PPM1H protein phosphatase, Mg2+/Mn2+ dependent 1H [Homo sapiens (human)] - Gene

Summary

Official Symbol: PPM1Hprovided by HGNC
Official Full Name: protein phosphatase, Mg2+/Mn2+ dependent 1Hprovided by HGNC
Primary source: HGNC:HGNC:18583
See related: Ensembl:ENSG00000111110 MIM:616016; AllianceGenome:HGNC:18583
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: URCC2; ARHCL1; NERPP-2C
Summary: Enables identical protein binding activity and phosphoprotein phosphatase activity. Predicted to be involved in protein dephosphorylation. Located in cytoplasm and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in brain (RPKM 7.7), prostate (RPKM 6.7) and 23 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 12q14.1-q14.2

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (62643994..62935150, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (62622756..62913942, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (63037774..63328930, complement)

Chromosome 12 - NC_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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?

Localization of PPM1H phosphatase tunes Parkinson's disease-linked LRRK2 kinase-mediated Rab GTPase phosphorylation and ciliogenesis.
Title: Localization of PPM1H phosphatase tunes Parkinson's disease-linked LRRK2 kinase-mediated Rab GTPase phosphorylation and ciliogenesis.
Regulatory imbalance between LRRK2 kinase, PPM1H phosphatase, and ARF6 GTPase disrupts the axonal transport of autophagosomes.
Title: Regulatory imbalance between LRRK2 kinase, PPM1H phosphatase, and ARF6 GTPase disrupts the axonal transport of autophagosomes.
PPM1H is an independent prognostic biomarker of non-small cell lung cancer.
Title: PPM1H is an independent prognostic biomarker of non-small cell lung cancer.
PPM1H acts as a key modulator of LRRK2 signaling by controlling dephosphorylation of Rab proteins
Title: PPM1H phosphatase counteracts LRRK2 signaling by selectively dephosphorylating Rab proteins.
Lack of tumour PPM1H expression identifies a patient subgroup with a high relapse risk, and CRC cells with low expression of PPM1H activate cancer-association fibroblasts (CAFs) and inversely get promoted by CAFs.
Title: Low tumour PPM1H indicates poor prognosis in colorectal cancer via activation of cancer-associated fibroblasts.
PPM1H may be a new tumor-suppressor factor for pancreatic cancer and provides new insight into molecular targets for gene therapy of pancreatic cancer
Title: Effect of PPM1H on malignant phenotype of human pancreatic cancer cells.
PPM1H acts as a gatekeeper to prevent excessive BMP signaling through dephosphorylation and subsequent nuclear exclusion of P-Smad1/5/8 proteins.
Title: Specific control of BMP signaling and mesenchymal differentiation by cytoplasmic phosphatase PPM1H.
Knockdown of the serine/threonine phosphatase PPM1H confers trastuzumab resistance via reduction in protein levels of the tumor suppressor p27.
Title: PPM1H is a p27 phosphatase implicated in trastuzumab resistance.
Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
Title: Case-control genome-wide association study of attention-deficit/hyperactivity disorder.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.

Submit: New GeneRIF Correction See all GeneRIFs (11)

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
Genome-wide association study of anthropometric traits and evidence of interactions with age and study year in Filipino women. EBI GWAS Catalog EBI GWAS CatalogPubMed
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. 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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D12S2134 (e-PCR)
- UniSTS:32779

D8S2279 (e-PCR)
- UniSTS:473907

G64391 (e-PCR)
- UniSTS:163663

G64494 (e-PCR)
- UniSTS:163664

G64493 (e-PCR)
- UniSTS:163666

D12S2035 (e-PCR)
- UniSTS:80490

D15S1477 (e-PCR)
- UniSTS:474482

D12S1437 (e-PCR)
- UniSTS:78714

G64392 (e-PCR)
- UniSTS:163970

SHGC-85771 (e-PCR)
- UniSTS:182661

D12S329 (e-PCR), detects polymorphism
- UniSTS:65946

D12S2118 (e-PCR)
- UniSTS:17317

D12S862 (e-PCR)
- UniSTS:75196

STS-T79956 (e-PCR)
- UniSTS:3286

D12S1276 (e-PCR)
- UniSTS:53726

PMC128021P1 (e-PCR)
- UniSTS:270562

D12S329 (e-PCR), detects polymorphism
- UniSTS:4077

A006R05 (e-PCR)
- UniSTS:17649

PMC97911P1 (e-PCR)
- UniSTS:273660

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables [pyruvate dehydrogenase (acetyl-transferring)]-phosphatase activity	IBA Inferred from Biological aspect of Ancestor more info
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables myosin phosphatase activity	IEA Inferred from Electronic Annotation more info
enables phosphoprotein phosphatase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in protein dephosphorylation	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in glutamatergic synapse	IEA Inferred from Electronic Annotation more info
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: protein phosphatase 1H

Names: neurite extension-related protein phosphatase related to PP2C; protein phosphatase 1H (PP2C domain containing); ras homolog gene family, member C like 1

NP_065751.1

EC 3.1.3.16

XP_011536880.1

EC 3.1.3.16

XP_016875165.1

EC 3.1.3.16

XP_054228588.1

EC 3.1.3.16

XP_054228589.1

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_020700.2 → NP_065751.1 protein phosphatase 1H

See identical proteins and their annotated locations for NP_065751.1

Status: VALIDATED

Source sequence(s)

AB032983, AC048341, AC078814, DA396561

Consensus CDS

CCDS44934.1

UniProtKB/Swiss-Prot

B1Q2A9, B2RXG4, Q6PI86, Q9ULR3

Related

ENSP00000228705.5, ENST00000228705.7

Conserved Domains (1) summary

cd00143
Location:143 → 507

PP2Cc; Serine/threonine phosphatases, family 2C, catalytic domain; The protein architecture and deduced catalytic mechanism of PP2C phosphatases are similar to the PP1, PP2A, PP2B family of protein Ser/Thr phosphatases, with which PP2C shares no sequence ...

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000012.12 Reference GRCh38.p14 Primary Assembly

Range

62643994..62935150 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011538578.3 → XP_011536880.1 protein phosphatase 1H isoform X1

See identical proteins and their annotated locations for XP_011536880.1

Conserved Domains (1) summary

cd00143
Location:105 → 469

PP2Cc; Serine/threonine phosphatases, family 2C, catalytic domain; The protein architecture and deduced catalytic mechanism of PP2C phosphatases are similar to the PP1, PP2A, PP2B family of protein Ser/Thr phosphatases, with which PP2C shares no sequence ...
XM_017019676.3 → XP_016875165.1 protein phosphatase 1H isoform X2