# PLEKHM1

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{{Short description|Protein-coding gene in the species Homo sapiens}}
{{Infobox_gene}}

'''Pleckstrin homology domain-containing family M member 1''' also known as '''PLEKHM1''' is a [protein](/source/protein) that in humans is encoded by the ''PLEKHM1'' [gene](/source/gene).<ref name="pmid9205841">{{cite journal | vauthors = Nagase T, Ishikawa K, Nakajima D, Ohira M, Seki N, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O | title = 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 | journal = DNA Res. | volume = 4 | issue = 2 | pages = 141–50 |date=April 1997 | pmid = 9205841 | doi = 10.1093/dnares/4.2.141| doi-access = free }}</ref><ref name="pmid12820725">{{cite journal | vauthors = Hartel-Schenk S, Gratchev A, Hanski ML, Ogorek D, Trendelenburg G, Hummel M, Höpfner M, Scherübl H, Zeitz M, Hanski C | title = Novel adapter protein AP162 connects a sialyl-Le(x)-positive mucin with an apoptotic signal transduction pathway | journal = Glycoconj. J. | volume = 18 | issue = 11–12 | pages = 915–23 | year = 2001 | pmid = 12820725 | doi = 10.1023/A:1022256610674| s2cid = 6993267 | url = http://www.kluweronline.com/art.pdf?issn=0282-0080&volume=18&page=915 }}</ref>

== Function ==

PLEKHM1 may have critical function in [vesicular](/source/Vesicle_(biology_and_chemistry)) transport in [osteoclast](/source/osteoclast)s.<ref name="pmid14969387">{{cite journal | vauthors = van Wesenbeeck L, Odgren PR, Mackay CA, Van Hul W | title = Localization of the gene causing the osteopetrotic phenotype in the incisors absent (ia) rat on chromosome 10q32.1 | journal = J. Bone Miner. Res. | volume = 19 | issue = 2 | pages = 183–9 |date=February 2004 | pmid = 14969387 | doi = 10.1359/jbmr.2004.19.2.183 | s2cid = 22195601 | doi-access = free }}</ref>

PLEKHM1 contains a C-terminal [Rubicon Homology (RH) domain](/source/Rubicon_homology_domain), which mediates interaction with [small GTPase Rab7](/source/RAB7A).<ref>{{Cite web |title=PLEKHM1 - Pleckstrin homology domain-containing family M member 1 - Homo sapiens (Human) - PLEKHM1 gene & protein |url=https://www.uniprot.org/uniprot/Q9Y4G2 |access-date=2022-05-31 |website=www.uniprot.org |language=en}}</ref><ref name=":0">{{Cite journal |last1=Bhargava |first1=Hersh K. |last2=Tabata |first2=Keisuke |last3=Byck |first3=Jordan M. |last4=Hamasaki |first4=Maho |last5=Farrell |first5=Daniel P. |last6=Anishchenko |first6=Ivan |last7=DiMaio |first7=Frank |last8=Im |first8=Young Jun |last9=Yoshimori |first9=Tamotsu |last10=Hurley |first10=James H. |date=2020-07-21 |title=Structural basis for autophagy inhibition by the human Rubicon-Rab7 complex |journal=Proceedings of the National Academy of Sciences of the United States of America |volume=117 |issue=29 |pages=17003–17010 |doi=10.1073/pnas.2008030117 |issn=1091-6490 |pmc=7382272 |pmid=32632011|bibcode=2020PNAS..11717003B |doi-access=free }}</ref> This domain is shared with family RH domain containing family members [Rubicon](/source/Rubicon_(protein)) and [Pacer](/source/Kiaa0226_like), which are autophagy regulators.<ref>{{Cite journal |last1=Beltran |first1=S. |last2=Nassif |first2=M. |last3=Vicencio |first3=E. |last4=Arcos |first4=J. |last5=Labrador |first5=L. |last6=Cortes |first6=B. I. |last7=Cortez |first7=C. |last8=Bergmann |first8=C. A. |last9=Espinoza |first9=S. |last10=Hernandez |first10=M. F. |last11=Matamala |first11=J. M. |date=2019-03-27 |title=Network approach identifies Pacer as an autophagy protein involved in ALS pathogenesis |journal=Molecular Neurodegeneration |volume=14 |issue=1 |pages=14 |doi=10.1186/s13024-019-0313-9 |issn=1750-1326 |pmc=6437924 |pmid=30917850 |doi-access=free }}</ref><ref>{{Cite journal |last1=Tabata |first1=Keisuke |last2=Matsunaga |first2=Kohichi |last3=Sakane |first3=Ayuko |last4=Sasaki |first4=Takuya |last5=Noda |first5=Takeshi |last6=Yoshimori |first6=Tamotsu |date=December 2010 |title=Rubicon and PLEKHM1 negatively regulate the endocytic/autophagic pathway via a novel Rab7-binding domain |journal=Molecular Biology of the Cell |volume=21 |issue=23 |pages=4162–4172 |doi=10.1091/mbc.E10-06-0495 |issn=1939-4586 |pmc=2993745 |pmid=20943950}}</ref><ref name=":0" />

