PLEKHM1

Pleckstrin homology domain containing, family M (with RUN domain) member 1
Identifiers
Symbols	PLEKHM1 ; AP162; B2; OPTB6
External IDs	OMIM: 611466 MGI: 2443207 HomoloGene: 8871 GeneCards: PLEKHM1 Gene
Gene ontology Molecular function • metal ion binding Cellular component • lysosomal membrane • endosome membrane Biological process • autophagy • protein transport • intracellular signal transduction Sources: Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	9842	353047
Ensembl	ENSG00000225190	ENSMUSG00000034247
UniProt	Q9Y4G2	Q7TSI1
RefSeq (mRNA)	NM_014798	NM_183034
RefSeq (protein)	NP_055613	NP_898855
Location (UCSC)	Chr 17: 45.44 – 45.49 Mb	Chr 11: 103.36 – 103.41 Mb
PubMed search

Pleckstrin homology domain-containing family M member 1 also known as PLEKHM1 is a protein that in humans is encoded by the PLEKHM1 gene.^[1][2]

Function

PLEKHM1 may have critical function in vesicular transport in osteoclasts.^[3]

Clinical significance

Mutations in the PLEKHM1 gene are associated with osteopetrosis OPTB6.^[3]

References

1. Nagase T, Ishikawa K, Nakajima D, Ohira M, Seki N, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O (April 1997). "Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro". DNA Res. 4 (2): 141–50. doi:10.1093/dnares/4.2.141. PMID 9205841.
2. Hartel-Schenk S, Gratchev A, Hanski ML, Ogorek D, Trendelenburg G, Hummel M, Höpfner M, Scherübl H, Zeitz M, Hanski C (2001). "Novel adapter protein AP162 connects a sialyl-Le(x)-positive mucin with an apoptotic signal transduction pathway" (PDF). Glycoconj. J. 18 (11-12): 915–23. doi:10.1023/A:1022256610674. PMID 12820725.
3. van Wesenbeeck L, Odgren PR, Mackay CA, Van Hul W (February 2004). "Localization of the gene causing the osteopetrotic phenotype in the incisors absent (ia) rat on chromosome 10q32.1". J. Bone Miner. Res. 19 (2): 183–9. doi:10.1359/jbmr.2004.19.2.183. PMID 14969387.

Further reading

• Stelzl U, Worm U, Lalowski M, et al. (2005). "A human protein-protein interaction network: a resource for annotating the proteome.". Cell 122 (6): 957–68. doi:10.1016/j.cell.2005.08.029. PMID 16169070.
• Hartel-Schenk S, Gratchev A, Hanski ML, et al. (2001). "Novel adapter protein AP162 connects a sialyl-Le(x)-positive mucin with an apoptotic signal transduction pathway.". Glycoconj. J. 18 (11-12): 915–23. doi:10.1023/A:1022256610674. PMID 12820725.
• Del Fattore A, Fornari R, Van Wesenbeeck L, et al. (2008). "A new heterozygous mutation (R714C) of the osteopetrosis gene, pleckstrin homolog domain containing family M (with run domain) member 1 (PLEKHM1), impairs vesicular acidification and increases TRACP secretion in osteoclasts.". J. Bone Miner. Res. 23 (3): 380–91. doi:10.1359/jbmr.071107. PMID 17997709.
• Edwards TL, Scott WK, Almonte C, et al. (2010). "Genome-Wide Association Study Confirms SNPs in SNCA and the MAPT Region as Common Risk Factors for Parkinson Disease.". Annals of Human Genetics 74 (2): HASH(0x24e3850). doi:10.1111/j.1469-1809.2009.00560.x. PMC 2853717. PMID 20070850.
• Kimura K, Wakamatsu A, Suzuki Y, et al. (2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC 1356129. PMID 16344560.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2002). "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. PMC 139241. PMID 12477932.
• Van Wesenbeeck L, Odgren PR, Coxon FP, et al. (2007). "Involvement of PLEKHM1 in osteoclastic vesicular transport and osteopetrosis in incisors absent rats and humans.". J. Clin. Invest. 117 (4): 919–30. doi:10.1172/JCI30328. PMC 1838941. PMID 17404618.