Alt. symbols: ATP6S1 | ATP6IP1 | ORF | XAP-3 | VATPS1 | 16A | Ac45 | XAP3 | CF2

Approved name: ATPase H+ transporting accessory protein 1
Alt. names: ATPase, H+ transporting, lysosomal (vacuolar proton pump), subunit 1, ATPase, H+ transporting, lysosomal accessory protein 1

Location: Xq28: 154428633 - 154436516 (+)
Gene type: protein_coding, 14 transcripts.

Scores: LoFtool: 0.034200 | pLI: 0.82763366 | LOEUF: 0.213

HGNC: 868

NCBI: 537, RefSeq: NG_052807.1

Ensembl: ENSG00000071553.18

LRG_ | Status: none

OMIM: 300197

Expression | ProteinAtlas

The gene encodes the accessory subunit of the V-type proton ATPase, a multisubunit protein complex that is required for acidification of intracellular organelles and that is also involved in membrane trafficking and calcium-dependent membrane fusion. V-type ATPase dependent organelle acidification is required for intracellular processes like protein sorting, zymogen activation and receptor-mediated endocytosis. The accessory subunit ATP6AP1 assists in the V-type ATPase-mediated acidification of neuroendocrine regulated secretory granules by guiding it into specialized subcellular compartments. ATP6AP1 is ubiquitously expressed, being mostly represented in brain, neuroendocrine, gastrointestinal, liver, connective and lymphoid tissues. In B-cells, it is reported to be involved in protein glycosylation, membrane trafficking and fusion events required for B-cells differentiation, antigen processing and antibody production.

Mutations in ATP6AP1 are linked to Immunodeficiency 47 [MIM:300972], which is an inherited X-linked recessive condition. This complex syndrome is associated with an immunodeficiency phenotype including recurrent bacterial infections and hypogammaglobulinemia, as well as liver dysfunction and defective glycosylation of serum proteins. In some patients, neurocognitive abnormalities are observed. The disease is caused by mutations in ATP6AP1 and up to date, only males carrying hemizygous mutations are described as affected (p.Leu74Pro, p.Leu144Pro, p.Leu181Arg, p.Tyr217Asn, p.Leu311Gln, p.Tyr313Cys, p.Glu346Lys and p.Met428Ile, p.Tyr77del, p.Arg9*,p.Pro134Leu, p.Ser98Arg). Due to the inheritance pattern, female mutation carriers are healthy and no homozygous affected females have been described to date. [Load More]