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FLASH GENE

Symbol

VWA1

contributors: mct - updated : 30-11-2010

HGNC name	von Willebrand factor A domain containing 1
HGNC id	30910

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	1p36.33      Physical location : 1.370.902 - 1.378.261
Synonym name	von Willebrand factor A domain-related protein
Synonym symbol(s)	FLJ22215, VWA-1, WARP, DKFZp761O051

DNA

TYPE	functioning gene
STRUCTURE	8.03 kb     3 Exon(s)

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_022834 3 - 4659 NP_073745 46.8 445 - 2002 12062410 NM_199121 3 - 4264 NP_954572 24.5 64 - 2002 12062410

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 vessel capillary       Homo sapiens Endocrine pancreas       highly Hearing/Equilibrium ear inner vestibule   highly Homo sapiens

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective cartilage     specific Nervous peripherous       Homo sapiens

cells

System Cell Pubmed Species Stage Rna symbol Cardiovascular endothelial cell Homo sapiens Hearing / Equilibrium hair cell receptor Homo sapiens not specific chondrocyte

cell lineage

cell lines

fluid/secretion

at STAGE

Text	also expressed in the apical ectodermal ridge of developing limb buds, and in skeletal and cardiac muscle

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a signal sequence
	a VA-like domain
	two fibronectin type III-like repeats, and a short proline- and arginine-rich segment

conjugated

GlycoP

HOMOLOGY

Homologene

FAMILY

von Willebrand factor A-domain superfamily of extracellular matrix proteins

CATEGORY

SUBCELLULAR LOCALIZATION	extracellular
text	predominantly in chondrocytes
	specific for the chondrocyte pericellular microenvironment and co-localizes with perlecan, a prominent component of the chondrocyte pericellular region
	expressed in the vasculature of neural tissues and in basement membrane structures of the peripheral nervous system

basic FUNCTION	multimeric multidomain glycoprotein secreted into the blood from vascular endothelial cells, initiating platelet adhesion at sites of vascular injury
	may play a role in cartilage structure and function
	component of the chondrocyte pericellular matrix in articular cartilage and intervertebral disc, where it interacts with the basement membrane heparan sulfate proteoglycan perlecan
	may have an important function in stabilizing the association of the collagenous interstitial matrix with the Schwann cell basement membrane
	has critical roles in the structure and function of peripheral nerves
	may be having an important role in maintaining the blood-brain barrier
	its localization in the inner ear vasculature suggests an important role in maintaining its integrity

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

component of a limited range of specialized basement membranes provides further evidence for the heterogeneous composition of basement membranes between different tissues

INTERACTION

DNA

RNA

small molecule

protein	interacts with domain III-2 of the perlecan core protein and the heparan sulfate chains of the perlecan domain I (contribute to the assembly and/or maintenance of "permanent" cartilage structures during development and in mature cartilages)
	interacts with perlecan, and binds type VI collagen, suggesting a function in bridging connective tissue structures

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

WARP-null mice exhibited a significantly delayed response to acute painful stimulus and impaired fine motor coordination, although general motor function was not affected, suggesting compromised peripheral nerve function