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FLASH GENE

Symbol

ATP5E

contributors: mct - updated : 28-01-2011

HGNC name	ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit
HGNC id	838

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	MC5DN3 mitochondrial complex V (ATP synthase) deficiency nuclear type 3
Location	20q13.32      Physical location : 57.603.733 - 57.607.422
Synonym name	H(+)-transporting two-sector ATPase
	F(0)F(1)-ATPase
Synonym symbol(s)	ATPE, MGC104243, MC5DN3
EC.number	3.6.3.14

DNA

TYPE	functioning gene
STRUCTURE	3.69 kb     3 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

Map	cen - D20S183 - D20S913 - D20S120 - D20S832 - BMP7 - CSTF1 - D20S102 - GNAS - D20S171 - EDN3 - ATP5E - D20S173 - qter

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001001977 3 - 498 NP_001001977 5.6 51 - 2000 20450493 lacks the cleavable import sequence and exerts a high degree of homology with the slightly larger 62AAs yeast E protein, encoded by the ATP15 gene in Saccharomyces cerevisiae NM_006886 3 - 417 NP_008817 5.6 51 - 2000 20450493

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 Cardiovascular heart

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

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

conserved motif of 24 residues called the ATP5E motif

HOMOLOGY

Homologene

FAMILY

eukaryotic ATPase epsilon family

CATEGORY

enzyme , transport

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,mitochondria,matrix
	intracellular,nucleus

basic FUNCTION	key enzyme of mitochondrial energy provision producing most of cellular ATP
	nuclear encoded subunit of mammalian ATP synthase
	essential for the assembly of F1 and plays an important role in the incorporation of the hydrophobic subunit c into the F1-c oligomer rotor of the mitochondrial ATP synthase complex

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

text

protein

PATHWAY

metabolism

energetic

signaling

oxydative phosphorylation

a component	constituent of mitochondrial matrix F1 segment
	component of complex V of oxidative phosphorylation (OXPHOS)

INTERACTION

DNA

RNA

small molecule	nucleotide,
	ADP
	ATP
	Pi binding

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

MC5DN3

related resource

MITOP database

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS