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Aliases for MTMR1 Gene

Aliases for MTMR1 Gene

  • Myotubularin Related Protein 1 2 3 5
  • Phosphatidylinositol-3,5-Bisphosphate 3-Phosphatase 4
  • Phosphatidylinositol-3-Phosphate Phosphatase 4
  • EC 3.1.3.48 61
  • EC 3.1.3.95 4
  • EC 3.1.3.64 4
  • EC 3.1.3 61

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. Diseases associated with MTMR1 include Myopathy, Centronuclear. Among its related pathways are Metabolism and PI Metabolism. GO annotations related to this gene include 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 4-phosphate, phosphatidylinositol (4,5)-bisphosphate and phosphatidylinositol (3,4,5)-trisphosphate (PubMed:11733541, PubMed:27018598). Activity with phosphatidylinositol (3,5)-bisphosphate is controversial; it has been shown by PubMed:27018598, while PubMed:11733541 find no activity with this substrate.

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

Enhancers for MTMR1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH0XF150691 1 FANTOM5 ENCODE 30 +1.7 1699 6.9 SIN3A YY1 GLIS2 ELK1 ZNF143 SP3 REST ZNF623 KAT8 GLIS1 MTMR1 LINC00894 CXorf40B MAGEA8 MTM1 PIR43679
GH0XF150567 1 FANTOM5 ENCODE 27.6 -120.0 -120012 10.1 CREB3L1 MLX ARID4B SIN3A YY1 ZNF143 ZNF207 FOS ZNF263 SP3 MTMR1 VMA21 MTM1
GH0XF150711 1 Ensembl 24.2 +18.7 18730 0.2 MTMR1 PIR43679
GH0XF150702 0.8 Ensembl ENCODE 24.2 +10.8 10774 2.3 CTCF ZNF146 ZNF654 CBFB JUN REST ZIC2 RAD21 ATF2 JUND MTMR1 PIR43679
GH0XF150687 0.7 Ensembl ENCODE 23.5 -3.5 -3549 3.0 STAT1 JUN MAX MNT FEZF1 BRCA1 RFX5 GATA3 JUND GLIS1 MTMR1 MTM1
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around MTMR1 on UCSC Golden Path with GeneCards custom track

Promoters for MTMR1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001492128 729 2601 HDAC1 ZBTB40 YY1 GLIS2 EGR1 ELK1 SCRT2 ZNF143 THAP11 ELK4

Genomic Location for MTMR1 Gene

Chromosome:
X
Start:
150,692,971 bp from pter
End:
150,765,103 bp from pter
Size:
72,133 bases
Orientation:
Plus strand

Genomic View for MTMR1 Gene

Genes around MTMR1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MTMR1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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:
    • Homodimer.

    Three dimensional structures from OCA and Proteopedia for MTMR1 Gene

    Alternative splice isoforms for MTMR1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MTMR1 Gene

Selected DME Specific Peptides for MTMR1 Gene

Q13613:
  • VLYPVAS
  • LAMLMLD
  • NAELVFL
  • KEDEKYLQ
  • PVLSWIHPESQATITRCSQP
  • IHNIHVMRESLRKLKEIVYP
  • SLWSYINSQL
  • HCSDGWDRT
  • FLITILDHLYSC
  • DCVWQMTRQFP
  • CKDMRNLR
  • HLELWVNYY
  • LDSYYRT
  • PVLSWIHPE

Post-translational modifications for MTMR1 Gene

  • Ubiquitination at Lys 237
  • Modification sites at PhosphoSitePlus

Domains & Families for MTMR1 Gene

Gene Families for MTMR1 Gene

Suggested Antigen Peptide Sequences for MTMR1 Gene

Graphical View of Domain Structure for InterPro Entry

Q13613

UniProtKB/Swiss-Prot:

MTMR1_HUMAN :
  • The C-terminal region is required for dimerization.
  • Belongs to the protein-tyrosine phosphatase family. Non-receptor class myotubularin subfamily.
Domain:
  • The C-terminal region is required for dimerization.
  • 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 3,5-bisphosphate + H(2)O = 1-phosphatidyl-1D-myo-inositol 5-phosphate + phosphate.
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 4-phosphate, phosphatidylinositol (4,5)-bisphosphate and phosphatidylinositol (3,4,5)-trisphosphate (PubMed:11733541, PubMed:27018598). Activity with phosphatidylinositol (3,5)-bisphosphate is controversial; it has been shown by PubMed:27018598, while PubMed:11733541 find no activity with this substrate.

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 TAS --
GO:0004725 protein tyrosine phosphatase activity IEA --
GO:0016787 hydrolase activity IEA --
GO:0016791 phosphatase activity IEA --
GO:0042803 protein homodimerization activity IPI 27018598
genes like me logo Genes that share ontologies with MTMR1: view
genes like me logo Genes that share phenotypes with MTMR1: view

Animal Models for MTMR1 Gene

MGI Knock Outs for MTMR1:

Animal Model Products

  • Taconic Biosciences Mouse Models for MTMR1

Inhibitory RNA Products

Flow Cytometry Products

No data available for Human Phenotype Ontology , Transcription Factor Targets 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
cytosol 5
plasma membrane 4
nucleus 2
extracellular 1

Gene Ontology (GO) - Cellular Components for MTMR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA,ISS --
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane IEA,ISS --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with MTMR1: view

