ATP6AP1 (ATPase H+ transporting accessory protein 1)

2004-06-01  

Identity

HGNC
LOCATION
Xq28
LOCUSID
ALIAS
16A,ATP6IP1,ATP6S1,Ac45,CF2,VATPS1,XAP-3,XAP3
FUSION GENES

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

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

References

Pubmed IDYearTitleCitations
192465702009Exploring the human genome with functional maps.108
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
257133632015Mutations in early follicular lymphoma progenitors are associated with suppressed antigen presentation.83
272310342016ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation.27
301665532018Loss-of-function mutations in ATP6AP1 and ATP6AP2 in granular cell tumors.13
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.11
291921532018Expanding the phenotype of metabolic cutis laxa with an additional disorder of N-linked protein glycosylation.2

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/atp6ap1-(atpase-h+-transporting-accessory-protein-1)