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Mtmr1 myotubularin related protein 1 [ Rattus norvegicus (Norway rat) ]

Gene ID: 317296, updated on 17-Aug-2024

Summary

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Official Symbol
Mtmr1provided by RGD
Official Full Name
myotubularin related protein 1provided by RGD
Primary source
RGD:1306569
See related
EnsemblRapid:ENSRNOG00000002697 AllianceGenome:RGD:1306569
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Rattus norvegicus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Summary
Predicted to enable phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity; phosphatidylinositol-3-phosphatase activity; and protein homodimerization activity. Predicted to be involved in phosphatidylinositol dephosphorylation and regulation of phosphatidylinositol dephosphorylation. Predicted to be located in plasma membrane. Predicted to be active in cytoplasm and membrane. Orthologous to human MTMR1 (myotubularin related protein 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in Thymus (RPKM 113.2), Spleen (RPKM 103.1) and 9 other tissues See more
Orthologs
human mouse all
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Genomic context

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Location:
18p13
Exon count:
20
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCr8 (GCF_036323735.1) 18 NC_086036.1 (229390..262893)
RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 18 NC_051353.1 (215031..248541)
106 previous assembly Rnor_6.0 (GCF_000001895.5) 18 NC_005117.4 (291785..325415, complement)

Chromosome 18 - NC_086036.1Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC134482991 Neighboring gene FUN14 domain containing 2 Neighboring gene mature T-cell proliferation 1 Neighboring gene C-X9-C motif containing 4 Neighboring gene coagulation factor VIII Neighboring gene uncharacterized LOC134482992 Neighboring gene zinc finger protein 91, pseudogene 2 Neighboring gene U6 spliceosomal RNA Neighboring gene zinc finger protein 501-like

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
  • Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
  • BioProject: PRJNA238328
  • Publication: PMID 24510058
  • Analysis date: Mon Jun 6 17:44:12 2016

Bibliography

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Related articles in PubMed

  1. Crystal Structure of Human Myotubularin-Related Protein 1 Provides Insight into the Structural Basis of Substrate Specificity. Bong SM, et al. PLoS One, 2016. PMID 27018598, Free PMC Article
  2. Myotubularin and MTMR2, phosphatidylinositol 3-phosphatases mutated in myotubular myopathy and type 4B Charcot-Marie-Tooth disease. Kim SA, et al. J Biol Chem, 2002 Feb 8. PMID 11733541
  3. Muscle-specific alternative splicing of myotubularin-related 1 gene is impaired in DM1 muscle cells. Buj-Bello A, et al. Hum Mol Genet, 2002 Sep 15. PMID 12217958
  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. FMRP recruitment of β-catenin to the translation pre-initiation complex represses translation. Ehyai S, et al. EMBO Rep, 2018 Dec. PMID 30361391, Free PMC Article

See all (7) citations in PubMed

GeneRIFs: Gene References Into Functions

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 RGD

Function Evidence Code Pubs
enables phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity ISO
Inferred from Sequence Orthology
more info
  
enables phosphatidylinositol-3-phosphate phosphatase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables phosphatidylinositol-3-phosphate phosphatase activity ISO
Inferred from Sequence Orthology
more info
  
enables phosphatidylinositol-3-phosphate phosphatase activity ISS
Inferred from Sequence or Structural Similarity
more info
  
enables protein homodimerization activity ISO
Inferred from Sequence Orthology
more info
  
Process Evidence Code Pubs
involved_in phosphatidylinositol dephosphorylation IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in phosphatidylinositol dephosphorylation ISO
Inferred from Sequence Orthology
more info
  
involved_in regulation of phosphatidylinositol dephosphorylation ISO
Inferred from Sequence Orthology
more info
  
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytoplasm ISO
Inferred from Sequence Orthology
more info
  
located_in cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
  
is_active_in membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in plasma membrane ISO
Inferred from Sequence Orthology
more info
  
located_in plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
  

General protein information

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Preferred Names
myotubularin-related protein 1
NP_001178654.1
NP_001402624.1
XP_038952863.1
XP_038952865.1
XP_038952867.1
XP_038952868.1
XP_038952869.1
XP_063133525.1

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_001191725.4 → NP_001178654.1  myotubularin-related protein 1 isoform 1

    Status: VALIDATED

    Source sequence(s)
    JAXUCZ010000018
    UniProtKB/TrEMBL
    D3ZKK5
    Conserved Domains (2) summary
    cd13358
    Location:106 → 205
    PH-GRAM_MTMR1; Myotubularian related 1 protein (MTMR1) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
    pfam06602
    Location:212 → 547
    Myotub-related; Myotubularin-like phosphatase domain

  2. NM_001415695.1 → NP_001402624.1  myotubularin-related protein 1 isoform 2

    Status: VALIDATED

    Source sequence(s)
    JAXUCZ010000018
    UniProtKB/TrEMBL
    A0A0G2JUZ0
    Related
    ENSRNOP00000069284.1, ENSRNOT00000078032.3

RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

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

Reference GRCr8

Genomic

  1. NC_086036.1 Reference GRCr8

    Range
    229390..262893
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_039096941.2 → XP_038952869.1  myotubularin-related protein 1 isoform X6

    Conserved Domains (2) summary
    cd13358
    Location:131 → 230
    PH-GRAM_MTMR1; Myotubularian related 1 protein (MTMR1) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
    cl28904
    Location:247 → 387
    PTP_DSP_cys; cys-based protein tyrosine phosphatase and dual-specificity phosphatase superfamily

  2. XM_039096940.2 → XP_038952868.1  myotubularin-related protein 1 isoform X5

    Conserved Domains (2) summary
    cd13358
    Location:131 → 230
    PH-GRAM_MTMR1; Myotubularian related 1 protein (MTMR1) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
    pfam06602
    Location:247 → 507
    Myotub-related; Myotubularin-like phosphatase domain

  3. XM_063277455.1 → XP_063133525.1  myotubularin-related protein 1 isoform X1

    UniProtKB/TrEMBL
    A0A8I5Y1D5
    Related
    ENSRNOP00000077609.2, ENSRNOT00000097796.2

  4. XM_039096935.2 → XP_038952863.1  myotubularin-related protein 1 isoform X2

    UniProtKB/TrEMBL
    A0A8I5Y1D5
    Related
    ENSRNOP00000003638.5, ENSRNOT00000003638.8
    Conserved Domains (2) summary
    cd13358
    Location:123 → 222
    PH-GRAM_MTMR1; Myotubularian related 1 protein (MTMR1) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
    pfam06602
    Location:239 → 566
    Myotub-related; Myotubularin-like phosphatase domain

  5. XM_039096937.2 → XP_038952865.1  myotubularin-related protein 1 isoform X3

    UniProtKB/TrEMBL
    A0A8I5Y1D5
    Conserved Domains (2) summary
    cd13358
    Location:55 → 154
    PH-GRAM_MTMR1; Myotubularian related 1 protein (MTMR1) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
    pfam06602
    Location:171 → 498
    Myotub-related; Myotubularin-like phosphatase domain

  6. XM_039096939.2 → XP_038952867.1  myotubularin-related protein 1 isoform X4

    Conserved Domains (2) summary
    cd13358
    Location:38 → 137
    PH-GRAM_MTMR1; Myotubularian related 1 protein (MTMR1) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
    pfam06602
    Location:154 → 481
    Myotub-related; Myotubularin-like phosphatase domain
Nucleotide Protein Strain
Heading Accession and Version

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