Aliases for PPM1H Gene

Aliases for PPM1H Gene

  • Protein Phosphatase, Mg2+/Mn2+ Dependent 1H 2 3 5
  • Neurite Extension-Related Protein Phosphatase Related To PP2C 2 3
  • Protein Phosphatase 1H (PP2C Domain Containing) 2 3
  • Ras Homolog Gene Family, Member C Like 1 2 3
  • Protein Phosphatase 1H 3 4
  • EC 3.1.3.16 4 52
  • ARHCL1 3 4
  • URCC2 3 4
  • Protein Phosphatase, Mg2+/Mn2+ Dependent, 1H 2
  • NERPP-2C 3
  • KIAA1157 4

External Ids for PPM1H Gene

Previous HGNC Symbols for PPM1H Gene

  • ARHCL1

Previous GeneCards Identifiers for PPM1H Gene

  • GC12M061324
  • GC12M063037
  • GC12M060087

Summaries for PPM1H Gene

GeneCards Summary for PPM1H Gene

PPM1H (Protein Phosphatase, Mg2+/Mn2+ Dependent 1H) is a Protein Coding gene. Diseases associated with PPM1H include Multiple Endocrine Neoplasia, Type Iv and Attention Deficit-Hyperactivity Disorder. Gene Ontology (GO) annotations related to this gene include phosphoprotein phosphatase activity. An important paralog of this gene is PPM1J.

UniProtKB/Swiss-Prot Summary for PPM1H Gene

  • Dephosphorylates CDKN1B at 'Thr-187', thus removing a signal for proteasomal degradation.

Additional gene information for PPM1H Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PPM1H Gene

Genomics for PPM1H Gene

GeneHancer (GH) Regulatory Elements for PPM1H Gene

Promoters and enhancers for PPM1H Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J062933 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 500.7 +0.8 753 3.2 EP300 ZNF217 CTCF MYC TCF12 USF1 POLR2G TEAD4 ZFX ZNF639 ENSG00000252660 PPM1H hsa-miR-5095-093 RXYLT1
GH12J062936 Promoter/Enhancer 0.6 Ensembl dbSUPER 500.7 -1.0 -951 0.2 FOXA1 ENSG00000252660 PPM1H ENSG00000257779 RPL14P1
GH12J062910 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 29.9 +20.6 20550 8 ZNF217 CTCF USF1 PHB2 SIX5 ZBTB11 AFF1 TARDBP REST HES1 PPM1H ENSG00000252660 RNU1-83P piR-50444-080 hsa-miR-5095-093
GH12J062898 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 22.4 +34.1 34050 7.4 FOXK2 ZNF217 NCOR1 KDM6A TCF7 AFF1 RFX1 CUX1 TGIF2 SKI piR-50444-080 PPM1H ENSG00000252660 RNU1-83P RF00003-020
GH12J062859 Enhancer 1.1 FANTOM5 Ensembl ENCODE 13.7 +73.6 73550 6.4 JUND FOS TRIM28 ATF2 ZNF341 ZNF316 ZBTB17 IRF1 FOSL2 CEBPB PPM1H ENSG00000252660 RNU1-83P RF00003-020 LOC105369795 piR-50444-080
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PPM1H on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PPM1H

Top Transcription factor binding sites by QIAGEN in the PPM1H gene promoter:
  • AML1a
  • En-1
  • FOXF2
  • FOXO1
  • FOXO1a
  • HEN1
  • ISGF-3
  • Pbx1a
  • RORalpha2
  • YY1

Genomic Locations for PPM1H Gene

Genomic Locations for PPM1H Gene
chr12:62,643,982-62,935,150
(GRCh38/hg38)
Size:
291,169 bases
Orientation:
Minus strand
chr12:63,037,762-63,328,817
(GRCh37/hg19)
Size:
291,056 bases
Orientation:
Minus strand

Genomic View for PPM1H Gene

Genes around PPM1H on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PPM1H Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PPM1H Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PPM1H Gene

Proteins for PPM1H Gene

  • Protein details for PPM1H Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9ULR3-PPM1H_HUMAN
    Recommended name:
    Protein phosphatase 1H
    Protein Accession:
    Q9ULR3
    Secondary Accessions:
    • B1Q2A9
    • B2RXG4
    • Q6PI86

    Protein attributes for PPM1H Gene

    Size:
    514 amino acids
    Molecular mass:
    56448 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • May act as a suppressor of trastuzumab resistance.

