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Mtmr1 myotubularin related protein 1 [ Mus musculus (house mouse) ]

Gene ID: 53332, updated on 21-Apr-2024

Summary

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Official Symbol
Mtmr1provided by MGI
Official Full Name
myotubularin related protein 1provided by MGI
Primary source
MGI:MGI:1858271
See related
Ensembl:ENSMUSG00000015214 AllianceGenome:MGI:1858271
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Summary
Enables phosphatidylinositol-3-phosphatase activity. Predicted to be involved in phosphatidylinositol dephosphorylation and regulation of phosphatidylinositol dephosphorylation. Predicted to act upstream of or within lipid metabolic process. Located in cytoplasm and plasma membrane. Is expressed in several structures, including alimentary system; brain; genitourinary system; integumental system; and sensory organ. Orthologous to human MTMR1 (myotubularin related protein 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in bladder adult (RPKM 7.3), frontal lobe adult (RPKM 4.3) and 28 other tissues See more
Orthologs
human all
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Genomic context

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Location:
X A7.3; X 36.75 cM
Exon count:
20
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) X NC_000086.8 (70408332..70462802)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) X NC_000086.7 (71364760..71419196)

Chromosome X - NC_000086.8Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E7692 Neighboring gene predicted gene 14730 Neighboring gene STARR-seq mESC enhancer starr_47322 Neighboring gene X-linked myotubular myopathy gene 1 Neighboring gene STARR-seq mESC enhancer starr_47323 Neighboring gene STARR-seq mESC enhancer starr_47324 Neighboring gene CD99 antigen-like 2 Neighboring gene ribosomal protein L36 pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. 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
  2. Characterization of the myotubularin dual specificity phosphatase gene family from yeast to human. Laporte J, et al. Hum Mol Genet, 1998 Oct. PMID 9736772
  3. SmcHD1, containing a structural-maintenance-of-chromosomes hinge domain, has a critical role in X inactivation. Blewitt ME, et al. Nat Genet, 2008 May. PMID 18425126
  4. Ptbp2 represses adult-specific splicing to regulate the generation of neuronal precursors in the embryonic brain. Licatalosi DD, et al. Genes Dev, 2012 Jul 15. PMID 22802532, Free PMC Article
  5. Epigenetic functions of smchd1 repress gene clusters on the inactive X chromosome and on autosomes. Gendrel AV, et al. Mol Cell Biol, 2013 Aug. PMID 23754746, Free PMC Article

See all (25) citations in PubMed

GeneRIFs: Gene References Into Functions

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Targeted (3) 
  • Endonuclease-mediated (2) 

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 MGI

Function Evidence Code Pubs
enables hydrolase activity IEA
Inferred from Electronic Annotation
more info
  
enables phosphatidylinositol phosphate phosphatase activity IEA
Inferred from Electronic Annotation
more info
  
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 IDA
Inferred from Direct Assay
more info
 PubMed 
enables phosphatidylinositol-3-phosphate phosphatase activity ISO
Inferred from Sequence Orthology
more info
  
enables protein homodimerization activity ISO
Inferred from Sequence Orthology
more info
  
Process Evidence Code Pubs
involved_in dephosphorylation IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within lipid metabolic process IEA
Inferred from Electronic Annotation
more info
  
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 IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytoplasm ISO
Inferred from Sequence Orthology
more info
  
is_active_in membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
myotubularin-related protein 1
Names
phosphatidylinositol-3,5-bisphosphate 3-phosphatase
phosphatidylinositol-3-phosphate phosphatase
NP_001300631.1
NP_001300632.1
NP_001300633.1
NP_001300635.1
NP_001300636.1
NP_058681.1
XP_006528199.1
XP_006528200.1
XP_036017901.1
XP_036017902.1
XP_036017903.1
XP_036017904.1
XP_036017905.1
XP_036017906.1

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_001313702.2 → NP_001300631.1  myotubularin-related protein 1 isoform D

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) represents the longest transcript and encodes the longest isoform (D).
    Source sequence(s)
    AL772294
    UniProtKB/TrEMBL
    I7HJQ9
    Conserved Domains (2) summary
    cd13358
    Location:145 → 244
    PH-GRAM_MTMR1; Myotubularian related 1 protein (MTMR1) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
    pfam06602
    Location:251 → 586
    Myotub-related; Myotubularin-like phosphatase domain

  2. NM_001313703.2 → NP_001300632.1  myotubularin-related protein 1 isoform B

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks two in-frame exons compared to variant 4. The resulting isoform (B) has the same N- and C-termini but is shorter compared to isoform D.
    Source sequence(s)
    AL772294
    UniProtKB/TrEMBL
    I7HJQ9
    Conserved Domains (2) summary
    cd13358
    Location:119 → 218
    PH-GRAM_MTMR1; Myotubularian related 1 protein (MTMR1) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
    pfam06602
    Location:225 → 560
    Myotub-related; Myotubularin-like phosphatase domain

  3. NM_001313704.2 → NP_001300633.1  myotubularin-related protein 1 isoform C

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks an in-frame exon compared to variant 4. The resulting isoform (C) has the same N- and C-termini but is shorter compared to isoform D.
    Source sequence(s)
    AL772294
    UniProtKB/TrEMBL
    I7HJQ9
    Conserved Domains (2) summary
    cd13358
    Location:128 → 227
    PH-GRAM_MTMR1; Myotubularian related 1 protein (MTMR1) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
    pfam06602
    Location:234 → 569
    Myotub-related; Myotubularin-like phosphatase domain

