Aliases for PPTC7 Gene

Aliases for PPTC7 Gene

  • Protein Phosphatase Targeting COQ7 2 3 5
  • TA-PP2C 2 3 4
  • Protein Phosphatase PTC7 Homolog 3 4
  • EC 3.1.3.16 4 51
  • TAPP2C 3 4
  • PTC7 Protein Phosphatase Homolog (S. Cerevisiae) 2
  • T-Cell Activation Protein Phosphatase 2C-Like 4
  • T Cell Activation Protein Phosphatase 2C 2
  • T-Cell Activation Protein Phosphatase 2C 4
  • PTC7 Protein Phosphatase Homolog 3
  • PPTC7 5

External Ids for PPTC7 Gene

Previous GeneCards Identifiers for PPTC7 Gene

  • GC12M109456
  • GC12M110972
  • GC12M107991

Summaries for PPTC7 Gene

GeneCards Summary for PPTC7 Gene

PPTC7 (Protein Phosphatase Targeting COQ7) is a Protein Coding gene. Among its related pathways are Development Dopamine D2 receptor transactivation of EGFR and Regulation of CFTR activity (norm and CF). Gene Ontology (GO) annotations related to this gene include phosphoprotein phosphatase activity.

UniProtKB/Swiss-Prot Summary for PPTC7 Gene

  • Protein phosphatase which positively regulates biosynthesis of the ubiquinone, coenzyme Q (PubMed:30267671). Dephosphorylates the ubiquinone biosynthesis protein COQ7 which is likely to lead to its activation (PubMed:30267671).

Additional gene information for PPTC7 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PPTC7 Gene

Genomics for PPTC7 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PPTC7 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
GH12J110580 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 604.2 -0.2 -205 5.4 HNRNPL PRDM10 SIX5 POLR2A RCOR2 BACH1 JUND LARP7 ZNF143 RELA PPTC7 MYL2 FAM216A ATP2A2 GPN3 GLTP ARPC3 lnc-TCTN1-1 TCTN1
GH12J110589 Enhancer 1.7 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 10.5 -7.6 -7583 6.6 GATAD2A REST TFE3 RFX1 SOX13 RCOR2 BACH1 PRDM1 PKNOX1 RXRB GPN3 FAM216A IFT81 ARPC3 TCTN1 PPTC7 ANAPC7 HVCN1 lnc-TCTN1-1
GH12J110555 Enhancer 0.8 ENCODE dbSUPER 13.1 +27.3 27343 1.8 PRDM1 SCRT2 SMARCC1 CEBPB BCL11A ZBTB17 SCRT1 ZNF184 ESR1 BHLHE40 RF00017-1266 GPN3 PPTC7 TCTN1 FAM216A piR-52261-069 VPS29
GH12J111055 Enhancer 1.7 VISTA UCNEbase FANTOM5 ENCODE 5.7 -473.9 -473873 2.9 CREB1 ETV6 GABPA ZNF776 PKNOX1 ZNF600 KLF9 SP2 ELK1 CTBP1 ADAM1A ATXN2 IFT81 MAPKAPK5 PCNPP1 CUX2 BRAP ATXN2-AS ANAPC7 MYL2
GH12J110552 Enhancer 0.7 ENCODE 13.1 +30.8 30817 0.2 GATAD2A CTCF RXRB REST RAD21 IRF2 TRIM22 CEBPA SOX13 CEBPB RF00017-1266 PPTC7 TCTN1 piR-48759-069 VPS29
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PPTC7 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PPTC7

Top Transcription factor binding sites by QIAGEN in the PPTC7 gene promoter:
  • AP-1
  • Bach1
  • c-Fos
  • c-Jun
  • Evi-1
  • FOXO4
  • MyoD
  • MZF-1
  • NCX
  • RORalpha1

Genomic Locations for PPTC7 Gene

Genomic Locations for PPTC7 Gene
chr12:110,533,245-110,583,318
(GRCh38/hg38)
Size:
50,074 bases
Orientation:
Minus strand
chr12:110,969,120-111,021,125
(GRCh37/hg19)
Size:
52,006 bases
Orientation:
Minus strand

Genomic View for PPTC7 Gene

Genes around PPTC7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PPTC7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PPTC7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PPTC7 Gene

