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Aliases for PTPMT1 Gene

Aliases for PTPMT1 Gene

  • Protein Tyrosine Phosphatase, Mitochondrial 1 2 3 5
  • Phosphoinositide Lipid Phosphatase 3 4
  • PTEN-Like Phosphatase 3 4
  • MOSP 3 4
  • PLIP 3 4
  • Phosphatidylglycerophosphatase And Protein-Tyrosine Phosphatase 1 3
  • NB4 Apoptosis/Differentiation Related Protein 3
  • Protein-Tyrosine Phosphatase Mitochondrial 1 4
  • EC 3.1.3.27 4
  • EC 3.1.3.16 4
  • EC 3.1.3.48 4
  • PNAS-129 3
  • DUSP23 3

External Ids for PTPMT1 Gene

Previous GeneCards Identifiers for PTPMT1 Gene

  • GC11P047532
  • GC11U900934
  • GC11P047287

Summaries for PTPMT1 Gene

GeneCards Summary for PTPMT1 Gene

PTPMT1 (Protein Tyrosine Phosphatase, Mitochondrial 1) is a Protein Coding gene. Diseases associated with PTPMT1 include Cogan Syndrome. Among its related pathways are Glycerophospholipid biosynthesis and Metabolism. Gene Ontology (GO) annotations related to this gene include phosphatase activity and protein tyrosine/serine/threonine phosphatase activity.

UniProtKB/Swiss-Prot for PTPMT1 Gene

  • Lipid phosphatase which dephosphorylates phosphatidylglycerophosphate (PGP) to phosphatidylglycerol (PG). PGP is an essential intermediate in the biosynthetic pathway of cardiolipin, a mitochondrial-specific phospholipid regulating the membrane integrity and activities of the organelle. Has also been shown to display phosphatase activity toward phosphoprotein substrates, specifically mediates dephosphorylation of mitochondrial proteins, thereby playing an essential role in ATP production. Has probably a preference for proteins phosphorylated on Ser and/or Thr residues compared to proteins phosphorylated on Tyr residues. Probably involved in regulation of insulin secretion in pancreatic beta cells (By similarity).

Additional gene information for PTPMT1 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PTPMT1 Gene

Genomics for PTPMT1 Gene

GeneHancer (GH) Regulatory Elements for PTPMT1 Gene

Promoters and enhancers for PTPMT1 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
GH11J047564 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 650.7 +0.5 452 2.1 HDGF FOXA2 ARID4B SIN3A DMAP1 YY1 ZNF207 ZNF143 SP3 MXD4 NDUFS3 PTPMT1 CELF1 NUP160 FNBP4 ENSG00000270060 ZNF408 DDB2 C1QTNF4 ENSG00000255197
GH11J047521 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE dbSUPER 12.6 -41.2 -41214 4.8 HDGF PKNOX1 FEZF1 ZFP91 ATF7 FOS DEK JUNB GMEB1 SMARCA4 CELF1 C1QTNF4 NUP160 FNBP4 ENSG00000200090 NDUFS3 PTPMT1 AMBRA1 SLC39A13 FAM180B
GH11J047506 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 12.2 -51.8 -51849 14.4 HDGF PKNOX1 ZFP64 ZNF213 FOS JUNB ZC3H11A REST SREBF1 SMARCA4 ENSG00000270072 NUP160 FNBP4 ENSG00000200090 ENSG00000270060 C1QTNF4 CELF1 DDB2 ZNF408 AMBRA1
GH11J047537 Enhancer 1.2 Ensembl ENCODE dbSUPER 12.3 -26.0 -26037 4.4 PKNOX1 INSM2 KLF17 SIN3A FEZF1 ZNF2 RAD21 ZNF335 ZNF366 SCRT2 C1QTNF4 CELF1 NDUFS3 PTPMT1 KBTBD4 ENSG00000231880 RNU5E-10P MADD MTCH2 FNBP4
GH11J047498 Enhancer 1.1 Ensembl ENCODE dbSUPER 11.9 -65.9 -65945 1.4 FOXA2 TAF1 NFIB MAX RAD21 YY1 GATA3 POLR2A EGR1 HNF4G PTPMT1 CELF1 NDUFS3 RAPSN RNU5E-10P ENSG00000231880 KBTBD4 FAM180B C1QTNF4 MTCH2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PTPMT1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PTPMT1 gene promoter:
  • AP-1
  • MEF-2A
  • aMEF-2
  • c-Jun
  • ATF-2
  • C/EBPbeta

Genomic Locations for PTPMT1 Gene

Genomic Locations for PTPMT1 Gene
chr11:47,565,430-47,573,461
(GRCh38/hg38)
Size:
8,032 bases
Orientation:
Plus strand
chr11:47,586,982-47,595,013
(GRCh37/hg19)
Size:
8,032 bases
Orientation:
Plus strand

Genomic View for PTPMT1 Gene

Genes around PTPMT1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PTPMT1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PTPMT1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PTPMT1 Gene

