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    COL6A1 collagen type VI alpha 1 chain [ Homo sapiens (human) ]

    Gene ID: 1291, updated on 5-Mar-2024

    Summary

    Official Symbol
    COL6A1provided by HGNC
    Official Full Name
    collagen type VI alpha 1 chainprovided by HGNC
    Primary source
    HGNC:HGNC:2211
    See related
    Ensembl:ENSG00000142156 MIM:120220; AllianceGenome:HGNC:2211
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    OPLL; BTHLM1; UCHMD1; BTHLM1A; UCHMD1A
    Summary
    The collagens are a superfamily of proteins that play a role in maintaining the integrity of various tissues. Collagens are extracellular matrix proteins and have a triple-helical domain as their common structural element. Collagen VI is a major structural component of microfibrils. The basic structural unit of collagen VI is a heterotrimer of the alpha1(VI), alpha2(VI), and alpha3(VI) chains. The alpha2(VI) and alpha3(VI) chains are encoded by the COL6A2 and COL6A3 genes, respectively. The protein encoded by this gene is the alpha 1 subunit of type VI collagen (alpha1(VI) chain). Mutations in the genes that code for the collagen VI subunits result in the autosomal dominant disorder, Bethlem myopathy. [provided by RefSeq, Jul 2008]
    Expression
    Broad expression in placenta (RPKM 211.0), endometrium (RPKM 191.1) and 23 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See COL6A1 in Genome Data Viewer
    Location:
    21q22.3
    Exon count:
    35
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (45981770..46005048)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 21 NC_060945.1 (44356236..44380470)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (47401684..47424962)

    Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101928796 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13412 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18596 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:47393951-47394751 Neighboring gene uncharacterized LOC105372841 Neighboring gene H3K27ac hESC enhancer GRCh37_chr21:47401442-47402304 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:47402305-47403165 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:47414705-47415520 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:47415521-47416336 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:47442841-47443340 Neighboring gene proline-rich protein 36-like Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:47458799-47459441 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:47469227-47469937 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:47469938-47470648 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:47475451-47476180 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18597 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:47485731-47486346 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:47486347-47486960 Neighboring gene proteasome subunit alpha 6 pseudogene 3

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables collagen binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables extracellular matrix structural constituent conferring tensile strength ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables extracellular matrix structural constituent conferring tensile strength RCA
    inferred from Reviewed Computational Analysis
    more info
    PubMed 
    enables platelet-derived growth factor binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in 2-oxoglutarate metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in adipose tissue development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in apoptotic nuclear changes IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in autophagy IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in basement membrane organization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in bone development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in bone mineralization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in canonical Wnt signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cartilage development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in caveola assembly IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cell adhesion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cell morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to amino acid stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in circadian rhythm IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in collagen fibril organization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in collagen metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in endodermal cell differentiation IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in energy reserve metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in extracellular matrix assembly IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in fat cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in gene expression IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in glycolytic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in hair follicle development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in heart development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in homeostasis of number of cells IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in inflammatory response IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in insulin receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in insulin-like growth factor receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in limb joint morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in lung alveolus development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in lung epithelial cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in lung morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in mitochondrial depolarization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in mitochondrial transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in mitochondrion organization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in multicellular organismal locomotion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in muscle cell apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in muscle system process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in myelination in peripheral nervous system IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in neuron apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in osteoblast differentiation HDA PubMed 
    involved_in phosphatidylinositol 3-kinase/protein kinase B signal transduction IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in protein tetramerization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in reactive oxygen species metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in reduction of food intake in response to dietary excess IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of cell size IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of collagen fibril organization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in respiratory system process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to UV IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to bleomycin IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to decreased oxygen levels IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to lipopolysaccharide IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to mechanical stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to muscle activity IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to pain IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to polyamine macromolecule IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to reactive oxygen species IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to toxic substance IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to wounding IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to xenobiotic stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in sensory perception of mechanical stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in single fertilization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in skeletal muscle fiber development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in skeletal muscle fiber differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in skeletal muscle tissue growth IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in skeletal muscle tissue regeneration IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in tissue remodeling IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in transmission of nerve impulse IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in tricarboxylic acid cycle IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in uterus development IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in basement membrane IEA
    Inferred from Electronic Annotation
    more info
     
    part_of collagen type VI trimer NAS
    Non-traceable Author Statement
    more info
    PubMed 
    colocalizes_with collagen-containing extracellular matrix HDA PubMed 
    located_in collagen-containing extracellular matrix HDA PubMed 
    is_active_in collagen-containing extracellular matrix IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    colocalizes_with collagen-containing extracellular matrix ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    located_in endoplasmic reticulum lumen TAS
    Traceable Author Statement
    more info
     
    located_in extracellular exosome HDA PubMed 
    located_in extracellular region HDA PubMed 
    located_in extracellular region IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in extracellular region TAS
    Traceable Author Statement
    more info
     
    located_in intracellular vesicle IEA
    Inferred from Electronic Annotation
    more info
     
    located_in lysosomal membrane HDA PubMed 
    located_in membrane HDA PubMed 
    located_in mitochondrion IEA
    Inferred from Electronic Annotation
    more info
     
    located_in myofibril IEA
    Inferred from Electronic Annotation
    more info
     
    part_of protein-containing complex IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    located_in sarcolemma IEA
    Inferred from Electronic Annotation
    more info
     
    located_in sarcoplasmic reticulum IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    collagen alpha-1(VI) chain
    Names
    alpha 1 (VI) chain (61 AA)
    collagen VI, alpha-1 polypeptide
    collagen, type VI, alpha 1
    epididymis secretory sperm binding protein

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_008674.1 RefSeqGene

      Range
      5001..28301
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_475

    mRNA and Protein(s)

    1. NM_001848.3NP_001839.2  collagen alpha-1(VI) chain precursor

      See identical proteins and their annotated locations for NP_001839.2

      Status: REVIEWED

      Source sequence(s)
      AU100220, BC052575, BI769554, BM686857, BM707144, CN369002, CN369026, CN369041
      Consensus CDS
      CCDS13727.1
      UniProtKB/Swiss-Prot
      O00117, O00118, P12109, Q14040, Q14041, Q16258, Q7Z645, Q9BSA8
      UniProtKB/TrEMBL
      A0A384P5H7
      Related
      ENSP00000355180.3, ENST00000361866.8
      Conserved Domains (3) summary
      PHA03169
      Location:368520
      PHA03169; hypothetical protein; Provisional
      cd01480
      Location:34227
      vWA_collagen_alpha_1-VI-type; VWA_collagen alpha(VI) type: The extracellular matrix represents a complex alloy of variable members of diverse protein families defining structural integrity and various physiological functions. The most abundant family is the collagens with more than ...
      pfam01391
      Location:256309
      Collagen; Collagen triple helix repeat (20 copies)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000021.9 Reference GRCh38.p14 Primary Assembly

      Range
      45981770..46005048
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060945.1 Alternate T2T-CHM13v2.0

      Range
      44356236..44380470
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)