ATP6AP1 (ATPase H+ transporting accessory protein 1)

2004-06-01  

Identity

HGNC
ATP6AP1
LOCATION
Xq28
LOCUSID
537
ALIAS
16A,ATP6IP1,ATP6S1,Ac45,CF2,VATPS1,XAP-3,XAP3
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 537
MIM: 300197
HGNC: 868
Ensembl: ENSG00000071553

Variants:

dbSNP: 537
ClinVar: 537
TCGA: ENSG00000071553
COSMIC: ATP6AP1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000071553ENST00000369762Q15904
ENSG00000071553ENST00000369762A0A384MQW4
ENSG00000071553ENST00000422890A6NLC6
ENSG00000071553ENST00000429585H7C2Y8
ENSG00000071553ENST00000439372F2Z3L8
ENSG00000071553ENST00000446552F2Z3L8
ENSG00000071553ENST00000449556A6QRJ1
ENSG00000071553ENST00000455205H7C0T7
ENSG00000071553ENST00000619046A0A0C4DGX8

Expression (GTEx)

0
50
100
150
200
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
Vibrio cholerae infectionKEGGko05110
Epithelial cell signaling in Helicobacter pylori infectionKEGGko05120
Oxidative phosphorylationKEGGhsa00190
Vibrio cholerae infectionKEGGhsa05110
Epithelial cell signaling in Helicobacter pylori infectionKEGGhsa05120
LysosomeKEGGko04142
LysosomeKEGGhsa04142
Metabolic pathwaysKEGGhsa01100
PhagosomeKEGGko04145
PhagosomeKEGGhsa04145
Rheumatoid arthritisKEGGko05323
Rheumatoid arthritisKEGGhsa05323
TuberculosisKEGGko05152
TuberculosisKEGGhsa05152
V-type ATPase, eukaryotesKEGGhsa_M00160
V-type ATPase, eukaryotesKEGGM00160
Hepatitis BKEGGhsa05161
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
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
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
383696342024ATP6AP1 as a potential prognostic biomarker in CRC by comprehensive analysis and verification.0
388784982024Genome and RNA sequencing were essential to reveal cryptic intronic variants associated to defective ATP6AP1 mRNA processing.0
383696342024ATP6AP1 as a potential prognostic biomarker in CRC by comprehensive analysis and verification.0
388784982024Genome and RNA sequencing were essential to reveal cryptic intronic variants associated to defective ATP6AP1 mRNA processing.0
349972072022SARS-CoV-2 non-structural protein 6 triggers NLRP3-dependent pyroptosis by targeting ATP6AP1.88
357324972022Expanding the phenotype of ATP6AP1 deficiency.3
349972072022SARS-CoV-2 non-structural protein 6 triggers NLRP3-dependent pyroptosis by targeting ATP6AP1.88
357324972022Expanding the phenotype of ATP6AP1 deficiency.3
342286372021Prognostic and immunological value of ATP6AP1 in breast cancer: implications for SARS-CoV-2.7
342286372021Prognostic and immunological value of ATP6AP1 in breast cancer: implications for SARS-CoV-2.7
320580632020Prenatal and postnatal phenotype of a pathologic variant in the ATP6AP1 gene.10
322161042020Severe phenotype of ATP6AP1-CDG in two siblings with a novel mutation leading to a differential tissue-specific ATP6AP1 protein pattern, cellular oxidative stress and hepatic copper accumulation.0
320580632020Prenatal and postnatal phenotype of a pathologic variant in the ATP6AP1 gene.10
322161042020Severe phenotype of ATP6AP1-CDG in two siblings with a novel mutation leading to a differential tissue-specific ATP6AP1 protein pattern, cellular oxidative stress and hepatic copper accumulation.0
291921532018Expanding the phenotype of metabolic cutis laxa with an additional disorder of N-linked protein glycosylation.10

Citation

Dessen P

ATP6AP1 (ATPase H+ transporting accessory protein 1)

Atlas Genet Cytogenet Oncol Haematol. 2004-06-01

Online version: http://atlasgeneticsoncology.org/gene/42905