PPM1K (protein phosphatase, Mg2+/Mn2+ dependent 1K)
|
Gene
Gene information from NCBI Gene database.
|
|
| Entrez ID | 152926 |
| Gene name | Protein phosphatase, Mg2+/Mn2+ dependent 1K |
| Gene symbol | PPM1K |
| Synonyms (NCBI Gene) |
BCKDHBDPMSUDMVPP2CkappaPP2CmPTMPUG0882E07
|
| Chromosome | 4 |
| Chromosome location | 4q22.1 |
| Summary | 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 permea |
|
miRNA
miRNA information provided by mirtarbase database.
458
|
|||||||||||||||||||||||||
|
|||||||||||||||||||||||||
|
Gene ontology (GO)
Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
21
|
|||||||||||||||||||||||||||||||
|
|||||||||||||||||||||||||||||||
|
Other IDs
Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
|
|||||||
|
|||||||
|
Protein
Protein information from UniProt database.
|
|||||||||||
|
UniProt ID
Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
|
Q8N3J5 | ||||||||||
| Protein name | Protein phosphatase Mn(2+)-dependent 1K (EC 3.1.3.16) (Branched-chain alpha-ketoacid dehydrogenase phosphatase) (BCKDH) (BDP) (EC 3.1.3.52) (PP2C domain-containing protein phosphatase 1K) (PP2C-like mitochondrial protein) (PP2C-type mitochondrial phosphop | ||||||||||
| Protein function | Serine/threonine-protein phosphatase component of macronutrients metabolism. Forms a functional kinase and phosphatase pair with BCKDK, serving as a metabolic regulatory node that coordinates branched-chain amino acids (BCAAs) with glucose and l | ||||||||||
| PDB | 2IQ1 , 4DA1 , 6AK7 | ||||||||||
| Family and domains |
Pfam
|
||||||||||
| Sequence |
|
||||||||||
| Sequence length | 372 | ||||||||||
| Interactions | View interactions | ||||||||||
|
Pathways
Pathway information has different metabolic/signaling pathways associated with genes.
|
|||||||
|
|||||||
|
Associated diseases
Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
12
|
|||||||||||||||||||||||||||||||||||||||||||||||||
|
Evidence Score:
★☆☆☆☆ Gene-disease association found in Text Mining only
★★☆☆☆ Found in Text Mining and Unknown/Other Associations
★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources
★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
|
|||||||||||||||||||||||||||||||||||||||||||||||||
|
|||||||||||||||||||||||||||||||||||||||||||||||||
|
|||||||||||||||||||||||||||||||||||||||||||||||||
|
|||||||||||||||||||||||||||||||||||||||||||||||||