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ATPase H+ transporting accessory protein 1

Summary

Gene Symbol

ATP6AP1

Aliases

16A
Ac45
CF2
ORF
VATPS1
X-associated protein 3
XAP-3
XAP3
vacuolar ATPase subunit S1

Organism

Homo sapiens (human)

External Links

NCBI Gene

537

HGNC

868

KEGG Gene ID

hsa:537

PubChem

537

Alliance of Genome Resources

HGNC:868

Annotation

Keyword

3D-structure
Congenital disorder of glycosylation
Cytoplasmic vesicle
Disease variant
Disulfide bond
Endoplasmic reticulum
Glycoprotein
Hydrogen ion transport
Phosphoprotein
Reference proteome
Signal
Synapse
Transmembrane helix

Proteins

Displaying **all 2** entries
UniProt	Protein Name
A0A384MQW4
Q15904	Protein XAP-3 V-ATPase Ac45 subunit V-ATPase S1 accessory protein Vacuolar proton pump subunit S1

Annotation information from UniProt.

Gene Ontology (GO)

Displaying entries **1 - 5** of 12 in total

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GO Term	Evidence Code	PMID
osteoclast development	ISS
endosome to plasma membrane protein transport	ISS
Golgi lumen acidification		32001091
synaptic vesicle lumen acidification	IEA
intracellular pH reduction		32001091

GO Hierarchy

biological process

cellular process [inference]

vesicle-mediated transport [inference]

endosomal transport [inference]

endocytic recycling [inference]

endosome to plasma membrane protein transport

vesicle-mediated transport to the plasma membrane [inference]

endocytic recycling [inference]

endosome to plasma membrane protein transport

cellular developmental process [inference]

cell development [inference]

hemopoiesis [inference]

myeloid cell development [inference]

osteoclast development

bone cell development [inference]

osteoclast development

cellular localization [inference]

intracellular transport [inference]

intracellular protein transport [inference]

endosome to plasma membrane protein transport

endosomal transport [inference]

endocytic recycling [inference]

endosome to plasma membrane protein transport

localization within membrane [inference]

protein localization to membrane [inference]

protein localization to plasma membrane [inference]

establishment of protein localization to plasma membrane [inference]

endosome to plasma membrane protein transport

establishment of protein localization to membrane [inference]

establishment of protein localization to plasma membrane [inference]

endosome to plasma membrane protein transport

vesicle-mediated transport to the plasma membrane [inference]

endocytic recycling [inference]

endosome to plasma membrane protein transport

cellular macromolecule localization [inference]

protein localization [inference]

establishment of protein localization [inference]

protein transport [inference]

intracellular protein transport [inference]

endosome to plasma membrane protein transport

establishment of protein localization to membrane [inference]

establishment of protein localization to plasma membrane [inference]

endosome to plasma membrane protein transport

protein localization to membrane [inference]

protein localization to plasma membrane [inference]

establishment of protein localization to plasma membrane [inference]

endosome to plasma membrane protein transport

establishment of protein localization to membrane [inference]

establishment of protein localization to plasma membrane [inference]

endosome to plasma membrane protein transport

protein localization to cell periphery [inference]

protein localization to plasma membrane [inference]

establishment of protein localization to plasma membrane [inference]

endosome to plasma membrane protein transport

cellular response to stimulus [inference]

cellular response to chemical stimulus [inference]

cellular response to oxygen levels [inference]

cellular response to increased oxygen levels

transmembrane transport [inference]

monoatomic ion transmembrane transport [inference]

monoatomic cation transmembrane transport [inference]

proton transmembrane transport

synaptic vesicle lumen acidification

inorganic ion transmembrane transport [inference]

inorganic cation transmembrane transport [inference]

proton transmembrane transport

synaptic vesicle lumen acidification

developmental process [inference]

anatomical structure development [inference]

cell development [inference]

hemopoiesis [inference]

myeloid cell development [inference]

osteoclast development

bone cell development [inference]

osteoclast development

cellular developmental process [inference]

cell development [inference]

hemopoiesis [inference]

myeloid cell development [inference]

osteoclast development

bone cell development [inference]

osteoclast development

homeostatic process [inference]

cellular homeostasis [inference]

