Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1291
Gene name Gene Name - the full gene name approved by the HGNC.
Collagen type VI alpha 1 chain
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
COL6A1
Synonyms (NCBI Gene) Gene synonyms aliases
BTHLM1, BTHLM1A, OPLL, UCHMD1, UCHMD1A
Chromosome Chromosome number
21
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
21q22.3
Summary Summary of gene provided in NCBI Entrez 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 structura
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs9637170 C>A,T Conflicting-interpretations-of-pathogenicity Coding sequence variant, synonymous variant
rs11702055 C>A,T Conflicting-interpretations-of-pathogenicity Coding sequence variant, synonymous variant
rs75180385 C>T Likely-benign, conflicting-interpretations-of-pathogenicity Coding sequence variant, synonymous variant
rs111451684 G>A,C Conflicting-interpretations-of-pathogenicity Coding sequence variant, synonymous variant
rs112104768 C>G,T Uncertain-significance, conflicting-interpretations-of-pathogenicity Missense variant, coding sequence variant, synonymous variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT018149 hsa-miR-335-5p Microarray 18185580
MIRT051548 hsa-let-7e-5p CLASH 23622248
MIRT043222 hsa-miR-324-5p CLASH 23622248
MIRT039896 hsa-miR-615-3p CLASH 23622248
MIRT037192 hsa-miR-877-3p CLASH 23622248
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000302 Process Response to reactive oxygen species IEA
GO:0000902 Process Cell morphogenesis IEA
GO:0001503 Process Ossification IEA
GO:0001649 Process Osteoblast differentiation HDA 16210410
GO:0001942 Process Hair follicle development IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
120220 2211 ENSG00000142156
Protein
UniProt ID P12109
Protein name Collagen alpha-1(VI) chain
Protein function Collagen VI acts as a cell-binding protein.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00092 VWA 37 227 von Willebrand factor type A domain Domain
PF01391 Collagen 253 313 Collagen triple helix repeat (20 copies) Repeat
PF01391 Collagen 293 368 Collagen triple helix repeat (20 copies) Repeat
PF01391 Collagen 347 419 Collagen triple helix repeat (20 copies) Repeat
PF01391 Collagen 449 517 Collagen triple helix repeat (20 copies) Repeat
PF01391 Collagen 500 564 Collagen triple helix repeat (20 copies) Repeat
PF00092 VWA 615 784 von Willebrand factor type A domain Domain
PF00092 VWA 829 1019 von Willebrand factor type A domain Domain
Sequence
MRAARALLPLLLQACWTAAQDEPETPRAVAFQDCPVDLFFVLDTSESVALRLKPYGALVD
KVKSFTKRFIDNLRDRYYRCDRNLVWNAGALHYSDEVEIIQGLTRMPGGRDALKSSVDAV
KYFGKGTYTDCAIKKGLEQLLVGGSHLKENKYLIVVTDGHPLEGYKEPCGGLEDAVNEAK
HLGVKVFSVAITPDHLEPRLSIIATDHTYRRNFTAADWGQSRDAEEA
ISQTIDTIVDMIK
NNVEQVCCSFECQPARGPPGLRGDPGFEGERGKPGLPGEKGEAGDPGRPGDLGPVGYQGM
KGEKGSRGEKGSR
GPKGYKGEKGKRGIDGVDGVKGEMGYPGLPGCKGSPGFDGIQGPPGP
KGDPGAFG
LKGEKGEPGADGEAGRPGSSGPSGDEGQPGEPGPPGEKGEAGDEGNPGPDG
A
PGERGGPGERGPRGTPGTRGPRGDPGEAGPQGDQGREGPVGVPGDPGEAGPIGPKGYRGD
EGPPGSEGARGAPGPAGPP
GDPGLMGERGEDGPAGNGTEGFPGFPGYPGNRGAPGINGTK
GYPGLKGDEGEAGDPGDDNNDIAP
RGVKGAKGYRGPEGPQGPPGHQGPPGPDECEILDII
MKMCSCCECKCGPIDLLFVLDSSESIGLQNFEIAKDFVVKVIDRLSRDELVKFEPGQSYA
GVVQYSHSQMQEHVSLRSPSIRNVQELKEAIKSLQWMAGGTFTGEALQYTRDQLLPPSPN
NRIALVITDGRSDTQRDTTPLNVLCSPGIQVVSVGIKDVFDFIPGSDQLNVISCQGLAPS
QGRP
GLSLVKENYAELLEDAFLKNVTAQICIDKKCPDYTCPITFSSPADITILLDGSASV
GSHNFDTTKRFAKRLAERFLTAGRTDPAHDVRVAVVQYSGTGQQRPERASLQFLQNYTAL
ASAVDAMDFINDATDVNDALGYVTRFYREASSGAAKKRLLLFSDGNSQGATPAAIEKAVQ
EAQRAGIEIFVVVVGRQVNEPHIRVLVTGKTAEYDVAYGESHLFRVPSYQALLRGVFHQ
T
VSRKVALG
Sequence length 1028
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  PI3K-Akt signaling pathway
Focal adhesion
ECM-receptor interaction
Cytoskeleton in muscle cells
Protein digestion and absorption
Human papillomavirus infection
  Collagen degradation
Collagen biosynthesis and modifying enzymes
Signaling by PDGF
Assembly of collagen fibrils and other multimeric structures
Integrin cell surface interactions
ECM proteoglycans
NCAM1 interactions
Collagen chain trimerization
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Ullrich Congenital Muscular Dystrophy ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1A, AUTOSOMAL DOMINANT rs121912939, rs121912938 N/A
Myopathy myopathy rs797045477 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Bethlem Myopathy Bethlem myopathy 1A N/A N/A GenCC
Keratoconus Keratoconus N/A N/A GWAS
Myopia Myopia N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Abnormalities Drug Induced Associate 33261612
Astrocytoma Associate 18551403
Atrioventricular Septal Defect Associate 23040494
Bethlem myopathy Associate 10419498, 11707460, 12840783, 15689448, 16258657, 19884007, 20882040, 22075033, 22226732, 23738969, 29774307, 30808312, 31273343, 33337382, 39523858
View all (4 more)
Biliary Atresia Associate 38041174
Breast Neoplasms Associate 30353998, 34541602
Bundle Branch Block Associate 33567613
Carcinogenesis Stimulate 25895032
Carcinoma Squamous Cell Associate 39928484
Cardiomyopathy Right Ventricular Dilated Associate 33567613