ATP6AP2
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| ATPase, H+ transporting, lysosomal accessory protein 2
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| Identifiers | ||||||||||||||
| Symbol(s) | ATP6AP2; APT6M8-9; ATP6IP2; ATP6M8-9; ELDF10; HT028; M8-9; MGC99577; MRXE; MSTP009; XMRE | |||||||||||||
| External IDs | OMIM: 300556 MGI: 1917745 Homologene: 38097 | |||||||||||||
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| RNA expression pattern | ||||||||||||||
| Image:PBB GE ATP6AP2 201443 s at tn.png | ||||||||||||||
| Orthologs | ||||||||||||||
| Human | Mouse | |||||||||||||
| Entrez | 10159 | 70495 | ||||||||||||
| Ensembl | ENSG00000182220 | ENSMUSG00000031007 | ||||||||||||
| Uniprot | O75787 | Q1XID4 | ||||||||||||
| Refseq | NM_005765 (mRNA) NP_005756 (protein) | NM_027439 (mRNA) NP_081715 (protein) | ||||||||||||
| Location | Chr X: 40.33 - 40.35 Mb | Chr X: 11.74 - 11.77 Mb | ||||||||||||
| Pubmed search | [1] | [2] | ||||||||||||
ATPase, H+ transporting, lysosomal accessory protein 2, also known as ATP6AP2, is a human gene.[1]
This gene encodes a protein that is associated with adenosine triphosphatases (ATPases). Proton-translocating ATPases have fundamental roles in energy conservation, secondary active transport, acidification of intracellular compartments, and cellular pH homeostasis. There are three classes of ATPases- F, P, and V. The vacuolar (V-type) ATPases have a transmembrane proton-conducting sector and an extramembrane catalytic sector. The encoded protein has been found associated with the transmembrane sector of the V-type ATPases.[1]
References
Further reading
- Kaneshiro Y, Ichihara A, Sakoda M, et al. (2007). "Slowly progressive, angiotensin II-independent glomerulosclerosis in human (pro)renin receptor-transgenic rats.". J. Am. Soc. Nephrol. 18 (6): 1789-95. doi:10.1681/ASN.2006091062. PMID 17494887.
- Schefe JH, Menk M, Reinemund J, et al. (2007). "A novel signal transduction cascade involving direct physical interaction of the renin/prorenin receptor with the transcription factor promyelocytic zinc finger protein.". Circ. Res. 99 (12): 1355-66. doi:10.1161/01.RES.0000251700.00994.0d. PMID 17082479.
- Kaneshiro Y, Ichihara A, Takemitsu T, et al. (2006). "Increased expression of cyclooxygenase-2 in the renal cortex of human prorenin receptor gene-transgenic rats.". Kidney Int. 70 (4): 641-6. doi:10.1038/sj.ki.5001627. PMID 16807542.
- Burcklé CA, Jan Danser AH, Müller DN, et al. (2006). "Elevated blood pressure and heart rate in human renin receptor transgenic rats.". Hypertension 47 (3): 552-6. doi:10.1161/01.HYP.0000199912.47657.04. PMID 16401765.
- Huang Y, Wongamorntham S, Kasting J, et al. (2006). "Renin increases mesangial cell transforming growth factor-beta1 and matrix proteins through receptor-mediated, angiotensin II-independent mechanisms.". Kidney Int. 69 (1): 105-13. doi:10.1038/sj.ki.5000011. PMID 16374430.
- Otsuki T, Ota T, Nishikawa T, et al. (2007). "Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries.". DNA Res. 12 (2): 117-26. doi:10.1093/dnares/12.2.117. PMID 16303743.
- Ramser J, Abidi FE, Burckle CA, et al. (2005). "A unique exonic splice enhancer mutation in a family with X-linked mental retardation and epilepsy points to a novel role of the renin receptor.". Hum. Mol. Genet. 14 (8): 1019-27. doi:10.1093/hmg/ddi094. PMID 15746149.
- Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121-7. doi:10.1101/gr.2596504. PMID 15489334.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899-903. doi:10.1073/pnas.242603899. PMID 12477932.
- Nguyen G, Delarue F, Burcklé C, et al. (2002). "Pivotal role of the renin/prorenin receptor in angiotensin II production and cellular responses to renin.". J. Clin. Invest. 109 (11): 1417-27. PMID 12045255.
- Hedera P, Alvarado D, Beydoun A, Fink JK (2002). "Novel mental retardation-epilepsy syndrome linked to Xp21.1-p11.4.". Ann. Neurol. 51 (1): 45-50. PMID 11782983.
- Demirci FY, White NJ, Rigatti BW, et al. (2001). "Identification, genomic structure, and screening of the vacuolar proton-ATPase membrane sector-associated protein M8-9 gene within the COD1 critical region (Xp11.4).". Mol. Vis. 7: 234-9. PMID 11590366.
- Hu RM, Han ZG, Song HD, et al. (2000). "Gene expression profiling in the human hypothalamus-pituitary-adrenal axis and full-length cDNA cloning.". Proc. Natl. Acad. Sci. U.S.A. 97 (17): 9543-8. doi:10.1073/pnas.160270997. PMID 10931946.
- Ludwig J, Kerscher S, Brandt U, et al. (1998). "Identification and characterization of a novel 9.2-kDa membrane sector-associated protein of vacuolar proton-ATPase from chromaffin granules.". J. Biol. Chem. 273 (18): 10939-47. PMID 9556572.
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Acknowledgement and Attribution Regarding Sources of Content
Some of the initial content on this page may be incorporated in part from copyleft sources in the public domain including wikis such as Wikipedia and AskDrWiki. Drug information for patients came from the The National Library of Medicine. Infectious disease information may have come from the Centers for Disease Control (CDC). Differential Diagnoses are drawn from clinicians as well as an amalgamation of 3 sources: 1.The Disease Database; 2. Kahan, Scott, Smith, Ellen G. In A Page: Signs and Symptoms. Malden, Massachusetts: Blackwell Publishing, 2004:3; 3. Sailer, Christian, Wasner, Susanne. Differential Diagnosis Pocket. Hermosa Beach, CA: Borm Bruckmeir Publishing LLC, 2002:7 .
