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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
  • Alliance
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
  • Genetic Map
    Chromosome 10, 39.71 cM, cytoband B5-C1
  • Mapping Data
    24 experiments
Homology
more
  • Human Ortholog
    COL6A1, collagen type VI alpha 1 chain
  • Vertebrate Orthologs
    10
  • Human Ortholog
    COL6A1, collagen type VI alpha 1 chain
    Orthology source: HomoloGene, HGNC
  • Synonyms
    BTHLM1, OPLL, UCHMD1
  • Links
    NCBI Gene ID: 1291
    neXtProt AC: NX_P12109
    UniProt: P12109

  • Chr Location
    21q22.3; chr21:45981749-46005049 (+)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with Col6a1 mouse models; 3 with human COL6A1 associations

Human Disease Mouse Models
      
IDs
View 1 model
      
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    4 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    9 phenotypes from 1 allele in 1 genetic background
    49 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.
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 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
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    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
    less
    • SNPs within 2kb
      123 from dbSNP Build 142
    • RFLP
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 258
      Genomic 18
      cDNA 234
      Primer pair 3
      Other 3

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-2073, MGD-MRK-2076, MGI:2143667
    References
    more
    • Summaries
      All 148
      Developmental Gene Expression 40
      Diseases 4
      Gene Ontology 8
      Phenotypes 49
    • Earliest
      J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
    • Latest
      J:262380 Watson-Scales S, et al., Analysis of motor dysfunction in Down Syndrome reveals motor neuron degeneration. PLoS Genet. 2018 May;14(5):e1007383

    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
    07/10/2018
    MGI 6.12
    The Jackson Laboratory