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    MTMR10 myotubularin related protein 10 [ Homo sapiens (human) ]

    Gene ID: 54893, updated on 14-Nov-2024

    Summary

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    Official Symbol
    MTMR10provided by HGNC
    Official Full Name
    myotubularin related protein 10provided by HGNC
    Primary source
    HGNC:HGNC:25999
    See related
    Ensembl:ENSG00000166912 AllianceGenome:HGNC:25999
    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
    Predicted to be involved in phosphatidylinositol dephosphorylation. Located in cytoplasm. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in kidney (RPKM 17.0), placenta (RPKM 15.7) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MTMR10 in Genome Data Viewer
    Location:
    15q13.3
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (30918716..30991628, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (28712307..28785709, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (31231144..31283831, complement)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene endonuclease domain containing 1 pseudogene Neighboring gene HERC2 pseudogene 10 Neighboring gene MPRA-validated peak2284 silencer Neighboring gene MPRA-validated peak2285 silencer Neighboring gene TMEM183A pseudogene 3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:31195700-31196697 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:31201877-31202376 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:31209335-31209834 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:31214641-31215582 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:31215583-31216523 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:31219875-31220375 Neighboring gene FANCD2 and FANCI associated nuclease 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:31246205-31246731 Neighboring gene RNA, U6 small nuclear 466, pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:31283406-31283928 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:31283929-31284450 Neighboring gene Sharpr-MPRA regulatory region 8183 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr15:31318084-31319283 Neighboring gene uncharacterized LOC105370752 Neighboring gene transient receptor potential cation channel subfamily M member 1 Neighboring gene microRNA 211

    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. PTEN and myotubularin phosphatases: from 3-phosphoinositide dephosphorylation to disease. Wishart MJ, et al. Trends Cell Biol, 2002 Dec. PMID 12495846
    2. Systematic analysis of myotubularins: heteromeric interactions, subcellular localisation and endosome related functions. Lorenzo O, et al. J Cell Sci, 2006 Jul 15. PMID 16787938
    3. Genomic study in Mexicans identifies a new locus for triglycerides and refines European lipid loci. Weissglas-Volkov D, et al. J Med Genet, 2013 May. PMID 23505323, Free PMC Article
    4. Myotubularin-related proteins 3 and 4 interact with polo-like kinase 1 and centrosomal protein of 55 kDa to ensure proper abscission. St-Denis N, et al. Mol Cell Proteomics, 2015 Apr. PMID 25659891, Free PMC Article
    5. Cooperative polarization of MCAM/CD146 and ERM family proteins in melanoma. Miller SG, et al. Mol Biol Cell, 2024 Mar 1. PMID 38117590, Free PMC Article

    See all (24) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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

    EBI GWAS Catalog

    Description
    Genomic study in Mexicans identifies a new locus for triglycerides and refines European lipid loci.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    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

    Clone Names

    • FLJ20313

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables phosphatidylinositol-3-phosphate phosphatase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in phosphatidylinositol dephosphorylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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
    		  
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    myotubularin-related protein 10
    Names
    inactive phosphatidylinositol 3-phosphatase 10

    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_017762.3 → NP_060232.2  myotubularin-related protein 10

      See identical proteins and their annotated locations for NP_060232.2

      Status: VALIDATED

      Source sequence(s)
      AA461184, AC087481, AC090829, AL598227, AL832603, BC094750
      Consensus CDS
      CCDS45204.1
      UniProtKB/Swiss-Prot
      Q6P4Q6, Q9NXD2
      UniProtKB/TrEMBL
      X5D963
      Related
      ENSP00000402537.1, ENST00000435680.6
      Conserved Domains (3) summary
      cd13346
      Location:21 → 195
      PH-GRAM_MTMR10; Myotubularian (MTM) related 10 protein (MTMR10) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
      pfam06602
      Location:226 → 507
      Myotub-related; Myotubularin-like phosphatase domain
      pfam12578
      Location:578 → 705
      3-PAP; Myotubularin-associated protein

