COL6A1 (collagen type VI alpha 1 chain)

2003-08-01  

Identity

HGNC
LOCATION
21q22.3
LOCUSID
ALIAS
BTHLM1,OPLL,UCHMD1
FUSION GENES

Other Information

Locus ID:

NCBI: 1291
MIM: 120220
HGNC: 2211
Ensembl: ENSG00000142156

Variants:

dbSNP: 1291
ClinVar: 1291
TCGA: ENSG00000142156
COSMIC: COL6A1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000142156ENST00000361866P12109
ENSG00000142156ENST00000361866A0A384P5H7
ENSG00000142156ENST00000612273A0A087X0S5

Expression (GTEx)

0
500
1000
1500
2000
2500

Pathways

PathwaySourceExternal ID
Focal adhesionKEGGko04510
ECM-receptor interactionKEGGko04512
Focal adhesionKEGGhsa04510
ECM-receptor interactionKEGGhsa04512
Protein digestion and absorptionKEGGko04974
Protein digestion and absorptionKEGGhsa04974
PI3K-Akt signaling pathwayKEGGhsa04151
PI3K-Akt signaling pathwayKEGGko04151
Signal TransductionREACTOMER-HSA-162582
Signaling by PDGFREACTOMER-HSA-186797
Extracellular matrix organizationREACTOMER-HSA-1474244
Collagen formationREACTOMER-HSA-1474290
Collagen biosynthesis and modifying enzymesREACTOMER-HSA-1650814
Assembly of collagen fibrils and other multimeric structuresREACTOMER-HSA-2022090
Developmental BiologyREACTOMER-HSA-1266738
Axon guidanceREACTOMER-HSA-422475
NCAM signaling for neurite out-growthREACTOMER-HSA-375165
NCAM1 interactionsREACTOMER-HSA-419037
Collagen chain trimerizationREACTOMER-HSA-8948216

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
210375862010Autophagy is defective in collagen VI muscular dystrophies, and its reactivation rescues myofiber degeneration.199
192047262009Transcriptomic and genetic studies identify IL-33 as a candidate gene for Alzheimer's disease.63
155635062005Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy.47
128407832003New molecular mechanism for Ullrich congenital muscular dystrophy: a heterozygous in-frame deletion in the COL6A1 gene causes a severe phenotype.40
129587052003Genomewide linkage and linkage disequilibrium analyses identify COL6A1, on chromosome 21, as the locus for ossification of the posterior longitudinal ligament of the spine.37
209767702010Early onset collagen VI myopathies: Genetic and clinical correlations.31
183660902008Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance.30
164344042006Beta ig-h3 interacts directly with biglycan and decorin, promotes collagen VI aggregation, and participates in ternary complexing with these macromolecules.29
182460052007COL6A1 polymorphisms associated with ossification of the ligamentum flavum and ossification of the posterior longitudinal ligament.28
182460052007COL6A1 polymorphisms associated with ossification of the ligamentum flavum and ossification of the posterior longitudinal ligament.28

Citation

Dessen P

COL6A1 (collagen type VI alpha 1 chain)

Atlas Genet Cytogenet Oncol Haematol. 2003-08-01

Online version: http://atlasgeneticsoncology.org/gene/40128/col6a1-(collagen-type-vi-alpha-1-chain)