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FLASH GENE

Symbol

COL8A1

contributors: mct - updated : 03-09-2010

HGNC name	collagen, type VIII, alpha 1
HGNC id	2215

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	3q12.1      Physical location : 99.357.453 - 99.515.158
Synonym name	chromosome 3 open reading frame 7
	smooth muscle cell-expressed and macrophage conditioned
	medium-induced protein smag-64
	cell proliferation-inducing protein 41
	endothelial collagen
Synonym symbol(s)	MGC9568, C3orf7

DNA

TYPE	functioning gene
STRUCTURE	157.71 kb     5 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

text	these variants encodent the same protein

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001850 5 - 2676 NP_001841 73 744 - Aldave (2006) NM_020351 4 - 2614 NP_065084 73 744 - Aldave (2006)

EXPRESSION

Type

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 Skin/Tegument skin         Visual eye anterior segment cornea

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective         Epithelial barrier/lining

cells

System Cell Pubmed Species Stage Rna symbol Cardiovascular endothelial cell

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	network forming collagen with a GLy-X-Y repeat sequence interspersed by small interruptions
	a C1Q domain

conjugated

GlycoP

mono polymer

homomer , heteromer , trimer

HOMOLOGY

interspecies

ortholog to murine Col8a1 (87 pc)

Homologene

FAMILY

collagen family

CATEGORY

structural protein

SUBCELLULAR LOCALIZATION	extracellular
text	vascular subendothelial matrices

basic FUNCTION	play a central role in maintaining the integrity and stability of the undiseased as well as of the atherosclerotic vessel wall
	structure of cornea
	may be playing an essential role for notochord morphogenesis (Gansner 2008)

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

constituent of Descemet membrane (posterior lining membrane of cornea)

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

ANIMAL & CELL MODELS