Human_Genes_Functions
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Prototype stage

Gene detail

Read-only gene view with summary, GO, UniProt, NCBI, and representative sequence links.

GRCh38.p14 + GENCODE Release 50local-onlyPDO SQLite primaryread-only query modesqlite3 fallback available

Gene detail

PPM1D

PPM1D

protein_coding 17 60,599,735 - 60,666,293 PDO SQLite primary read-only query mode
Overview Summary GO UniProt Representative Transcripts FASTA ClinVar disease associations

Overview

Gene ID
ENSG00000170836
Gene type
protein_coding
Chromosome
17
Coordinates
60,599,735 - 60,666,293
Strand
+
Status
not available
NCBI summary UniProt GO Transcript FASTA Protein FASTA

Aliases

8493 CCDS11625 ENST00000305921.8 NM_003620 NM_003620.4 O15297 PP2C-DELTA Wip1 protein phosphatase 1D magnesium-dependent, delta isoform protein phosphatase 2C, delta isoform protein phosphatase, Mg2+/Mn2+ dependent, 1D wild-type p53-induced phosphatase 1

Summary

GENCODE gene_type=protein_coding; HGNC symbol=PPM1D; HGNC name=protein phosphatase; alias_count=15; RefSeq=NM_003620; UniProt=O15297; MANE Select=ENST00000305921.8,NM_003620.4

Source: GENCODE + HGNC complete set

8493 • protein-coding

The protein encoded by this gene is a member of the PP2C family of Ser/Thr protein phosphatases. PP2C family members are known to be negative regulators of cell stress response pathways. The expression of this gene is induced in a p53-dependent manner in response to various environmental stresses. While being induced by tumor suppressor protein TP53/p53, this phosphatase negatively regulates the activity of p38 MAP kinase, MAPK/p38, through which it reduces the phosphorylation of p53, and in turn suppresses p53-mediated transcription and apoptosis. This phosphatase thus mediates a feedback regulation of p38-p53 signaling that contributes to growth inhibition and the suppression of stress induced apoptosis. This gene is located in a chromosomal region known to be amplified in breast cancer. The amplification of this gene has been detected in both breast cancer cell line and primary breast tumors, which suggests a role of this gene in cancer development. [provided by RefSeq, Jul 2008]

NCBI Gene

UniProt

O15297 • reviewed

Involved in the negative regulation of p53 expression (PubMed:23242139). Required for the relief of p53-dependent checkpoint mediated cell cycle arrest. Binds to and dephosphorylates 'Ser-15' of TP53 and 'Ser-345' of CHEK1 which contributes to the functional inactivation of these proteins (PubMed:15870257, PubMed:16311512). Mediates MAPK14 dephosphorylation and inactivation (PubMed:21283629). Is also an important regulator of global heterochromatin silencing and critical in maintaining genome integrity (By similarity)

Protein phosphatase 1D · Nucleus; Cytoplasm, cytosol · EC 3.1.3.16

O15297 • reviewed

Involved in the negative regulation of p53 expression (PubMed:23242139). Required for the relief of p53-dependent checkpoint mediated cell cycle arrest. Binds to and dephosphorylates 'Ser-15' of TP53 and 'Ser-345' of CHEK1 which contributes to the functional inactivation of these proteins (PubMed:15870257, PubMed:16311512). Mediates MAPK14 dephosphorylation and inactivation (PubMed:21283629). Is also an important regulator of global heterochromatin silencing and critical in maintaining genome integrity (By similarity)

Protein phosphatase 1D · Nucleus; Cytoplasm, cytosol · EC 3.1.3.16

GO annotations

Biological process
  • GO:0006346 DNA methylation-dependent constitutive heterochromatin formation (ISS)
  • GO:0006346 DNA methylation-dependent constitutive heterochromatin formation (IEA)
  • GO:0009267 cellular response to starvation (IEA)
  • GO:0008285 negative regulation of cell population proliferation (TAS)
  • GO:0045814 negative regulation of gene expression, epigenetic (IMP)
  • GO:0045814 negative regulation of gene expression, epigenetic (IBA)
  • GO:0035970 peptidyl-threonine dephosphorylation (IDA)
  • GO:0006470 protein dephosphorylation (TAS)
  • GO:1902531 regulation of intracellular signal transduction (IBA)
  • GO:0060260 regulation of transcription initiation by RNA polymerase II (TAS)

