ATPase H+ transporting V1 subunit A

Summary
Gene Symbol
  • ATP6V1A
Aliases
  • V-ATPase subunit A
  • V-type proton ATPase (V-ATPase) catalytic subunit A
  • VA68
  • Vma1
Organism
Homo sapiens (human)
External Links
NCBI Gene
523
HGNC
851
KEGG Gene ID
hsa:523
PubChem
523
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • ATP-binding
  • Acetylation
  • Alternative splicing
  • Cytoplasm
  • Cytoplasmic vesicle
  • Disease variant
  • Epilepsy
  • Hydrogen ion transport
  • Lysosome
  • Membrane
  • Phosphoprotein
  • Reference proteome
  • Translocase
Proteins
Displaying 1 entry
UniProt Protein Name
P38606
  • V-ATPase 69 kDa subunit
  • Vacuolar ATPase isoform VA68
  • Vacuolar proton pump subunit alpha
Gene Ontology (GO)
GO Hierarchy
GO Hierarchy
GO Hierarchy
Human Protein Atlas
ENSG00000114573

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
K02145
Name
V-type H+-transporting ATPase subunit A [EC:7.1.2.2]
References
Disease
Disease Ontology
Displaying entries 1 - 10 of 111 in total
DO ID Disease Name Source
DOID:4090 agnosia
DOID:0050133 superficial mycosis
DOID:0050453 lissencephaly
DOID:0050591 tooth agenesis
DOID:0050700 cardiomyopathy
DOID:0050777 Joubert syndrome
DOID:0050841 focal hand dystonia
DOID:0060260 ptosis
DOID:0060261 congenital ptosis
DOID:0060270 pontocerebellar hypoplasia type 2D
The Human Phenotype Ontology
Displaying entries 1 - 10 of 143 in total
HPO ID HPO Term
HP:0000006 Autosomal dominant inheritance
HP:0000007 Autosomal recessive inheritance
HP:0000023 Inguinal hernia
HP:0000054 Micropenis
HP:0000218 High palate
HP:0000252 Microcephaly
HP:0000253 Progressive microcephaly
HP:0000272 Malar flattening
HP:0000278 Retrognathia
HP:0000298 Mask-like facies
Displaying all 4 entries
Disease ID Disease Name
OMIM:618012
  • epileptic encephalopathy, infantile or early childhood, 3
ORPHA:357074
  • autosomal recessive cutis laxa type 2, classic type
ORPHA:442835
  • developmental and epileptic encephalopathy, 58
  • developmental delay and seizures with or without movement abnormalities
  • intellectual disability, X-linked, syndromic, Houge type
  • intellectual disability, autosomal dominant 55, with seizures
  • intellectual disability, autosomal dominant 56
  • undetermined early-onset epileptic encephalopathy
OMIM:617403
  • autosomal recessive cutis laxa type 2D

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Last updated: August 19, 2024