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

    Gene ID: 9107, updated on 2-Nov-2024

    Summary

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    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; AllianceGenome:HGNC:7453
    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
    Summary
    Enables phosphatidylinositol-3,5-bisphosphate phosphatase activity and phosphatidylinositol-3-phosphate phosphatase activity. Involved in phosphatidylinositol dephosphorylation. Located in cytoplasm and nuclear envelope. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in testis (RPKM 13.0), adrenal (RPKM 12.0) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MTMR6 in Genome Data Viewer
    Location:
    13q12.13
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (25246222..25287488, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (24455889..24497172, complement)
    RS_2024_09 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 Neanderthal introgressed variant-containing enhancer experimental_32764 Neighboring gene uncharacterized LOC105370121 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:25861006-25861626 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7484 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7485 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7486 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7487 Neighboring gene nucleoporin 58 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_32788 Neighboring gene CRISPRi-validated cis-regulatory element chr13.188 Neighboring gene elongin B pseudogene 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    Related articles in PubMed

    1. Myotubularin-related protein 6 is an ion channel-associated pro-leishmanial phosphatase. Parveen S, et al. Int Immunopharmacol, 2024 Mar 10. PMID 38330797
    2. Phosphatidylinositol-3 phosphatase myotubularin-related protein 6 negatively regulates CD4 T cells. Srivastava S, et al. Mol Cell Biol, 2006 Aug. PMID 16847315, Free PMC Article
    3. MiR-506-3p suppresses the proliferation of ovarian cancer cells by negatively regulating the expression of MTMR6. Wang Y, et al. J Biosci, 2019 Dec. PMID 31894107
    4. MTMR9 increases MTMR6 enzyme activity, stability, and role in apoptosis. Zou J, et al. J Biol Chem, 2009 Jan 23. PMID 19038970, Free PMC Article
    5. Phosphatidylinositol-5-phosphate activation and conserved substrate specificity of the myotubularin phosphatidylinositol 3-phosphatases. Schaletzky J, et al. Curr Biol, 2003 Mar 18. PMID 12646134

    See all (60) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Myotubularin-related protein 6 is an ion channel-associated pro-leishmanial phosphatase.
      Title: Myotubularin-related protein 6 is an ion channel-associated pro-leishmanial phosphatase.
    2. rescue experiments using MTMR6 overexpression further verified that MTMR6 was a functional target of miR-506-3p. Our data indicate that miR-506-3p might serve as a tumor suppressor gene and propose a new regulatory mechanism of MTMR6 by miR-506-3p in ovarian cancer .
      Title: MiR-506-3p suppresses the proliferation of ovarian cancer cells by negatively regulating the expression of MTMR6.
    3. MTMR6, which dephosphorylates PI(3)P to PI, and its binding partner MTMR9, are required for macropinocytosis.
      Title: Sequential breakdown of 3-phosphorylated phosphoinositides is essential for the completion of macropinocytosis.
    4. results indicate that the cellular localization of MTMR6 is regulated by Rab1B in the early secretory and autophagic pathways
      Title: Phosphatidylinositol 3-phosphatase myotubularin-related protein 6 (MTMR6) is regulated by small GTPase Rab1B in the early secretory and autophagic pathways.
    5. MTMR9 greatly enhances the functions of MTMR6
      Title: MTMR9 increases MTMR6 enzyme activity, stability, and role in apoptosis.
    6. Identification of myotubularin as the lipid phosphatase catalytic subunit associated with the 3-phosphatase adapter protein, 3-PAP.
      Title: Identification of myotubularin as the lipid phosphatase catalytic subunit associated with the 3-phosphatase adapter protein, 3-PAP.
    7. investigation of MTM1 and MTMR6 and finding that they use PtdIns(3,5)P2 in addition to PtdIns3P as a substrate in vitro
      Title: Phosphatidylinositol-5-phosphate activation and conserved substrate specificity of the myotubularin phosphatidylinositol 3-phosphatases.
    8. Data show that KCa3.1, which is critical for Ca2+ influx in reactivated naive T cells and central memory T cells, requires phosphatidylinositol-3 phosphatase for activation and is inhibited by PI(3)P phosphatase myotubularin-related protein 6 (MTMR6).
      Title: Phosphatidylinositol-3 phosphatase myotubularin-related protein 6 negatively regulates CD4 T cells.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity TAS
    Traceable Author Statement
    more info
    		  
    enables phosphatidylinositol-3,5-bisphosphate phosphatase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables phosphatidylinositol-3,5-bisphosphate phosphatase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables phosphatidylinositol-3-phosphate phosphatase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables phosphatidylinositol-3-phosphate phosphatase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables phosphatidylinositol-3-phosphate phosphatase activity TAS
    Traceable Author Statement
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein serine/threonine phosphatase activity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    enables protein tyrosine phosphatase activity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in endocytosis 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
    		  
    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
    		  
    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 nuclear envelope IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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

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    Preferred Names
    phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR6; 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
    XP_047286722.1
    XP_054231142.1
    XP_054231143.1
    XP_054231144.1

    NCBI Reference Sequences (RefSeq)

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    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_001385230.1 → NP_001372159.1  phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR6 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AL590787
      UniProtKB/TrEMBL
      A0A9L9PXJ0
      Related
      ENSP00000516657.1, ENST00000482345.2
      Conserved Domains (2) summary
      cd13343
      Location:1 → 101
      PH-GRAM_MTMR6; Myotubularian (MTM) related (MTMR) 6 protein Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
      cl28904
      Location:130 → 469
      PTP_DSP_cys; cys-based protein tyrosine phosphatase and dual-specificity phosphatase superfamily

    2. NM_001385231.1 → NP_001372160.1  phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR6 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AL590787
      Conserved Domains (2) summary
      cd13343
      Location:1 → 101
      PH-GRAM_MTMR6; Myotubularian (MTM) related (MTMR) 6 protein Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
      cd14585
      Location:112 → 413
      PTP-MTMR6; protein tyrosine phosphatase-like domain of myotubularin related phosphoinositide phosphatase 6

    3. NM_001385232.1 → NP_001372161.1  phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR6 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AL590787
      Conserved Domains (2) summary
      cd13343
      Location:1 → 101
      PH-GRAM_MTMR6; Myotubularian (MTM) related (MTMR) 6 protein Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
      cl28904
      Location:130 → 389
      PTP_DSP_cys; cys-based protein tyrosine phosphatase and dual-specificity phosphatase superfamily

    4. NM_001385233.1 → NP_001372162.1  phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR6 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AL590787
      Conserved Domains (2) summary
      cd13343
      Location:1 → 101
      PH-GRAM_MTMR6; Myotubularian (MTM) related (MTMR) 6 protein Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
      cl28904
      Location:130 → 388
      PTP_DSP_cys; cys-based protein tyrosine phosphatase and dual-specificity phosphatase superfamily

    5. NM_001385234.1 → NP_001372163.1  phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR6 isoform 6

      Status: VALIDATED

      Source sequence(s)
      AL590787
      Conserved Domains (2) summary
      cd13343
      Location:1 → 101
      PH-GRAM_MTMR6; Myotubularian (MTM) related (MTMR) 6 protein Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
      cl28904
      Location:130 → 386
      PTP_DSP_cys; cys-based protein tyrosine phosphatase and dual-specificity phosphatase superfamily

    6. NM_001385235.1 → NP_001372164.1  phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR6 isoform 7

      Status: VALIDATED

      Source sequence(s)
      AL590787
      Conserved Domains (2) summary
      cd13343
      Location:1 → 101
      PH-GRAM_MTMR6; Myotubularian (MTM) related (MTMR) 6 protein Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
      cl28904
      Location:130 → 366
      PTP_DSP_cys; cys-based protein tyrosine phosphatase and dual-specificity phosphatase superfamily

    7. NM_001385236.1 → NP_001372165.1  phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR6 isoform 8

      Status: VALIDATED

      Source sequence(s)
      AL590787
      Conserved Domains (2) summary
      cd13343
      Location:1 → 101
      PH-GRAM_MTMR6; Myotubularian (MTM) related (MTMR) 6 protein Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
      cd14585
      Location:130 → 431
      PTP-MTMR6; protein tyrosine phosphatase-like domain of myotubularin related phosphoinositide phosphatase 6

    8. NM_001385237.1 → NP_001372166.1  phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR6 isoform 9

      Status: VALIDATED

      Source sequence(s)
      AL590787
      Conserved Domains (2) summary
      cd13343
      Location:1 → 101
      PH-GRAM_MTMR6; Myotubularian (MTM) related (MTMR) 6 protein Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
      cl28904
      Location:130 → 386
      PTP_DSP_cys; cys-based protein tyrosine phosphatase and dual-specificity phosphatase superfamily

    9. NM_001385238.1 → NP_001372167.1  phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR6 isoform 10

      Status: VALIDATED

      Source sequence(s)
      AL590787
      Conserved Domains (1) summary
      cl28904
      Location:1 → 295
      PTP_DSP_cys; cys-based protein tyrosine phosphatase and dual-specificity phosphatase superfamily

    10. NM_004685.5 → NP_004676.3  phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR6 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
      B2RBB5, B3KSB4, Q5JRG6, Q86TB7, Q86YH4, Q96P80, Q9Y217
      Related
      ENSP00000371221.5, ENST00000381801.6
      Conserved Domains (2) summary
      cd13343
      Location:1 → 101
      PH-GRAM_MTMR6; Myotubularian (MTM) related (MTMR) 6 protein Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
      pfam06602
      Location:107 → 444
      Myotub-related; Myotubularin-like phosphatase domain

    RNA

    1. NR_169592.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL590787

    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_000013.11 Reference GRCh38.p14 Primary Assembly

      Range
      25246222..25287488 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011535307.2 → XP_011533609.1  myotubularin-related protein 6 isoform X1

      Conserved Domains (2) summary
      cd13343
      Location:1 → 101
      PH-GRAM_MTMR6; Myotubularian (MTM) related (MTMR) 6 protein Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
      pfam06602
      Location:107 → 482
      Myotub-related; Myotubularin-like phosphatase domain

    2. XM_017020846.2 → XP_016876335.1  myotubularin-related protein 6 isoform X2

    3. XM_047430766.1 → XP_047286722.1  myotubularin-related protein 6 isoform X3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060937.1 Alternate T2T-CHM13v2.0

      Range
      24455889..24497172 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054375167.1 → XP_054231142.1  myotubularin-related protein 6 isoform X1

    2. XM_054375168.1 → XP_054231143.1  myotubularin-related protein 6 isoform X2

    3. XM_054375169.1 → XP_054231144.1  myotubularin-related protein 6 isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Y217.3 GenPept UniProtKB/Swiss-Prot:Q9Y217

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