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 21 - 30 of 111 in total
DO ID Disease Name Source
DOID:0070140 autosomal recessive cutis laxa type IIC
DOID:0070141 autosomal recessive cutis laxa type II classic type
DOID:0080199 colorectal carcinoma
DOID:0080326 familial hypertrophic cardiomyopathy
DOID:0090130 cortical dysplasia-focal epilepsy syndrome
DOID:0090132 complex cortical dysplasia with other brain malformations 7
DOID:0090137 complex cortical dysplasia with other brain malformations 1
DOID:0110096 short-rib thoracic dysplasia 14 with polydactyly
DOID:0110106 atrial heart septal defect 1
DOID:0110107 atrial heart septal defect 2
The Human Phenotype Ontology
Displaying entries 11 - 20 of 143 in total
HPO ID HPO Term
HP:0000307 Pointed chin
HP:0000316 Hypertelorism
HP:0000319 Smooth philtrum
HP:0000325 Triangular face
HP:0000343 Long philtrum
HP:0000348 High forehead
HP:0000369 Low-set ears
HP:0000400 Macrotia
HP:0000411 Protruding ear
HP:0000414 Bulbous nose
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