intracellular chemical homeostasis [inference]

intracellular monoatomic ion homeostasis [inference]

intracellular monoatomic cation homeostasis [inference]

intracellular iron ion homeostasis

regulation of cellular pH

regulation of intracellular pH [inference]

regulation of lysosomal lumen pH [inference]

lysosomal lumen acidification

intracellular pH reduction

vacuolar acidification

lysosomal lumen acidification

neuron cellular homeostasis [inference]

synaptic vesicle lumen acidification

chemical homeostasis [inference]

monoatomic ion homeostasis [inference]

intracellular monoatomic ion homeostasis [inference]

intracellular monoatomic cation homeostasis [inference]

intracellular iron ion homeostasis

regulation of cellular pH

regulation of intracellular pH [inference]

regulation of lysosomal lumen pH [inference]

lysosomal lumen acidification

intracellular pH reduction

vacuolar acidification

lysosomal lumen acidification

monoatomic cation homeostasis [inference]

regulation of pH [inference]

regulation of cellular pH

regulation of intracellular pH [inference]

regulation of lysosomal lumen pH [inference]

lysosomal lumen acidification

intracellular pH reduction

vacuolar acidification

lysosomal lumen acidification

intracellular monoatomic cation homeostasis [inference]

intracellular iron ion homeostasis

regulation of cellular pH

regulation of intracellular pH [inference]

regulation of lysosomal lumen pH [inference]

lysosomal lumen acidification

intracellular pH reduction

vacuolar acidification

lysosomal lumen acidification

intracellular chemical homeostasis [inference]

intracellular monoatomic ion homeostasis [inference]

intracellular monoatomic cation homeostasis [inference]

intracellular iron ion homeostasis

regulation of cellular pH

regulation of intracellular pH [inference]

regulation of lysosomal lumen pH [inference]

lysosomal lumen acidification

intracellular pH reduction

vacuolar acidification

lysosomal lumen acidification

inorganic ion homeostasis [inference]

intracellular iron ion homeostasis

response to stimulus [inference]

response to abiotic stimulus [inference]

response to oxygen levels [inference]

response to increased oxygen levels [inference]

cellular response to increased oxygen levels

cellular response to oxygen levels [inference]

cellular response to increased oxygen levels

response to chemical [inference]

cellular response to chemical stimulus [inference]

cellular response to oxygen levels [inference]

cellular response to increased oxygen levels

cellular response to stimulus [inference]

cellular response to chemical stimulus [inference]

cellular response to oxygen levels [inference]

cellular response to increased oxygen levels

localization [inference]

macromolecule localization [inference]

cellular macromolecule localization [inference]

protein localization [inference]

establishment of protein localization [inference]

protein transport [inference]

intracellular protein transport [inference]

endosome to plasma membrane protein transport

establishment of protein localization to membrane [inference]

establishment of protein localization to plasma membrane [inference]

endosome to plasma membrane protein transport

protein localization to membrane [inference]

protein localization to plasma membrane [inference]

establishment of protein localization to plasma membrane [inference]

endosome to plasma membrane protein transport

establishment of protein localization to membrane [inference]

establishment of protein localization to plasma membrane [inference]

endosome to plasma membrane protein transport

protein localization to cell periphery [inference]

protein localization to plasma membrane [inference]

establishment of protein localization to plasma membrane [inference]

endosome to plasma membrane protein transport

establishment of localization [inference]

transport [inference]

monoatomic ion transport [inference]

monoatomic cation transport [inference]

monoatomic cation transmembrane transport [inference]

proton transmembrane transport

synaptic vesicle lumen acidification

monoatomic ion transmembrane transport [inference]

monoatomic cation transmembrane transport [inference]

proton transmembrane transport

synaptic vesicle lumen acidification

vesicle-mediated transport [inference]

endosomal transport [inference]

endocytic recycling [inference]

endosome to plasma membrane protein transport

vesicle-mediated transport to the plasma membrane [inference]

endocytic recycling [inference]

endosome to plasma membrane protein transport

intracellular transport [inference]

intracellular protein transport [inference]

endosome to plasma membrane protein transport

endosomal transport [inference]

endocytic recycling [inference]

endosome to plasma membrane protein transport

transmembrane transport [inference]

