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    PTPMT1 protein tyrosine phosphatase mitochondrial 1 [ Homo sapiens (human) ]

    Gene ID: 114971, updated on 27-Nov-2024

    Summary

    Official Symbol
    PTPMT1provided by HGNC
    Official Full Name
    protein tyrosine phosphatase mitochondrial 1provided by HGNC
    Primary source
    HGNC:HGNC:26965
    See related
    Ensembl:ENSG00000110536 MIM:609538; AllianceGenome:HGNC:26965
    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
    MOSP; PLIP; DUSP23; PNAS-129
    Summary
    Predicted to enable phosphatidylglycerophosphatase activity and phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity. Involved in regulation of intrinsic apoptotic signaling pathway. Located in nucleus. Is active in mitochondrion. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in testis (RPKM 16.1), brain (RPKM 11.9) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See PTPMT1 in Genome Data Viewer
    Location:
    11p11.2
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (47565599..47573461)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (47726025..47733883)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (47587151..47595013)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124902673 Neighboring gene uncharacterized LOC124902820 Neighboring gene receptor associated protein of the synapse Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:47476965-47477464 Neighboring gene CUGBP Elav-like family member 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:47531803-47532677 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3330 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3331 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:47563719-47564218 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:47572896-47573571 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:47574247-47574922 Neighboring gene RNA, 7SL, cytoplasmic 652, pseudogene Neighboring gene H3K27ac hESC enhancers GRCh37_chr11:47586662-47587162 and GRCh37_chr11:47587163-47587663 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:47597510-47597690 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:47600081-47600740 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:47600741-47601399 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:47602141-47602358 Neighboring gene RNA, U5E small nuclear 10, pseudogene Neighboring gene kelch repeat and BTB domain containing 4 Neighboring gene NADH:ubiquinone oxidoreductase core subunit S3

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Potential readthrough

    Included gene: NDUFS3

    Clone Names

    • FLJ46081

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables MAP kinase serine/threonine phosphatase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables RNA polymerase II CTD heptapeptide repeat S2 phosphatase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables RNA polymerase II CTD heptapeptide repeat S5 phosphatase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables RNA polymerase II CTD heptapeptide repeat S7 phosphatase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables RNA polymerase II CTD heptapeptide repeat T4 phosphatase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables RNA polymerase II CTD heptapeptide repeat Y1 phosphatase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables calmodulin-dependent protein phosphatase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables histone H2AXS140 phosphatase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables histone H2AXY142 phosphatase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables myosin phosphatase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables non-membrane spanning protein tyrosine phosphatase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables phosphatidylglycerophosphatase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables phosphatidylglycerophosphatase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein tyrosine phosphatase activity, metal-dependent IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in cardiolipin biosynthetic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cardiolipin biosynthetic process TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in chromatin remodeling IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of intrinsic apoptotic signaling pathway IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in mitochondrial inner membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in mitochondrion HTP PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleus HDA PubMed 

    General protein information

    Preferred Names
    phosphatidylglycerophosphatase and protein-tyrosine phosphatase 1
    Names
    NB4 apoptosis/differentiation related protein
    PTEN-like phosphatase
    phosphoinositide lipid phosphatase
    NP_001137456.1
    NP_783859.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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)

    1. NM_001143984.2NP_001137456.1  phosphatidylglycerophosphatase and protein-tyrosine phosphatase 1 isoform 2

      See identical proteins and their annotated locations for NP_001137456.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2)reads through an intron and omits an exon, compared to variant 1. This results in a frameshift and a predicted protein with a distinct C-terminus (isoform 2).
      Source sequence(s)
      AC104942, BC014048, BC073798, BM702054, BM750411
      Consensus CDS
      CCDS44593.1
      UniProtKB/Swiss-Prot
      Q8WUK0
      Related
      ENSP00000410272.2, ENST00000426530.2
      Conserved Domains (1) summary
      cl28904
      Location:3758
      PTP_DSP_cys; cys-based protein tyrosine phosphatase and dual-specificity phosphatase superfamily
    2. NM_175732.3NP_783859.1  phosphatidylglycerophosphatase and protein-tyrosine phosphatase 1 isoform 1

      See identical proteins and their annotated locations for NP_783859.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) is the longer transcript.
      Source sequence(s)
      AC104942, BC014048, BC020242, BC073798, DR004030
      Consensus CDS
      CCDS41643.1
      UniProtKB/Swiss-Prot
      E9PAT8, Q7Z557, Q8WUK0, Q96CR2, Q9BXV8
      Related
      ENSP00000325958.9, ENST00000326674.10
      Conserved Domains (1) summary
      cl21483
      Location:40182
      PTPc; Protein tyrosine phosphatases (PTP) catalyze the dephosphorylation of phosphotyrosine peptides; they regulate phosphotyrosine levels in signal transduction pathways. The depth of the active site cleft renders the enzyme specific for phosphorylated Tyr ...

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      47565599..47573461
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_019805496.1 Reference GRCh38.p14 PATCHES

      Range
      1..1287
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      47726025..47733883
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)