+ 1 more

Cellular component
  • GO:0005829 cytosol (IEA)
  • GO:0005829 cytosol (IDA)
  • GO:0005730 nucleolus (IDA)
  • GO:0005654 nucleoplasm (IDA)
  • GO:0005654 nucleoplasm (TAS)
  • GO:0005634 nucleus (IEA)
  • GO:0005634 nucleus (IDA)
  • GO:0005634 nucleus (TAS)
Molecular function
  • GO:0043169 cation binding (IEA)
  • GO:0051019 mitogen-activated protein kinase binding (IPI)
  • GO:0051019 mitogen-activated protein kinase binding (IBA)
  • GO:0005515 protein binding (IPI)
  • GO:0005515 protein binding (IPI)
  • GO:0005515 protein binding (IPI)
  • GO:0005515 protein binding (IPI)
  • GO:0004674 protein serine/threonine kinase activity (TAS)
  • GO:0004722 protein serine/threonine phosphatase activity (IEA)
  • GO:0004722 protein serine/threonine phosphatase activity (IEA)

+ 4 more

Representative

Representative transcript
ENST00000305921
Representative protein
ENSP00000306682.2
Representative type
CCDS
Candidate count
2

GENCODE Release 50 annotation GTF · transcript.tag=CCDS; transcript_support_level=1

Transcript FASTA Protein FASTA

Transcripts

Transcript ID Name Type Status Protein Location
ENST00000870218 PPM1D-214 protein_coding not available ENSP00000540277.1 17:60,599,735 - 60,666,293 +
ENST00000870219 PPM1D-215 protein_coding not available ENSP00000540278.1 17:60,599,735 - 60,666,293 +
ENST00001125565 PPM1D-218 protein_coding not available ENSP00000795370.1 17:60,599,735 - 60,664,475 +
ENST00001136471 PPM1D-219 protein_coding not available ENSP00000805853.1 17:60,599,735 - 60,666,293 +
ENST00000975115 PPM1D-216 nonsense_mediated_decay not available ENSP00000644932.1 17:60,600,188 - 60,663,980 +
ENST00000305921 PPM1D-201 protein_coding not available ENSP00000306682.2 17:60,600,193 - 60,666,280 +
ENST00000693102 PPM1D-212 nonsense_mediated_decay not available ENSP00000509183.1 17:60,600,193 - 60,666,256 +
ENST00000685212 PPM1D-205 nonsense_mediated_decay not available ENSP00000509022.1 17:60,600,200 - 60,666,256 +
ENST00000693196 PPM1D-213 nonsense_mediated_decay not available ENSP00000510177.1 17:60,600,202 - 60,666,256 +
ENST00001020354 PPM1D-217 nonsense_mediated_decay not available ENSP00000690171.1 17:60,600,223 - 60,663,639 +
ENST00000392995 PPM1D-202 nonsense_mediated_decay not available ENSP00000376720.3 17:60,600,269 - 60,664,473 +
ENST00000685582 PPM1D-206 retained_intron not available not available 17:60,600,304 - 60,624,971 +
ENST00000688505 PPM1D-209 nonsense_mediated_decay not available ENSP00000510754.1 17:60,600,361 - 60,663,806 +
ENST00000629650 PPM1D-204 protein_coding not available ENSP00000486573.2 17:60,600,415 - 60,658,461 +
ENST00000687355 PPM1D-208 nonsense_mediated_decay not available ENSP00000509296.1 17:60,600,445 - 60,666,256 +
ENST00000686064 PPM1D-207 protein_coding not available ENSP00000508480.1 17:60,600,527 - 60,663,828 +
ENST00000689445 PPM1D-210 nonsense_mediated_decay not available ENSP00000509769.1 17:60,600,659 - 60,666,256 +
ENST00000590418 PPM1D-203 protein_coding_CDS_not_defined not available not available 17:60,604,594 - 60,633,957 +
ENST00000692386 PPM1D-211 retained_intron not available not available 17:60,632,511 - 60,666,256 +

FASTA

FASTA output is generated by backend query; the raw FASTA path is not exposed.

Open transcript export Open protein export

ClinVar disease associations

ClinVar disease associations: 0

ClinVar gene-disease tables are missing. Build the candidate database first.