monoatomic ion transmembrane transport [inference]

monoatomic cation transmembrane transport [inference]

proton transmembrane transport

synaptic vesicle lumen acidification

inorganic ion transmembrane transport [inference]

inorganic cation transmembrane transport [inference]

proton transmembrane transport

synaptic vesicle lumen acidification

organic substance transport [inference]

protein transport [inference]

intracellular protein transport [inference]

endosome to plasma membrane protein transport

nitrogen compound transport [inference]

protein transport [inference]

intracellular protein transport [inference]

endosome to plasma membrane protein transport

establishment of protein localization [inference]

protein transport [inference]

intracellular protein transport [inference]

endosome to plasma membrane protein transport

establishment of protein localization to membrane [inference]

establishment of protein localization to plasma membrane [inference]

endosome to plasma membrane protein transport

establishment of localization in cell [inference]

intracellular transport [inference]

intracellular protein transport [inference]

endosome to plasma membrane protein transport

endosomal transport [inference]

endocytic recycling [inference]

endosome to plasma membrane protein transport

synaptic vesicle lumen acidification

cellular localization [inference]

intracellular transport [inference]

intracellular protein transport [inference]

endosome to plasma membrane protein transport

endosomal transport [inference]

endocytic recycling [inference]

endosome to plasma membrane protein transport

localization within membrane [inference]

protein localization to membrane [inference]

protein localization to plasma membrane [inference]

establishment of protein localization to plasma membrane [inference]

endosome to plasma membrane protein transport

establishment of protein localization to membrane [inference]

establishment of protein localization to plasma membrane [inference]

endosome to plasma membrane protein transport

vesicle-mediated transport to the plasma membrane [inference]

endocytic recycling [inference]

endosome to plasma membrane protein transport

cellular macromolecule localization [inference]

protein localization [inference]

establishment of protein localization [inference]

protein transport [inference]

intracellular protein transport [inference]

endosome to plasma membrane protein transport

establishment of protein localization to membrane [inference]

establishment of protein localization to plasma membrane [inference]

endosome to plasma membrane protein transport

protein localization to membrane [inference]

protein localization to plasma membrane [inference]

establishment of protein localization to plasma membrane [inference]

endosome to plasma membrane protein transport

establishment of protein localization to membrane [inference]

establishment of protein localization to plasma membrane [inference]

endosome to plasma membrane protein transport

protein localization to cell periphery [inference]

protein localization to plasma membrane [inference]

establishment of protein localization to plasma membrane [inference]

endosome to plasma membrane protein transport

biological regulation [inference]

regulation of pH [inference]

regulation of cellular pH

regulation of intracellular pH [inference]

regulation of lysosomal lumen pH [inference]

lysosomal lumen acidification

intracellular pH reduction

vacuolar acidification

lysosomal lumen acidification

regulation of biological quality [inference]

regulation of intracellular pH [inference]

regulation of lysosomal lumen pH [inference]

lysosomal lumen acidification

intracellular pH reduction

vacuolar acidification

lysosomal lumen acidification

Displaying entries **1 - 5** of 12 in total

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GO Term	Evidence Code	PMID
endoplasmic reticulum-Golgi intermediate compartment membrane	IEA
clathrin-coated vesicle membrane	IEA
proton-transporting V-type ATPase complex	IBA NAS	33065002
endoplasmic reticulum membrane	IEA
plasma membrane		32001091

GO Hierarchy

cellular component

protein-containing complex [inference]

membrane protein complex [inference]

proton-transporting two-sector ATPase complex

proton-transporting V-type ATPase complex

catalytic complex [inference]

ATPase complex [inference]

proton-transporting two-sector ATPase complex

proton-transporting V-type ATPase complex

cellular anatomical entity [inference]

membrane

plasma membrane

organelle membrane [inference]

endoplasmic reticulum membrane

vesicle membrane [inference]

cytoplasmic vesicle membrane [inference]

endosome membrane

transport vesicle membrane [inference]

exocytic vesicle membrane [inference]

synaptic vesicle membrane

coated vesicle membrane [inference]

clathrin-coated vesicle membrane

bounding membrane of organelle [inference]

