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FLASH GENE

Symbol

ATP13A4

contributors: - updated : 15-12-2005

HGNC name	ATPase type 13A4
HGNC id	25422

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

EXPRESSION

Type

constitutive of

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 liver         Endocrine pancreas           placenta         Nervous brain       lowly Respiratory lung       lowly Urinary kidney       lowly

tissue

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

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal

Text	significantly higher in fetal brain than in adult brain

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	ten transmembrane segments
	a cation ATPase domain
	an E1-E2 ATPase domain
	a nucleotide-binding domain
	a hydrolase domain
	a phosphatase site

HOMOLOGY

interspecies

homolog to murine Atp13a4

Homologene

FAMILY

CATEGORY

transport

SUBCELLULAR LOCALIZATION

plasma membrane

basic FUNCTION

ATPase activity

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

text	cation transport

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule	nucleotide,
	ATP binding

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function   germinal mutation inversion --low   a paracentric inversion involving chromosome 3q25-q29 in a 7-year-old girl with language delay, the distal breakpoint disrupted the ATP13A4 gene and inactivating 1 copy of the gene

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS