PPM1K Gene Summary [Human]
This gene encodes a member of the PPM family of Mn2+/Mg2+-dependent protein phosphatases. The encoded protein, essential for cell survival and development, is targeted to the mitochondria where it plays a key role in regulation of the mitochondrial permeability transition pore. [provided by RefSeq, Sep 2012]
Details
| Type | Protein Coding |
| Official Symbol | PPM1K |
| Official Name | protein phosphatase, Mg2+/Mn2+ dependent 1K [Source:HGNC Symbol;Acc:HGNC:25415] |
| Ensembl ID | ENSG00000163644 |
| Bio databases IDs | |
| Aliases | protein phosphatase, Mg2+/Mn2+ dependent 1K, PP2C-type mitochondrial phosphoprotein phosphatase, protein phosphatase 2C kappa, branched-chain α-ketoacid dehydrogenase phosphatase |
| Synonyms | 2900063A19Rik, A930026L03Rik, BCKDH, BDP, MSUDMV, PP2C-kappa, PP2Cm, PP2C-κ, protein phosphatase 1K (PP2C domain containing), protein phosphatase, Mg2+/Mn2+ dependent 1K, protein phosphatase, Mg2+/Mn2+ dependent, 1K, PTMP, RGD1308501, UG0882E07 |
| 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 PPM1K often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Sigma factor PP2C-like phosphatases
- Protein phosphatase 2C
- protein serine/threonine phosphatase
- phosphatase
- protein binding
- Serine/threonine phosphatases, family 2C, catalytic domain
- manganese ion binding
- PP2Cc
Pathways
Biological processes and signaling networks where the PPM1K 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
- mild variant maple syrup urine disease
- systemic lupus erythematosus
- metabolic syndrome X
- gestational diabetes mellitus
- conduct disorder
- infection by HIV-1
regulates
- branched chain amino acids
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
- Mitochondria
- mitochondrial matrix
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PPM1K gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- peptidyl-threonine dephosphorylation
- branched chain family amino acid catabolic process
Cellular Component
Where in the cell the gene product is active
- mitochondrial matrix
- mitochondrion
Molecular Function
What the gene product does at the molecular level
- [3-methyl-2-oxobutanoate dehydrogenase (lipoamide)]-phosphatase activity
- protein serine/threonine phosphatase activity
- protein binding
- manganese ion binding
- myosin phosphatase activity