ACP2 (original) (raw)

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Protein-coding gene in humans

ACP2
Identifiers
Aliases	ACP2, acid phosphatase 2, lysosomal, LAP
External IDs	OMIM: 171650; MGI: 87882; HomoloGene: 1217; GeneCards: ACP2; OMA:ACP2 - orthologs
Gene location (Human)Chr.Chromosome 11 (human)[1]Band11p11.2|11p12-p11Start47,239,302 bp[1]End47,248,906 bp[1]
Gene location (Mouse)Chr.Chromosome 2 (mouse)[2]Band2 E1|2 50.54 cMStart91,033,230 bp[2]End91,044,443 bp[2]
RNA expression patternBgeeHuman Mouse (ortholog)Top expressed inright lobe of liverbody of pancreasright adrenal glandleft adrenal glandright adrenal cortexstromal cell of endometriumjejunal mucosaleft adrenal cortexmucosa of transverse colonsalivary glandTop expressed inspermatocytemedial dorsal nucleusstroma of bone marrowspermatiddentate gyrus of hippocampal formation granule cellchoroid plexus of fourth ventriclemedial geniculate nucleusascending aortaaortic valvegenital tubercleMore reference expression dataBioGPSMore reference expression data
Gene ontologyMolecular function hydrolase activity acid phosphatase activity Cellular component integral component of membrane lysosomal membrane lysosome lysosomal lumen extracellular exosome membrane Biological process skeletal system development lysosome organization dephosphorylation Sources:Amigo / QuickGO
OrthologsSpeciesHuman MouseEntrez5311432EnsemblENSG00000134575ENSMUSG00000002103UniProtP11117P24638RefSeq (mRNA)NM_001131064NM_001302489NM_001302490NM_001302491NM_001302492NM_001610NM_001357016NM_007387NM_001357067RefSeq (protein)NP_001289418NP_001289419NP_001289420NP_001289421NP_001601NP_001343945NP_031413NP_001343996Location (UCSC)Chr 11: 47.24 – 47.25 MbChr 2: 91.03 – 91.04 MbPubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Lysosomal acid phosphatase is an enzyme that in humans is encoded by the ACP2 gene.[5][6]

Lysosomal acid phosphatase is composed of two subunits, alpha and beta, and is chemically and genetically distinct from red cell acid phosphatase. Lysosomal acid phosphatase 2 is a member of a family of distinct isoenzymes which hydrolyze orthophosphoric monoesters to alcohol and phosphate. Acid phosphatase deficiency is caused by mutations in the ACP2 (beta subunit) and ACP3 (alpha subunit) genes.[6]

1. ^ a b c GRCh38: Ensembl release 89: ENSG00000134575 – Ensembl, May 2017
2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000002103 – Ensembl, May 2017
3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. ^ Shows TB, Brown JA, Lalley PA (Dec 1976). "Assignment and linear order of human acid phosphatase-2, esterase A4, and lactate dehydrogenase A genes on chromosome 11". Cytogenet Cell Genet. 16 (1–5): 231–4. doi:10.1159/000130598. PMID 975882.
6. ^ a b "Entrez Gene: ACP2 acid phosphatase 2, lysosomal".

• Moss DW, Raymond FD, Wile DB (1995). "Clinical and biological aspects of acid phosphatase". Critical Reviews in Clinical Laboratory Sciences. 32 (4): 431–67. doi:10.3109/10408369509084690. PMID 7576159.

• Gierek T, Lisiewicz T, Pilch J (1977). "Intracellular enzymatic response of lymphocytes and neutrophils in patients with cancer of the larynx". Folia Haematol. Int. Mag. Klin. Morphol. Blutforsch. 104 (2): 208–15. PMID 69583.

• Jones C, Kao FT (1979). "Regional mapping of the gene for human lysosomal acid phosphatase (ACP2) using a hybrid clone panel containing segments of human chromosome 11". Hum. Genet. 45 (1): 1–10. doi:10.1007/BF00277567. PMID 730175. S2CID 21173503.

• Geier C, von Figura K, Pohlmann R (1989). "Structure of the human lysosomal acid phosphatase gene". Eur. J. Biochem. 183 (3): 611–6. doi:10.1111/j.1432-1033.1989.tb21090.x. PMID 2776754.

• Lemansky P, Gieselmann V, Hasilik A, von Figura K (1985). "Synthesis and transport of lysosomal acid phosphatase in normal and I-cell fibroblasts". J. Biol. Chem. 260 (15): 9023–30. doi:10.1016/S0021-9258(17)39452-8. PMID 3160696.

• Pohlmann R, Krentler C, Schmidt B, et al. (1989). "Human lysosomal acid phosphatase: cloning, expression and chromosomal assignment". EMBO J. 7 (8): 2343–50. doi:10.1002/j.1460-2075.1988.tb03078.x. PMC 457099. PMID 3191910.

• Waheed A, Van Etten RL (1985). "Biosynthesis and processing of lysosomal acid phosphatase in cultured human cells". Arch. Biochem. Biophys. 243 (1): 274–83. doi:10.1016/0003-9861(85)90796-9. PMID 3904632.

• Nadler HL, Egan TJ (1970). "Deficiency of lysosomal acid phosphatase. A new familial metabolic disorder". N. Engl. J. Med. 282 (6): 302–7. doi:10.1056/NEJM197002052820604. PMID 5410815.

• Bass DA, Lewis JC, Szejda P, et al. (1981). "Activation of lysosomal acid phosphatase of eosinophil leukocytes". Lab. Invest. 44 (5): 403–9. PMID 6164873.

• Chappard D, Alexandre C, Riffat G (1983). "Histochemical identification of osteoclasts. Review of current methods and reappraisal of a simple procedure for routine diagnosis on undecalcified human iliac bone biopsies". Basic and Applied Histochemistry. 27 (2): 75–85. PMID 6193776.

• Moszczyński P, Lisiewicz J (1984). "Beta-glucuronidase of lymphocytes in ontogenetic development of man". Arch. Immunol. Ther. Exp. (Warsz.). 31 (2): 171–6. PMID 6651479.

• Radzun HJ, Parwaresch MR (1981). "Isoelectric focusing pattern of acid phosphatase and acid esterase in human blood cells, including thymocytes, T lymphocytes, and B lymphocytes". Exp. Hematol. 8 (6): 737–41. PMID 6970673.

• Andersson B, Wentland MA, Ricafrente JY, et al. (1996). "A "double adaptor" method for improved shotgun library construction". Anal. Biochem. 236 (1): 107–13. doi:10.1006/abio.1996.0138. PMID 8619474.

• Whitelock RB, Fukuchi T, Zhou L, et al. (1997). "Cathepsin G, acid phosphatase, and alpha 1-proteinase inhibitor messenger RNA levels in keratoconus corneas". Invest. Ophthalmol. Vis. Sci. 38 (2): 529–34. PMID 9040486.

• Yu W, Andersson B, Worley KC, et al. (1997). "Large-scale concatenation cDNA sequencing". Genome Res. 7 (4): 353–8. doi:10.1101/gr.7.4.353. PMC 139146. PMID 9110174.

• Obermüller S, Kiecke C, von Figura K, Höning S (2002). "The tyrosine motifs of Lamp 1 and LAP determine their direct and indirect targeting to lysosomes". J. Cell Sci. 115 (Pt 1): 185–94. doi:10.1242/jcs.115.1.185. PMID 11801736.

• 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. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.

• 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. PMC 528928. PMID 15489334.

• Human ACP2 genome location and ACP2 gene details page in the UCSC Genome Browser.