neXtProt entry for PPM1H Gene

Selected DME Specific Peptides for PPM1H Gene

Q9ULR3:
  • NMTGWAYK
  • RPILILKE
  • DLKFPLIYGEGKKARV
  • LKDRGWRI
  • TRGLGDHDLKVHDS
  • GAPGSPSTPPTRFFTEKKIPHECLVIGALE
  • TGYAEVINAGKSTHNEDQASCEV
  • DLPLRFPY
  • FTHLEFPRRV
  • AAQDLVM
  • EFTPETERQR
  • LGSGDDISV
  • GEGKKARVMATIGVTRGLGDH
  • FMGGIMAGSSG
  • ANAGDSR
  • LPWATGYAEVINAGKS
  • RNGEIIPMS

Post-translational modifications for PPM1H Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PPM1H Gene

Domains & Families for PPM1H Gene

Gene Families for PPM1H Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for PPM1H Gene

Suggested Antigen Peptide Sequences for PPM1H Gene

GenScript: Design optimal peptide antigens:
  • URCC2 protein (B1Q2A9_HUMAN)
  • Protein phosphatase 1H (PPM1H_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9ULR3

UniProtKB/Swiss-Prot:

PPM1H_HUMAN :
  • Belongs to the PP2C family.
Family:
  • Belongs to the PP2C family.
genes like me logo Genes that share domains with PPM1H: view

Function for PPM1H Gene

Molecular function for PPM1H Gene

UniProtKB/Swiss-Prot Function:
Dephosphorylates CDKN1B at 'Thr-187', thus removing a signal for proteasomal degradation.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H2O + O-phospho-L-seryl-[protein] = L-seryl-[protein] + phosphate; Xref=Rhea:RHEA:20629, Rhea:RHEA-COMP:9863, Rhea:RHEA-COMP:11604, ChEBI:CHEBI:15377, ChEBI:CHEBI:29999, ChEBI:CHEBI:43474, ChEBI:CHEBI:83421; EC=3.1.3.16;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H2O + O-phospho-L-threonyl-[protein] = L-threonyl-[protein] + phosphate; Xref=Rhea:RHEA:47004, Rhea:RHEA-COMP:11060, Rhea:RHEA-COMP:11605, ChEBI:CHEBI:15377, ChEBI:CHEBI:30013, ChEBI:CHEBI:43474, ChEBI:CHEBI:61977; EC=3.1.3.16;.

Enzyme Numbers (IUBMB) for PPM1H Gene

Phenotypes From GWAS Catalog for PPM1H Gene

Gene Ontology (GO) - Molecular Function for PPM1H Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004721 phosphoprotein phosphatase activity IMP 22586611
GO:0004722 protein serine/threonine phosphatase activity IBA 21873635
GO:0004724 magnesium-dependent protein serine/threonine phosphatase activity IBA 21873635
GO:0004741 [pyruvate dehydrogenase (lipoamide)] phosphatase activity IBA 21873635
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with PPM1H: view
genes like me logo Genes that share phenotypes with PPM1H: view

Animal Model Products

  • Taconic Biosciences Mouse Models for PPM1H

Clone Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PPM1H Gene

Localization for PPM1H Gene

Subcellular locations from UniProtKB/Swiss-Prot for PPM1H Gene

Nucleus. Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PPM1H gene
Compartment Confidence
nucleus 5
mitochondrion 4
plasma membrane 2
extracellular 1
cytoskeleton 1
peroxisome 1
cytosol 1
golgi apparatus 1
endoplasmic reticulum 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for PPM1H Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 22586611
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA,IEA 22586611
GO:0005739 mitochondrion IBA 21873635
GO:0045202 synapse IEA --
genes like me logo Genes that share ontologies with PPM1H: view

Pathways & Interactions for PPM1H Gene

PathCards logo

SuperPathways for PPM1H Gene

No Data Available

Gene Ontology (GO) - Biological Process for PPM1H Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006470 protein dephosphorylation IEA --
GO:1904184 positive regulation of pyruvate dehydrogenase activity IBA 21873635
genes like me logo Genes that share ontologies with PPM1H: view

No data available for Pathways by source and SIGNOR curated interactions for PPM1H Gene

Drugs & Compounds for PPM1H Gene

(2) Drugs for PPM1H Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
Water Approved Pharma 0

(1) Additional Compounds for PPM1H Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Phosphate
  • [po(OH)3]
  • Acide phosphorique
  • Acidum phosphoricum
  • H3PO4
  • Orthophosphoric acid
14066-19-4, 14265-44-2
genes like me logo Genes that share compounds with PPM1H: view

Transcripts for PPM1H Gene

mRNA/cDNA for PPM1H Gene

1 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PPM1H Gene

No ASD Table

Relevant External Links for PPM1H Gene

GeneLoc Exon Structure for
PPM1H

Expression for PPM1H Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PPM1H Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PPM1H Gene

This gene is overexpressed in Brain - Cerebellar Hemisphere (x6.5) and Brain - Cerebellum (x5.4).

