COL6A1 | ENSG00000142156 | NCBI 1291

Details for: COL6A1

Gene ID: 1291

Symbol: COL6A1

Ensembl ID: ENSG00000142156

Description: collagen type VI alpha 1 chain

Associated with

Assembly of collagen fibrils and other multimeric structures
(R-HSA-2022090)
Axon guidance
(R-HSA-422475)
Collagen biosynthesis and modifying enzymes
(R-HSA-1650814)
Collagen chain trimerization
(R-HSA-8948216)
Collagen degradation
(R-HSA-1442490)
Collagen formation
(R-HSA-1474290)
Degradation of the extracellular matrix
(R-HSA-1474228)
Developmental biology
(R-HSA-1266738)
Ecm proteoglycans
(R-HSA-3000178)
Extracellular matrix organization
(R-HSA-1474244)
Integrin cell surface interactions
(R-HSA-216083)
Ncam1 interactions
(R-HSA-419037)
Ncam signaling for neurite out-growth
(R-HSA-375165)
Nervous system development
(R-HSA-9675108)
Signaling by pdgf
(R-HSA-186797)
Signaling by receptor tyrosine kinases
(R-HSA-9006934)
Signal transduction
(R-HSA-162582)
2-oxoglutarate metabolic process
(GO:0006103)
Adipose tissue development
(GO:0060612)
Apoptotic nuclear changes
(GO:0030262)
Autophagy
(GO:0006914)
Basement membrane
(GO:0005604)
Basement membrane organization
(GO:0071711)
Bone development
(GO:0060348)
Bone mineralization
(GO:0030282)
Canonical wnt signaling pathway
(GO:0060070)
Cartilage development
(GO:0051216)
Caveola assembly
(GO:0070836)
Cell adhesion
(GO:0007155)
Cell morphogenesis
(GO:0000902)
Cellular response to amino acid stimulus
(GO:0071230)
Circadian rhythm
(GO:0007623)
Collagen binding
(GO:0005518)
Collagen fibril organization
(GO:0030199)
Collagen metabolic process
(GO:0032963)
Collagen type vi trimer
(GO:0005589)
Endodermal cell differentiation
(GO:0035987)
Endoplasmic reticulum lumen
(GO:0005788)
Energy reserve metabolic process
(GO:0006112)
Extracellular matrix assembly
(GO:0085029)
Extracellular matrix structural constituent conferring tensile strength
(GO:0030020)
Extracellular region
(GO:0005576)
Fat cell proliferation
(GO:0070341)
Gene expression
(GO:0010467)
Glycolytic process
(GO:0006096)
Hair follicle development
(GO:0001942)
Heart development
(GO:0007507)
Homeostasis of number of cells
(GO:0048872)
Inflammatory response
(GO:0006954)
Insulin-like growth factor receptor signaling pathway
(GO:0048009)
Insulin receptor signaling pathway
(GO:0008286)
Limb joint morphogenesis
(GO:0036022)
Lung alveolus development
(GO:0048286)
Lung epithelial cell differentiation
(GO:0060487)
Lung morphogenesis
(GO:0060425)
Lysosomal membrane
(GO:0005765)
Membrane
(GO:0016020)
Mitochondrial depolarization
(GO:0051882)
Mitochondrial transmembrane transport
(GO:1990542)
Mitochondrion
(GO:0005739)
Mitochondrion organization
(GO:0007005)
Multicellular organismal locomotion
(GO:0071965)
Muscle cell apoptotic process
(GO:0010657)
Muscle system process
(GO:0003012)
Myelination in peripheral nervous system
(GO:0022011)
Neuron apoptotic process
(GO:0051402)
Osteoblast differentiation
(GO:0001649)
Phosphatidylinositol 3-kinase/protein kinase b signal transduction
(GO:0043491)
Platelet-derived growth factor binding
(GO:0048407)
Protein tetramerization
(GO:0051262)
Reactive oxygen species metabolic process
(GO:0072593)
Reduction of food intake in response to dietary excess
(GO:0002023)
Regulation of cell size
(GO:0008361)
Regulation of collagen fibril organization
(GO:1904026)
Respiratory system process
(GO:0003016)
Response to bleomycin
(GO:1904975)
Response to decreased oxygen levels
(GO:0036293)
Response to lipopolysaccharide
(GO:0032496)
Response to mechanical stimulus
(GO:0009612)
Response to muscle activity
(GO:0014850)
Response to pain
(GO:0048265)
Response to polyamine macromolecule
(GO:1904583)
Response to reactive oxygen species
(GO:0000302)
Response to toxic substance
(GO:0009636)
Response to uv
(GO:0009411)
Response to wounding
(GO:0009611)
Response to xenobiotic stimulus
(GO:0009410)
Sensory perception of mechanical stimulus
(GO:0050954)
Single fertilization
(GO:0007338)
Skeletal muscle fiber development
(GO:0048741)
Skeletal muscle fiber differentiation
(GO:0098528)
Skeletal muscle tissue growth
(GO:0048630)
Skeletal muscle tissue regeneration
(GO:0043403)
Tissue remodeling
(GO:0048771)
Transmission of nerve impulse
(GO:0019226)
Tricarboxylic acid cycle
(GO:0006099)
Uterus development
(GO:0060065)

