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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

Corresponding disease	BTHM1 Bethlem myopathy 1 UCMD3 Ullrich congenital muscular dystrophy 3
Location	21q22.3      Physical location : 47.401.662 - 47.424.963
Synonym name	collagen alpha-1
	human mRNA for collagen VI alpha-1 C-terminal globular domain9
Synonym symbol(s)	OPLL

DNA

TYPE	functioning gene
SPECIAL FEATURE	head to head
text	head to head with COL6A2
STRUCTURE	23.30 kb     35 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

Y

status

confirmed

Map	see PFKL PFKL ,COLOT1

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001848 35 - 4246 NP_001839 - 1028 - -

EXPRESSION

Type

widely

constitutive of

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular heart       highly   vessels         Hearing/Equilibrium ear inner cochlea   highly Nervous nerve       highly Visual eye anterior segment cornea

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective bone     highly

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

pregnancy

Text

placenta

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