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Aliases for COL6A1 Gene

Aliases for COL6A1 Gene

  • Collagen Type VI Alpha 1 Chain 2 3 5
  • Collagen, Type VI, Alpha 1 2 3
  • Collagen VI, Alpha-1 Polypeptide 3
  • Alpha 1 (VI) Chain (61 AA) 3
  • Collagen Alpha-1(VI) Chain 3
  • BTHLM1 3
  • UCHMD1 3
  • OPLL 3

External Ids for COL6A1 Gene

Previous GeneCards Identifiers for COL6A1 Gene

  • GC21P043908
  • GC21P046259
  • GC21P046260
  • GC21P046261
  • GC21P046226
  • GC21P047401
  • GC21P032782

Summaries for COL6A1 Gene

Entrez Gene Summary for COL6A1 Gene

  • 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]

GeneCards Summary for COL6A1 Gene

COL6A1 (Collagen Type VI Alpha 1 Chain) is a Protein Coding gene. Diseases associated with COL6A1 include Ullrich Congenital Muscular Dystrophy 1 and Bethlem Myopathy 1. Among its related pathways are Collagen biosynthesis and modifying enzymes and RET signaling. GO annotations related to this gene include platelet-derived growth factor binding. An important paralog of this gene is COL6A2.

UniProtKB/Swiss-Prot for COL6A1 Gene

  • Collagen VI acts as a cell-binding protein.

Gene Wiki entry for COL6A1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for COL6A1 Gene

Genomics for COL6A1 Gene

Regulatory Elements for COL6A1 Gene

Enhancers for COL6A1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH21F045970 1.4 FANTOM5 ENCODE 24.3 -8.8 -8787 5.6 PKNOX1 ARID4B ZNF48 ZNF2 GLIS2 ZNF143 KLF7 FOS SP3 REST COL6A1 ENSG00000228235 PCBP3 COL6A2 LSS SPATC1L LOC101928796 PCBP3-OT1
GH21F045976 1.3 Ensembl ENCODE 17.1 +0.4 442 11.2 ATF1 PKNOX1 SIN3A YBX1 GLI4 ZNF48 ZNF2 GLIS2 ZNF207 KLF7 ENSG00000228137 MCM3AP MCM3AP-AS1 COL6A1 ENSG00000228235 ENSG00000227438 S100B DSTNP1 LOC105372842 ENSG00000215447
GH21F046048 1.5 FANTOM5 Ensembl ENCODE 13.6 +76.8 76793 19.8 CBX3 INSM2 KLF17 RAD21 ETS1 CBX5 ZNF548 FOS EGR2 ZNF202 ENSG00000228137 MCM3AP MCM3AP-AS1 DSTNP1 ENSG00000215447 LINC00205 COL6A1 ENSG00000227438 LOC100129027 COL6A2
GH21F045949 1.3 FANTOM5 Ensembl ENCODE 10 -31.1 -31129 2.6 ZNF263 CTCF KLF1 MAZ SP3 SP2 KLF17 ZIC2 ZFHX2 GLIS1 PCBP3 COL6A1 MCM3AP-AS1 LOC101928796 PCBP3-OT1
GH21F045952 0.7 Ensembl ENCODE 18.3 -27.9 -27870 1.9 CTCF PKNOX1 ZNF512 COL6A1 PCBP3 LSS LOC101928796 PCBP3-OT1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around COL6A1 on UCSC Golden Path with GeneCards custom track

Promoters for COL6A1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000614990 763 3001 ATF1 SIN3A GLI4 ZNF48 ZNF2 GLIS2 KLF7 FOS SP3 MXD4

Genomic Location for COL6A1 Gene

45,981,737 bp from pter
46,005,050 bp from pter
23,314 bases
Plus strand

Genomic View for COL6A1 Gene

Genes around COL6A1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
COL6A1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for COL6A1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for COL6A1 Gene

Proteins for COL6A1 Gene

  • Protein details for COL6A1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Collagen alpha-1(VI) chain
    Protein Accession:
    Secondary Accessions:
    • O00117
    • O00118
    • Q14040
    • Q14041
    • Q16258
    • Q7Z645
    • Q9BSA8

    Protein attributes for COL6A1 Gene

    1028 amino acids
    Molecular mass:
    108529 Da
    Quaternary structure:
    • Trimers composed of three different chains: alpha-1(VI), alpha-2(VI), and alpha-3(VI) or alpha-5(VI) or alpha-6(VI).

neXtProt entry for COL6A1 Gene

Post-translational modifications for COL6A1 Gene

  • Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains.
  • Glycosylation at Asn 212, Asn 516, Asn 537, Asn 804, and Asn 896
  • Modification sites at PhosphoSitePlus

Other Protein References for COL6A1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for COL6A1 Gene

Domains & Families for COL6A1 Gene

Gene Families for COL6A1 Gene

Graphical View of Domain Structure for InterPro Entry



  • Contains 3 VWFA domains.
  • Belongs to the type VI collagen family.
  • Contains 3 VWFA domains.
  • Belongs to the type VI collagen family.
genes like me logo Genes that share domains with COL6A1: view

Function for COL6A1 Gene

Molecular function for COL6A1 Gene

GENATLAS Biochemistry:
collagen type VI,alpha 1 (150kDa),microfibrillar
UniProtKB/Swiss-Prot Function:
Collagen VI acts as a cell-binding protein.

