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    MTMR6 myotubularin related protein 6 [ Homo sapiens (human) ]

    Gene ID: 9107, updated on 23-Nov-2021

    Summary

    Official Symbol
    MTMR6provided by HGNC
    Official Full Name
    myotubularin related protein 6provided by HGNC
    Primary source
    HGNC:HGNC:7453
    See related
    Ensembl:ENSG00000139505 MIM:603561
    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
    Expression
    Ubiquitous expression in testis (RPKM 13.0), adrenal (RPKM 12.0) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See MTMR6 in Genome Data Viewer
    Location:
    13q12.13
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    109.20211119 current GRCh38.p13 (GCF_000001405.39) 13 NC_000013.11 (25246222..25287512, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (25820360..25861626, complement)

    Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene ribosomal protein L23a pseudogene 69 Neighboring gene uncharacterized LOC105370121 Neighboring gene nucleoporin 58 Neighboring gene CRISPRi-validated cis-regulatory element chr13.188

    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

    Homology

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in endocytosis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in peptidyl-tyrosine dephosphorylation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in phosphatidylinositol biosynthetic process TAS
    Traceable Author Statement
    more info
     
    involved_in phosphatidylinositol dephosphorylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in phosphatidylinositol dephosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein dephosphorylation NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in endoplasmic reticulum IEA
    Inferred from Electronic Annotation
    more info
     
    located_in endoplasmic reticulum-Golgi intermediate compartment IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    is_active_in nuclear envelope IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in nuclear envelope IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in perinuclear region of cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    located_in ruffle membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    myotubularin-related protein 6
    Names
    phosphatidylinositol-3,5-bisphosphate 3-phosphatase
    phosphatidylinositol-3-phosphate phosphatase
    NP_001372159.1
    NP_001372160.1
    NP_001372161.1
    NP_001372162.1
    NP_001372163.1
    NP_001372164.1
    NP_001372165.1
    NP_001372166.1
    NP_001372167.1
    NP_004676.3
    XP_011533609.1
    XP_016876335.1

    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_001385230.1NP_001372159.1  myotubularin-related protein 6 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AL590787
      Conserved Domains (2) summary
      cd13343
      Location:1101
      PH-GRAM_MTMR6; Myotubularian (MTM) related (MTMR) 6 protein Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
      cl28904
      Location:130469
      PTP_DSP_cys; cys-based protein tyrosine phosphatase and dual-specificity phosphatase superfamily
    2. NM_001385231.1NP_001372160.1  myotubularin-related protein 6 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AL590787
      Conserved Domains (2) summary
      cd13343
      Location:1101
      PH-GRAM_MTMR6; Myotubularian (MTM) related (MTMR) 6 protein Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
      cd14585
      Location:112413
      PTP-MTMR6; protein tyrosine phosphatase-like domain of myotubularin related phosphoinositide phosphatase 6
    3. NM_001385232.1NP_001372161.1  myotubularin-related protein 6 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AL590787
      Conserved Domains (2) summary
      cd13343
      Location:1101
      PH-GRAM_MTMR6; Myotubularian (MTM) related (MTMR) 6 protein Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
      cl28904
      Location:130389
      PTP_DSP_cys; cys-based protein tyrosine phosphatase and dual-specificity phosphatase superfamily
    4. NM_001385233.1NP_001372162.1  myotubularin-related protein 6 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AL590787
      Conserved Domains (2) summary
      cd13343
      Location:1101
      PH-GRAM_MTMR6; Myotubularian (MTM) related (MTMR) 6 protein Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
      cl28904
      Location:130388
      PTP_DSP_cys; cys-based protein tyrosine phosphatase and dual-specificity phosphatase superfamily
    5. NM_001385234.1NP_001372163.1  myotubularin-related protein 6 isoform 6

      Status: VALIDATED

      Source sequence(s)
      AL590787
      Conserved Domains (2) summary
      cd13343
      Location:1101
      PH-GRAM_MTMR6; Myotubularian (MTM) related (MTMR) 6 protein Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
      cl28904
      Location:130386
      PTP_DSP_cys; cys-based protein tyrosine phosphatase and dual-specificity phosphatase superfamily
    6. NM_001385235.1NP_001372164.1  myotubularin-related protein 6 isoform 7

      Status: VALIDATED

      Source sequence(s)
      AL590787
      Conserved Domains (2) summary
      cd13343
      Location:1101
      PH-GRAM_MTMR6; Myotubularian (MTM) related (MTMR) 6 protein Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
      cl28904
      Location:130366
      PTP_DSP_cys; cys-based protein tyrosine phosphatase and dual-specificity phosphatase superfamily
    7. NM_001385236.1NP_001372165.1  myotubularin-related protein 6 isoform 8

      Status: VALIDATED

      Source sequence(s)
      AL590787
      Conserved Domains (2) summary
      cd13343
      Location:1101
      PH-GRAM_MTMR6; Myotubularian (MTM) related (MTMR) 6 protein Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
      cd14585
      Location:130431
      PTP-MTMR6; protein tyrosine phosphatase-like domain of myotubularin related phosphoinositide phosphatase 6
    8. NM_001385237.1NP_001372166.1  myotubularin-related protein 6 isoform 9

      Status: VALIDATED

      Source sequence(s)
      AL590787
      Conserved Domains (2) summary
      cd13343
      Location:1101
      PH-GRAM_MTMR6; Myotubularian (MTM) related (MTMR) 6 protein Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
      cl28904
      Location:130386
      PTP_DSP_cys; cys-based protein tyrosine phosphatase and dual-specificity phosphatase superfamily
    9. NM_001385238.1NP_001372167.1  myotubularin-related protein 6 isoform 10

      Status: VALIDATED

      Source sequence(s)
      AL590787
      Conserved Domains (1) summary
      cl28904
      Location:1295
      PTP_DSP_cys; cys-based protein tyrosine phosphatase and dual-specificity phosphatase superfamily
    10. NM_004685.5NP_004676.3  myotubularin-related protein 6 isoform 1

      See identical proteins and their annotated locations for NP_004676.3

      Status: VALIDATED

      Source sequence(s)
      AL590787
      Consensus CDS
      CCDS9313.1
      UniProtKB/Swiss-Prot
      Q9Y217
      Related
      ENSP00000371221.5, ENST00000381801.6
      Conserved Domains (2) summary
      cd13343
      Location:1101
      PH-GRAM_MTMR6; Myotubularian (MTM) related (MTMR) 6 protein Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
      pfam06602
      Location:107444
      Myotub-related; Myotubularin-like phosphatase domain

    RNA

    1. NR_169592.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL590787

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000013.11 Reference GRCh38.p13 Primary Assembly

      Range
      25246222..25287512 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011535307.1XP_011533609.1  myotubularin-related protein 6 isoform X2

      Conserved Domains (2) summary
      cd13343
      Location:1101
      PH-GRAM_MTMR6; Myotubularian (MTM) related (MTMR) 6 protein Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
      pfam06602
      Location:107482
      Myotub-related; Myotubularin-like phosphatase domain
    2. XM_017020846.1XP_016876335.1  myotubularin-related protein 6 isoform X4

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