PPM1F protein phosphatase, Mg2+/Mn2+ dependent 1F [Homo sapiens (human)] - Gene

Summary

Official Symbol: PPM1Fprovided by HGNC
Official Full Name: protein phosphatase, Mg2+/Mn2+ dependent 1Fprovided by HGNC
Primary source: HGNC:HGNC:19388
See related: Ensembl:ENSG00000100034 MIM:619309; AllianceGenome:HGNC:19388
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CAMKP; FEM-2; POPX2; hFEM-2; CaMKPase
Summary: 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. This phosphatase can interact with Rho guanine nucleotide exchange factors (PIX), and thus block the effects of p21-activated kinase 1 (PAK), a protein kinase mediating biological effects downstream of Rho GTPases. Calcium/calmodulin-dependent protein kinase II gamma (CAMK2G/CAMK-II) is found to be one of the substrates of this phosphatase. The overexpression of this phosphatase or CAMK2G has been shown to mediate caspase-dependent apoptosis. An alternatively spliced transcript variant has been identified, but its full-length nature has not been determined. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in placenta (RPKM 16.9), spleen (RPKM 14.5) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 22q11.22

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	22	NC_000022.11 (21919425..21952848, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	22	NC_060946.1 (22332962..22366379, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	22	NC_000022.10 (22273798..22307220, complement)

Chromosome 22 - NC_000022.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The BHLHE40-PPM1F-AMPK pathway regulates energy metabolism and is associated with the aggressiveness of endometrial cancer.
Title: The BHLHE40‒PPM1F‒AMPK pathway regulates energy metabolism and is associated with the aggressiveness of endometrial cancer.
Circular RNA circPPM1F modulates M1 macrophage activation and pancreatic islet inflammation in type 1 diabetes mellitus.
Title: Circular RNA circPPM1F modulates M1 macrophage activation and pancreatic islet inflammation in type 1 diabetes mellitus.
PPM1F controls integrin activity via a conserved phospho-switch.
Title: PPM1F controls integrin activity via a conserved phospho-switch.
Phosphatase POPX2 interferes with cell cycle by interacting with Chk1.
Title: Phosphatase POPX2 interferes with cell cycle by interacting with Chk1.
results extend prior work linking PPM1F to Post Traumatic Stress Disorder and suggest that variants in this gene may have bearing on the neural integrity of the prefrontal cortex.
Title: The PPM1F gene moderates the association between PTSD and cortical thickness.
PPM1F is involved in stress- and trauma-related manifestation of anxiety and depression.
Title: Expression of the PPM1F Gene Is Regulated by Stress and Associated With Anxiety and Depression.
our findings demonstrated that low expression of miR-490-3p or high expression of PPM1F was positively associated with poor survival and tumor recurrence in patients with HCC, and miR-490-3p suppressed cell proliferation and invasion by targeting PPM1F.
Title: CircSLC3A2 functions as an oncogenic factor in hepatocellular carcinoma by sponging miR-490-3p and regulating PPM1F expression.
PPM1F overexpression suppressed cell proliferation and invasion and counteracted the tumour-promoting role of miR-590, but PPM1F knockdown reversed these effects.
Title: Loss of PPM1F expression predicts tumour recurrence and is negatively regulated by miR-590-3p in gastric cancer.
POPX2 is a negative regulator of TAK1 signaling pathway and modulates apoptosis through the regulation of TAK1 activity.
Title: POPX2 phosphatase regulates apoptosis through the TAK1-IKK-NF-κB pathway.
PPM1F could work downstream of alpha9-nAchR to promote nicotine-induced carcinogenic signals. Thus, PPM1F expression could be used for prognostic diagnosis, or inhibited as a potential strategy for cancer prevention and therapy.
Title: Protein phosphatase Mg2+/Mn2+ dependent 1F promotes smoking-induced breast cancer by inactivating phosphorylated-p53-induced signals.

