PLEKHM1
Identifiers
AliasesPLEKHM1, AP162, B2, OPTB6, pleckstrin homology and RUN domain containing M1, OPTA3
External IDsOMIM: 611466 MGI: 2443207 HomoloGene: 8871 GeneCards: PLEKHM1
Orthologs
SpeciesHumanMouse
Entrez

9842

353047

Ensembl

ENSG00000277111
ENSG00000225190
ENSG00000276358

ENSMUSG00000034247

UniProt

Q9Y4G2

Q7TSI1

RefSeq (mRNA)

NM_014798
NM_001352825

NM_183034

RefSeq (protein)

NP_055613
NP_001339754

NP_898855

Location (UCSC)Chr 17: 45.44 – 45.49 MbChr 11: 103.26 – 103.3 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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

  1. 1 2 3 ENSG00000225190, ENSG00000276358 GRCh38: Ensembl release 89: ENSG00000277111, ENSG00000225190, ENSG00000276358 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000034247 - 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. 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.
  6. 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.
  7. 1 2 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.
  8. "PLEKHM1 - Pleckstrin homology domain-containing family M member 1 - Homo sapiens (Human) - PLEKHM1 gene & protein". www.uniprot.org. Retrieved 2022-05-31.
  9. 1 2 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.
  10. 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.
  11. 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


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