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MTM1 myotubularin 1 [ Canis lupus familiaris (dog) ]

Gene ID: 612385, updated on 17-Aug-2024

Summary

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Official Symbol
MTM1provided by VGNC
Official Full Name
myotubularin 1provided by VGNC
Primary source
VGNC:VGNC:43477
See related
Ensembl:ENSCAFG00845023123
Gene type
protein coding
RefSeq status
MODEL
Organism
Canis lupus familiaris (sub-species: familiaris)
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Laurasiatheria; Carnivora; Caniformia; Canidae; Canis
Orthologs
human mouse all
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Genomic context

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See MTM1 in Genome Data Viewer
Location:
chromosome: X
Exon count:
17
Annotation release Status Assembly Chr Location
106 current ROS_Cfam_1.0 (GCF_014441545.1) X NC_051843.1 (121040671..121137182)
106 current Dog10K_Boxer_Tasha (GCF_000002285.5) X NC_006621.4 (104201980..104298484)
106 current UU_Cfam_GSD_1.0 (GCF_011100685.1) X NC_049260.1 (120127109..120223642)
106 current UMICH_Zoey_3.1 (GCF_005444595.1) X NC_049299.1 (117766609..117863103)
106 current UNSW_CanFamBas_1.0 (GCF_013276365.1) X NC_049780.1 (120208871..120297026)

Chromosome X - NC_051843.1Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102154180 Neighboring gene microRNA mir-2114 Neighboring gene mastermind like domain containing 1 Neighboring gene U6 spliceosomal RNA Neighboring gene myotubularin related protein 1 Neighboring gene CD99 molecule like 2

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Bibliography

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Related articles in PubMed

  1. Muscle function in a canine model of X-linked myotubular myopathy. Grange RW, et al. Muscle Nerve, 2012 Oct. PMID 22987702, Free PMC Article
  2. MTM1 mutation associated with X-linked myotubular myopathy in Labrador Retrievers. Beggs AH, et al. Proc Natl Acad Sci U S A, 2010 Aug 17. PMID 20682747, Free PMC Article
  3. Manual GO annotation of predictive protein signatures: the InterPro approach to GO curation. Burge S, et al. Database (Oxford), 2012. PMID 22301074, Free PMC Article
  4. TreeGrafter: phylogenetic tree-based annotation of proteins with Gene Ontology terms and other annotations. Tang H, et al. Bioinformatics, 2019 Feb 1. PMID 30032202, Free PMC Article

GeneRIFs: Gene References Into Functions

General gene information

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Homology

Gene Ontology Provided by RefSeq

Function Evidence Code Pubs
enables phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity IEA
Inferred from Electronic Annotation
more info
 PubMed 
Process Evidence Code Pubs
involved_in dephosphorylation IEA
Inferred from Electronic Annotation
more info
 PubMed 
involved_in mitochondrion distribution IEA
Inferred from Electronic Annotation
more info
 PubMed 
involved_in muscle cell cellular homeostasis IEA
Inferred from Electronic Annotation
more info
 PubMed 
involved_in negative regulation of autophagosome assembly IEA
Inferred from Electronic Annotation
more info
 PubMed 
Component Evidence Code Pubs
located_in plasma membrane IEA
Inferred from Electronic Annotation
more info
 PubMed 

General protein information

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Preferred Names
myotubularin; LOW QUALITY PROTEIN: myotubularin
XP_005641991.1
XP_005641992.1
XP_005641993.1
XP_038307028.1
XP_038307029.1
XP_038307030.1
XP_038307031.1
XP_038307032.1
XP_038320547.1
XP_038380499.1
XP_038380500.1
XP_038380501.1
XP_038380502.1
XP_038380503.1
XP_038444468.1
XP_038444469.1
XP_038444470.1
XP_038444471.1
XP_038444472.1
XP_038508987.1
XP_855209.1

NCBI Reference Sequences (RefSeq)

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RefSeqs of Annotated Genomes: Canis lupus familiaris Annotation Release 106 details...Open this link in a new tab

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

Reference ROS_Cfam_1.0

Genomic

  1. NC_051843.1 Reference ROS_Cfam_1.0

    Range
    121040671..121137182
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_038451100.1 → XP_038307028.1  myotubularin isoform X1

