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    MTMR12 myotubularin related protein 12 [ Homo sapiens (human) ]

    Gene ID: 54545, updated on 17-Jun-2019

    Summary

    Official Symbol
    MTMR12provided by HGNC
    Official Full Name
    myotubularin related protein 12provided by HGNC
    Primary source
    HGNC:HGNC:18191
    See related
    Ensembl:ENSG00000150712 MIM:606501
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    3-PAP; PIP3AP
    Summary
    Phosphatidylinositide 3-kinase-derived membrane-anchored phosphatidylinositides, such as phosphatidylinositol 3-phosphate (PtdIns(3)P), regulate diverse cellular processes. The protein encoded by this gene functions as an adaptor subunit in a complex with an active PtdIns(3)P 3-phosphatase. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2014]
    Expression
    Ubiquitous expression in testis (RPKM 14.2), lung (RPKM 9.9) and 25 other tissues See more
    Orthologs

    Genomic context

    See MTMR12 in Genome Data Viewer
    Location:
    5p13.3
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (32227007..32312939, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (32227111..32313114, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene golgi phosphoprotein 3 Neighboring gene MTMR12 eExon liver enhancer Neighboring gene ribosomal protein L27 pseudogene 10 Neighboring gene RNA, U6 small nuclear 1079, pseudogene Neighboring gene RNA, U6 small nuclear 378, pseudogene Neighboring gene zinc finger RNA binding protein Neighboring gene microRNA 579 Neighboring gene transmembrane protein 183A pseudogene

    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 FunctionsWhat's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    phosphatase regulator activity IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    phosphatidylinositol biosynthetic process TAS
    Traceable Author Statement
    more info
     
    regulation of catalytic activity IEA
    Inferred from Electronic Annotation
    more info
     
    toxin transport IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
     
    sarcomere IEA
    Inferred from Electronic Annotation
    more info
     
    sarcoplasmic reticulum IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    myotubularin-related protein 12
    Names
    3-phosphatase adapter protein
    3-phosphatase adapter subunit
    inactive phosphatidylinositol 3-phosphatase 12
    phosphatidylinositol 3 phosphate 3-phosphatase adapter subunit
    phosphatidylinositol-3 phosphate 3-phosphatase adaptor subunit
    phosphatidylinositol-3-phosphate associated protein

    NCBI Reference Sequences (RefSeq)

    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_001040446.3NP_001035536.1  myotubularin-related protein 12 isoform 1

      See identical proteins and their annotated locations for NP_001035536.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AC025181, AY028703, BC057393
      Consensus CDS
      CCDS34138.1
      UniProtKB/Swiss-Prot
      Q9C0I1
      Related
      ENSP00000371577.3, ENST00000382142.8
      Conserved Domains (3) summary
      pfam12578
      Location:563686
      3-PAP; Myotubularin-associated protein
      cl17171
      Location:26202
      PH-like; Pleckstrin homology-like domain
      cl21483
      Location:228496
      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 ...
    2. NM_001294343.2NP_001281272.1  myotubularin-related protein 12 isoform 1

      See identical proteins and their annotated locations for NP_001281272.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an in-frame exon in the 3' coding region, compared to variant 1. The resulting isoform (2) lacks an internal segment, compared to isoform 1.
      Source sequence(s)
      AC025181, BC057393, DB483084
      Consensus CDS
      CCDS77998.1
      UniProtKB/Swiss-Prot
      Q9C0I1
      Related
      ENSP00000280285.5, ENST00000280285.9
      Conserved Domains (3) summary
      pfam12578
      Location:509632
      3-PAP; Myotubularin-associated protein
      cl17171
      Location:26202
      PH-like; Pleckstrin homology-like domain
      cl21483
      Location:228496
      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 ...
    3. NM_001294344.2NP_001281273.1  myotubularin-related protein 12 isoform 3

      See identical proteins and their annotated locations for NP_001281273.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks two in-frame exons in the 3' coding region, compared to variant 1. The resulting isoform (3) lacks an internal segment, compared to isoform 1.
      Source sequence(s)
      AC025181, AK000483, BC057393
      Consensus CDS
      CCDS75230.1
      UniProtKB/Swiss-Prot
      Q9C0I1
      Related
      ENSP00000264934.5, ENST00000264934.5
      Conserved Domains (3) summary
      pfam12578
      Location:453576
      3-PAP; Myotubularin-associated protein
      cl17171
      Location:26202
      PH-like; Pleckstrin homology-like domain
      cl21483
      Location:228454
      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: Homo sapiens Annotation Release 109

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

      Range
      32227007..32312939 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_019061.2: Suppressed sequence

      Description
      NM_019061.2: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
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