About   Help   FAQ
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
  • Transcription Start Sites
    12 TSS
Location &
Maps
more
  • Sequence Map
    Chr10:76708792-76726044 bp, - strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 10, 39.71 cM, cytoband B5-C1
  • Mapping Data
    24 experiments
Strain
Comparison
more
  • SNPs within 2kb
    123 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_88459
protein coding gene Chr10:76708792-76726168 (-)
129S1/SvImJ MGP_129S1SvImJ_G0017389
protein coding gene Chr10:76968470-76987940 (-)
A/J MGP_AJ_G0017366
protein coding gene Chr10:74305551-74323411 (-)
AKR/J MGP_AKRJ_G0017327
protein coding gene Chr10:76306144-76323520 (-)
BALB/cJ MGP_BALBcJ_G0017326
protein coding gene Chr10:74509939-74527321 (-)
C3H/HeJ MGP_C3HHeJ_G0017150
protein coding gene Chr10:76389467-76406837 (-)
C57BL/6NJ MGP_C57BL6NJ_G0017784
protein coding gene Chr10:79676420-79695020 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0015474
protein coding gene Chr10:70750606-70767835 (-)
CAST/EiJ MGP_CASTEiJ_G0016720
protein coding gene Chr10:76712847-76734363 (-)
CBA/J MGP_CBAJ_G0017122
protein coding gene Chr10:82801674-82821910 (-)
DBA/2J MGP_DBA2J_G0017227
protein coding gene Chr10:73605602-73623401 (-)
FVB/NJ MGP_FVBNJ_G0017219
protein coding gene Chr10:72766352-72783727 (-)
LP/J MGP_LPJ_G0017300
protein coding gene Chr10:77449773-77467146 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0017248
protein coding gene Chr10:84847694-84866281 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0017823
protein coding gene Chr10:76371814-76389184 (-)
PWK/PhJ MGP_PWKPhJ_G0016504
protein coding gene Chr10:73457660-73475268 (-)
SPRET/EiJ MGP_SPRETEiJ_G0016287
protein coding gene Chr10:75605535-75622962 (-)
WSB/EiJ MGP_WSBEiJ_G0016783
protein coding gene Chr10:76349659-76367056 (-)



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; 2 with human COL6A1 associations

Human Disease Mouse Models
      
IDs
View 1 model
      
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
less
  • Phenotype Summary
    9 phenotypes from 1 allele in 1 genetic background
    52 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
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
less
  • All GO Annotations
  • GO References
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 death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
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
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 12833 NCBI Gene Model | MGI Sequence Detail 17253 C57BL/6J ±  kb
    transcript NM_009933 RefSeq | MGI Sequence Detail 3990 C57BL/6  
    polypeptide Q04857 UniProt | EBI | MGI Sequence Detail 1025 Not Applicable  
    For the selected sequence
    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 154
      Developmental Gene Expression 41
      Diseases 4
      Gene Ontology 12
      Phenotypes 52
    • 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
    Funding Information
    Warranty Disclaimer & Copyright Notice
    Send questions and comments to User Support.
    last database update
    11/06/2018
    MGI 6.13
    The Jackson Laboratory