Gene Ontology (GO) - Molecular Function for COL6A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0048407 platelet-derived growth factor binding IDA 8900172
genes like me logo Genes that share ontologies with COL6A1: view
genes like me logo Genes that share phenotypes with COL6A1: view

Human Phenotype Ontology for COL6A1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for COL6A1 Gene

MGI Knock Outs for COL6A1:

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for COL6A1 Gene

Localization for COL6A1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for COL6A1 Gene

Secreted, extracellular space, extracellular matrix.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for COL6A1 gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 5
lysosome 5
cytosol 3
plasma membrane 2
mitochondrion 2
nucleus 1

Gene Ontology (GO) - Cellular Components for COL6A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA,TAS --
GO:0005578 proteinaceous extracellular matrix IEA --
GO:0005581 collagen trimer IEA --
GO:0005589 collagen type VI trimer NAS 2551668
GO:0005615 extracellular space IEA --
genes like me logo Genes that share ontologies with COL6A1: view

Pathways & Interactions for COL6A1 Gene

genes like me logo Genes that share pathways with COL6A1: view

Gene Ontology (GO) - Biological Process for COL6A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001649 osteoblast differentiation IDA 16210410
GO:0007155 cell adhesion IEA --
GO:0030198 extracellular matrix organization TAS --
GO:0030574 collagen catabolic process TAS --
GO:0035987 endodermal cell differentiation IEP 23154389
genes like me logo Genes that share ontologies with COL6A1: view

No data available for SIGNOR curated interactions for COL6A1 Gene

Drugs & Compounds for COL6A1 Gene

(1) Drugs for COL6A1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with COL6A1: view

Transcripts for COL6A1 Gene

Unigene Clusters for COL6A1 Gene

Collagen, type VI, alpha 1:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for COL6A1 Gene

No ASD Table

Relevant External Links for COL6A1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for COL6A1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for COL6A1 Gene

Protein differential expression in normal tissues from HIPED for COL6A1 Gene

This gene is overexpressed in Adipocyte (16.2), Urinary Bladder (11.7), Bone marrow mesenchymal stem cell (8.0), and Colon muscle (7.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for COL6A1 Gene

Protein tissue co-expression partners for COL6A1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of COL6A1 Gene:


SOURCE GeneReport for Unigene cluster for COL6A1 Gene:

genes like me logo Genes that share expression patterns with COL6A1: view

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for COL6A1 Gene

Orthologs for COL6A1 Gene

This gene was present in the common ancestor of animals.

Orthologs for COL6A1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia COL6A1 34 35
  • 99.12 (n)
(Canis familiaris)
Mammalia COL6A1 34 35
  • 88.37 (n)
(Bos Taurus)
Mammalia COL6A1 34 35
  • 87.44 (n)
(Rattus norvegicus)
Mammalia Col6a1 34
  • 83.61 (n)
(Mus musculus)
Mammalia Col6a1 34 16 35
  • 83.15 (n)
(Ornithorhynchus anatinus)
Mammalia COL6A1 35
  • 74 (a)
(Monodelphis domestica)
Mammalia COL6A1 35
  • 69 (a)
(Gallus gallus)
Aves COL6A1 34 35
  • 70.63 (n)
(Anolis carolinensis)
Reptilia COL6A1 35
  • 69 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia col6a1 34
  • 63.12 (n)
African clawed frog
(Xenopus laevis)
Amphibia col6a1-prov 34
(Danio rerio)
Actinopterygii col6a1 34 35
  • 59.8 (n)
(Caenorhabditis elegans)
Secernentea mec-5 35
  • 39 (a)
Species where no ortholog for COL6A1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for COL6A1 Gene

Gene Tree for COL6A1 (if available)
Gene Tree for COL6A1 (if available)

Paralogs for COL6A1 Gene

Paralogs for COL6A1 Gene

(7) SIMAP similar genes for COL6A1 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with COL6A1: view

