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    MTMR14 myotubularin related protein 14 [ Homo sapiens (human) ]

    Gene ID: 64419, updated on 24-Sep-2016
    Official Symbol
    MTMR14provided by HGNC
    Official Full Name
    myotubularin related protein 14provided by HGNC
    Primary source
    HGNC:HGNC:26190
    See related
    Ensembl:ENSG00000163719 HPRD:08654; MIM:611089; Vega:OTTHUMG00000155111
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    C3orf29
    Summary
    This gene encodes a myotubularin-related protein. The encoded protein is a phosphoinositide phosphatase that specifically dephosphorylates phosphatidylinositol 3,5-biphosphate and phosphatidylinositol 3-phosphate. Mutations in this gene are correlated with autosomal dominant centronuclear myopathy. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 18.[provided by RefSeq, Apr 2010]
    Orthologs
    Location:
    3p26
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 3 NC_000003.12 (9649433..9702394)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (9691117..9744078)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105376949 Neighboring gene dual specificity phosphatase 5 pseudogene 2 Neighboring gene copine family member 9 Neighboring gene bromodomain and PHD finger containing 1

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ11546, FLJ22405, FLJ46453, FLJ90311

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    macroautophagy TAS
    Traceable Author Statement
    more info
     
    peptidyl-tyrosine dephosphorylation IEA
    Inferred from Electronic Annotation
    more info
     
    phosphatidylinositol biosynthetic process TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    cytosol TAS
    Traceable Author Statement
    more info
     
    perinuclear region of cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ruffle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    myotubularin-related protein 14
    Names
    HCV NS5A-transactivated protein 4 splice variant A-binding protein 1
    NS5ATP4ABP1
    egg-derived tyrosine phosphatase homolog
    jumpy

    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.

    Genomic

    1. NG_017068.1 RefSeqGene

      Range
      5001..57962
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001077525.2NP_001070993.1  myotubularin-related protein 14 isoform 2

      See identical proteins and their annotated locations for NP_001070993.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) represents the longest transcript and it encodes the longest protein (isoform 2).
      Source sequence(s)
      BC035690, BF796406, DC316206
      Consensus CDS
      CCDS43043.1
      UniProtKB/Swiss-Prot
      Q8NCE2
      Related
      ENSP00000296003, OTTHUMP00000207250, ENST00000296003, OTTHUMT00000338435
      Conserved Domains (1) summary
      cd13213
      Location:128244
      PH-GRAM_MTMR14; Myotubularian (MTM) related 14 protein (MTMR14) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
    2. NM_001077526.2NP_001070994.1  myotubularin-related protein 14 isoform 1

      See identical proteins and their annotated locations for NP_001070994.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) lacks an alternate in-frame segment in the 3' coding region, compared to variant 2. The resulting protein (isoform 1) has a shorter C-terminus when it is compared to isoform 2.
      Source sequence(s)
      AF289603, BF796406, DC316206, DQ630520
      Consensus CDS
      CCDS43044.1
      UniProtKB/Swiss-Prot
      Q8NCE2
      UniProtKB/TrEMBL
      Q8WYY9
      Related
      ENSP00000323462, OTTHUMP00000207251, ENST00000353332, OTTHUMT00000338436
      Conserved Domains (1) summary
      cd13213
      Location:128244
      PH-GRAM_MTMR14; Myotubularian (MTM) related 14 protein (MTMR14) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
    3. NM_022485.4NP_071930.2  myotubularin-related protein 14 isoform 3

      See identical proteins and their annotated locations for NP_071930.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks two alternate in-frame segments in the 3' coding region, compared to variant 2. The resulting protein (isoform 3) has a shorter C-terminus when it is compared to isoform 2.
      Source sequence(s)
      AL713695, BF796406, DC316206
      Consensus CDS
      CCDS43045.1
      UniProtKB/Swiss-Prot
      Q8NCE2
      Related
      ENSP00000334070, OTTHUMP00000207254, ENST00000351233, OTTHUMT00000338439
      Conserved Domains (1) summary
      cd13213
      Location:128244
      PH-GRAM_MTMR14; Myotubularian (MTM) related 14 protein (MTMR14) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p7 Primary Assembly

      Range
      9649433..9702394
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005265400.1XP_005265457.1  

      Conserved Domains (1) summary
      cd13213
      Location:128244
      PH-GRAM_MTMR14; Myotubularian (MTM) related 14 protein (MTMR14) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
    2. XM_017007038.1XP_016862527.1  

    3. XM_017007042.1XP_016862531.1  

    4. XM_017007034.1XP_016862523.1  

      Conserved Domains (1) summary
      cd13213
      Location:151267
      PH-GRAM_MTMR14; Myotubularian (MTM) related 14 protein (MTMR14) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
    5. XM_017007035.1XP_016862524.1  

    6. XM_017007037.1XP_016862526.1  

    7. XM_017007040.1XP_016862529.1  

    8. XM_017007036.1XP_016862525.1  

    9. XM_017007039.1XP_016862528.1  

    10. XM_017007044.1XP_016862533.1  

    11. XM_017007045.1XP_016862534.1  

    12. XM_011534012.1XP_011532314.1  

      See identical proteins and their annotated locations for XP_011532314.1

      Conserved Domains (1) summary
      cd13213
      Location:34150
      PH-GRAM_MTMR14; Myotubularian (MTM) related 14 protein (MTMR14) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
    13. XM_017007043.1XP_016862532.1  

    14. XM_017007041.1XP_016862530.1  

    15. XM_011534013.1XP_011532315.1  

      Conserved Domains (1) summary
      cd13213
      Location:7123
      PH-GRAM_MTMR14; Myotubularian (MTM) related 14 protein (MTMR14) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain

    RNA

    1. XR_245152.1 RNA Sequence

    2. XR_001740233.1 RNA Sequence

    3. XR_001740232.1 RNA Sequence

    4. XR_001740231.1 RNA Sequence

    Alternate CHM1_1.1

    Genomic

    1. NC_018914.2 Alternate CHM1_1.1

      Range
      9641322..9694282
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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