From Wikipedia, the free encyclopedia
Protein-coding gene in the species Homo sapiens
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 .