Variants for COL6A1 Gene

Sequence variations from dbSNP and Humsavar for COL6A1 Gene

SNP ID Clin Chr 21 pos Sequence Context AA Info Type
rs11553519 Bethlem myopathy 1 (BTHLM1) [MIM:158810], other 45,984,388(+) AAGCA(A/G)CGTGG reference, missense
rs121912935 Bethlem myopathy 1 (BTHLM1) [MIM:158810], Pathogenic 45,990,792(+) CCCAG(A/G)CCTGC reference, missense
rs121912936 Bethlem myopathy 1 (BTHLM1) [MIM:158810], Pathogenic 45,984,403(+) GGTCA(A/G)GTACT reference, missense
rs121912938 Ullrich congenital muscular dystrophy 1 (UCMD1) [MIM:254090], Pathogenic 45,989,129(+) AAGCC(A/G)GAGAT reference, missense
rs121912939 Bethlem myopathy 1 (BTHLM1) [MIM:158810], Ullrich congenital muscular dystrophy 1 (UCMD1) [MIM:254090], Pathogenic 45,989,617(+) GACCC(A/C/G)GGGAC reference, missense

Structural Variations from Database of Genomic Variants (DGV) for COL6A1 Gene

Variant ID Type Subtype PubMed ID
nsv953657 CNV deletion 24416366
nsv587935 CNV gain 21841781
nsv587934 CNV loss 21841781
nsv587933 CNV loss 21841781
nsv587930 CNV loss 21841781
nsv513579 CNV insertion 21212237
nsv509804 CNV insertion 20534489
nsv470910 CNV gain 18288195
nsv1129227 CNV insertion 24896259
nsv1126010 CNV deletion 24896259
nsv1109448 CNV deletion 24896259
esv3557859 CNV deletion 23714750
esv2723853 CNV deletion 23290073
esv2723852 CNV deletion 23290073
esv2723851 CNV deletion 23290073
esv2723849 CNV deletion 23290073
esv1561412 CNV insertion 17803354
esv1409667 CNV insertion 17803354
esv1396032 CNV insertion 17803354
esv1025241 CNV insertion 17803354
dgv7920n54 CNV loss 21841781
dgv7919n54 CNV loss 21841781
dgv254n21 CNV loss 19592680
dgv2416n106 CNV deletion 24896259

Variation tolerance for COL6A1 Gene

Residual Variation Intolerance Score: 94.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 13.20; 95.21% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for COL6A1 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for COL6A1 Gene

Disorders for COL6A1 Gene

MalaCards: The human disease database

(25) MalaCards diseases for COL6A1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
ullrich congenital muscular dystrophy 1
  • ullrich congenital muscular dystrophy
bethlem myopathy 1
  • bethlem myopathy
collagen type vi-related disorders
diffuse idiopathic skeletal hyperostosis
  • ankylosing vertebral hyperostosis
  • muscular diseases
- elite association - COSMIC cancer census association via MalaCards


  • Bethlem myopathy 1 (BTHLM1) [MIM:158810]: A benign proximal myopathy characterized by early childhood onset and joint contractures most frequently affecting the elbows and ankles. {ECO:0000269 PubMed:11865138, ECO:0000269 PubMed:15689448, ECO:0000269 PubMed:15955946, ECO:0000269 PubMed:8782832}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Ullrich congenital muscular dystrophy 1 (UCMD1) [MIM:254090]: A congenital myopathy characterized by muscle weakness and multiple joint contractures, generally noted at birth or early infancy. The clinical course is more severe than in Bethlem myopathy. {ECO:0000269 PubMed:15689448, ECO:0000269 PubMed:16130093}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for COL6A1

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with COL6A1: view

No data available for Genatlas for COL6A1 Gene

Publications for COL6A1 Gene

  1. Single nucleotide polymorphism of COL6A1 in patients with ankylosing spondylitis. (PMID: 18634150) Kim T.H. … Jun J.B. (J. Rheumatol. 2008) 3 22 46 64
  2. COL6A1 polymorphisms associated with ossification of the ligamentum flavum and ossification of the posterior longitudinal ligament. (PMID: 18246005) Kong Q. … Chen Z. (Spine 2007) 3 22 46 64
  3. COL6A1, the candidate gene for ossification of the posterior longitudinal ligament, is associated with diffuse idiopathic skeletal hyperostosis in Japanese. (PMID: 16227896) Tsukahara S. … Inoue I. (Spine 2005) 3 22 46 64
  4. Dominant and recessive COL6A1 mutations in Ullrich scleroatonic muscular dystrophy. (PMID: 16130093) Giusti B. … Pepe G. (Ann. Neurol. 2005) 3 4 22 64
  5. New molecular mechanism for Ullrich congenital muscular dystrophy: a heterozygous in-frame deletion in the COL6A1 gene causes a severe phenotype. (PMID: 12840783) Pan T.C. … Chu M.L. (Am. J. Hum. Genet. 2003) 3 22 46 64

Products for COL6A1 Gene

Sources for COL6A1 Gene

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