Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
152926
Gene name Gene Name - the full gene name approved by the HGNC.
Protein phosphatase, Mg2+/Mn2+ dependent 1K
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PPM1K
Synonyms (NCBI Gene) Gene synonyms aliases
BCKDH, BDP, MSUDMV, PP2Ckappa, PP2Cm, PTMP, UG0882E07
Disease Acronyms (UniProt) Disease acronyms from UniProt database
MSUDMV
Chromosome Chromosome number
4
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
4q22.1
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 25416956, 32296183
GO:0005739 Component Mitochondrion IDA
GO:0005759 Component Mitochondrial matrix TAS
GO:0006470 Process Protein dephosphorylation IEA
GO:0009083 Process Branched-chain amino acid catabolic process TAS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
611065 25415 ENSG00000163644
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Maple syrup urine disease Maple Syrup Urine Disease, Classic Maple Syrup Urine Disease, Intermittent Maple Syrup Urine Disease, Maple Syrup Urine Disease, Thiamine Responsive, Intermediate Maple Syrup Urine Disease, MAPLE SYRUP URINE DISEASE, MILD VARIANT, Intermediate maple syrup urine disease rs137852870, rs137852871, rs137852872, rs137852874, rs137852875, rs79761867, rs121965004, rs121965005, rs1562242135, rs121964999, rs796052134, rs796052135, rs121965000, rs121965001, rs768832921
View all (163 more)
23086801
Unknown
Disease term Disease name Evidence References Source
Maple Syrup Urine Disease intermediate maple syrup urine disease, maple syrup urine disease, mild variant GenCC
Gout Gout GWAS
Bipolar Disorder Bipolar Disorder GWAS
Breast Cancer Breast Cancer Importantly, breast cancer patients bearing PRC2 LOF mutations displayed significantly worse prognosis compared with PRC2 wild-type patients GWAS, CBGDA
Associations from Text Mining
Disease Name Relationship Type References
Carcinogenesis Associate 36417878
Carcinoma Hepatocellular Inhibit 23376929
Carcinoma Hepatocellular Associate 36417878
Carcinoma Transitional Cell Associate 31805718
Cardiovascular Diseases Associate 30451284
Colorectal Neoplasms Associate 36104170
Diabetes Mellitus Type 2 Associate 28768654, 30451284
Heart Defects Congenital Associate 31340305
Heredodegenerative Disorders Nervous System Associate 30451284
Insulin Resistance Associate 28768654