    genome feature 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
    19
  • 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 ENSMUSG00200052068
 protein coding gene Chr2:24742878-24895356 (+)
A/J ENSMUSG00195045849
 protein coding gene Chr2:24839095-24992198 (+)
AKR/J ENSMUSG00220048983
 protein coding gene Chr2:24956806-25109901 (+)
BALB/cJ ENSMUSG00180051932
 protein coding gene Chr2:24858098-25011205 (+)
C3H/HeJ ENSMUSG00175052859
 protein coding gene Chr2:24827401-24980492 (+)
C57BL/6NJ ENSMUSG00215048136
 protein coding gene Chr2:24886133-25039232 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0023345
 protein coding gene Chr2:23736295-23890003 (+)
CAST/EiJ ENSTCUG00005051727
 protein coding gene Chr2:24568836-24722447 (+)
CBA/J ENSMUSG00210017538
 protein coding gene Chr2:24861000-25014090 (+)
DBA/2J ENSMUSG00185044978
 protein coding gene Chr2:24753062-24906144 (+)
FVB/NJ ENSMUSG00205027268
 protein coding gene Chr2:24604853-24757956 (+)
JF1/MsJ ENSUMUG00000053723
 protein coding gene Chr2:24659835-24813710 (+)
LP/J ENSMUSG00230038338
 protein coding gene Chr2:26678772-26831240 (+)
NOD/ShiLtJ ENSMUSG00190049519
 protein coding gene Chr2:24853200-25010704 (+)
NZO/HlLtJ ENSMUSG00225008527
 protein coding gene Chr2:34429987-34583085 (+)
PWK/PhJ ENSLUMG00010047729
 protein coding gene Chr2:24737350-24890951 (+)
SPRET/EiJ ENSMSPG00010044553
 protein coding gene Chr2:25468775-25620422 (+)
WSB/EiJ ENSIUOG00005051395
 protein coding gene Chr2:24709222-24861438 (+)



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
    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
    22 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
    61
  • GO References
    20
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
    808
  • Tissues
    135
  • cDNA Data
    178
  • Literature Summary
    45
  • 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 196
      cDNA 179
      Primer pair 11
      Other 6
      Antibodies 7

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGD-MRK-2071, MGI:2138923
    References
    more
    • Summaries
      All 117
      Developmental Gene Expression 45
      Diseases 3
      Gene Ontology 20
      Phenotypes 22
    • 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:381868 Pham B, et al., Mechanical Compression Causes Lung Hypoplasia in Congenital Diaphragmatic Hernia with GATA4 Genetic Variants. Am J Physiol Lung Cell Mol Physiol. 2026 Mar 5;
    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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    Send questions and comments to User Support.     		last database update
    09/01/2026
    MGI 6.24     		The Jackson Laboratory