PLEKHM1 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | PLEKHM1 |
| Official Name | pleckstrin homology and RUN domain containing M1 [Source:HGNC Symbol;Acc:HGNC:29017] |
| Ensembl ID | ENSG00000225190 |
| Bio databases IDs | |
| Aliases | pleckstrin homology and RUN domain containing M1 |
| Synonyms | AP162, B2, D330036J23Rik, G45IP2, OPTA3, OPTB6, pleckstrin homology and RUN domain containing M1, pleckstrin homology domain containing, family M (with RUN domain) member 1 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human PLEKHM1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- domain involved in Ras-like GTPase signaling
- protein kinase C conserved region 1 (C1 domain) superfamily
- PH domain
- protein binding
- Pleckstrin homology-like domain
- Putative zinc-RING and/or ribbon
- RUN domain
Pathways
Biological processes and signaling networks where the PLEKHM1 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- COVID-19
- Parkinson disease
- Alzheimer disease
- alopecia
- autosomal recessive osteopetrosis
- ovarian carcinoma
- epithelial ovarian cancer
- postmenopausal osteoporosis
- autosomal recessive osteopetrosis type 6
- autosomal dominant osteopetrosis type 3
role in cell
- expression in
- number
- assembly
- localization
- function
- abnormal morphology
- degradation in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- intracellular membrane-bounded organelle
- vesicles
- lysosome
- vesicle membrane
- nucleoplasm
- nucleoli
- autolysosomes
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PLEKHM1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- lysosome localization
- positive regulation of bone resorption
- protein transport
- positive regulation of ruffle assembly
Cellular Component
Where in the cell the gene product is active
- late endosome membrane
- intracellular membrane-bounded organelle
- nucleolus
- lysosome
Molecular Function
What the gene product does at the molecular level
- protein binding
- metal ion binding