Protein differential expression in normal tissues from HIPED for PPM1H Gene

This gene is overexpressed in Frontal cortex (35.7) and Retina (10.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PPM1H Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PPM1H

SOURCE GeneReport for Unigene cluster for PPM1H Gene:

Hs.435479

Evidence on tissue expression from TISSUES for PPM1H Gene

  • Nervous system(4.6)
genes like me logo Genes that share expression patterns with PPM1H: view

No data available for Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for PPM1H Gene

Orthologs for PPM1H Gene

This gene was present in the common ancestor of animals.

Orthologs for PPM1H Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PPM1H 31 30
  • 99.81 (n)
OneToOne
cow
(Bos Taurus)
Mammalia PPM1H 31 30
  • 93 (n)
OneToOne
dog
(Canis familiaris)
Mammalia PPM1H 31 30
  • 92.2 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Ppm1h 17 31 30
  • 90.12 (n)
rat
(Rattus norvegicus)
Mammalia Ppm1h 30
  • 90.06 (n)
oppossum
(Monodelphis domestica)
Mammalia PPM1H 31
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PPM1H 31
  • 70 (a)
OneToOne
chicken
(Gallus gallus)
Aves PPM1H 31 30
  • 81.41 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PPM1H 31
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ppm1h 30
  • 74.72 (n)
zebrafish
(Danio rerio)
Actinopterygii ppm1h 31 30
  • 68.12 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG17598 31
  • 29 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea C42C1.2 31 30
  • 48.4 (n)
OneToMany
Species where no ortholog for PPM1H was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PPM1H Gene

ENSEMBL:
Gene Tree for PPM1H (if available)
TreeFam:
Gene Tree for PPM1H (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PPM1H: view image

Paralogs for PPM1H Gene

(3) SIMAP similar genes for PPM1H Gene using alignment to 1 proteins:

  • PPM1H_HUMAN
genes like me logo Genes that share paralogs with PPM1H: view

Variants for PPM1H Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PPM1H Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
788435 Benign: not provided 62,801,959(-) T/G MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for PPM1H Gene

Structural Variations from Database of Genomic Variants (DGV) for PPM1H Gene

Variant ID Type Subtype PubMed ID
esv2286763 CNV deletion 18987734
esv2485179 CNV deletion 19546169
esv2745969 CNV deletion 23290073
esv3549304 CNV deletion 23714750
esv3580291 CNV loss 25503493
esv5185 CNV loss 18987735
nsv1160038 CNV deletion 26073780
nsv516508 CNV loss 19592680
nsv524555 CNV gain 19592680
nsv527742 CNV loss 19592680
nsv53660 CNV deletion 16902084
nsv559157 CNV gain 21841781
nsv741 CNV deletion 18451855
nsv975503 CNV duplication 23825009
nsv983336 CNV duplication 23825009
nsv983337 CNV duplication 23825009

Variation tolerance for PPM1H Gene

Residual Variation Intolerance Score: 34.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.63; 31.34% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PPM1H Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PPM1H

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PPM1H Gene

Disorders for PPM1H Gene

MalaCards: The human disease database

(2) MalaCards diseases for PPM1H Gene - From: DISEASES and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search PPM1H in MalaCards View complete list of genes associated with diseases

Additional Disease Information for PPM1H

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with PPM1H: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PPM1H Gene

Publications for PPM1H Gene

  1. PPM1H is a p27 phosphatase implicated in trastuzumab resistance. (PMID: 22586611) Lee-Hoeflich ST … Stern HM (Cancer discovery 2011) 3 4 54
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41 54
  3. Trait-stratified genome-wide association study identifies novel and diverse genetic associations with serologic and cytokine phenotypes in systemic lupus erythematosus. (PMID: 20659327) Kariuki SN … Niewold TB (Arthritis research & therapy 2010) 3 41 54
  4. Case-control genome-wide association study of attention-deficit/hyperactivity disorder. (PMID: 20732627) Neale BM … IMAGE II Consortium Group (Journal of the American Academy of Child and Adolescent Psychiatry 2010) 3 41 54
  5. Protein phosphatase 1H, overexpressed in colon adenocarcinoma, is associated with CSE1L. (PMID: 18059182) Sugiura T … Hattori C (Cancer biology & therapy 2008) 3 23 54

Products for PPM1H Gene

Sources for PPM1H Gene