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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 56
  • EC 3.1.3.95 4
  • EC 3.1.3.64 4
  • EC 3.1.3 56

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 Charcot-Marie-Tooth Disease and Neuropathy, Congenital Hypomyelinating Or Amyelinating, Autosomal Recessive. Among its related pathways are Metabolism and Glycerophospholipid biosynthesis. Gene Ontology (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

Additional gene information for MTMR1 Gene

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

Genomics for MTMR1 Gene

GeneHancer (GH) Regulatory Elements for MTMR1 Gene

Promoters and enhancers for MTMR1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XI150691 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE 580 +1.7 1699 6.9 NEUROD1 SIN3A YY1 GLIS2 ELK1 ZNF143 ATF7 RUNX3 SP3 REST MTMR1 LINC00894 CXorf40B MTM1 PIR43679
GH0XI150567 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE 27.7 -120.0 -120011 10.1 HDGF FOXA2 MLX ARID4B SIN3A IRF4 YY1 ZNF766 ZNF207 ZNF143 MTM1 MTMR1
GH0XI150687 Enhancer 0.8 Ensembl ENCODE 23.5 -3.5 -3548 3 STAT1 JUN MAX MNT FEZF1 BRCA1 RFX5 FOXA1 GATA3 JUND MTMR1 MTM1
GH0XI150580 Enhancer 0.8 Ensembl ENCODE 23.1 -111.6 -111632 1.4 GATA3 JUND FOXA2 SAP130 JUN USF2 FOSL2 FOS MTMR1 MTM1
GH0XI150846 Enhancer 1.4 FANTOM5 Ensembl ENCODE 13.1 +156.9 156858 5.9 FOXA2 ARID4B NEUROD1 SIN3A YY1 TCF12 FOS RXRA REST ZNF592 CD99L2 MTMR1 HMGB3 PPIAP91
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around MTMR1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MTMR1 gene promoter:

Genomic Locations for MTMR1 Gene

Genomic Locations for MTMR1 Gene
chrX:150,692,971-150,765,103
(GRCh38/hg38)
Size:
72,133 bases
Orientation:
Plus strand
chrX:149,861,435-149,933,576
(GRCh37/hg19)

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

Domains & Families for MTMR1 Gene

Gene Families for MTMR1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Plasma proteins
  • Predicted intracellular proteins

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.
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:

Clone Products

No data available for Phenotypes From GWAS Catalog , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MTMR1 gene
Compartment Confidence
cytosol 5
plasma membrane 4
nucleus 2
extracellular 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Microtubule organizing center (2)
See all subcellular structures

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

(4) 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
N-acetylmannosamine Investigational Pharma 0
NAD Pharma Full agonist, Agonist 0

(4) 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
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:

Clone 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 CGAP 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

Evidence on tissue expression from TISSUES for MTMR1 Gene

  • Nervous system(4.5)
  • Liver(4.2)
  • Muscle(2.1)
genes like me logo Genes that share expression patterns with MTMR1: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 33 34
  • 98.98 (n)
mouse
(Mus musculus)
Mammalia Mtmr1 33 16 34
  • 90.14 (n)
oppossum
(Monodelphis domestica)
Mammalia MTMR1 34
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MTMR1 34
  • 90 (a)
OneToOne
cow
(Bos Taurus)
Mammalia MTMR1 33 34
  • 89.46 (n)
dog
(Canis familiaris)
Mammalia MTMR1 33 34
  • 88.96 (n)
rat
(Rattus norvegicus)
Mammalia Mtmr1 33
  • 82.68 (n)
chicken
(Gallus gallus)
Aves MTMR1 33 34
  • 79.22 (n)
lizard
(Anolis carolinensis)
Reptilia MTMR1 34
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mtmr1 33
  • 78.75 (n)
Str.733 33
zebrafish
(Danio rerio)
Actinopterygii mtmr1b 33 34
  • 69.6 (n)
mtmr1a 34
  • 69 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta myotubularin 35
  • 54 (a)
mtm 34
  • 53 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea Y110A7A.5 35
  • 42 (a)
mtm-1 34
  • 41 (a)
OneToMany
T24A11.1a 35
  • 37 (a)
T24A11.1b 35
  • 37 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5340 34
  • 55 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.13323 33
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 Variation AA Info Type
rs1000049760 -- 150,694,411(+) G/C genic_upstream_transcript_variant, intron_variant
rs1000101547 -- 150,693,091(+) T/C genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000135329 -- 150,720,205(+) A/T intron_variant
rs1000257343 -- 150,735,004(+) C/T intron_variant
rs1000355766 -- 150,725,650(+) G/T intron_variant

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

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

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)

Additional Variant Information 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

(2) MalaCards diseases for MTMR1 Gene - From: DISEASES and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search MTMR1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for 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 58
  2. Crystal Structure of Human Myotubularin-Related Protein 1 Provides Insight into the Structural Basis of Substrate Specificity. (PMID: 27018598) Bong SM … Lee BI (PloS one 2016) 3 4 58
  3. Muscle-specific alternative splicing of myotubularin-related 1 gene is impaired in DM1 muscle cells. (PMID: 12217958) Buj-Bello A … Mandel JL (Human molecular genetics 2002) 3 22 58
  4. Myotubularin and MTMR2, phosphatidylinositol 3-phosphatases mutated in myotubular myopathy and type 4B Charcot-Marie-Tooth disease. (PMID: 11733541) Kim SA … Dixon JE (The Journal of biological chemistry 2002) 3 4 58
  5. Characterization of the myotubularin dual specificity phosphatase gene family from yeast to human. (PMID: 9736772) Laporte J … Mandel JL (Human molecular genetics 1998) 3 4 58

Products for MTMR1 Gene

Sources for MTMR1 Gene

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