2. Gene
  3. ATP6V0A1 - ATPase H+ transporting V0 subunit a1 Gene

ATP6V0A1 - ATPase H+ transporting V0 subunit a1 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as a1; Stv1; VPP1; Vph1; ATP6N1; DEE104; NEDEBA; ATP6N1A

Gene ID: 535 | Gene type: protein coding

About ATP6V0A1

Cytogenetic location: 17q21.2 Genomic coordinates (GRCh38): 17:42,458,878-42,522,579 (from NCBI)

This gene has 40 transcripts (splice variants), 278 orthologues, 3 paralogues and is associated with 1 phenotype. Ubiquitous expression in brain (RPKM 46.5), kidney (RPKM 12.3) and 23 other tissues.

Summary

This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit Enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c", and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This gene encodes one of three A subunit proteins and the encoded protein is associated with clathrin-coated vesicles. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

ATP6V0A1 Products(31)

mRNA Protein Name
NM_001130020.3 NP_001123492.1 V-type proton ATPase 116 kDa subunit a 1 isoform 2
NM_001130021.3 NP_001123493.1 V-type proton ATPase 116 kDa subunit a 1 isoform 1
NM_001378522.1 NP_001365451.1 V-type proton ATPase 116 kDa subunit a 1 isoform 4
NM_001378523.1 NP_001365452.1 V-type proton ATPase 116 kDa subunit a 1 isoform 5
NM_001378530.1 NP_001365459.1 V-type proton ATPase 116 kDa subunit a 1 isoform 6
NM_001378531.1 NP_001365460.1 V-type proton ATPase 116 kDa subunit a 1 isoform 7
NM_001378532.1 NP_001365461.1 V-type proton ATPase 116 kDa subunit a 1 isoform 8
NM_001378533.1 NP_001365462.1 V-type proton ATPase 116 kDa subunit a 1 isoform 9
NM_001378534.1 NP_001365463.1 V-type proton ATPase 116 kDa subunit a 1 isoform 10
NM_001378535.1 NP_001365464.1 V-type proton ATPase 116 kDa subunit a 1 isoform 11
NM_001378536.1 NP_001365465.1 V-type proton ATPase 116 kDa subunit a 1 isoform 12
NM_001378537.1 NP_001365466.1 V-type proton ATPase 116 kDa subunit a 1 isoform 13
NM_001378538.1 NP_001365467.1 V-type proton ATPase 116 kDa subunit a 1 isoform 14
NM_001378539.1 NP_001365468.1 V-type proton ATPase 116 kDa subunit a 1 isoform 15
NM_001378540.1 NP_001365469.1 V-type proton ATPase 116 kDa subunit a 1 isoform 16
NM_001378541.1 NP_001365470.1 V-type proton ATPase 116 kDa subunit a 1 isoform 17
NM_001378542.1 NP_001365471.1 V-type proton ATPase 116 kDa subunit a 1 isoform 18
NM_001378543.1 NP_001365472.1 V-type proton ATPase 116 kDa subunit a 1 isoform 19
NM_001378544.1 NP_001365473.1 V-type proton ATPase 116 kDa subunit a 1 isoform 20
NM_001378545.1 NP_001365474.1 V-type proton ATPase 116 kDa subunit a 1 isoform 21
NM_001378546.1 NP_001365475.1 V-type proton ATPase 116 kDa subunit a 1 isoform 22
NM_001378547.1 NP_001365476.1 V-type proton ATPase 116 kDa subunit a 1 isoform 23
NM_001378548.1 NP_001365477.1 V-type proton ATPase 116 kDa subunit a 1 isoform 24
NM_001378549.1 NP_001365478.1 V-type proton ATPase 116 kDa subunit a 1 isoform 25
NM_001378550.1 NP_001365479.1 V-type proton ATPase 116 kDa subunit a 1 isoform 26
NM_001378551.1 NP_001365480.1 V-type proton ATPase 116 kDa subunit a 1 isoform 27
NM_001378552.1 NP_001365481.1 V-type proton ATPase 116 kDa subunit a 1 isoform 28
NM_001378554.1 NP_001365483.1 V-type proton ATPase 116 kDa subunit a 1 isoform 29
NM_001378556.1 NP_001365485.1 V-type proton ATPase 116 kDa subunit a 1 isoform 30
NM_001378557.1 NP_001365486.1 V-type proton ATPase 116 kDa subunit a 1 isoform 31
NM_005177.5 NP_005168.2 V-type proton ATPase 116 kDa subunit a 1 isoform 3
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables ATPase binding IPI
IPI: Inferred from physical interaction
17360703 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
7896830 GOA
Biological Process GO Annotation Evidence Reference Source
involved in regulation of macroautophagy IMP
IMP: Inferred from mutant phenotype
22982048 GOA
Cellular Component GO Annotation Evidence Reference Source
located in membrane IDA
IDA: Inferred from direct assay
33065002 GOA
located in plasma membrane IDA
IDA: Inferred from direct assay
17360703 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

ATP6V0A1 Protein Structure

V_ATPase_I

V_ATPase_I: V-type ATPase 116kDa subunit family (26 - 828)

  • 0
  • 200
  • 400
  • 600
  • 837 a.a.
Protein Preferred Names Protein Names

V-type proton ATPase 116 kDa subunit a 1

ATPase, H+ transporting, lysosomal V0 subunit a1

Related Diseases

Diseases Alias
Developmental And Epileptic Encephalopathy 104

DEE104
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy

NEDEBA
Aceruloplasminemia

Cerebellar Ataxia

Hypoceruloplasminemia

Hemosiderosis, Systemic, Due To Aceruloplasminemia

Familial Apoceruloplasmin Deficiency

Hereditary Ceruloplasmin Deficiency

Deficiency Of Ferroxidase

Hypoceruloplasminemia, Hereditary

Ceruloplasmin Deficiency

Systemic Hemosiderosis Due To Aceruloplasminemia

ACERULOP
Autism

Autistic Disorder

Autism Susceptibility 1

Childhood Autism

Autistic Disorder Of Childhood Onset

Infantile Autism

Kanner'S Syndrome

Autistic
Hypotonia
Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly
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 (3)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-162678 HDAC-IN-75 Inhibitor / Unkown
HY-RS01216 ATP6V0A1 Human Pre-designed siRNA Set A Pre-designed Sets / Unkown
HY-RS01221 ATP6V0D1 Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source ID
Macaca mulatta ATP6V0A1 VGNC VGNC:70188
Felis catus ATP6V0A1 VGNC VGNC:68712
Mus musculus ATP6V0A1 MGD MGI:103286
Bos taurus ATP6V0A1 VGNC VGNC:26307
Rattus norvegicus ATP6V0A1 RGD RGD:68405
Canis familiaris ATP6V0A1 VGNC VGNC:38268