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FLASH GENE

Symbol

ATPAF2

contributors: mct - updated : 10-11-2006

HGNC name	ATP synthase mitochondrial F1 complex assembly factor 2
HGNC id	18802

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	C5MTND mitochondrial complex 5 deficiency
Location	17p11.2      Physical location : 17.921.333 - 17.942.480
Synonym name	ATP12 homolog
Synonym symbol(s)	ATP12, ATP12p, MGC29736, LP3663

DNA

TYPE	functioning gene
STRUCTURE	21.15 kb     8 Exon(s)

10 Kb 5' upstream gene genomic sequence study

text structure

housekeeping gene

MAPPING

cloned

Y

linked

N

status

confirmed

Map	see SMCR (phenotype)

regionally located

within the Smith-Magenis critical region

RNA

TRANSCRIPTS	type	messenger

text	several alternative transcripts

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_145691 8 - 1552 NP_663729 - 289 - -

EXPRESSION

Type	ubiquitous

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       highly Nervous brain       highly Respiratory lung       highly

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

embryo, fetal

Text

whole

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

a highly conserved acidic residue near the C terminus

HOMOLOGY

interspecies

ortholog to yeast S.cerevisiae,assembly of the F1 component of the mitochondrial ATPase

intraspecies

paralog to ATPAF1

Homologene

FAMILY

ATP12 family

CATEGORY

chaperone/stress

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,mitochondria
	intracellular,cytoplasm,organelle,membrane

basic FUNCTION	preventing the ATP factor for the F(1) component from forming non productive homooligomers during enzyme assembly
	with ATPAF1, are proteins required for the assembly of beta (F(1)-beta) and alpha (F(1)-alpha) subunits into the mitochondrial ATPase
	required for the F1 assembly, preserved in all eukaryotic lineages that are capable of ATP synthesis via oxidative phosphorylation

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

drug

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

binding to F1 beta subunits

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

C5MTND

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS