ATP6AP1 - ATPase H+ transporting accessory protein 1 Gene

Also Known as 16A; CF2; Ac45; XAP3; XAP-3; ATP6S1; VATPS1; ATP6IP1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 537

About ATP6AP1

Cytogenetic location: Xq28 Genomic coordinates (GRCh38): X:154,428,677-154,436,516 (from NCBI)

This gene has 14 transcripts (splice variants), 274 orthologues and is associated with 1 phenotype. Ubiquitous expression in brain (RPKM 59.1), thyroid (RPKM 48.0) and 25 other tissues.

Summary

This gene encodes a component of a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. Vacuolar ATPase (V-ATPase) is comprised of a cytosolic V1 (site of the ATP catalytic site) and a transmembrane V0 domain. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, and receptor-mediated endocytosis. The encoded protein of this gene may assist in the V-ATPase-mediated acidification of neuroendocrine secretory granules. This protein may also play a role in early development. [provided by RefSeq, Aug 2013]

ATP6AP1 Products (1)

mRNA	Protein	Name
NM_001183.6	NP_001174.2	V-type proton ATPase subunit S1 precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	29127204	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in cellular response to increased oxygen levels	IMP IMP: Inferred from mutant phenotype	28296633	GOA
involved in intracellular iron ion homeostasis	IMP IMP: Inferred from mutant phenotype	28296633	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in membrane	IDA IDA: Inferred from direct assay	33065002	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ATP6AP1 Protein Structure

ATP-synt_S1

0
100
200
300
400
470 a.a.

Protein Preferred Names	Protein Names
V-type proton ATPase subunit S1	ATPase, H+ transporting, lysosomal (vacuolar proton pump), subunit 1

ATP6AP1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Cross	ATP6AP1	Q15904	P0DTD1-PRO_0000449624	SARS-CoV-2	P0DTD1-PRO_0000449624	Anti Tag CoIP	34997207
Cross	ATP6AP1	Q15904	P0DTD1-PRO_0000449624	SARS-CoV-2	P0DTD1-PRO_0000449624	Anti Bait CoIP	34997207

Cross: Cross-species interaction Intra: Intraspecies interaction

ATP6AP1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P84607	ATP6AP1 Antibody (YA4304)	WB, FC, ELISA	Human, Mouse
HY-P84607A	ATP6AP1 Antibody (YA4304)(PBS only)	WB, FC, ELISA	Human, Mouse