== Clinical significance ==

Mutations in the PLEKHM1 gene are associated with [osteopetrosis](/source/osteopetrosis) OPTB6.<ref name="pmid14969387"/>

== References ==
{{Reflist}}

==Further reading==
{{refbegin | 2}}
*{{cite journal   |vauthors=Stelzl U, Worm U, Lalowski M, etal |title=A human protein-protein interaction network: a resource for annotating the proteome. |journal=Cell |volume=122 |issue= 6 |pages= 957–68 |year= 2005 |pmid= 16169070 |doi= 10.1016/j.cell.2005.08.029 |hdl= 11858/00-001M-0000-0010-8592-0 |s2cid=8235923 |hdl-access= free }}
*{{cite journal   |vauthors=Hartel-Schenk S, Gratchev A, Hanski ML, etal |title=Novel adapter protein AP162 connects a sialyl-Le(x)-positive mucin with an apoptotic signal transduction pathway. |journal=Glycoconj. J. |volume=18 |issue= 11–12 |pages= 915–23 |year=  2001|pmid= 12820725 |doi=10.1023/A:1022256610674  |s2cid=6993267 }}
*{{cite journal   |vauthors=Del Fattore A, Fornari R, Van Wesenbeeck L, etal |title=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. |journal=J. Bone Miner. Res. |volume=23 |issue= 3 |pages= 380–91 |year= 2008 |pmid= 17997709 |doi= 10.1359/jbmr.071107  |s2cid=34037255 |doi-access=free }}
*{{cite journal   |vauthors=Edwards TL, Scott WK, Almonte C, etal |title=Genome-Wide Association Study Confirms SNPs in SNCA and the MAPT Region as Common Risk Factors for Parkinson Disease. |journal=Annals of Human Genetics |volume= 74|issue=  2|pages= 97–109 |year= 2010 |pmid= 20070850 |doi= 10.1111/j.1469-1809.2009.00560.x  |pmc=2853717 }}
*{{cite journal   |vauthors=Kimura K, Wakamatsu A, Suzuki Y, etal |title=Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. |journal=Genome Res. |volume=16 |issue= 1 |pages= 55–65 |year= 2006 |pmid= 16344560 |doi= 10.1101/gr.4039406  |pmc=1356129 }}
*{{cite journal   |vauthors=Strausberg RL, Feingold EA, Grouse LH, etal |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2002 |pmid= 12477932 |doi= 10.1073/pnas.242603899  |pmc=139241 |bibcode=2002PNAS...9916899M |doi-access=free }}
*{{cite journal   |vauthors=Van Wesenbeeck L, Odgren PR, Coxon FP, etal |title=Involvement of PLEKHM1 in osteoclastic vesicular transport and osteopetrosis in incisors absent rats and humans. |journal=J. Clin. Invest. |volume=117 |issue= 4 |pages= 919–30 |year= 2007 |pmid= 17404618 |doi= 10.1172/JCI30328  |pmc=1838941 }}
{{refend}}

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Adapted from the Wikipedia article [PLEKHM1](https://en.wikipedia.org/wiki/PLEKHM1) by Wikipedia contributors ([contributor history](https://en.wikipedia.org/wiki/PLEKHM1?action=history)). Available under [Creative Commons Attribution-ShareAlike 4.0 International](https://creativecommons.org/licenses/by-sa/4.0/). Changes may have been made.