Format

Send to:

Choose Destination

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

Gene ID: 1291, updated on 28-Jun-2020

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
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
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

Genomic context

See COL6A1 in Genome Data Viewer
Location:
21q22.3
Exon count:
35
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 21 NC_000021.9 (45981770..46005048)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (47401663..47424963)

Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101928796 Neighboring gene uncharacterized LOC105372841 Neighboring gene proline-rich protein 36-like 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

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
collagen binding IPI
Inferred from Physical Interaction
more info
PubMed 
extracellular matrix structural constituent conferring tensile strength ISS
Inferred from Sequence or Structural Similarity
more info
 
extracellular matrix structural constituent conferring tensile strength RCA
inferred from Reviewed Computational Analysis
more info
PubMed 
platelet-derived growth factor binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
cell adhesion IEA
Inferred from Electronic Annotation
more info
 
cellular response to amino acid stimulus IEA
Inferred from Electronic Annotation
more info
 
endodermal cell differentiation IEP
Inferred from Expression Pattern
more info
PubMed 
extracellular matrix organization TAS
Traceable Author Statement
more info
 
osteoblast differentiation HDA PubMed 

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)

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
    P12109
    Related
    ENSP00000355180.3, ENST00000361866.8
    Conserved Domains (2) summary
    pfam01391
    Location:257315
    Collagen; Collagen triple helix repeat (20 copies)
    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 ...

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000021.9 Reference GRCh38.p13 Primary Assembly

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