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Transporter Information:
Name: ATPase, H+ transporting, lysosomal accessory protein 2
Symbol: ATP6AP2
Locations: Xq21
Aliases: M8-9, APT6M8-9, ATP6M8-9
GenBank: AF248966
Swiss-Prot: O75787
Accession Number: NM_005765
Old Name: ATPase, H+ transporting, lysosomal interacting protein 2
PubMed (9556572): Ludwig J, Kerscher S, Brandt U, Pfeiffer K, Getlawi F, Apps DK, Schagger H. Identification and characterization of a novel 9.2-kDa membranesector-associated protein of vacuolar proton-ATPase from chromaffin granules.J Biol Chem. 1998 May 1;273(18):10939-47. PMID: 9556572 [PubMed - indexed for MEDLINE]

Vacuolar proton-translocating ATPase (holoATPase and free membrane sector) was isolated from bovine chromaffin granules by blue native polyacrylamide gel electrophoresis. A 5-fold excess of membrane sector over holoenzyme was determined in isolated chromaffin granule membranes. M9.2, a novel extremely hydrophobic 9.2-kDa protein comprising 80 amino acids, was detected in the membrane sector. It shows sequence and structural similarity to Vma21p, a yeast protein required for assembly of vacuolar ATPase. A second membrane sector-associated protein (M8-9) was identified and characterized by amino-terminal protein sequencing.

PubMed (11590366): Demirci FY, White NJ, Rigatti BW, Lewis KF, Gorin MB. Identification, genomic structure, and screening of the vacuolar proton-ATPasemembrane sector-associated protein M8-9 gene within the COD1 critical region(Xp11.4).Mol Vis. 2001 Oct 5;7:234-9. PMID: 11590366 [PubMed - indexed for MEDLINE]

PURPOSE: Our goal is to identify the gene responsible for X-linked cone-rod dystrophy (COD1) that has been localized to a limited region of Xp11.4. METHODS: A complete physical contig of the COD1 region was partially sequenced and subjected to BLAST searches to identify homologies with GenBank ESTs. ESTs were analyzed for overlapping or related cDNA sequences and retinal expression by PCR screening of multiple human retina cDNA libraries. RACE was performed to complete the missing 5' end of the transcripts. Transcripts were compared with genomic sequences to specify intron-exon boundaries. Genomic DNAs from COD1-affected males from 3 families were screened for mutations using direct PCR sequencing of the exons. RESULTS: The vacuolar proton-ATPase membrane sector-associated protein M8-9 (APT6M8-9) gene was identified within our critical region. We confirmed its retinal expression and its genomic location in our physical contig. Eight exons (with flanking intronic sequences) were characterized from partial cDNA sequence and genomic sequence data. An additional 5' end exon was identified using RACE. No mutations were found in the COD1-affected males. CONCLUSIONS: The combination of disease mapping and information from the Human Genome project has enabled us to identify candidate genes within the COD1 region, including APT6M8-9 gene. We found no evidence that this gene is responsible for COD1 in our families, but it may be an important candidate for other diseases that have been mapped to this region of the X chromosome.

>sp|O75787|RENR_HUMAN Renin receptor OS=Homo sapiens GN=ATP6AP2 PE=1 SV=2