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
miRTarBase ID miRNA Experiments Reference
MIRT715656 hsa-miR-5571-5p HITS-CLIP 19536157
MIRT715655 hsa-miR-668-3p HITS-CLIP 19536157
MIRT715654 hsa-miR-2681-5p HITS-CLIP 19536157
MIRT622625 hsa-miR-376a-5p HITS-CLIP 23824327
MIRT622624 hsa-miR-4760-5p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
21
GO ID Ontology Definition Evidence Reference
GO:0004721 Function Phosphoprotein phosphatase activity IEA
GO:0004722 Function Protein serine/threonine phosphatase activity IBA
GO:0004722 Function Protein serine/threonine phosphatase activity IDA 17374715, 22291014, 29779826
GO:0004722 Function Protein serine/threonine phosphatase activity IEA
GO:0004722 Function Protein serine/threonine phosphatase activity TAS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
611065 25415 ENSG00000163644
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

Accession ID Position in sequence Description Type
PF00481 PP2C 96 339 Protein phosphatase 2C Family
Sequence
Sequence length 372
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Branched-chain amino acid catabolism
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Maple syrup urine disease, mild variant Pathogenic rs2476675975 RCV004556889
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
COLOR VISION DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GESTATIONAL DIABETES GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GOUT GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HEART FAILURE CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Carcinogenesis Associate 36417878
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Inhibit 23376929
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Associate 36417878
★☆☆☆☆
Found in Text Mining only
Carcinoma Transitional Cell Associate 31805718
★☆☆☆☆
Found in Text Mining only
Cardiovascular Diseases Associate 30451284
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Associate 36104170
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus Type 2 Associate 28768654, 30451284
★☆☆☆☆
Found in Text Mining only
Heart Defects Congenital Associate 31340305
★☆☆☆☆
Found in Text Mining only
Heredodegenerative Disorders Nervous System Associate 30451284
★☆☆☆☆
Found in Text Mining only
Insulin Resistance Associate 28768654
★☆☆☆☆
Found in Text Mining only