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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
Location & Maps
more
  • Sequence Map
    Chr2:27886425-28039514 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      153090 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 2, 19.38 cM, cytoband A2-B
  • Mapping Data
    13 experiments
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: HomoloGene, HGNC
  • Synonyms
    EDSC
  • Links
    NCBI Gene ID: 1289
    neXtProt AC: NX_P20908

  • Chr Location
    9q34.3; chr9:134641786-134844843 (+)  GRCh38.p2

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

Human Disease Mouse Models
       Ehlers-Danlos Syndrome, Classic Type   OMIM: 130000 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
    10 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.
  • All Mutations and Alleles
    5
  • Gene trapped
    1
  • Targeted
    4
  • Incidental Mutations
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
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000011567 VEGA Gene Model | MGI Sequence Detail 153090 C57BL/6J ±  kb
transcript OTTMUST00000027017 VEGA | MGI Sequence Detail 8406 Not Applicable  
polypeptide OTTMUSP00000012312 VEGA | MGI Sequence Detail 1838 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    1349 from dbSNP Build 142
  • RFLP
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 180
    cDNA 177
    Primer pair 2
    Other 1

    Microarray probesets 5
Other
Accession IDs
less
MGD-MRK-2071, MGI:2138923
References
more
  • Summaries
    All 78
    Developmental Gene Expression 29
    Diseases 2
    Gene Ontology 11
    Phenotypes 10
  • 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:223298 Park AC, et al., Homozygosity and Heterozygosity for Null Col5a2 Alleles Produce Embryonic Lethality and a Novel Classic Ehlers-Danlos Syndrome-Related Phenotype. Am J Pathol. 2015 Jul;185(7):2000-11

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
11/22/2016
MGI 6.06
The Jackson Laboratory