Protein-coding gene in the species Homo sapiens
| PLEKHM1 |
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| Identifiers |
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| Aliases | PLEKHM1, AP162, B2, OPTB6, pleckstrin homology and RUN domain containing M1, OPTA3 |
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| External IDs | OMIM: 611466; MGI: 2443207; HomoloGene: 8871; GeneCards: PLEKHM1; OMA:PLEKHM1 - orthologs |
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| Gene location (Human) |
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 | | Chr. | Chromosome 17 (human)[1] |
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| | Band | 17q21.31 | Start | 45,435,900 bp[1] |
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| End | 45,490,749 bp[1] |
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| Gene location (Mouse) |
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 | | Chr. | Chromosome 11 (mouse)[2] |
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| | Band | 11|11 E1 | Start | 103,255,101 bp[2] |
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| End | 103,303,513 bp[2] |
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| RNA expression pattern |
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| Bgee | | Human | Mouse (ortholog) |
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| Top expressed in | - blood
- bone marrow
- bone marrow cells
- skin of leg
- vagina
- minor salivary glands
- right hemisphere of cerebellum
- sural nerve
- granulocyte
- ectocervix
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| | Top expressed in | - granulocyte
- zygote
- stroma of bone marrow
- mesenteric lymph nodes
- blood
- transitional epithelium of urinary bladder
- decidua
- interventricular septum
- right lung
- otolith organ
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| | More reference expression data |
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| BioGPS | |
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| Gene ontology |
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| Molecular function | | | Cellular component | - lysosomal membrane
- endosome membrane
- lysosome
- membrane
- cytoplasm
- endosome
- nucleolus
- intracellular membrane-bounded organelle
| | Biological process | - autophagy
- protein transport
- intracellular signal transduction
- lysosome localization
- positive regulation of bone resorption
- positive regulation of ruffle assembly
| | Sources:Amigo / QuickGO |
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| Orthologs |
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| Species | Human | Mouse |
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| Entrez | | |
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| Ensembl | |
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ENSG00000277111
ENSG00000225190
ENSG00000276358 |
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| UniProt | | |
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| RefSeq (mRNA) | | |
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| RefSeq (protein) | | |
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| Location (UCSC) | Chr 17: 45.44 – 45.49 Mb | Chr 11: 103.26 – 103.3 Mb |
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| PubMed search | [3] | [4] |
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| Wikidata |
| View/Edit Human | View/Edit Mouse |
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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.[5][6]
Function
PLEKHM1 may have critical function in vesicular transport in osteoclasts.[7]
PLEKHM1 contains a C-terminal Rubicon Homology (RH) domain, which mediates interaction with small GTPase Rab7.[8][9] This domain is shared with family RH domain containing family members Rubicon and Pacer, which are autophagy regulators.[10][11][9]
Clinical significance
Mutations in the PLEKHM1 gene are associated with osteopetrosis OPTB6.[7]
References
- ^ a b c ENSG00000225190, ENSG00000276358 GRCh38: Ensembl release 89: ENSG00000277111, ENSG00000225190, ENSG00000276358 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000034247 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ 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.
- ^ 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. S2CID 6993267.
- ^ a b 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. S2CID 22195601.
- ^ "PLEKHM1 - Pleckstrin homology domain-containing family M member 1 - Homo sapiens (Human) - PLEKHM1 gene & protein". www.uniprot.org. Retrieved 2022-05-31.
- ^ a b Bhargava, Hersh K.; Tabata, Keisuke; Byck, Jordan M.; Hamasaki, Maho; Farrell, Daniel P.; Anishchenko, Ivan; DiMaio, Frank; Im, Young Jun; Yoshimori, Tamotsu; Hurley, James H. (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. Bibcode:2020PNAS..11717003B. doi:10.1073/pnas.2008030117. ISSN 1091-6490. PMC 7382272. PMID 32632011.
- ^ Beltran, S.; Nassif, M.; Vicencio, E.; Arcos, J.; Labrador, L.; Cortes, B. I.; Cortez, C.; Bergmann, C. A.; Espinoza, S.; Hernandez, M. F.; Matamala, J. M. (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. PMC 6437924. 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. PMC 2993745. PMID 20943950.
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. hdl:11858/00-001M-0000-0010-8592-0. PMID 16169070. S2CID 8235923.
- 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. S2CID 6993267.
- 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. S2CID 34037255.
- 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): 97–109. 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. Bibcode:2002PNAS...9916899M. 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.
