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    MTMR11 myotubularin related protein 11 [ Homo sapiens (human) ]

    Gene ID: 10903, updated on 5-Mar-2024

    Summary

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    Official Symbol
    MTMR11provided by HGNC
    Official Full Name
    myotubularin related protein 11provided by HGNC
    Primary source
    HGNC:HGNC:24307
    See related
    Ensembl:ENSG00000014914 AllianceGenome:HGNC:24307
    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
    Also known as
    CRA
    Summary
    Predicted to enable phosphatidylinositol-3-phosphatase activity. Predicted to be involved in phosphatidylinositol dephosphorylation. Located in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in duodenum (RPKM 30.4), small intestine (RPKM 29.8) and 17 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    1q21.2
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (149928651..149936879, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (149053134..149061363, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (149900543..149908772, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:149881729-149882230 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:149882231-149882730 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1290 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1665 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1666 Neighboring gene synaptic vesicle glycoprotein 2A Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:149908038-149908562 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1667 Neighboring gene splicing factor 3b subunit 4 Neighboring gene OTU deubiquitinase 7B Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:149981420-149982302 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1292 Neighboring gene uncharacterized LOC124904413 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr1:149989091-149989750 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:149989751-149990408 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1293 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1669 Neighboring gene ribosomal protein L6 pseudogene 31 Neighboring gene vacuolar protein sorting 45 homolog

    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
    • 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. Genome wide association study identifies a novel putative mammographic density locus at 1q12-q21. Fernandez-Navarro P, et al. Int J Cancer, 2015 May 15. PMID 25353672
    3. A novel common variant in DCST2 is associated with length in early life and height in adulthood. van der Valk RJ, et al. Hum Mol Genet, 2015 Feb 15. PMID 25281659, Free PMC Article
    4. Systematic analysis of myotubularins: heteromeric interactions, subcellular localisation and endosome related functions. Lorenzo O, et al. J Cell Sci, 2006 Jul 15. PMID 16787938
    5. Proteomic analysis of exosomes from human neural stem cells by flow field-flow fractionation and nanoflow liquid chromatography-tandem mass spectrometry. Kang D, et al. J Proteome Res, 2008 Aug. PMID 18570454

    See all (16) 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
    A novel common variant in DCST2 is associated with length in early life and height in adulthood.
    EBI GWAS Catalog
    Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.
    EBI GWAS Catalog
    Many sequence variants affecting diversity of adult human height.
    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)

    Genotypes

    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

    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 extracellular exosome HDA PubMed 

    General protein information

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    Preferred Names
    myotubularin-related protein 11
    Names
    cisplatin resistance associated
    cisplatin resistance-associated protein
    hCRA
    inactive phosphatidylinositol 3-phosphatase 11

    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_001145862.2 → NP_001139334.1  myotubularin-related protein 11 isoform a

      See identical proteins and their annotated locations for NP_001139334.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
      Source sequence(s)
      AK298775, BC064372, BC100819, DB474756
      Consensus CDS
      CCDS72902.1
      UniProtKB/Swiss-Prot
      A4FU01, B3KUE4, B4DJI6, B4DQF5, B4E3Q6, Q3ZCP7, Q5SZ62, Q6P2Q8, Q99752, Q99753
      Related
      ENSP00000391668.2, ENST00000439741.4
      Conserved Domains (3) summary
      pfam12578
      Location:551 → 678
      3-PAP; Myotubularin-associated protein
      cl17171
      Location:46 → 160
      PH-like; Pleckstrin homology-like domain
      cl21483
      Location:201 → 466
      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_181873.3 → NP_870988.2  myotubularin-related protein 11 isoform b

      See identical proteins and their annotated locations for NP_870988.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' and 3' UTRs, and contains alternate 5' and 3' coding regions, compared to variant 1. The resulting isoform (b) has distinct N- and C-termini and is shorter than isoform a.
      Source sequence(s)
      AK097000, AK296094, BC064372, DA492093
      Consensus CDS
      CCDS72901.1
      UniProtKB/Swiss-Prot
      A4FU01
      Related
      ENSP00000358136.3, ENST00000369140.7
      Conserved Domains (3) summary
      pfam12578
      Location:479 → 606
      3-PAP; Myotubularin-associated protein
      cl17171
      Location:4 → 88
      PH-like; Pleckstrin homology-like domain
      cl21483
      Location:129 → 394
      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: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      149928651..149936879 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024452578.2 → XP_024308346.1  myotubularin-related protein 11 isoform X1

      Conserved Domains (3) summary
      pfam12578
      Location:515 → 642
      3-PAP; Myotubularin-associated protein
      cl17171
      Location:48 → 124
      PH-like; Pleckstrin homology-like domain
      cl21483
      Location:165 → 446
      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. XM_047441008.1 → XP_047296964.1  myotubularin-related protein 11 isoform X2

    3. XM_024452592.2 → XP_024308360.1  myotubularin-related protein 11 isoform X4

      Related
      ENST00000492824.5
      Conserved Domains (2) summary
      cd15790
      Location:46 → 160
      PH-GRAM_MTMR11; Myotubularian (MTM) related 11 protein (MTMR11) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
      cl21483
      Location:201 → 378
      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 ...

    4. XM_006711137.2 → XP_006711200.1  myotubularin-related protein 11 isoform X2

      See identical proteins and their annotated locations for XP_006711200.1

      Conserved Domains (3) summary
      pfam12578
      Location:479 → 606
      3-PAP; Myotubularin-associated protein
      cl17171
      Location:4 → 88
      PH-like; Pleckstrin homology-like domain
      cl21483
      Location:129 → 394
      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 ...

    5. XM_011509099.4 → XP_011507401.1  myotubularin-related protein 11 isoform X3

      Conserved Domains (2) summary
      cd15790
      Location:46 → 160
      PH-GRAM_MTMR11; Myotubularian (MTM) related 11 protein (MTMR11) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
      cl21483
      Location:201 → 364
      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 ...

    RNA

    1. XR_007067794.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      149053134..149061363 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054333947.1 → XP_054189922.1  myotubularin-related protein 11 isoform X1

    2. XM_054333948.1 → XP_054189923.1  myotubularin-related protein 11 isoform X2

    3. XM_054333950.1 → XP_054189925.1  myotubularin-related protein 11 isoform X4

    4. XM_054333949.1 → XP_054189924.1  myotubularin-related protein 11 isoform X3

    RNA

    1. XR_008485880.1 RNA Sequence

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_006697.1: Suppressed sequence

      Description
      NM_006697.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A4FU01.2 GenPept UniProtKB/Swiss-Prot:A4FU01

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