    UniProtKB/TrEMBL
    A0A8C0LEA8, A0A8C0LKJ2
    Related
    ENSCAFP00845031955.1, ENSCAFT00845040813.1
    Conserved Domains (2) summary
    cd13355
    Location:44 → 143
    PH-GRAM_MTM1; Myotubularian 1 protein (MTM1) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
    pfam06602
    Location:162 → 486
    Myotub-related; Myotubularin-like phosphatase domain

  2. XM_038451103.1 → XP_038307031.1  myotubularin isoform X2

    UniProtKB/TrEMBL
    A0A8C0LEA8
    Conserved Domains (2) summary
    cd13355
    Location:44 → 143
    PH-GRAM_MTM1; Myotubularian 1 protein (MTM1) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
    pfam06602
    Location:162 → 486
    Myotub-related; Myotubularin-like phosphatase domain

  3. XM_038451102.1 → XP_038307030.1  myotubularin isoform X1

    UniProtKB/TrEMBL
    A0A8C0LEA8, A0A8C0LKJ2
    Conserved Domains (2) summary
    cd13355
    Location:44 → 143
    PH-GRAM_MTM1; Myotubularian 1 protein (MTM1) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
    pfam06602
    Location:162 → 486
    Myotub-related; Myotubularin-like phosphatase domain

  4. XM_038451101.1 → XP_038307029.1  myotubularin isoform X1

    UniProtKB/TrEMBL
    A0A8C0LEA8, A0A8C0LKJ2
    Conserved Domains (2) summary
    cd13355
    Location:44 → 143
    PH-GRAM_MTM1; Myotubularian 1 protein (MTM1) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
    pfam06602
    Location:162 → 486
    Myotub-related; Myotubularin-like phosphatase domain

  5. XM_038451104.1 → XP_038307032.1  myotubularin isoform X3

    UniProtKB/TrEMBL
    A0A8C0LEA8
    Conserved Domains (2) summary
    pfam06602
    Location:67 → 391
    Myotub-related; Myotubularin-like phosphatase domain
    cl17171
    Location:1 → 48
    PH-like; Pleckstrin homology-like domain

Alternate UMICH_Zoey_3.1

Genomic

  1. NC_049299.1 Alternate UMICH_Zoey_3.1

    Range
    117766609..117863103
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_038524571.1 → XP_038380499.1  myotubularin isoform X1

    Conserved Domains (2) summary
    cd13355
    Location:44 → 143
    PH-GRAM_MTM1; Myotubularian 1 protein (MTM1) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
    pfam06602
    Location:162 → 486
    Myotub-related; Myotubularin-like phosphatase domain

  2. XM_038524574.1 → XP_038380502.1  myotubularin isoform X2

    Conserved Domains (2) summary
    cd13355
    Location:44 → 143
    PH-GRAM_MTM1; Myotubularian 1 protein (MTM1) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
    pfam06602
    Location:162 → 486
    Myotub-related; Myotubularin-like phosphatase domain

  3. XM_038524573.1 → XP_038380501.1  myotubularin isoform X1

    Conserved Domains (2) summary
    cd13355
    Location:44 → 143
    PH-GRAM_MTM1; Myotubularian 1 protein (MTM1) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
    pfam06602
    Location:162 → 486
    Myotub-related; Myotubularin-like phosphatase domain

  4. XM_038524572.1 → XP_038380500.1  myotubularin isoform X1

    Conserved Domains (2) summary
    cd13355
    Location:44 → 143
    PH-GRAM_MTM1; Myotubularian 1 protein (MTM1) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
    pfam06602
    Location:162 → 486
    Myotub-related; Myotubularin-like phosphatase domain

  5. XM_038524575.1 → XP_038380503.1  myotubularin isoform X3

    Conserved Domains (2) summary
    pfam06602
    Location:67 → 391
    Myotub-related; Myotubularin-like phosphatase domain
    cl17171
    Location:1 → 48
    PH-like; Pleckstrin homology-like domain

Alternate UNSW_CanFamBas_1.0

Genomic

  1. NC_049780.1 Alternate UNSW_CanFamBas_1.0

    Range
    120208871..120297026
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_038653059.1 → XP_038508987.1  LOW QUALITY PROTEIN: myotubularin isoform X4

Alternate UU_Cfam_GSD_1.0

Genomic

  1. NC_049260.1 Alternate UU_Cfam_GSD_1.0

    Range
    120127109..120223642
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_038588540.1 → XP_038444468.1  myotubularin isoform X1