Proteins for PTPMT1 Gene

  • Protein details for PTPMT1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8WUK0-PTPM1_HUMAN
    Recommended name:
    Phosphatidylglycerophosphatase and protein-tyrosine phosphatase 1
    Protein Accession:
    Q8WUK0
    Secondary Accessions:
    • E9PAT8
    • Q7Z557
    • Q96CR2
    • Q9BXV8

    Protein attributes for PTPMT1 Gene

    Size:
    201 amino acids
    Molecular mass:
    22844 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH14048.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAK07545.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for PTPMT1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PTPMT1 Gene

Post-translational modifications for PTPMT1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PTPMT1 Gene

No data available for DME Specific Peptides for PTPMT1 Gene

Domains & Families for PTPMT1 Gene

Gene Families for PTPMT1 Gene

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

Suggested Antigen Peptide Sequences for PTPMT1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8WUK0

UniProtKB/Swiss-Prot:

PTPM1_HUMAN :
  • Belongs to the protein-tyrosine phosphatase family. Non-receptor class dual specificity subfamily.
Family:
  • Belongs to the protein-tyrosine phosphatase family. Non-receptor class dual specificity subfamily.
genes like me logo Genes that share domains with PTPMT1: view

Function for PTPMT1 Gene

Molecular function for PTPMT1 Gene

UniProtKB/Swiss-Prot Function:
Lipid phosphatase which dephosphorylates phosphatidylglycerophosphate (PGP) to phosphatidylglycerol (PG). PGP is an essential intermediate in the biosynthetic pathway of cardiolipin, a mitochondrial-specific phospholipid regulating the membrane integrity and activities of the organelle. Has also been shown to display phosphatase activity toward phosphoprotein substrates, specifically mediates dephosphorylation of mitochondrial proteins, thereby playing an essential role in ATP production. Has probably a preference for proteins phosphorylated on Ser and/or Thr residues compared to proteins phosphorylated on Tyr residues. Probably involved in regulation of insulin secretion in pancreatic beta cells (By similarity).
UniProtKB/Swiss-Prot CatalyticActivity:
Phosphatidylglycerophosphate + H(2)O = phosphatidylglycerol + phosphate.
UniProtKB/Swiss-Prot CatalyticActivity:
Protein tyrosine phosphate + H(2)O = protein tyrosine + phosphate.
UniProtKB/Swiss-Prot CatalyticActivity:
[a protein]-serine/threonine phosphate + H(2)O = [a protein]-serine/threonine + phosphate.

Enzyme Numbers (IUBMB) for PTPMT1 Gene

Phenotypes From GWAS Catalog for PTPMT1 Gene

Gene Ontology (GO) - Molecular Function for PTPMT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004439 phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity IBA --
GO:0004721 phosphoprotein phosphatase activity IEA --
GO:0004725 protein tyrosine phosphatase activity IEA --
GO:0005515 protein binding IPI 21516116
GO:0008138 protein tyrosine/serine/threonine phosphatase activity IEA --
genes like me logo Genes that share ontologies with PTPMT1: view
genes like me logo Genes that share phenotypes with PTPMT1: view

Animal Models for PTPMT1 Gene

MGI Knock Outs for PTPMT1:

Animal Model Products

  • Taconic Biosciences Mouse Models for PTPMT1

miRNA for PTPMT1 Gene

Clone Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PTPMT1 Gene

Localization for PTPMT1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PTPMT1 Gene

Mitochondrion inner membrane. Note=Associated with the inner membrane. {ECO:0000250}.

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 PTPMT1 gene
Compartment Confidence
mitochondrion 5
nucleus 5
cytosol 3
plasma membrane 1
extracellular 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for PTPMT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus HDA 21630459
GO:0005737 cytoplasm IBA --
GO:0005739 mitochondrion IBA --
GO:0005743 mitochondrial inner membrane IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with PTPMT1: view

Pathways & Interactions for PTPMT1 Gene

genes like me logo Genes that share pathways with PTPMT1: view

Pathways by source for PTPMT1 Gene

UniProtKB/Swiss-Prot Q8WUK0-PTPM1_HUMAN

  • Pathway: Phospholipid metabolism; phosphatidylglycerol biosynthesis; phosphatidylglycerol from CDP-diacylglycerol: step 2/2.

Gene Ontology (GO) - Biological Process for PTPMT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006470 protein dephosphorylation IEA --
GO:0006629 lipid metabolic process IEA --
GO:0006655 phosphatidylglycerol biosynthetic process IEA --
GO:0008654 phospholipid biosynthetic process IEA --
GO:0016311 dephosphorylation IEA --
genes like me logo Genes that share ontologies with PTPMT1: view

No data available for SIGNOR curated interactions for PTPMT1 Gene

Drugs & Compounds for PTPMT1 Gene

(5) Drugs for PTPMT1 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
Water Approved Pharma 0
Alexidine dihydrochloride Pharma PTPMT1 inhibitor 0

(4) Additional Compounds for PTPMT1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
1-Phosphatidyl-D-myo-inositol
  • (3-Phosphatidyl)-1-D-inositol
  • 1,2-Diacyl-sn-glycero-3-phosphoinositol
  • 1-Phosphatidyl-1D-myo-inositol
  • 1-Phosphatidyl-myo-inositol
  • Phosphatidyl-1D-myo-inositol
Phosphate
  • [po(OH)3]
  • Acide phosphorique
  • Acidum phosphoricum
  • H3PO4
  • Orthophosphoric acid
14265-44-2
genes like me logo Genes that share compounds with PTPMT1: view

