PLEKHM1

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]

PLEKHM1
Identifiers
Aliases	PLEKHM1, AP162, B2, OPTB6, pleckstrin homology and RUN domain containing M1, OPTA3
External IDs	OMIM: 611466; MGI: 2443207; HomoloGene: 8871; GeneCards: PLEKHM1; OMA:PLEKHM1 - orthologs
Gene location (Human) Chr. Chromosome 17 (human)[1] Band 17q21.31 Start 45,435,900 bp[1] End 45,490,749 bp[1]
Gene location (Mouse) Chr. Chromosome 11 (mouse)[2] Band 11|11 E1 Start 103,255,101 bp[2] End 103,303,513 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in blood bone marrow bone marrow cells skin of leg vagina minor salivary glands right hemisphere of cerebellum sural nerve granulocyte ectocervix Top expressed in granulocyte zygote stroma of bone marrow mesenteric lymph nodes blood transitional epithelium of urinary bladder decidua interventricular septum right lung otolith organ More reference expression data BioGPS n/a
Gene ontology Molecular function metal ion binding Cellular component lysosomal membrane endosome membrane lysosome membrane cytoplasm endosome nucleolus intracellular membrane-bounded organelle Biological process autophagy protein transport intracellular signal transduction lysosome localization positive regulation of bone resorption positive regulation of ruffle assembly Sources:Amigo / QuickGO
Orthologs Species Human Mouse 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 Mb Chr 11: 103.26 – 103.3 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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]