    UniProtKB/TrEMBL
    A0A8C0LEA8, A0A8C0LKJ2
    Conserved Domains (2) summary
    cd13355
    Location:44 → 143
    PH-GRAM_MTM1; Myotubularian 1 protein (MTM1) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
    pfam06602
    Location:162 → 486
    Myotub-related; Myotubularin-like phosphatase domain

  2. XM_038588543.1 → XP_038444471.1  myotubularin isoform X2

    UniProtKB/TrEMBL
    A0A8C0LEA8
    Conserved Domains (2) summary
    cd13355
    Location:44 → 143
    PH-GRAM_MTM1; Myotubularian 1 protein (MTM1) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
    pfam06602
    Location:162 → 486
    Myotub-related; Myotubularin-like phosphatase domain

  3. XM_038588542.1 → XP_038444470.1  myotubularin isoform X1

    UniProtKB/TrEMBL
    A0A8C0LEA8, A0A8C0LKJ2
    Conserved Domains (2) summary
    cd13355
    Location:44 → 143
    PH-GRAM_MTM1; Myotubularian 1 protein (MTM1) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
    pfam06602
    Location:162 → 486
    Myotub-related; Myotubularin-like phosphatase domain

  4. XM_038588541.1 → XP_038444469.1  myotubularin isoform X1

    UniProtKB/TrEMBL
    A0A8C0LEA8, A0A8C0LKJ2
    Conserved Domains (2) summary
    cd13355
    Location:44 → 143
    PH-GRAM_MTM1; Myotubularian 1 protein (MTM1) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
    pfam06602
    Location:162 → 486
    Myotub-related; Myotubularin-like phosphatase domain

  5. XM_038588544.1 → XP_038444472.1  myotubularin isoform X3

    UniProtKB/TrEMBL
    A0A8C0LEA8
    Conserved Domains (2) summary
    pfam06602
    Location:67 → 391
    Myotub-related; Myotubularin-like phosphatase domain
    cl17171
    Location:1 → 48
    PH-like; Pleckstrin homology-like domain

Alternate Dog10K_Boxer_Tasha Primary Assembly

Genomic

  1. NC_006621.4 Alternate Dog10K_Boxer_Tasha Primary Assembly

    Range
    104201980..104298484
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_850116.5 → XP_855209.1  myotubularin isoform X1

    See identical proteins and their annotated locations for XP_855209.1

    UniProtKB/TrEMBL
    A0A8C0LEA8, A0A8C0LKJ2
    Conserved Domains (2) summary
    cd13355
    Location:44 → 143
    PH-GRAM_MTM1; Myotubularian 1 protein (MTM1) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
    pfam06602
    Location:162 → 486
    Myotub-related; Myotubularin-like phosphatase domain

  2. XM_005641935.3 → XP_005641992.1  myotubularin isoform X2

    UniProtKB/TrEMBL
    A0A8C0LEA8
    Conserved Domains (2) summary
    cd13355
    Location:44 → 143
    PH-GRAM_MTM1; Myotubularian 1 protein (MTM1) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
    pfam06602
    Location:162 → 486
    Myotub-related; Myotubularin-like phosphatase domain

  3. XM_038464619.1 → XP_038320547.1  myotubularin isoform X1

    UniProtKB/TrEMBL
    A0A8C0LEA8, A0A8C0LKJ2
    Conserved Domains (2) summary
    cd13355
    Location:44 → 143
    PH-GRAM_MTM1; Myotubularian 1 protein (MTM1) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
    pfam06602
    Location:162 → 486
    Myotub-related; Myotubularin-like phosphatase domain

  4. XM_005641934.4 → XP_005641991.1  myotubularin isoform X1

    See identical proteins and their annotated locations for XP_005641991.1

    UniProtKB/TrEMBL
    A0A8C0LEA8, A0A8C0LKJ2
    Conserved Domains (2) summary
    cd13355
    Location:44 → 143
    PH-GRAM_MTM1; Myotubularian 1 protein (MTM1) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
    pfam06602
    Location:162 → 486
    Myotub-related; Myotubularin-like phosphatase domain

  5. XM_005641936.3 → XP_005641993.1  myotubularin isoform X3

    UniProtKB/TrEMBL
    A0A8C0LEA8
    Conserved Domains (2) summary
    pfam06602
    Location:67 → 391
    Myotub-related; Myotubularin-like phosphatase domain
    cl17171
    Location:1 → 48
    PH-like; Pleckstrin homology-like domain
Nucleotide Protein
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