Proteins for PPTC7 Gene

  • Protein details for PPTC7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NI37-PPTC7_HUMAN
    Recommended name:
    Protein phosphatase PTC7 homolog
    Protein Accession:
    Q8NI37
    Secondary Accessions:
    • B3KWC5
    • Q68DZ7
    • Q6UY82

    Protein attributes for PPTC7 Gene

    Size:
    304 amino acids
    Molecular mass:
    32646 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Cofactor:
    Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    No Data Available

neXtProt entry for PPTC7 Gene

Selected DME Specific Peptides for PPTC7 Gene

Q8NI37:
  • ELLQNKVPLLGSSTAC
  • GEVVHRSDEQQHYFNTPFQLSIAPPEAEG
  • LAYDPNYMSPFAQFACD
  • VLSDSPDAADS
  • GVADGVG
  • TLMRTCERLVKEGRFVP
  • TDGLFDN
  • GRLVARAV
  • NLGDSGF
  • GGKPDDIT

Post-translational modifications for PPTC7 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PPTC7 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for PPTC7 Gene

Gene Families for PPTC7 Gene

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

Protein Domains for PPTC7 Gene

Suggested Antigen Peptide Sequences for PPTC7 Gene

GenScript: Design optimal peptide antigens:
  • T-cell activation protein phosphatase 2C-like (PPTC7_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8NI37

UniProtKB/Swiss-Prot:

PPTC7_HUMAN :
  • Belongs to the PP2C family.
Family:
  • Belongs to the PP2C family.
genes like me logo Genes that share domains with PPTC7: view

Function for PPTC7 Gene

Molecular function for PPTC7 Gene

UniProtKB/Swiss-Prot Function:
Protein phosphatase which positively regulates biosynthesis of the ubiquinone, coenzyme Q (PubMed:30267671). Dephosphorylates the ubiquinone biosynthesis protein COQ7 which is likely to lead to its activation (PubMed:30267671).
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; Evidence={ECO:0000255|PROSITE-ProRule:PRU01082};.
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; Evidence={ECO:0000269|PubMed:30267671};.
UniProtKB/Swiss-Prot Induction:
By hydrogen peroxide and nutrional stress (such as low glucose) (PubMed:30267671). Up-regulated during lymphocyte activation (PubMed:15177553).
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by sodium orthovanadate.

Enzyme Numbers (IUBMB) for PPTC7 Gene

Phenotypes From GWAS Catalog for PPTC7 Gene

Gene Ontology (GO) - Molecular Function for PPTC7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
GO:0004721 phosphoprotein phosphatase activity IEA --
GO:0004722 protein serine/threonine phosphatase activity IMP 30267671
GO:0005515 protein binding IPI 27499296
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with PPTC7: view
genes like me logo Genes that share phenotypes with PPTC7: view

Animal Models for PPTC7 Gene

MGI Knock Outs for PPTC7:
  • Pptc7 Pptc7<tm1b(EUCOMM)Hmgu>

Animal Model Products

CRISPR Products

miRNA for PPTC7 Gene

miRTarBase miRNAs that target PPTC7

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PPTC7

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PPTC7 Gene

Localization for PPTC7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PPTC7 Gene

Mitochondrion matrix.

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 PPTC7 gene
Compartment Confidence
mitochondrion 4
plasma membrane 2
cytosol 2
extracellular 1
peroxisome 1
nucleus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PPTC7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IBA 21873635
GO:0005759 mitochondrial matrix IMP 30267671
genes like me logo Genes that share ontologies with PPTC7: view

Pathways & Interactions for PPTC7 Gene

PathCards logo

SuperPathways for PPTC7 Gene

SuperPathway Contained pathways
1 Development Dopamine D2 receptor transactivation of EGFR
.41
2 Regulation of CFTR activity (norm and CF)
.38
genes like me logo Genes that share pathways with PPTC7: view

Pathways by source for PPTC7 Gene

2 GeneGo (Thomson Reuters) pathways for PPTC7 Gene
  • Apoptosis and survival BAD phosphorylation
  • Regulation of CFTR activity (norm and CF)

Gene Ontology (GO) - Biological Process for PPTC7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0010795 regulation of ubiquinone biosynthetic process IMP 30267671
GO:0070262 peptidyl-serine dephosphorylation IMP 30267671
genes like me logo Genes that share ontologies with PPTC7: view

