Collagen, type VI, alpha 3

COL6A3
Available structures
PDB	Human UniProt search: PDBe RCSB
List of PDB id codes
	1KNT, 1KTH, 1KUN, 2KNT
Identifiers
Aliases	COL6A3, DYT27, BTHLM1, UCMD1, collagen type VI alpha 3, collagen type VI alpha 3 chain
External IDs	OMIM: 120250 MGI: 88461 HomoloGene: 37917 GeneCards: COL6A3
Gene location (Human)
Chr.	Chromosome 2 (human)
End	237,414,328 bp
Gene location (Mouse)
Chr.	Chromosome 1 (mouse)
End	90,843,971 bp
RNA expression pattern
	Top expressed in
	stromal cell of endometrium; ; visceral pleura; ; periodontal fiber; ; synovial membrane; ; synovial joint; ; parietal pleura; ; saphenous vein; ; pericardium; ; urethra; ; tibia;
	Top expressed in
	belly cord; ; dermis; ; calvaria; ; cervix; ; body of femur; ; left lung lobe; ; vas deferens; ; ankle; ; skin of back; ; condyle;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	peptidase inhibitor activity; serine-type endopeptidase inhibitor activity; extracellular matrix structural constituent conferring tensile strength;
Cellular component	extracellular matrix; extracellular vesicle; collagen type VI trimer; sarcolemma; collagen; endoplasmic reticulum lumen; extracellular exosome; extracellular space; extracellular region; collagen-containing extracellular matrix;
Biological process	collagen catabolic process; muscle organ development; negative regulation of peptidase activity; cell adhesion; extracellular matrix organization; negative regulation of endopeptidase activity; growth plate cartilage chondrocyte morphogenesis;
	Sources:Amigo / QuickGO
Orthologs
	1293
	12835
	ENSG00000163359
	ENSMUSG00000048126
	P12111
	n/a
	NM_004369; NM_057164; NM_057165; NM_057166; NM_057167
	NM_001243008; NM_001243009; NM_009935
	NP_004360; NP_476505; NP_476506; NP_476507; NP_476508
	n/a
	Wikidata
View/Edit Human	View/Edit Mouse

Collagen alpha-3(VI) chain is a protein that in humans is encoded by the COL6A3 gene. This protein is an alpha chain of type VI collagen that aids in microfibril formation. As part of type VI collagen, this protein has been implicated in Bethlem myopathy, Ullrich congenital muscular dystrophy (UCMD), and other diseases related to muscle and connective tissue.

This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.