ATP6AP1 - ATPase H+ transporting accessory protein 1 Gene

Homo sapiens

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

Gene ID: 537 | Gene type: protein coding

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

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

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

Bioactive Molecules (1)

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

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