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FLASH GENE

Symbol

AGGF1

contributors: SGE/npt - updated : 09-10-2009

HGNC name	angiogenic factor with G patch and FHA domains 1
HGNC id	24684

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	KTWS1 Klippel-Trenaunay-Weber syndrome
Location	5q13.3      Physical location : 76.326.231 - 76.361.035
Synonym name	vasculogenesis gene on 5q
	angiogenic factor VG5Q
Synonym symbol(s)	VG5Q, FLJ10283, HSU84971, GPATC7, GPATCH7

DNA

TYPE	functioning gene
STRUCTURE	34.80 kb     14 Exon(s)

regulatory sequence	Promoter
	Binding site   silencer   transcription factor
text structure	two repressor sites (-1971 to -3990 and -7521 to -8391) (Fan 2009)
	two activator sites (a GATA1 binding site in -295 to -300, -125 to -159) (Fan 2009)

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_018046 14 - 4480 NP_060516 - 714 - -

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 Lymphoid/Immune lymph node         Reproductive male system prostate       Urinary kidney

tissue

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

cells

System Cell Pubmed Species Stage Rna symbol Cardiovascular endothelial cell Skeleton osteoblast

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal

Text

pancreas

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	one G-patch domain
	one FHA domain

HOMOLOGY

interspecies	homolog to murine Aggf1 (78.7pc)
	homolog to rattus Aggf1 (76.6pc)

Homologene

FAMILY

CATEGORY

regulatory , secretory

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm
text	cytoplasmic in microvascular endothelial cells
	secreted when endothelial cell tube formation is initiated upon angiogenesis

basic FUNCTION	acting as a potent angiogenic factor
	can bind to endothelial cells and promote cell proliferation
	may act in an autocrine fashion

CELLULAR PROCESS	cell life, differentiation
	cell life, proliferation/growth

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

two-component sensor molecule activity

INTERACTION

DNA

RNA

small molecule	metal binding,
	ion Zn2+

protein

interacting with secreted angiogenic factor TNFSF12

cell & other

REGULATION

induced by

GATA1 binding on its activator site (Fan 2009)

ASSOCIATED DISORDERS

corresponding disease(s)

KTWS1

Susceptibility

Klippel-Trenaunay syndrome (KTS)

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS