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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
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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.
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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

Gene LinkOut

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