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FLASH GENE

Symbol

PLEKHG4

contributors: mct/npt - updated : 25-08-2015

HGNC name	pleckstrin homology domain containing, family G (with RhoGef domain) member 4
HGNC id	24501

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	16q22.1      Physical location : 67.311.412 - 67.323.402
Synonym name	puratrophin-1
	Purkinje cell atrophy associated protein-1
Synonym symbol(s)	DKFZP434I216, SCA4, PRTPHN1, ARHGEF44

DNA

TYPE	functioning gene
STRUCTURE	11.68 kb     21 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 variant 1 21 - 6818 131 1191 - 2005 16001362 NM_001129731 18 - 4561 NP_001123203 123 1110 - 2005 16001362 NM_001129729 19 - 4555 NP_001123201 130.8 1191 - 2005 16001362 NM_001129728 19 - 4582 NP_001123200 130.8 1191 - 2005 16001362 NM_001129727 23 - 4622 NP_001123199 130.8 1191 - 2005 16001362

EXPRESSION

Type	ubiquitous

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 Hearing/Equilibrium ear inner cochlea     Nervous brain hindbrain cerebellum

cells

System Cell Pubmed Species Stage Rna symbol Hearing / Equilibrium epithelial cell Nervous Purkinje cell

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	one PH domain
	a spectrin repeat
	a guanine-nucleotide exchange factor (GEF) for Rho GTPases
	a Dbl-homologous domain
	the cellular retinaldehyde-binding (CRAL)/triple function domain (TRIO) (at codons 304338)

conjugated

PhosphoP

HOMOLOGY

interspecies	ortholog to chimpanzee LOC454164
	ortholog to murine Plekhg4

Homologene

FAMILY

CATEGORY

regulatory

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus

basic FUNCTION	playing a role in intracellular signaling and actin dynamics at the Golgi apparatus (Ishikawa 2005)
	functions as a bona fide guanine nucleotide exchange factor (GEF) that facilitates activation of the small GTPases RAC1, CDC42, and RHOA
	aggregation-prone member of the Dbl family GEFs

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	interacting with ATXN1
	PLEKHG4 regulates RAC1 downstream of AKT2, leading to the stimulation of glucose uptake in skeletal muscle

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS