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
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
Gene Ontology (GO)
GO Hierarchy
GO Hierarchy
Human Protein Atlas
ENSG00000071553

soft tissue soft tissue blood blood blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node kidney kidney adrenal gland adrenal gland breast breast duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland nasopharynx nasopharynx tongue tonsil tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder ductus deferens ductus deferens seminal vesicle seminal vesicle seminal vesicle seminal vesicle testis testis epididymis epididymis brain smooth muscle urinary bladder prostate bone marrow skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus cartilage sole of foot sole of foot soft tissue blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lactating breast lactating breast kidney kidney adrenal gland adrenal gland duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland salivary gland salivary gland salivary gland salivary gland salivary gland nasopharynx tongue tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder brain skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus smooth muscle urinary bladder vagina ovary ovary fallopian tube fallopian tube endometrium placenta cervix cervix bone marrow cartilage sole of foot sole of foot olfactory region cerebral cortex cerebellum medulla pons midbrain pituitary gland hypothalamus amygdala thalamus choroid plexus choroid plexus corpus callosum basal ganglia substantia nigra dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe caudate hippocampus retina retina

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

KEGG BRITE Database
Orthology
K03662
Name
V-type H+-transporting ATPase S1 subunit
References
Disease
Disease Ontology
Displaying entries 1 - 10 of 29 in total
DO ID Disease Name Source
DOID:0050429 Hailey-Hailey disease
DOID:0050873 follicular lymphoma
DOID:0060262 gallbladder disease
DOID:0060762 restrictive dermopathy
DOID:0060862 mal de Meleda
DOID:0070129 autosomal recessive cutis laxa type IID
DOID:0070130 autosomal dominant cutis laxa 1
DOID:0070131 autosomal dominant cutis laxa 3
DOID:0070132 autosomal recessive cutis laxa type IIIA
DOID:0070133 autosomal recessive cutis laxa type IB
The Human Phenotype Ontology
Displaying entries 1 - 10 of 43 in total
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

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024