Submit: New GeneRIF Correction See all GeneRIFs (21)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Molecular genetics of adult ADHD: converging evidence from genome-wide association and extended pedigree linkage studies. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	Microarray analysis indicates HIV-1 Tat downregulates the expression of many proteins, including protein phosphatase 1F (KIAA0015), in immature dendritic cells, an effect that likely facilitates the expansion of HIV-1 infection	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

A005T48 (e-PCR)
- UniSTS:77849

RH25254 (e-PCR)
- UniSTS:37158

RH45391 (e-PCR)
- UniSTS:40498

G10648 (e-PCR)
- UniSTS:26477

PPM1F_8970 (e-PCR)
- UniSTS:468111

STS-N27859 (e-PCR)
- UniSTS:44445

D22S1264 (e-PCR)
- UniSTS:2980

SHGC-58507 (e-PCR)
- UniSTS:94374

NIB721 (e-PCR)
- UniSTS:73657

RH102668 (e-PCR)
- UniSTS:97002

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables MAP kinase serine/threonine phosphatase activity	IEA Inferred from Electronic Annotation more info
enables RNA polymerase II CTD heptapeptide repeat S2 phosphatase activity	IEA Inferred from Electronic Annotation more info
enables RNA polymerase II CTD heptapeptide repeat S5 phosphatase activity	IEA Inferred from Electronic Annotation more info
enables RNA polymerase II CTD heptapeptide repeat S7 phosphatase activity	IEA Inferred from Electronic Annotation more info
enables RNA polymerase II CTD heptapeptide repeat T4 phosphatase activity	IEA Inferred from Electronic Annotation more info
enables RNA polymerase II CTD heptapeptide repeat Y1 phosphatase activity	IEA Inferred from Electronic Annotation more info
enables calmodulin-dependent protein phosphatase activity	IDA Inferred from Direct Assay more info	PubMed
enables histone H2AXS140 phosphatase activity	IEA Inferred from Electronic Annotation more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables myosin phosphatase activity	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein serine/threonine phosphatase activity	IDA Inferred from Direct Assay more info	PubMed
enables protein serine/threonine phosphatase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables protein tyrosine/serine/threonine phosphatase activity	IMP Inferred from Mutant Phenotype more info	PubMed

Process	Evidence Code	Pubs
involved_in cellular response to xenobiotic stimulus	IDA Inferred from Direct Assay more info	PubMed
involved_in chromatin remodeling	IEA Inferred from Electronic Annotation more info
involved_in intrinsic apoptotic signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of DNA-templated transcription	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of cell-cell adhesion mediated by cadherin	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of peptidyl-serine phosphorylation	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of protein kinase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of protein kinase activity by regulation of protein phosphorylation	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of protein transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in peptidyl-serine dephosphorylation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in peptidyl-threonine dephosphorylation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of cell migration	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of cell-substrate adhesion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of chemotaxis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of cysteine-type endopeptidase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of epithelial cell migration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of focal adhesion assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of growth	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of stress fiber assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of stress fiber assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of stress fiber assembly	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of stress fiber assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of protein localization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info
involved_in signal transduction	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in perinuclear region of cytoplasm	IEA Inferred from Electronic Annotation more info
part_of protein-containing complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: protein phosphatase 1F

Names: Ca(2+)/calmodulin-dependent protein kinase phosphatase; CaM-kinase phosphatase; PP2C phosphatase; partner of PIX 2; protein fem-2 homolog; protein phosphatase 1F (PP2C domain containing)

NP_001397765.1

EC 3.1.3.16

NP_055449.1

EC 3.1.3.16

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001410836.1 → NP_001397765.1 protein phosphatase 1F isoform 2

Status: REVIEWED

Source sequence(s)

AC245452

Consensus CDS

CCDS93128.1

UniProtKB/TrEMBL

B5MCT7

Related

ENSP00000384930.1, ENST00000407142.5
NM_014634.4 → NP_055449.1 protein phosphatase 1F isoform 1

Status: REVIEWED

Source sequence(s)

AC245452, AK291628, N34773

Consensus CDS

CCDS13796.1

UniProtKB/Swiss-Prot

A8K6G3, B7Z2C3, P49593, Q96PM2

UniProtKB/TrEMBL

Q6IPC0

Related

ENSP00000263212.5, ENST00000263212.10

Conserved Domains (1) summary

pfam00481
Location:155 → 406

PP2C; Protein phosphatase 2C