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FLASH GENE

Symbol

COL15A1

contributors: mct/npt - updated : 02-11-2006

HGNC name	collagen, type XV, alpha 1
HGNC id	2192

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

EXPRESSION

Type

widely

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           vessels         Digestive liver         Endocrine adrenal gland           pancreas         Respiratory lung         Urinary kidney

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial secretory glandular endocrine   Membrane basement membrane       Muscular smooth       Muscular striatum cardiac     Muscular striatum skeletal

cells

System Cell Pubmed Species Stage Rna symbol Lymphoid/Immune stellate

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

embryo, fetal

Text	adrenals, kidney, pancreas

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	fibril-associated collagens with interrupted helices (FACIT)
	a N terminal thrombospondin domain
	nine collagenous domains
	a laminin G domain and O-tandem repeat structure in the C-terminal

conjugated

GlycoP

mono polymer

homomer , trimer

isoforms

Precursor

precursor of restin (a potent anti angiogenic protein) which is proteolytically processed by the C terminal fragment of COL XV

HOMOLOGY

interspecies

ortholog to murine Col15a1

intraspecies

homolog to COL XVIII

Homologene

FAMILY

multiplexin collagen family

CATEGORY

adhesion , structural protein

SUBCELLULAR LOCALIZATION	extracellular
text	extracellular matrix

basic FUNCTION

adhesion of basement membrane to connective tissue stroma

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

cardiovascular , development

text	anti-angiogenic by its C terminus (restin)

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --low   by hypermethylation in renal cell carcinoma (Morris 2010)

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

Col15a1 deficient mice develop a skeletal myopathy and cardiovascular defects