Related Diseases

Diseases	Alias
Immunodeficiency 47	Congenital Disorder Of Glycosylation Type Ii CDG2E Congenital Disorder Of Glycosylation Type Iie IMD47 Cdg2s Cdg Iis Cdgiis Immunodeficiency And Hepatopathy With Or Without Neurologic Features Congenital Disorder Of Glycosylation, Type Ii CDG1I Congenital Disorder Of Glycosylation, Type Iie Cdg Iie Congenital Disorder Of Glycosylation Type 2e Congenital Disorder Of Glycosylation, Type Iis Cdg Ii Cdgii Cdgiie Carbohydrate Deficient Glycoprotein Syndrome Type Iie Cdg Syndrome Type Iie Congenital Disorder Of Glycosylation Ii Congenital Disorder Of Glycosylation 1i Cdg-Iie Alg2-Cdg Cdg-Ii Glycosylation, Congenital Disorder Of, Type Ii Cdgiide Congenital Disorder Of Glycosylation Type Iis Cog7-Cdg Cdg Syndrome Type Ii Carbohydrate Deficient Glycoprotein Syndrome Type Ii Congenital Disorder Of Glycosylation Type 1i Mannosyltransferase 2 Deficiency Congenital Disorder Of Glycosylation 2e Congenital Disorder Of Glycosylation 2s Congenital Disorders Of Glycosylation Type Ii Glycosylation, Congenital Disorder Of, Type Iie Immunodeficiency, Type 47 Congenital Disorder Of Glycosylation Type 2a
Congenital Disorder Of Glycosylation, Type Iip	CDG2P Tmem199-Cdg Cdg Iip Congenital Disorder Of Glycosylation Type Iip Cdgiip Carbohydrate Deficient Glycoprotein Syndrome Type Iip Cdg Syndrome Type Iip Congenital Disorder Of Glycosylation Type 2p Cdg-Iip Cdgiidp Congenital Disorder Of Glycosylation 2p
Breast Granular Cell Tumor
Congenital Disorder Of Glycosylation, Type Iio	CDG2O Ccdc115-Cdg Cdg Iio Congenital Disorder Of Glycosylation Type Iio Cdgiio Carbohydrate Deficient Glycoprotein Syndrome Type Iio Cdg Syndrome Type Iio Congenital Disorder Of Glycosylation Type 2o Cdg-Iio Cdgiido Congenital Disorder Of Glycosylation 2o Glycosylation, Congenital Disorder Of, Type Iio
Myasthenic Syndrome, Congenital, 15	Congenital Myasthenic Syndrome 15 CMS15 Myasthenic Syndrome, Congenital, Without Tubular Aggregates Cmswta Myasthenic Syndrome, Congenital, 15, Without Tubular Aggregates Congenital Myasthenic Syndrome 15 Without Tubular Aggregates Myasthenic Syndrome, Congenital, Type 15, Without Tubular Aggregates
Cutis Laxa	Generalized Elastolysis Loose Skin Dermatolysis Dermatomegaly Cutis Laxa Syndrome
Bladder Leiomyoma	Leiomyoma Of The Urinary Bladder
Myasthenic Syndrome, Congenital, 9, Associated With Acetylcholine Receptor Deficiency	Congenital Myasthenic Syndrome 9 CMS9 Congenital Myasthenic Syndrome 9, Associated With Acetylcholine Receptor Deficiency Myasthenic Syndrome, Congenital, Type 9, Associated With Acetylcholine Receptor Deficiency
Neonatal Jaundice	Neonatal Hyperbilirubinemia Neonatal Icterus Jaundice Neonatal Jaundice, Neonatal Hyperbilirubinemia, Neonatal
Autosomal Recessive Cutis Laxa Type Ii Classic Type	Arcl2, Classic Type Arcl2, Debre Type Autosomal Recessive Cutis Laxa Type 2, Classic Type Autosomal Recessive Cutis Laxa Type 2, Debre Type
Fructose Intolerance, Hereditary	Hereditary Fructose Intolerance Fructose Intolerance Fructose-1-Phosphate Aldolase Deficiency Fructose-1,6-Bisphosphate Aldolase B Deficiency Aldolase B Deficiency Fructosemia Aldob Deficiency Hereditary Fructose Intolerance Syndrome HFI Fructosaemia Hereditary Fructose-1-Phosphate Aldolase Deficiency Fructose Aldolase B Deficiency Fructose-1,6-Biphosphate Aldolase Deficiency Hereditary Fructosemia Fructosemia, Hereditary Hereditary Fructosaemia Fructose-Biphosphate Aldolase B Deficiency Fructose Intolerance Of Newborn Aldb - [Aldolase B] Deficiency Deficiency Of Fructose-Bisphosphate Aldolase
Parkinsonism With Spasticity, X-Linked	X-Linked Parkinsonism-Spasticity Syndrome XPDS X-Linked Parkinsonism With Spasticity
Hypokalemia	Potassium Deficiency Potassium Deficiency Disorder Hypopotassemia Potassium Potassium [K] Deficiency Hypokalaemic Syndrome Hypopotassaemia Hypopotassaemia Syndrome Hypokalaemic Potassium Depletion
Congenital Disorder Of Glycosylation, Type In	Congenital Disorder Of Glycosylation CDG1N Congenital Disorders Of Glycosylation Cdg In Cdgin Congenital Disorder Of Glycosylation 1n Carbohydrate-Deficient Glycoprotein Syndrome Cdg Rft1-Cdg Cdg-In Congenital Disorder Of Glycosylation Type In Carbohydrate Deficient Glycoprotein Syndrome Cdg Syndrome Congenital Disorder Of Glycosylation In Carbohydrate-Deficient Glycoprotein Syndromes Cdg Syndrome Type In Carbohydrate Deficient Glycoprotein Syndrome Type In Congenital Disorder Of Glycosylation Type 1n Man5glcnac2-Pp-Dol Flippase Deficiency Glycosylation, Congenital Disorder Of Glycosylation, Congenital Disorder Of, Type In
Frontotemporal Dementia	Pallidopontonigral Degeneration Frontotemporal Lobar Degeneration Semantic Dementia FTD Frontotemporal Lobe Dementia Multiple System Tauopathy With Presenile Dementia Dementia, Frontotemporal Frontotemporal Dementia With Parkinsonism Mstd Frontotemporal Lobar Degeneration With Tau Inclusions Ftld With Tau Inclusions Dementia, Frontotemporal, With Parkinsonism Fldem Ftdp17 Disinhibition-Dementia-Parkinsonism-Amyotrophy Complex Ddpac Wilhelmsen-Lynch Disease Wld Ppnd Dementia, Frontotemporal, With Or Without Parkinsonism Semantic Primary Progressive Aphasia Semantic Variant Ppa Wilhemsen-Lynch Disease Frontotemporal Dementia-Amyotrophic Lateral Sclerosis Frontotemporal Dementia And Parkinsonism Linked To Chromosome 17 Ftd-Als Ftld Pick Complex Pick Disease Of The Brain Frontotemporal Dementia With Parkinsonism-17 Grn-Related Frontotemporal Dementia Frontotemporal Dementia With Motor Neuron Disease Dementia In Fronto-Temporal Lobar Degeneration Ftd - [Frontotemporal Dementia] Temple Dementia Frontal Lobe Dementia

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS01214	ATP6AP1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	ATP6AP1	VGNC	VGNC:38266
Rattus norvegicus	ATP6AP1	RGD	RGD:620423
Mus musculus	ATP6AP1	MGD	MGI:109629
Felis catus	ATP6AP1	VGNC	VGNC:68720
Macaca mulatta	ATP6AP1	VGNC	VGNC:70190
Bos taurus	ATP6AP1	VGNC	VGNC:26306
Others	ATP6AP1	NCBI