Biology:PLEKHM1
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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]
PLEKHM1 contains a C-terminal Rubicon Homology (RH) domain, which mediates interaction with small GTPase Rab7.[4][5] This domain is shared with family RH domain containing family members Rubicon and Pacer, which are autophagy regulators.[6][7][5]
Clinical significance
Mutations in the PLEKHM1 gene are associated with osteopetrosis OPTB6.[3]
References
- ↑ "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. April 1997. doi:10.1093/dnares/4.2.141. PMID 9205841.
- ↑ "Novel adapter protein AP162 connects a sialyl-Le(x)-positive mucin with an apoptotic signal transduction pathway". Glycoconj. J. 18 (11–12): 915–23. 2001. doi:10.1023/A:1022256610674. PMID 12820725. http://www.kluweronline.com/art.pdf?issn=0282-0080&volume=18&page=915.
- ↑ 3.0 3.1 "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. February 2004. doi:10.1359/jbmr.2004.19.2.183. PMID 14969387.
- ↑ "PLEKHM1 - Pleckstrin homology domain-containing family M member 1 - Homo sapiens (Human) - PLEKHM1 gene & protein" (in en). https://www.uniprot.org/uniprot/Q9Y4G2.
- ↑ 5.0 5.1 Bhargava, Hersh K.; Tabata, Keisuke; Byck, Jordan M.; Hamasaki, Maho; Farrell, Daniel P.; Anishchenko, Ivan; DiMaio, Frank; Im, Young Jun et al. (2020-07-21). "Structural basis for autophagy inhibition by the human Rubicon-Rab7 complex". Proceedings of the National Academy of Sciences of the United States of America 117 (29): 17003–17010. doi:10.1073/pnas.2008030117. ISSN 1091-6490. PMID 32632011.
- ↑ Beltran, S.; Nassif, M.; Vicencio, E.; Arcos, J.; Labrador, L.; Cortes, B. I.; Cortez, C.; Bergmann, C. A. et al. (2019-03-27). "Network approach identifies Pacer as an autophagy protein involved in ALS pathogenesis". Molecular Neurodegeneration 14 (1): 14. doi:10.1186/s13024-019-0313-9. ISSN 1750-1326. PMID 30917850.
- ↑ Tabata, Keisuke; Matsunaga, Kohichi; Sakane, Ayuko; Sasaki, Takuya; Noda, Takeshi; Yoshimori, Tamotsu (December 2010). "Rubicon and PLEKHM1 negatively regulate the endocytic/autophagic pathway via a novel Rab7-binding domain". Molecular Biology of the Cell 21 (23): 4162–4172. doi:10.1091/mbc.E10-06-0495. ISSN 1939-4586. PMID 20943950.
Further reading
- "A human protein-protein interaction network: a resource for annotating the proteome.". Cell 122 (6): 957–68. 2005. doi:10.1016/j.cell.2005.08.029. PMID 16169070.
- "Novel adapter protein AP162 connects a sialyl-Le(x)-positive mucin with an apoptotic signal transduction pathway.". Glycoconj. J. 18 (11–12): 915–23. 2001. doi:10.1023/A:1022256610674. PMID 12820725.
- "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. 2008. doi:10.1359/jbmr.071107. PMID 17997709.
- "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): 97–109. 2010. doi:10.1111/j.1469-1809.2009.00560.x. PMID 20070850.
- "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.". Genome Res. 16 (1): 55–65. 2006. doi:10.1101/gr.4039406. PMID 16344560.
- "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. 2002. doi:10.1073/pnas.242603899. PMID 12477932. Bibcode: 2002PNAS...9916899M.
- "Involvement of PLEKHM1 in osteoclastic vesicular transport and osteopetrosis in incisors absent rats and humans.". J. Clin. Invest. 117 (4): 919–30. 2007. doi:10.1172/JCI30328. PMID 17404618.
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