Tbio PLEKHM1 Pleckstrin homology domain-containing family M member 1

Protein Summary

Description

Proposed to act as a multivalent adapter protein that regulates Rab7-dependent and HOPS complex-dependent fusion events in the endolysosomal system and couples autophagic and the endocytic trafficking pathways. Required for late stages of endolysosomal maturation, facilitating both endocytosis-mediated degradation of growth factor receptors and autophagosome clearance. Seems to be involved in the terminal maturation of autophagosomes and to mediate autophagosome-lysosome fusion (PubMed:25498145). Positively regulates lysosome peripheral distribution and ruffled border formation in osteoclasts (By similarity). May be involved in negative regulation of endocytic transport from early endosome to late endosome/lysosome implicating its association with Rab7 (PubMed:20943950). May have a role in sialyl-lex-mediated transduction of apoptotic signals (PubMed:12820725). Involved in bone resorption (By similarity). In case of infection contributes to Salmonella typhimurium pathogenesis by supporting the integrity of the Salmonella-containing vacuole (SCV) probably in concert with the HOPS complex and Rab7 (PubMed:25500191). The protein encoded by this gene is essential for bone resorption, and may play a critical role in vesicular transport in the osteoclast. Mutations in this gene are associated with autosomal recessive osteopetrosis type 6 (OPTB6). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2009]

Uniprot Accession IDs

• Q9Y4G2
• Q6P2R5
• Q8TEL9
• Q9NPP5
• Q9NYA0
• PH domain-containing family M member 1

Gene Name

• PLEKHM1

Ensembl ID

• ENST00000430334
• ENSP00000389913
• ENSG00000225190
• ENST00000613787
• ENSP00000479066
• ENSG00000277111
• ENST00000617688
• ENSP00000483820
• ENSG00000276358

Symbol

• KIAA0356
• B2
• AP162
• OPTA3
• OPTB6

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
metabolite	0.82
tissue	0.75
protein domain	0.73
drug perturbation	0.71
microRNA	0.7

Protein Classes

No PANTHER Classes or DTO Classes found

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 70.89   (req: < 5)

Gene RIFs: 9   (req: <= 3)

Antibodies: 129   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 70.89   (req: >= 5)

Gene RIFs: 9   (req: > 3)

Antibodies: 129   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 7

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0