Pathways & Interactions for MTMR1 Gene

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

Gene Ontology (GO) - Biological Process for MTMR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IEA --
GO:0006661 phosphatidylinositol biosynthetic process TAS --
GO:0016311 dephosphorylation IEA --
GO:0035335 peptidyl-tyrosine dephosphorylation IEA --
GO:0046856 phosphatidylinositol dephosphorylation IEA,IDA 11733541
genes like me logo Genes that share ontologies with MTMR1: view

No data available for SIGNOR curated interactions for MTMR1 Gene

Drugs & Compounds for MTMR1 Gene

(3) Drugs for MTMR1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
Water Approved Pharma 0
NAD Pharma Full agonist, Agonist 0

(5) Additional Compounds for MTMR1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Beta-D-Fructose 2-phosphate
  • beta-D-Fructofuranose 2-phosphate
  • beta-D-Fructose 2-phosphate
D-Fructose
  • beta-D-Arabino-hexulose
  • beta-D-Fructofuranose
  • beta-D-Fructose
  • beta-delta-Arabino-hexulose
  • beta-delta-Fructofuranose
53188-23-1
N-Acetyl-D-mannosamine 6-phosphate
  • ManNAc-6-P
  • N-Acetyl-D-mannosamine 6-phosphate
  • N-Acetyl-D-mannosamine-6-P
  • N-Acetyl-D-mannosamine-6-phosphate
  • N-Acetylmannosamine-6-P
873185-52-5
N-Acetylmannosamine
  • 2-Acetamido-2-deoxy-D-mannopyranose
  • 2-Acetamido-2-deoxy-D-mannose
  • ManNAc
  • N-Acetyl-D-mannosamine
  • N-Acetylmannosamine
3615-17-6
NADP
  • Adenine-nicotinamide dinucleotide phosphate
  • b-NADP
  • b-Nicotinamide adenine dinucleotide phosphate
  • b-TPN
  • beta-NADP
53-59-8
genes like me logo Genes that share compounds with MTMR1: view

Transcripts for MTMR1 Gene

Unigene Clusters for MTMR1 Gene

Myotubularin related protein 1:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and SAGE for MTMR1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for MTMR1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (8.9) and Frontal cortex (8.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for MTMR1 Gene



Protein tissue co-expression partners for MTMR1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of MTMR1 Gene:

MTMR1

SOURCE GeneReport for Unigene cluster for MTMR1 Gene:

Hs.347187
genes like me logo Genes that share expression patterns with MTMR1: view

Primer Products

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 34 35
  • 98.98 (n)
mouse
(Mus musculus)
Mammalia Mtmr1 34 16 35
  • 90.14 (n)
oppossum
(Monodelphis domestica)
Mammalia MTMR1 35
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MTMR1 35
  • 90 (a)
OneToOne
cow
(Bos Taurus)
Mammalia MTMR1 34 35
  • 89.46 (n)
dog
(Canis familiaris)
Mammalia MTMR1 34 35
  • 88.96 (n)
rat
(Rattus norvegicus)
Mammalia Mtmr1 34
  • 82.68 (n)
chicken
(Gallus gallus)
Aves MTMR1 34 35
  • 79.22 (n)
lizard
(Anolis carolinensis)
Reptilia MTMR1 35
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mtmr1 34
  • 78.75 (n)
Str.733 34
zebrafish
(Danio rerio)
Actinopterygii mtmr1b 34 35
  • 69.6 (n)
mtmr1a 35
  • 69 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta myotubularin 36
  • 54 (a)
mtm 35
  • 53 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea Y110A7A.5 36
  • 42 (a)
mtm-1 35
  • 41 (a)
OneToMany
T24A11.1a 36
  • 37 (a)
T24A11.1b 36
  • 37 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5340 35
  • 55 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.13323 34
Species where no ortholog for MTMR1 was found in the sources mined by GeneCards:
  • 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

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
rs1004916 -- 150,736,290(+) ctggg(A/G)ctatc intron-variant, utr-variant-3-prime
rs1045889 -- 150,764,342(+) ATAAC(C/T)TAAAA intron-variant, nc-transcript-variant, utr-variant-3-prime
rs10856257 -- 150,705,770(+) GAAGA(A/G)AGAAC intron-variant
rs111451006 -- 150,709,902(+) AAACT(A/T)TATCA intron-variant
rs111643990 -- 150,744,763(+) AGTCT(C/T)CTGCT intron-variant

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

Variant ID Type Subtype PubMed ID
dgv2527e212 CNV gain 25503493
esv26367 CNV loss 19812545
esv2678023 CNV deletion 23128226
esv2740597 CNV deletion 23290073
esv3574979 CNV loss 25503493
esv3577528 CNV gain 25503493
esv8745 CNV gain 19470904
nsv475319 CNV novel sequence insertion 20440878
nsv508811 CNV insertion 20534489
nsv508813 CNV insertion 20534489
nsv525661 CNV gain 19592680

Variation tolerance for MTMR1 Gene

Residual Variation Intolerance Score: 38.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.77; 16.32% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MTMR1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MTMR1

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

Disorders for MTMR1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for MTMR1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
myopathy, centronuclear
  • centronuclear myopathy, autosomal, modifier of
- elite association - COSMIC cancer census association via MalaCards
Search MTMR1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for MTMR1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MTMR1
genes like me logo Genes that share disorders with MTMR1: view

No data available for UniProtKB/Swiss-Prot and Genatlas 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 22 64
  2. Crystal structure of human myotubularin-related protein 1 provides insight into the structural basis of substrate specificity. (PMID: 27018598) Bong S.M. … Lee B.I. (PLoS ONE 2016) 3 4 64
  3. 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 64
  4. 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 22 64
  5. 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 64

Products for MTMR1 Gene

Sources for MTMR1 Gene

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