Transcripts for PTPMT1 Gene

mRNA/cDNA for PTPMT1 Gene

Unigene Clusters for PTPMT1 Gene

Protein tyrosine phosphatase, mitochondrial 1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PTPMT1 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4a · 4b · 4c · 4d ^ 5a · 5b · 5c · 5d ^ 6a · 6b ^ 7 ^ 8a · 8b · 8c ^ 9 ^ 10a · 10b ^ 11a · 11b
SP1: - -
SP2: - -
SP3:
SP4: -
SP5:
SP6: -
SP7:
SP8: -
SP9:
SP10: -

Relevant External Links for PTPMT1 Gene

GeneLoc Exon Structure for
PTPMT1
ECgene alternative splicing isoforms for
PTPMT1

Expression for PTPMT1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PTPMT1 Gene

Protein differential expression in normal tissues from HIPED for PTPMT1 Gene

This gene is overexpressed in Bone (22.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PTPMT1 Gene



Protein tissue co-expression partners for PTPMT1 Gene

NURSA nuclear receptor signaling pathways regulating expression of PTPMT1 Gene:

PTPMT1

SOURCE GeneReport for Unigene cluster for PTPMT1 Gene:

Hs.656205

Evidence on tissue expression from TISSUES for PTPMT1 Gene

  • Kidney(4.3)
  • Nervous system(2.8)
genes like me logo Genes that share expression patterns with PTPMT1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for PTPMT1 Gene

Orthologs for PTPMT1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PTPMT1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PTPMT1 34 33
  • 99.67 (n)
OneToOne
dog
(Canis familiaris)
Mammalia PTPMT1 34 33
  • 90.82 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Ptpmt1 16 33
  • 87.05 (n)
cow
(Bos Taurus)
Mammalia PTPMT1 34 33
  • 86.98 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ptpmt1 33
  • 86.7 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PTPMT1 34
  • 58 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PTPMT1 34
  • 33 (a)
OneToOne
chicken
(Gallus gallus)
Aves PTPMT1 34 33
  • 69.47 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PTPMT1 34
  • 56 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii ptpmt1 34 33
  • 59.7 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Plip 34 33
  • 56.98 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000617 33
  • 56 (n)
worm
(Caenorhabditis elegans)
Secernentea F28C6.8 34 33
  • 45.54 (n)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G56610 33
  • 46.78 (n)
rice
(Oryza sativa)
Liliopsida Os05g0524200 33
  • 49.43 (n)
Species where no ortholog for PTPMT1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for PTPMT1 Gene

ENSEMBL:
Gene Tree for PTPMT1 (if available)
TreeFam:
Gene Tree for PTPMT1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PTPMT1: view image

Paralogs for PTPMT1 Gene

No data available for Paralogs for PTPMT1 Gene

Variants for PTPMT1 Gene

Sequence variations from dbSNP and Humsavar for PTPMT1 Gene

SNP ID Clin Chr 11 pos Variation AA Info Type
rs1000200693 -- 47,565,230(+) G/A upstream_transcript_variant
rs1000305009 -- 47,571,536(+) C/T coding_sequence_variant, stop_gained, synonymous_variant
rs1001220785 -- 47,565,469(+) C/A 5_prime_UTR_variant
rs1001864637 -- 47,564,792(+) AAACAAACAAACAAA/AAACAAACAAA/AAACAAACAAACAAACAAA upstream_transcript_variant
rs1001981342 -- 47,573,244(+) A/C/G 3_prime_UTR_variant

Structural Variations from Database of Genomic Variants (DGV) for PTPMT1 Gene

Variant ID Type Subtype PubMed ID
nsv314 CNV deletion 18451855
nsv509405 CNV insertion 20534489
nsv825872 CNV gain 20364138
nsv832142 CNV loss 17160897

Variation tolerance for PTPMT1 Gene

Residual Variation Intolerance Score: 74.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.73; 15.54% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PTPMT1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PTPMT1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PTPMT1 Gene

Disorders for PTPMT1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for PTPMT1 Gene - From: GeneCards

Disorder Aliases PubMed IDs
cogan syndrome
  • cogan's syndrome
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for PTPMT1

genes like me logo Genes that share disorders with PTPMT1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PTPMT1 Gene

Publications for PTPMT1 Gene

  1. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  2. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 2 3 58
  3. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  4. Ptpmt1 induced by HIF-2α regulates the proliferation and glucose metabolism in erythroleukemia cells. (PMID: 26898802) Xu QQ … Ge RL (Biochemical and biophysical research communications 2016) 3 58
  5. Defining the Protein-Protein Interaction Network of the Human Protein Tyrosine Phosphatase Family. (PMID: 27432908) Li X … Wang W (Molecular & cellular proteomics : MCP 2016) 3 58

Products for PTPMT1 Gene

Sources for PTPMT1 Gene

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