No data available for SIGNOR curated interactions for PPTC7 Gene

Drugs & Compounds for PPTC7 Gene

(4) Drugs for PPTC7 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Magnesium Approved, Experimental, Investigational Pharma 0
Phosphoric acid Approved Pharma 0
Water Approved Pharma 0
Manganese Approved Nutra 56
genes like me logo Genes that share compounds with PPTC7: view

Transcripts for PPTC7 Gene

mRNA/cDNA for PPTC7 Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PPTC7

Alternative Splicing Database (ASD) splice patterns (SP) for PPTC7 Gene

No ASD Table

Relevant External Links for PPTC7 Gene

GeneLoc Exon Structure for
PPTC7

Expression for PPTC7 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PPTC7 Gene

mRNA differential expression in normal tissues according to GTEx for PPTC7 Gene

This gene is overexpressed in Muscle - Skeletal (x7.6).

Protein differential expression in normal tissues from HIPED for PPTC7 Gene

This gene is overexpressed in Heart (33.7) and CD8 Tcells (8.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PPTC7 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PPTC7

SOURCE GeneReport for Unigene cluster for PPTC7 Gene:

Hs.13854

mRNA Expression by UniProt/SwissProt for PPTC7 Gene:

Q8NI37-PPTC7_HUMAN
Tissue specificity: Expressed in keratinocytes (at protein level).

Evidence on tissue expression from TISSUES for PPTC7 Gene

  • Nervous system(4.3)
  • Muscle(2.2)
genes like me logo Genes that share expression patterns with PPTC7: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for PPTC7 Gene

Orthologs for PPTC7 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PPTC7 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia PPTC7 30 31
  • 99.56 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia PPTC7 31
  • 99 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia PPTC7 31
  • 96 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia PPTC7 30 31
  • 94.08 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia PPTC7 30 31
  • 93.75 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Pptc7 30 17 31
  • 89.14 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Pptc7 30
  • 89.04 (n)
Chicken
(Gallus gallus)
Aves PPTC7 30 31
  • 83.61 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia PPTC7 31
  • 97 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia pptc7 30
  • 79.12 (n)
Zebrafish
(Danio rerio)
Actinopterygii pptc7a 31
  • 94 (a)
OneToMany
pptc7b 30 31
  • 76.54 (n)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta CG12091 30 31
  • 56.82 (n)
OneToMany
fig 31
  • 39 (a)
OneToMany
CG15035 31
  • 37 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002141 30
  • 52.99 (n)
Worm
(Caenorhabditis elegans)
Secernentea W09D10.4 30 31
  • 51.16 (n)
OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PTC7 30 31 33
  • 46.3 (n)
OneToOne
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D13134g 30
  • 45.64 (n)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT4G16580 30
  • 48.34 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.2135 31
  • 64 (a)
OneToOne
Bread mold
(Neurospora crassa)
Ascomycetes NCU00958 30
  • 48.02 (n)
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes azr1 30
  • 44.88 (n)
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.2504 30
Species where no ortholog for PPTC7 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • 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 Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for PPTC7 Gene

ENSEMBL:
Gene Tree for PPTC7 (if available)
TreeFam:
Gene Tree for PPTC7 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PPTC7: view image

Paralogs for PPTC7 Gene

No data available for Paralogs for PPTC7 Gene

Variants for PPTC7 Gene

Additional dbSNP identifiers (rs#s) for PPTC7 Gene

Variation tolerance for PPTC7 Gene

Residual Variation Intolerance Score: 41.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.68; 65.98% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PPTC7 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PPTC7

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP and Structural Variations from Database of Genomic Variants (DGV) for PPTC7 Gene

Disorders for PPTC7 Gene

Additional Disease Information for PPTC7

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform

No disorders were found for PPTC7 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for PPTC7 Gene

Publications for PPTC7 Gene

  1. The mitochondrial phosphatase PPTC7 orchestrates mitochondrial metabolism regulating coenzyme Q10 biosynthesis. (PMID: 30267671) González-Mariscal I … Santos-Ocana C (Biochimica et biophysica acta. Bioenergetics 2018) 2 3 4
  2. T lymphocyte activation gene identification by coregulated expression on DNA microarrays. (PMID: 15177553) Mao M … Linsley PS (Genomics 2004) 2 3 4
  3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 41
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  5. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3

Products for PPTC7 Gene

Sources for PPTC7 Gene