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Aliases for MTMR1 Gene

Aliases for MTMR1 Gene

  • Myotubularin Related Protein 1 2 3
  • Phosphatidylinositol-3-Phosphate Phosphatase 4
  • EC 3.1.3.48 63
  • EC 3.1.3.64 4
  • EC 3.1.3 63

External Ids for MTMR1 Gene

Previous GeneCards Identifiers for MTMR1 Gene

  • GC0XP144160
  • GC0XP146545
  • GC0XP147632
  • GC0XP148502
  • GC0XP149532
  • GC0XP149861
  • GC0XP138746

Summaries for MTMR1 Gene

Entrez Gene Summary for MTMR1 Gene

  • This gene encodes a member of the myotubularin related family of proteins. Members of this family contain the consensus sequence for the active site of protein tyrosine phosphatases. Alternatively spliced variants have been described but their biological validity has not been determined. [provided by RefSeq, Jul 2008]

GeneCards Summary for MTMR1 Gene

MTMR1 (Myotubularin Related Protein 1) is a Protein Coding gene. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include protein tyrosine phosphatase activity and phosphatidylinositol-3-phosphatase activity. An important paralog of this gene is MTMR2.

UniProtKB/Swiss-Prot for MTMR1 Gene

  • Lipid phosphatase that has high specificity for phosphatidylinositol 3-phosphate and has no activity with phosphatidylinositol (3,5)-bisphosphate.

Gene Wiki entry for MTMR1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MTMR1 Gene

Genomics for MTMR1 Gene

Regulatory Elements for MTMR1 Gene

Genomic Location for MTMR1 Gene

Start:
150,692,968 bp from pter
End:
150,765,103 bp from pter
Size:
72,136 bases
Orientation:
Plus strand

Genomic View for MTMR1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for MTMR1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MTMR1 Gene

Proteins for MTMR1 Gene

  • Protein details for MTMR1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13613-MTMR1_HUMAN
    Recommended name:
    Myotubularin-related protein 1
    Protein Accession:
    Q13613
    Secondary Accessions:
    • A0A024RC07
    • Q9UBX6
    • Q9UEM0
    • Q9UQD5

    Protein attributes for MTMR1 Gene

    Size:
    665 amino acids
    Molecular mass:
    74678 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for MTMR1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MTMR1 Gene

Proteomics data for MTMR1 Gene at MOPED

Post-translational modifications for MTMR1 Gene

  • Ubiquitination at Lys237
  • Modification sites at PhosphoSitePlus

Domains for MTMR1 Gene

Gene Families for MTMR1 Gene

HGNC:
  • DUSPM :Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins

Suggested Antigen Peptide Sequences for MTMR1 Gene

Graphical View of Domain Structure for InterPro Entry

Q13613

UniProtKB/Swiss-Prot:

MTMR1_HUMAN :
  • Q13613
Domain:
  • Contains 1 GRAM domain.
  • Contains 1 myotubularin phosphatase domain.
Family:
  • Belongs to the protein-tyrosine phosphatase family. Non-receptor class myotubularin subfamily.
genes like me logo Genes that share domains with MTMR1: view

Function for MTMR1 Gene

Molecular function for MTMR1 Gene

GENATLAS Biochemistry: myotubularin related protein 1
UniProtKB/Swiss-Prot CatalyticActivity: 1-phosphatidyl-1D-myo-inositol 3-phosphate + H(2)O = 1-phosphatidyl-1D-myo-inositol + phosphate.
UniProtKB/Swiss-Prot Function: Lipid phosphatase that has high specificity for phosphatidylinositol 3-phosphate and has no activity with phosphatidylinositol (3,5)-bisphosphate.

Enzyme Numbers (IUBMB) for MTMR1 Gene

Gene Ontology (GO) - Molecular Function for MTMR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004438 phosphatidylinositol-3-phosphatase activity ISS --
GO:0004725 protein tyrosine phosphatase activity IEA --
GO:0016791 phosphatase activity --
GO:0052629 phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity IEA --
genes like me logo Genes that share ontologies with MTMR1: view

Phenotypes for MTMR1 Gene

MGI mutant phenotypes for MTMR1:
inferred from 1 alleles
GenomeRNAi human phenotypes for MTMR1:
genes like me logo Genes that share phenotypes with MTMR1: view

miRNA for MTMR1 Gene

miRTarBase miRNAs that target MTMR1

No data available for Animal Models , Transcription Factor Targeting and HOMER Transcription for MTMR1 Gene

Localization for MTMR1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MTMR1 Gene

Cell membrane; Peripheral membrane protein; Cytoplasmic side. Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MTMR1 Gene COMPARTMENTS Subcellular localization image for MTMR1 gene
Compartment Confidence
plasma membrane 5
cytosol 4
nucleus 2
extracellular 1

Gene Ontology (GO) - Cellular Components for MTMR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm ISS --
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane ISS --
genes like me logo Genes that share ontologies with MTMR1: view

Pathways for MTMR1 Gene

genes like me logo Genes that share pathways with MTMR1: view

Interacting Proteins for MTMR1 Gene

Gene Ontology (GO) - Biological Process for MTMR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006644 phospholipid metabolic process TAS --
GO:0006661 phosphatidylinositol biosynthetic process TAS --
GO:0016311 dephosphorylation --
GO:0035335 peptidyl-tyrosine dephosphorylation IEA --
GO:0044281 small molecule metabolic process TAS --
genes like me logo Genes that share ontologies with MTMR1: view

