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FLASH GENE

Symbol

BVES

contributors: mct/npt - updated : 22-08-2008

HGNC name	blood vessel epicardial substance
HGNC id	1152

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	6q21      Physical location : 105.544.699 - 105.584.543
Synonym name	popeye protein 1
Synonym symbol(s)	POP1, HBVES, MGC42413, POPDC1

DNA

TYPE	functioning gene
STRUCTURE	39.00 kb     8 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

text	four different transcripts differing in their tissue specificity

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed variant A 8 - 5437 41.3 360 - Andree, Feng (2008) variants A and B encode the same protein variant B 8 - 5507 41.3 360 - Andree, Feng (2008) variants A and B encode the same protein differing in the 5' and 3' UTRs compared to variant A

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         Digestive esophagus       highly Endocrine parathyroid       highly Hearing/Equilibrium ear       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Lymphoid         Muscular striatum cardiac     Muscular striatum skeletal

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal

Text	developing heart

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	three transmembrane helices with an extracellular C terminus
	cytoplasmic carboxyl terminal portion (amino acids 115
	358) contains the uncharacterized POPDC domain (23
	25)

HOMOLOGY

interspecies

ortholog to murine Bves

Homologene

FAMILY

POP family of proteins containing three putative transmembrane domains

CATEGORY

motor/contractile

SUBCELLULAR LOCALIZATION

plasma membrane

basic FUNCTION	playing an important role in development of cardiac and skeletal muscles
	involved in the regeneration of adult skeletal muscle
	acting as a cell adhesion molecule in coronary vasculogenesis

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

development

text	muscle development
	heart development

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	interacting with GEFT, a GEF for Rho-family GTPases, and colocalizing in adult skeletal muscle
	regulator of the RAC1 and CDC42 signaling

cell & other

REGULATION

Other

regulated by PAX3 or PAX3-FOXO1A

ASSOCIATED DISORDERS

corresponding disease(s)

Susceptibility

Variant & Polymorphism

Candidate gene	detection of methylation of the gene in blood might have utility in monitoring and detecting tumor recurrence in early-stage non-small cell lung cancer after curative surgical resection
Marker
Therapy target

ANIMAL & CELL MODELS