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Col6a1 Gene Detail
Summary
  • Symbol
    Col6a1
  • Name
    collagen, type VI, alpha 1
  • Synonyms
    Col6a-1
  • Feature Type
    protein coding gene
  • IDs
    MGI:88459
    NCBI Gene: 12833
Location & Maps
more
  • Sequence Map
    Chr10:76708792-76726168 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      17377 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    COL6A1, collagen type VI alpha 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    COL6A1, collagen type VI alpha 1
    Orthology source: HomoloGene
  • Synonyms
    BTHLM1, OPLL, UCHMD1
  • Links
    NCBI Gene ID: 1291
    neXtProt AC: NX_P12109

  • Chr Location
    21q22.3; chr21:45981749-46005049 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Col6a1 mouse models; 2 with human COL6A1 associations

Human Disease Mouse Models
       Bethlem Myopathy 1; BTHLM1   OMIM: 158810 View 1 model
       Ullrich Congenital Muscular Dystrophy 1; UCMD1   OMIM: 254090
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    5 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    9 phenotypes from 1 allele in 1 genetic background
    42 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
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
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    12
  • Chemically induced (other)
    1
  • Targeted
    11
  • Genomic Mutations
    5 involving Col6a1
  • Incidental Mutations
Mice homozygous for this targeted mutation display a myopathic disorder that resembles human Bethlem myopathy. Loss of contractile strength in affected muscles is associated with an unexpected latent mitochondrial dysfunction in myofibers, as well as spontaneous apoptosis.
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 OTTMUSG00000020489 VEGA Gene Model | MGI Sequence Detail 17377 C57BL/6J ±  kb
transcript OTTMUST00000048591 VEGA | MGI Sequence Detail 4100 Not Applicable  
polypeptide OTTMUSP00000022317 VEGA | MGI Sequence Detail 1025 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    123 from dbSNP Build 142
  • RFLP
Protein
Information
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  • UniProt
    5 Sequences
  • Protein Ontology
    PR:000003353 collagen alpha-1(VI) chain
  • InterPro Domains
    IPR008160 Collagen triple helix repeat
    IPR002035 von Willebrand factor, type A
Molecular
Reagents
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  • All nucleic 255
    Genomic 18
    cDNA 232
    Primer pair 3
    Other 2

    Microarray probesets 4
Other
Accession IDs
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MGD-MRK-2073, MGD-MRK-2076, MGI:2143667
References
more
  • Summaries
    All 116
    Developmental Gene Expression 34
    Diseases 5
    Gene Ontology 8
    Phenotypes 42
  • Earliest
    J:32332 Chu ML, et al., Characterization of three constituent chains of collagen type VI by peptide sequences and cDNA clones. Eur J Biochem. 1987 Oct 15;168(2):309-17
  • Latest
    J:225610 Chen P, et al., Lack of Collagen VI Promotes Wound-Induced Hair Growth. J Invest Dermatol. 2015 Oct;135(10):2358-67

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
04/26/2016
MGI 6.03
The Jackson Laboratory