Identity
HGNC
LOCATION
17q21.31
LOCUSID
ALIAS
AP162,B2,OPTA3,OPTB6
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 9842
MIM: 611466
HGNC: 29017
Ensembl: ENSG00000225190
Variants:
dbSNP: 9842
ClinVar: 9842
TCGA: ENSG00000225190
COSMIC: PLEKHM1
RNA/Proteins
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38797732 | 2024 | Downregulation of MYBL1 in endothelial cells contributes to atherosclerosis by repressing PLEKHM1-inducing autophagy. | 1 |
| 38797732 | 2024 | Downregulation of MYBL1 in endothelial cells contributes to atherosclerosis by repressing PLEKHM1-inducing autophagy. | 1 |
| 35981699 | 2022 | Osteopetrosis associated with PLEKHM1 and SNX10 genes, both involved in osteoclast vesicular trafficking. | 3 |
| 35981699 | 2022 | Osteopetrosis associated with PLEKHM1 and SNX10 genes, both involved in osteoclast vesicular trafficking. | 3 |
| 33452816 | 2021 | The endolysosomal adaptor PLEKHM1 is a direct target for both mTOR and MAPK pathways. | 3 |
| 33452816 | 2021 | The endolysosomal adaptor PLEKHM1 is a direct target for both mTOR and MAPK pathways. | 3 |
| 25498145 | 2015 | PLEKHM1 regulates autophagosome-lysosome fusion through HOPS complex and LC3/GABARAP proteins. | 270 |
| 25500191 | 2015 | PLEKHM1 regulates Salmonella-containing vacuole biogenesis and infection. | 49 |
| 25905573 | 2015 | PLEKHM1: Adapting to life at the lysosome. | 10 |
| 25498145 | 2015 | PLEKHM1 regulates autophagosome-lysosome fusion through HOPS complex and LC3/GABARAP proteins. | 270 |
| 25500191 | 2015 | PLEKHM1 regulates Salmonella-containing vacuole biogenesis and infection. | 49 |
| 25905573 | 2015 | PLEKHM1: Adapting to life at the lysosome. | 10 |
| 20943950 | 2010 | Rubicon and PLEKHM1 negatively regulate the endocytic/autophagic pathway via a novel Rab7-binding domain. | 62 |
| 20943950 | 2010 | Rubicon and PLEKHM1 negatively regulate the endocytic/autophagic pathway via a novel Rab7-binding domain. | 62 |
| 17997709 | 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. | 24 |
Citation
Dessen P
PLEKHM1 (pleckstrin homology and RUN domain containing M1)
Atlas Genet Cytogenet Oncol Haematol. 2016-10-01
Online version: http://atlasgeneticsoncology.org/gene/56569/plekhm1-(pleckstrin-homology-and-run-domain-containing-m1)