Transcripts for MTMR1 Gene

Unigene Clusters for MTMR1 Gene

Myotubularin related protein 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for MTMR1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13a · 13b ^ 14 ^ 15a · 15b ^ 16a · 16b ^ 17a · 17b ^ 18a · 18b ^ 19a ·
SP1: - - - - - -
SP2: - - - - - - -
SP3: - - - - - - -
SP4: - -
SP5:
SP6: -
SP7: - - -
SP8: - -

ExUns: 19b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:

Relevant External Links for MTMR1 Gene

GeneLoc Exon Structure for
MTMR1
ECgene alternative splicing isoforms for
MTMR1

Expression for MTMR1 Gene

mRNA expression in normal human tissues for MTMR1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for MTMR1 Gene

SOURCE GeneReport for Unigene cluster for MTMR1 Gene Hs.347187

genes like me logo Genes that share expressions with MTMR1: view

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for MTMR1 Gene

Orthologs for MTMR1 Gene

This gene was present in the common ancestor of animals.

Orthologs for MTMR1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MTMR1 35
  • 98.98 (n)
  • 98.63 (a)
MTMR1 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia MTMR1 35
  • 89.46 (n)
  • 93.98 (a)
MTMR1 36
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MTMR1 35
  • 88.96 (n)
  • 94.32 (a)
MTMR1 36
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mtmr1 35
  • 90.14 (n)
  • 94.21 (a)
Mtmr1 16
Mtmr1 36
  • 93 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MTMR1 36
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MTMR1 36
  • 90 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mtmr1 35
  • 82.68 (n)
  • 90.77 (a)
chicken
(Gallus gallus)
Aves MTMR1 35
  • 79.22 (n)
  • 88.59 (a)
MTMR1 36
  • 86 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MTMR1 36
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mtmr1 35
  • 78.75 (n)
  • 87.34 (a)
Str.733 35
zebrafish
(Danio rerio)
Actinopterygii mtmr1a 36
  • 69 (a)
OneToMany
mtmr1b 35
  • 69.6 (n)
  • 72.97 (a)
mtmr1b 36
  • 69 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta mtm 36
  • 53 (a)
OneToMany
myotubularin 37
  • 54 (a)
worm
(Caenorhabditis elegans)
Secernentea mtm-1 36
  • 41 (a)
OneToMany
T24A11.1a 37
  • 37 (a)
Y110A7A.5 37
  • 42 (a)
T24A11.1b 37
  • 37 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.13323 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5340 36
  • 55 (a)
OneToMany
Species with no ortholog for MTMR1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for MTMR1 Gene

ENSEMBL:
Gene Tree for MTMR1 (if available)
TreeFam:
Gene Tree for MTMR1 (if available)

Paralogs for MTMR1 Gene

genes like me logo Genes that share paralogs with MTMR1: view

Variants for MTMR1 Gene

Sequence variations from dbSNP and Humsavar for MTMR1 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type MAF
rs7134 -- 150,764,868(+) TGTAT(C/T)TGTCT utr-variant-3-prime
rs15061 -- 150,764,793(+) TTTTT(G/T)TTTTA utr-variant-3-prime
rs178433 -- 150,696,911(-) GAAGG(G/T)TGACC intron-variant
rs222346 -- 150,693,741(-) cgggc(G/T)ggcct intron-variant
rs222349 -- 150,717,142(-) GACCT(C/G)GTGAT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for MTMR1 Gene

Variant ID Type Subtype PubMed ID
nsv508811 CNV Insertion 20534489
nsv525661 CNV Gain 19592680
esv8745 CNV Gain 19470904
nsv508813 CNV Insertion 20534489
esv26367 CNV Loss 19812545
esv2678023 CNV Deletion 23128226
esv2740597 CNV Deletion 23290073

Relevant External Links for MTMR1 Gene

HapMap Linkage Disequilibrium report
MTMR1
Locus Specific Mutation Databases (LSDB)
MTMR1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MTMR1 Gene

Disorders for MTMR1 Gene

(2) University of Copenhagen DISEASES for MTMR1 Gene

genes like me logo Genes that share disorders with MTMR1: view

No data available for UniProtKB/Swiss-Prot for MTMR1 Gene

Publications for MTMR1 Gene

  1. Genomic organization of a 225-kb region in Xq28 containing the gene for X-linked myotubular myopathy (MTM1) and a related gene (MTMR1). (PMID: 9828128) Kioschis P. … Rosenthal A. (Genomics 1998) 2 3 4 23
  2. Muscle-specific alternative splicing of myotubularin-related 1 gene is impaired in DM1 muscle cells. (PMID: 12217958) Buj-Bello A. … Mandel J.L. (Hum. Mol. Genet. 2002) 3 23
  3. A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast. (PMID: 8640223) Laporte J. … Dahl N. (Nat. Genet. 1996) 3 4
  4. Characterization of the myotubularin dual specificity phosphatase gene family from yeast to human. (PMID: 9736772) Laporte J. … Mandel J.-L. (Hum. Mol. Genet. 1998) 3 4
  5. Myotubularin and MTMR2, phosphatidylinositol 3-phosphatases mutated in myotubular myopathy and type 4B Charcot-Marie-Tooth disease. (PMID: 11733541) Kim S.A. … Dixon J.E. (J. Biol. Chem. 2002) 3 4

Products for MTMR1 Gene

Sources for MTMR1 Gene

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