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Aliases for PTPMT1 Gene

Aliases for PTPMT1 Gene

  • Protein Tyrosine Phosphatase, Mitochondrial 1 2 3 5
  • Protein-Tyrosine Phosphatase Mitochondrial 1 3 4
  • Phosphoinositide Lipid Phosphatase 3 4
  • PTEN-Like Phosphatase 3 4
  • MOSP 3 4
  • PLIP 3 4
  • NB4 Apoptosis/Differentiation Related Protein 3
  • 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 Metabolism and Glycerophospholipid biosynthesis. 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).

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

Genomics for PTPMT1 Gene

Regulatory Elements for PTPMT1 Gene


Promoters for PTPMT1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around PTPMT1 on UCSC Golden Path with GeneCards custom track

Genomic Location for PTPMT1 Gene

Chromosome:
11
Start:
47,565,430 bp from pter
End:
47,573,461 bp from pter
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

Proteomics data for PTPMT1 Gene at MOPED

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

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 :
  • Contains 1 tyrosine-protein phosphatase domain.
  • Belongs to the protein-tyrosine phosphatase family. Non-receptor class dual specificity subfamily.
Domain:
  • Contains 1 tyrosine-protein phosphatase domain.
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 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.
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).

Enzyme Numbers (IUBMB) 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: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

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
Jensen Localization Image for PTPMT1 Gene COMPARTMENTS Subcellular localization image for PTPMT1 gene
Compartment Confidence
mitochondrion 5
nucleus 5
cytosol 3
extracellular 1
peroxisome 1
plasma membrane 1

No data available for Gene Ontology (GO) - Cellular Components for PTPMT1 Gene

Pathways & Interactions for PTPMT1 Gene

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

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:0006655 phosphatidylglycerol biosynthetic process TAS --
GO:0032049 cardiolipin biosynthetic process ISS --
GO:0035335 peptidyl-tyrosine 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

(2) Drugs for PTPMT1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(6) 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
  • NFB Orthophosphate
  • O-Phosphoric acid
  • Ortho-phosphate
  • Orthophosphate (PO43-)
  • Orthophosphate(3-)
14265-44-2
phosphoric acid
  • Acide phosphorique (FRENCH)
  • Acido fosforico [Italian]
  • Acidum phosphoricum
  • Diphosphate tetrasodium
  • Fosforzuuroplossingen [Dutch]
7664-38-2
Water
  • Dihydrogen oxide
  • Steam
7732-18-5
genes like me logo Genes that share compounds with PTPMT1: view

Transcripts for PTPMT1 Gene

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 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, PaxDb, MOPED, and MaxQB for PTPMT1 Gene



SOURCE GeneReport for Unigene cluster for PTPMT1 Gene Hs.656205

genes like me logo Genes that share expression patterns with PTPMT1: view

Protein tissue co-expression partners for PTPMT1 Gene

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt 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
cow
(Bos Taurus)
Mammalia PTPMT1 35
  • 86.98 (n)
  • 83.33 (a)
PTPMT1 36
  • 60 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PTPMT1 35
  • 90.82 (n)
  • 88.27 (a)
PTPMT1 36
  • 64 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ptpmt1 35
  • 87.05 (n)
  • 84.46 (a)
Ptpmt1 16
chimpanzee
(Pan troglodytes)
Mammalia PTPMT1 35
  • 99.67 (n)
  • 99.5 (a)
PTPMT1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ptpmt1 35
  • 86.7 (n)
  • 84.46 (a)
oppossum
(Monodelphis domestica)
Mammalia PTPMT1 36
  • 33 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PTPMT1 36
  • 58 (a)
OneToOne
chicken
(Gallus gallus)
Aves PTPMT1 35
  • 69.47 (n)
  • 65.79 (a)
PTPMT1 36
  • 60 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PTPMT1 36
  • 56 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii ptpmt1 35
  • 59.7 (n)
  • 57.06 (a)
ptpmt1 36
  • 55 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000617 35
  • 56 (n)
  • 46.29 (a)
fruit fly
(Drosophila melanogaster)
Insecta Plip 35
  • 56.98 (n)
  • 45.93 (a)
Plip 36
  • 40 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea F28C6.8 35
  • 45.54 (n)
  • 37.16 (a)
F28C6.8 36
  • 35 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G56610 35
  • 46.78 (n)
  • 40.91 (a)
rice
(Oryza sativa)
Liliopsida Os05g0524200 35
  • 49.43 (n)
  • 41.95 (a)
Species with no ortholog for PTPMT1:
  • 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)

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 Sequence Context AA Info Type
rs61740549 -- 47,571,509(+) GCCAT(C/T)GCCAA reference, synonymous-codon, missense
rs143514331 -- 47,570,064(+) GTGTG(C/T)ACCTG intron-variant
rs144081316 -- 47,569,792(+) GTCCA(A/G)TTTGC intron-variant, reference, synonymous-codon
rs7945473 -- 47,568,155(+) gacct(C/T)gtgat intron-variant
rs183747316 -- 47,570,720(+) GATGC(A/T)TTAAA intron-variant

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

Variant ID Type Subtype PubMed ID
nsv897325 CNV Loss 21882294
nsv832142 CNV Loss 17160897
nsv314 CNV Loss 18451855
nsv825872 CNV Gain 20364138
nsv509405 CNV Insertion 20534489

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)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links 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

Relevant External Links for PTPMT1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 D.S. … Malek J. (Genome Res. 2004) 3 4 67
  2. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 2 3
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  4. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein M.Y. … Mann M. (Cell 2015) 3
  5. The pseudophosphatase MK-STYX physically and genetically interacts with the mitochondrial phosphatase PTPMT1. (PMID: 24709986) Niemi N.M. … MacKeigan J.P. (PLoS ONE 2014) 3

Products for PTPMT1 Gene

Sources for PTPMT1 Gene

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