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FLASH GENE

Symbol

PHACTR1

contributors: mct - updated : 15-04-2019

HGNC name	phosphatase and actin regulator 1
HGNC id	20990

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	EIEE70 epileptic encephalopathy, early infantile, 70
Location	6p24.1      Physical location : 12.717.832 - 13.287.528
Synonym name	RPEL repeat containing 1
Synonym symbol(s)	KIAA1733, dJ257A7.2, RPEL1, EIEE70, RPEL, MGC126575, MGC126577

DNA

TYPE	functioning gene
STRUCTURE	573.63 kb     12 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_030948 18 - 3045 NP_112210 - 580 - 2018 29884117 NM_001242648 18 - 2855 NP_001229577 - 580 - 2018 29884117 NM_001322308 14 - 2810 NP_001309237 - 580 - 2018 29884117 NM_001322309 14 - 2701 NP_001309238 - 580 - 2018 29884117 NM_001322310 14 - 2776 NP_001309239 - 649 - 2018 29884117 NM_001322311 12 - 2462 NP_001309240 - 488 - 2018 29884117 NM_001322312 12 - 2825 NP_001309241 - 488 - 2018 29884117 NM_001322313 13 - 3032 NP_001309242 - 557 - 2018 29884117 NM_001322314 13 - 2964 NP_001309243 - 650 - 2018 29884117

EXPRESSION

Type

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       highly Homo sapiens Endocrine pancreas       moderately Lymphoid/Immune spleen       moderately Nervous brain basal nuclei caudate nucleus   highly Homo sapiens   brain limbic system hippocampus   highly Homo sapiens   spinal cord       moderately Reproductive female system ovary     moderately   male system testis     lowly Respiratory lung       moderately Urinary kidney       moderately

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular smooth vessel   highly Homo sapiens Nervous central     highly Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal

Text	brain (highly), liver (lowly)

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

three RPEL repeats

HOMOLOGY

interspecies

homolog to murine Rpel1

Homologene

FAMILY

CATEGORY

regulatory

SUBCELLULAR LOCALIZATION	plasma membrane,junction
	intracellular
	intracellular,cytoplasm,cytosolic
	intracellular,nucleus

basic FUNCTION	inhibits PP1 enzymatic activity
	PHACTR1 is likely to be a key regulator of endothelial cell function properties
	PHACTR1 is a key component in the angiogenic process
	PHACTR1 gene expression increases with the progression of calcification and regulation of PHACTR1 in SMCs modulates the severity of vascular calcification
	PHACTR1 takes part in neuronal functions regulated in a spatiotemporal manner
	PHACTR1 locus has also been involved in vascular hypertrophy in normal subjects, carotid dissection, migraine and coronary artery disease

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	interacting with PP1 and actin
	NRP1 regulates a new VEGF-induced gene, PHACTR1
	PHACTR1 seems to regulate the skeletal to cardiac alpha-actin isoform ratio
	regulates oxidative stress and inflammation to coronary artery endothelial cells via interaction with NFKB1/RELA

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

EIEE70

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --over   in carotid plaques compared with normal carotid arteries

Susceptibility

to coronary artery disease (CAD) to coronary artery disease (CAD) events in familial hypercholesterolemia to fibromuscular dysplasia (FMD)

Variant & Polymorphism SNP	variant (rs9349379) is associated with coronary artery disease (CAD)
	rs12526453 SNP of the PHACTR1 gene is significantly associated with a 50 p100 reduction in the odds of coronary artery disease (CAD) events in familial hypercholesterolemia (FH)

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed miscelleaneous vascular   may represent a new target for the development of anti-angiogenic therapy

ANIMAL & CELL MODELS