    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_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      30918716..30991628 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011521737.4 → XP_011520039.1  myotubularin-related protein 10 isoform X3

      See identical proteins and their annotated locations for XP_011520039.1

      UniProtKB/TrEMBL
      X5D300
      Conserved Domains (2) summary
      cd13346
      Location:21 → 195
      PH-GRAM_MTMR10; Myotubularian (MTM) related 10 protein (MTMR10) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
      pfam06602
      Location:226 → 507
      Myotub-related; Myotubularin-like phosphatase domain

    2. XM_047432771.1 → XP_047288727.1  myotubularin-related protein 10 isoform X2

    3. XM_047432770.1 → XP_047288726.1  myotubularin-related protein 10 isoform X1

    4. XM_047432772.1 → XP_047288728.1  myotubularin-related protein 10 isoform X1

    5. XM_011521738.4 → XP_011520040.1  myotubularin-related protein 10 isoform X4

      See identical proteins and their annotated locations for XP_011520040.1

      UniProtKB/TrEMBL
      X5D300
      Related
      ENSP00000457390.1, ENST00000563714.5
      Conserved Domains (2) summary
      cd13346
      Location:21 → 195
      PH-GRAM_MTMR10; Myotubularian (MTM) related 10 protein (MTMR10) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
      pfam06602
      Location:226 → 507
      Myotub-related; Myotubularin-like phosphatase domain

    6. XM_047432773.1 → XP_047288729.1  myotubularin-related protein 10 isoform X5

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_011332701.1 Reference GRCh38.p14 PATCHES

      Range
      3091618..3164928 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054331800.1 → XP_054187775.1  myotubularin-related protein 10 isoform X3

    2. XM_054331799.1 → XP_054187774.1  myotubularin-related protein 10 isoform X2

    3. XM_054331798.1 → XP_054187773.1  myotubularin-related protein 10 isoform X1

    4. XM_054331803.1 → XP_054187778.1  myotubularin-related protein 10 isoform X1

    5. XM_054331802.1 → XP_054187777.1  myotubularin-related protein 10 isoform X1

    6. XM_054331801.1 → XP_054187776.1  myotubularin-related protein 10 isoform X4

    7. XM_054331804.1 → XP_054187779.1  myotubularin-related protein 10 isoform X5

    Reference GRCh38.p14 ALT_REF_LOCI_2

    Genomic

    1. NT_187660.1 Reference GRCh38.p14 ALT_REF_LOCI_2

      Range
      3204070..3277380 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054330028.1 → XP_054186003.1  myotubularin-related protein 10 isoform X3

    2. XM_054330027.1 → XP_054186002.1  myotubularin-related protein 10 isoform X2

    3. XM_054330026.1 → XP_054186001.1  myotubularin-related protein 10 isoform X1

    4. XM_054330031.1 → XP_054186006.1  myotubularin-related protein 10 isoform X1

    5. XM_054330030.1 → XP_054186005.1  myotubularin-related protein 10 isoform X1

    6. XM_054330029.1 → XP_054186004.1  myotubularin-related protein 10 isoform X4

    7. XM_054330032.1 → XP_054186007.1  myotubularin-related protein 10 isoform X5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      28712307..28785709 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054378320.1 → XP_054234295.1  myotubularin-related protein 10 isoform X3

    2. XM_054378319.1 → XP_054234294.1  myotubularin-related protein 10 isoform X2

    3. XM_054378318.1 → XP_054234293.1  myotubularin-related protein 10 isoform X1

    4. XM_054378322.1 → XP_054234297.1  myotubularin-related protein 10 isoform X1

    5. XM_054378321.1 → XP_054234296.1  myotubularin-related protein 10 isoform X4

    6. XM_054378323.1 → XP_054234298.1  myotubularin-related protein 10 isoform X5

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NXD2.3 GenPept UniProtKB/Swiss-Prot:Q9NXD2

    Gene LinkOut

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