Other Information

Proteins

Collagen alpha-1(VI) chain

Genular Protein ID: 3837739011

Symbol: CO6A1_HUMAN

Name: Collagen alpha-1(VI) chain

UniProtKB Accession Codes:

P12109 O00117 O00118 Q14040 Q14041 Q16258 Q7Z645 Q9BSA8

Database IDs:

Citations:

PubMed ID: 2551668

Title: Sequence analysis of alpha 1(VI) and alpha 2(VI) chains of human type VI collagen reveals internal triplication of globular domains similar to the A domains of von Willebrand factor and two alpha 2(VI) chain variants that differ in the carboxy terminus.

PubMed ID: 2551668

DOI: 10.1002/j.1460-2075.1989.tb03598.x

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 8168508

Title: Recombinant expression and structural and binding properties of alpha 1(VI) and alpha 2(VI) chains of human collagen type VI.

PubMed ID: 8168508

DOI: 10.1111/j.1432-1033.1994.tb18727.x

PubMed ID: 9107679

Title: Human COL6A1: genomic characterization of the globular domains, structural and evolutionary comparison with COL6A2.

PubMed ID: 9107679

DOI: 10.1007/s003359900436

PubMed ID: 6852033

Title: Further characterization of the three polypeptide chains of bovine and human short-chain collagen (intima collagen).

PubMed ID: 6852033

DOI: 10.1111/j.1432-1033.1983.tb07427.x

PubMed ID: 3198591

Title: Amino acid sequence of the triple-helical domain of human collagen type VI.

PubMed ID: 3198591

DOI: 10.1016/s0021-9258(18)37327-7

PubMed ID: 1765372

Title: The exon organization of the triple-helical coding regions of the human alpha 1(VI) and alpha 2(VI) collagen genes is highly similar.

PubMed ID: 1765372

DOI: 10.1016/0888-7543(91)90111-q

PubMed ID: 3665927

Title: Characterization of three constituent chains of collagen type VI by peptide sequences and cDNA clones.

PubMed ID: 3665927

DOI: 10.1111/j.1432-1033.1987.tb13422.x

PubMed ID: 3348212

Title: Cloning and chromosomal localization of human genes encoding the three chains of type VI collagen.

PubMed ID: 3348212

PubMed ID: 19159218

Title: Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.

PubMed ID: 19159218

DOI: 10.1021/pr8008012

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 22905912

Title: Resveratrol-induced changes of the human adipocyte secretion profile.

PubMed ID: 22905912

DOI: 10.1021/pr300539b

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 8782832

Title: Type VI collagen mutations in Bethlem myopathy, an autosomal dominant myopathy with contractures.

PubMed ID: 8782832

DOI: 10.1038/ng0996-113

PubMed ID: 11865138

Title: Novel mutations in collagen VI genes: expansion of the Bethlem myopathy phenotype.

PubMed ID: 11865138

DOI: 10.1212/wnl.58.4.593

PubMed ID: 16130093

Title: Dominant and recessive COL6A1 mutations in Ullrich scleroatonic muscular dystrophy.

PubMed ID: 16130093

DOI: 10.1002/ana.20586

PubMed ID: 15689448

Title: Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy.

PubMed ID: 15689448

DOI: 10.1136/jmg.2004.023754

PubMed ID: 15955946

Title: Detection of common and private mutations in the COL6A1 gene of patients with Bethlem myopathy.

PubMed ID: 15955946

DOI: 10.1212/01.wnl.0000163990.00057.66

PubMed ID: 17785674

Title: Reduced cell anchorage may cause sarcolemma-specific collagen VI deficiency in Ullrich disease.

PubMed ID: 17785674

DOI: 10.1212/01.wnl.0000271386.89878.22

PubMed ID: 30345904

Title: The impact of PYROXD1 deficiency on cellular respiration and correlations with genetic analyses of limb-girdle muscular dystrophy in Saudi Arabia and Sudan.