  4. NM_001313706.2 → NP_001300635.1  myotubularin-related protein 1 isoform E

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) lacks two in-frame exons compared to variant 4. The resulting isoform (E) has the same N- and C-termini but is shorter compared to isoform D.
    Source sequence(s)
    AL772294
    UniProtKB/TrEMBL
    I7HJQ9
    Conserved Domains (2) summary
    cd13358
    Location:128 → 227
    PH-GRAM_MTMR1; Myotubularian related 1 protein (MTMR1) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
    pfam06602
    Location:234 → 569
    Myotub-related; Myotubularin-like phosphatase domain

  5. NM_001313707.2 → NP_001300636.1  myotubularin-related protein 1 isoform F

    Status: VALIDATED

    Description
    Transcript Variant: This variant (6) lacks an in-frame exon compared to variant 4. The resulting isoform (F) has the same N- and C-termini but is shorter compared to isoform D.
    Source sequence(s)
    AL772294
    UniProtKB/TrEMBL
    I7HJQ9
    Conserved Domains (2) summary
    cd13358
    Location:136 → 235
    PH-GRAM_MTMR1; Myotubularian related 1 protein (MTMR1) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
    pfam06602
    Location:242 → 577
    Myotub-related; Myotubularin-like phosphatase domain

  6. NM_016985.3 → NP_058681.1  myotubularin-related protein 1 isoform A

    See identical proteins and their annotated locations for NP_058681.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) lacks three in-frame exons compared to variant 4. The resulting isoform (A) has the same N- and C-termini but is shorter compared to isoform D.
    Source sequence(s)
    AL772294
    Consensus CDS
    CCDS30178.1
    UniProtKB/Swiss-Prot
    Q9Z2C4
    UniProtKB/TrEMBL
    I7HJQ9
    Related
    ENSMUSP00000015358.2, ENSMUST00000015358.8
    Conserved Domains (2) summary
    cd13358
    Location:111 → 210
    PH-GRAM_MTMR1; Myotubularian related 1 protein (MTMR1) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
    pfam06602
    Location:217 → 552
    Myotub-related; Myotubularin-like phosphatase domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000086.8 Reference GRCm39 C57BL/6J

    Range
    70408332..70462802
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_036162009.1 → XP_036017902.1  myotubularin-related protein 1 isoform X2

    UniProtKB/TrEMBL
    I7HJQ9
    Conserved Domains (2) summary
    cd13358
    Location:137 → 236
    PH-GRAM_MTMR1; Myotubularian related 1 protein (MTMR1) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
    pfam06602
    Location:253 → 579
    Myotub-related; Myotubularin-like phosphatase domain

  2. XM_036162010.1 → XP_036017903.1  myotubularin-related protein 1 isoform X3

    UniProtKB/TrEMBL
    I7HJQ9
    Conserved Domains (2) summary
    cd13358
    Location:129 → 228
    PH-GRAM_MTMR1; Myotubularian related 1 protein (MTMR1) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
    pfam06602
    Location:245 → 571
    Myotub-related; Myotubularin-like phosphatase domain

  3. XM_036162013.1 → XP_036017906.1  myotubularin-related protein 1 isoform X6

    UniProtKB/TrEMBL
    I7HJQ9
    Conserved Domains (2) summary
    cd13358
    Location:111 → 210
    PH-GRAM_MTMR1; Myotubularian related 1 protein (MTMR1) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
    cd14592
    Location:244 → 488
    PTP-MTMR1; protein tyrosine phosphatase-like domain of myotubularin related phosphoinositide phosphatase 1

  4. XM_036162008.1 → XP_036017901.1  myotubularin-related protein 1 isoform X1

    UniProtKB/TrEMBL
    I7HJQ9
    Conserved Domains (2) summary
    cd13358
    Location:146 → 245
    PH-GRAM_MTMR1; Myotubularian related 1 protein (MTMR1) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
    pfam06602
    Location:262 → 588
    Myotub-related; Myotubularin-like phosphatase domain

  5. XM_036162011.1 → XP_036017904.1  myotubularin-related protein 1 isoform X4

    UniProtKB/TrEMBL
    I7HJQ9
    Conserved Domains (2) summary
    cd13358
    Location:146 → 245
    PH-GRAM_MTMR1; Myotubularian related 1 protein (MTMR1) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
    cd14592
    Location:279 → 523
    PTP-MTMR1; protein tyrosine phosphatase-like domain of myotubularin related phosphoinositide phosphatase 1

  6. XM_036162012.1 → XP_036017905.1  myotubularin-related protein 1 isoform X5

    UniProtKB/TrEMBL
    I7HJQ9
    Conserved Domains (2) summary
    cd13358
    Location:128 → 227
    PH-GRAM_MTMR1; Myotubularian related 1 protein (MTMR1) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
    cd14592
    Location:261 → 505
    PTP-MTMR1; protein tyrosine phosphatase-like domain of myotubularin related phosphoinositide phosphatase 1

  7. XM_006528137.5 → XP_006528200.1  myotubularin-related protein 1 isoform X7

    See identical proteins and their annotated locations for XP_006528200.1

    UniProtKB/TrEMBL
    I7HJQ9
    Conserved Domains (2) summary
    cd13358
    Location:13 → 112
    PH-GRAM_MTMR1; Myotubularian related 1 protein (MTMR1) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
    pfam06602
    Location:119 → 455
    Myotub-related; Myotubularin-like phosphatase domain

  8. XM_006528136.5 → XP_006528199.1  myotubularin-related protein 1 isoform X7

    See identical proteins and their annotated locations for XP_006528199.1

    UniProtKB/TrEMBL
    I7HJQ9
    Conserved Domains (2) summary
    cd13358
    Location:13 → 112
    PH-GRAM_MTMR1; Myotubularian related 1 protein (MTMR1) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
    pfam06602
    Location:119 → 455
    Myotub-related; Myotubularin-like phosphatase domain
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9Z2C4.1 GenPept UniProtKB/Swiss-Prot:Q9Z2C4

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