Golgi membrane

vacuolar membrane [inference]

lytic vacuole membrane [inference]

lysosomal membrane

endosome membrane

transport vesicle membrane [inference]

exocytic vesicle membrane [inference]

synaptic vesicle membrane

coated vesicle membrane [inference]

clathrin-coated vesicle membrane

endoplasmic reticulum-Golgi intermediate compartment membrane

organelle [inference]

membrane-bounded organelle [inference]

vesicle [inference]

extracellular vesicle [inference]

extracellular exosome

extracellular membrane-bounded organelle [inference]

extracellular vesicle [inference]

extracellular exosome

extracellular organelle [inference]

extracellular membrane-bounded organelle [inference]

extracellular vesicle [inference]

extracellular exosome

Displaying **all 4** entries
GO Term	Evidence Code	PMID
small GTPase binding	ISS
transporter activator activity	IEA
protein binding	IPI	29127204 32353859 32814053 33060197 33845483 34232536 34997207
ATPase activator activity	IBA

GO Hierarchy

molecular function

binding [inference]

protein binding

enzyme binding [inference]

GTPase binding [inference]

small GTPase binding

molecular function regulator activity [inference]

ATPase regulator activity [inference]

ATPase activator activity

molecular function activator activity [inference]

transporter regulator activity [inference]

transporter activator activity

Gene Ontology information from NCBI Gene and UniProt.

Human Protein Atlas

ENSG00000071553

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

Data available from v23.0.proteinatlas.org. Image credit: Human Protein Atlas

KEGG BRITE Database

Orthology

K03662

Name

V-type H+-transporting ATPase S1 subunit

References

8034313

Disease

Disease Ontology

Displaying entries **11 - 20** of 29 in total

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DO ID	Disease Name	Source
DOID:0070134	autosomal recessive cutis laxa type IIA	DisGeNET
DOID:0070135	autosomal recessive cutis laxa type IA	DisGeNET
DOID:0070136	autosomal dominant cutis laxa 2	DisGeNET
DOID:0070137	autosomal recessive cutis laxa type IIB	DisGeNET
DOID:0070138	autosomal recessive cutis laxa type IIIB	DisGeNET
DOID:0070140	autosomal recessive cutis laxa type IIC	DisGeNET
DOID:0070141	autosomal recessive cutis laxa type II classic type	DisGeNET
DOID:0070142	autosomal dominant cutis laxa	DisGeNET
DOID:0112002	immunodeficiency 47	Alliance of Genome Resources
DOID:13316	exocrine pancreatic insufficiency	DisGeNET

The Human Phenotype Ontology

Displaying entries **1 - 10** of 43 in total

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HPO ID	HPO Term
HP:0000348	High forehead
HP:0000407	Sensorineural hearing impairment
HP:0000540	Hypermetropia
HP:0000601	Hypotelorism
HP:0000973	Cutis laxa
HP:0001250	Seizure
HP:0001252	Hypotonia
HP:0001256	Intellectual disability, mild
HP:0001263	Global developmental delay
HP:0001382	Joint hypermobility

Displaying 1 entry
Disease ID	Disease Name
OMIM:300972	immunodeficiency 47

PubChem Disease

MedGen Diseases

Immunodeficiency 47

OMIM Phenotypes

IMMUNODEFICIENCY 47; IMD47

KEGG Diseases

Congenital disorders of glycosylation type II

Gene-Disease-Co-Occurrences-in-Literature (PubChem)

Ortholog

Displaying entries **1 - 10** of 70 in total

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Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Caenorhabditis elegans	177103	WB:WBGene00021952
Drosophila melanogaster	35944	FB:FBgn0262515
Drosophila melanogaster	318563	FB:FBgn0051030
Latimeria chalumnae	102350146		LATCH03377
Danio rerio	100004566	ZFIN:ZDB-GENE-090312-136	DANRE24074
Danio rerio	195824	ZFIN:ZDB-GENE-020423-2
Ictalurus punctatus	108276329		ICTPU08338
Electrophorus electricus	113572318		ELEEL10199
Salmo salar	106566310		SALSA25422
Gadus morhua	115548405		GADMO28811

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

All Resources

Other Information

Tools

Search Tools

Summary

External Links

Annotation

KEGG BRITE Database

PubChem Disease

International Collaboration

Acknowledgements