PubMed ID: 30345904

DOI: 10.1152/physiolgenomics.00036.2018

Sequence Information:

Length: 1028
Mass: 108529
Checksum: 04AFF538002A01CD
Sequence:

MRAARALLPL LLQACWTAAQ DEPETPRAVA FQDCPVDLFF VLDTSESVAL RLKPYGALVD 
KVKSFTKRFI DNLRDRYYRC DRNLVWNAGA LHYSDEVEII QGLTRMPGGR DALKSSVDAV 
KYFGKGTYTD CAIKKGLEQL LVGGSHLKEN KYLIVVTDGH PLEGYKEPCG GLEDAVNEAK 
HLGVKVFSVA ITPDHLEPRL SIIATDHTYR RNFTAADWGQ SRDAEEAISQ TIDTIVDMIK 
NNVEQVCCSF ECQPARGPPG LRGDPGFEGE RGKPGLPGEK GEAGDPGRPG DLGPVGYQGM 
KGEKGSRGEK GSRGPKGYKG EKGKRGIDGV DGVKGEMGYP GLPGCKGSPG FDGIQGPPGP 
KGDPGAFGLK GEKGEPGADG EAGRPGSSGP SGDEGQPGEP GPPGEKGEAG DEGNPGPDGA 
PGERGGPGER GPRGTPGTRG PRGDPGEAGP QGDQGREGPV GVPGDPGEAG PIGPKGYRGD 
EGPPGSEGAR GAPGPAGPPG DPGLMGERGE DGPAGNGTEG FPGFPGYPGN RGAPGINGTK 
GYPGLKGDEG EAGDPGDDNN DIAPRGVKGA KGYRGPEGPQ GPPGHQGPPG PDECEILDII 
MKMCSCCECK CGPIDLLFVL DSSESIGLQN FEIAKDFVVK VIDRLSRDEL VKFEPGQSYA 
GVVQYSHSQM QEHVSLRSPS IRNVQELKEA IKSLQWMAGG TFTGEALQYT RDQLLPPSPN 
NRIALVITDG RSDTQRDTTP LNVLCSPGIQ VVSVGIKDVF DFIPGSDQLN VISCQGLAPS 
QGRPGLSLVK ENYAELLEDA FLKNVTAQIC IDKKCPDYTC PITFSSPADI TILLDGSASV 
GSHNFDTTKR FAKRLAERFL TAGRTDPAHD VRVAVVQYSG TGQQRPERAS LQFLQNYTAL 
ASAVDAMDFI NDATDVNDAL GYVTRFYREA SSGAAKKRLL LFSDGNSQGA TPAAIEKAVQ 
EAQRAGIEIF VVVVGRQVNE PHIRVLVTGK TAEYDVAYGE SHLFRVPSYQ ALLRGVFHQT 
VSRKVALG

The gene details are incomplete or unavailable at the moment.

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.

Details for: COL6A1

Associated with

Other Information

Sequence analysis of alpha 1(VI) and alpha 2(VI) chains of human type VI collagen reveals internal triplication of globular domains similar to the A domains of von Willebrand factor and two alpha 2(VI) chain variants that differ in the carboxy terminus. PubMed ID: 2551668

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). PubMed ID: 15489334

Recombinant expression and structural and binding properties of alpha 1(VI) and alpha 2(VI) chains of human collagen type VI. PubMed ID: 8168508

Human COL6A1: genomic characterization of the globular domains, structural and evolutionary comparison with COL6A2. PubMed ID: 9107679

Further characterization of the three polypeptide chains of bovine and human short-chain collagen (intima collagen). PubMed ID: 6852033

Amino acid sequence of the triple-helical domain of human collagen type VI. PubMed ID: 3198591

The exon organization of the triple-helical coding regions of the human alpha 1(VI) and alpha 2(VI) collagen genes is highly similar. PubMed ID: 1765372

Characterization of three constituent chains of collagen type VI by peptide sequences and cDNA clones. PubMed ID: 3665927

Cloning and chromosomal localization of human genes encoding the three chains of type VI collagen. PubMed ID: 3348212

Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry. PubMed ID: 19159218

Initial characterization of the human central proteome. PubMed ID: 21269460

Resveratrol-induced changes of the human adipocyte secretion profile. PubMed ID: 22905912

An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome. PubMed ID: 24275569

Type VI collagen mutations in Bethlem myopathy, an autosomal dominant myopathy with contractures. PubMed ID: 8782832

Novel mutations in collagen VI genes: expansion of the Bethlem myopathy phenotype. PubMed ID: 11865138

Dominant and recessive COL6A1 mutations in Ullrich scleroatonic muscular dystrophy. PubMed ID: 16130093

Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy. PubMed ID: 15689448

Detection of common and private mutations in the COL6A1 gene of patients with Bethlem myopathy. PubMed ID: 15955946

Reduced cell anchorage may cause sarcolemma-specific collagen VI deficiency in Ullrich disease. PubMed ID: 17785674

The impact of PYROXD1 deficiency on cellular respiration and correlations with genetic analyses of limb-girdle muscular dystrophy in Saudi Arabia and Sudan. PubMed ID: 30345904