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FLASH GENE

Symbol

COL6A1

contributors: mct - updated : 17-11-2012

HGNC name	collagen, type VI, alpha 1
HGNC id	2211

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	three von Willebrand factor A-like modules, one N terminal
	two C terminal, flanking the collagen triple helix repeat domain

conjugated

GlycoP

mono polymer

heteromer , trimer

HOMOLOGY

interspecies

homolog to murine Col6a1

Homologene

FAMILY

type VI collagen family

CATEGORY

structural protein

SUBCELLULAR LOCALIZATION	extracellular
text	extracellular matrix

basic FUNCTION	involved in the maintenance of extracellular matrix
	acting as a cell-binding protein

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

COL6A1, COL6A2, CRELD1, FBLN2, FRZB, and GATA5 harboring purportedly deleterious case-specific variants in atrioventricular septal defects (AVSD)are associated in some way with VEGFA

a component	trimers composed of three different chains: alpha 1(VI), alpha 2(VI), and alpha 3(VI)
	major components of microfibrils
	collagen VI for ternary complex with TGFBI and SLRPs

INTERACTION

DNA

RNA

small molecule

protein	collagens and other proteins of the extracellular matrix
	processed by BMP1
	expression responsive to VEGFA

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

BTHM1 , UCMD3

Susceptibility

to ossification of the posterior longitudinal ligament of the spine to Down-syndrome atrioventricular septal defects

Variant & Polymorphism SNP

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS