ATP6V1A (ATPase H+ transporting V1 subunit A)

2016-03-01  

Identity

HGNC
ATP6V1A
LOCATION
3q13.31
LOCUSID
523
ALIAS
ARCL2D,ATP6A1,ATP6V1A1,DEE93,HO68,IECEE3,VA68,VPP2,Vma1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 523
MIM: 607027
HGNC: 851
Ensembl: ENSG00000114573

Variants:

dbSNP: 523
ClinVar: 523
TCGA: ENSG00000114573
COSMIC: ATP6V1A

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000114573ENST00000273398P38606
ENSG00000114573ENST00000470455F8WDJ3
ENSG00000114573ENST00000475322C9JVW8
ENSG00000114573ENST00000496747C9JA17

Expression (GTEx)

0
50
100
150
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Oxidative phosphorylationKEGGko00190
mTOR signaling pathwayKEGGko04150
Vibrio cholerae infectionKEGGko05110
Epithelial cell signaling in Helicobacter pylori infectionKEGGko05120
Oxidative phosphorylationKEGGhsa00190
mTOR signaling pathwayKEGGhsa04150
Vibrio cholerae infectionKEGGhsa05110
Epithelial cell signaling in Helicobacter pylori infectionKEGGhsa05120
Metabolic pathwaysKEGGhsa01100
Collecting duct acid secretionKEGGko04966
Collecting duct acid secretionKEGGhsa04966
PhagosomeKEGGko04145
PhagosomeKEGGhsa04145
Rheumatoid arthritisKEGGko05323
Rheumatoid arthritisKEGGhsa05323
Synaptic vesicle cycleKEGGko04721
Synaptic vesicle cycleKEGGhsa04721
V-type ATPase, eukaryotesKEGGhsa_M00160
V-type ATPase, eukaryotesKEGGM00160
ROS, RNS production in phagocytesREACTOMER-HSA-1222556
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
Signal TransductionREACTOMER-HSA-162582
Signaling by Insulin receptorREACTOMER-HSA-74752
Insulin receptor recyclingREACTOMER-HSA-77387
Transmembrane transport of small moleculesREACTOMER-HSA-382551
Iron uptake and transportREACTOMER-HSA-917937
Transferrin endocytosis and recyclingREACTOMER-HSA-917977
Ion channel transportREACTOMER-HSA-983712

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
375744262024ATP6V1A variants are associated with childhood epilepsy with favorable outcome.0
375744262024ATP6V1A variants are associated with childhood epilepsy with favorable outcome.0
367483352023Hypoxia promotes EV secretion by impairing lysosomal homeostasis in HNSCC through negative regulation of ATP6V1A by HIF-1α.9
367483352023Hypoxia promotes EV secretion by impairing lysosomal homeostasis in HNSCC through negative regulation of ATP6V1A by HIF-1α.9
356755102022Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis.6
356755102022Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis.6
333203772021Expanding the clinical and molecular spectrum of ATP6V1A related metabolic cutis laxa.5
333203772021Expanding the clinical and molecular spectrum of ATP6V1A related metabolic cutis laxa.5
296688572018De novo mutations of the ATP6V1A gene cause developmental encephalopathy with epilepsy.33
296688572018De novo mutations of the ATP6V1A gene cause developmental encephalopathy with epilepsy.33
280654712017Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa.38
285928802017Expression and Transcriptional Regulation of Human ATP6V1A Gene in Gastric Cancers.8
280654712017Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa.38
285928802017Expression and Transcriptional Regulation of Human ATP6V1A Gene in Gastric Cancers.8
256529052015Expression and role of V1A subunit of V-ATPases in gastric cancer cells.20

Citation

Dessen P

ATP6V1A (ATPase H+ transporting V1 subunit A)

Atlas Genet Cytogenet Oncol Haematol. 2016-03-01

Online version: http://atlasgeneticsoncology.org/gene/55677/gene-fusions-explorer/favicon/js/lib/all.min.js