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FLASH GENE

Symbol

ATP6AP1

contributors: mct - updated : 12-09-2017

HGNC name	ATPase, H+ transporting, lysosomal accessory protein 1
HGNC id	868

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	IMD47 Immunodeficiency 47
Location	Xq28      Physical location : 153.656.977 - 153.664.862
Synonym name	DNA segment,single copy,probe 1010-8/9 (EST)
	ATPase, H+ transporting, lysosomal (vacuolar proton pump), subunit 1
	ATPase, H+ transporting, lysosomal interacting protein 1
	V-ATPase S1 accessory protein
Synonym symbol(s)	ATP6IP1, 16A, DXS1010E, VATPS1, XAP3, ORF, VAS1, ATP6S1, CF2, AC45
EC.number	3.6.3.14

DNA

TYPE	functioning gene
STRUCTURE	7.89 kb     10 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

Map

see FLNA

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001183 10 - 2100 NP_001174 - 470 - 2011 21622230

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 Endocrine pancreas         Homo sapiens

cells

System Cell Pubmed Species Stage Rna symbol Endocrine islet cell (alpha,beta...) Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	N terminal signas sequence and C terminal transmembrane domain
	domains located in the N- and C-terminal portions of ATP6AP1 protein direct its trafficking, V-ATPase recruitment and Ca(2+)-dependent-regulated exocytosis
	cytoplasmic terminus of ATP6AP1 is required for proper interaction with V(0) domain subunits and efficient osteoclastic bone resorption

secondary structure

ten subunits

conjugated

GlycoP

HOMOLOGY

interspecies

homolog to murine Atp6s1

Homologene

FAMILY

V-ATPase family

CATEGORY

enzyme , transport carrier

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,endoplasmic reticulum
	intracellular,cytoplasm,organelle,endosome
	intracellular,cytoplasm,organelle,lysosome
	intracellular,cytoplasm,cytosolic,granule
text	neuroendocrine secretory granules
	integral membrane protein

basic FUNCTION	vacuolar proton pump mediating acidification of intracellular organelles (necessary for protein sorting zymogen activation and receptor mediated endocytosis)
	assisting in the V-ATPase mediated acidification of neuroendocrine secretory granules
	essential role for ATP6AP1 in early embryonic development
	in the plasma membrane of a variety of cells ATP6A1 serves as an acid-secreting pathway, and its activity is closely related to cellular functions
	participates in both osteoclast formation and function, but plays versatile roles during osteoclast formation and function
	essential role in osteoclast-mediated extracellular acidification and protease exocytosis, as well as the ability of ATP6AP1 to guide lysosomal intracellular trafficking to the ruffled border, potentially through its interaction with the small GTPase RAB7A
	crucial for maintenance of the acidic microenvironment in intracellular organelles

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

active transport , electron transport

text	proton transport

PATHWAY

metabolism

energetic

signaling

a component	component of a multisubunit enzyme comprised of a cytosolic V1 (site of the ATP catalytic site) and a transmembrane V0 domain
	composed of at least ten subunits

INTERACTION

DNA

RNA

small molecule	nucleotide,
	ATP

protein	important role for furin in regulated secretion, particularly in intragranular acidification most likely due to impaired processing of ATP6AP1
	accessory subunit of vacuolar-type H(+)-ATPases (V-ATPases), highly induced by receptor activator for nuclear factor kappa B ligand (TNFSF11) in osteoclast differentiation

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

IMD47

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS