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] See more...

Aliases for MTMR1 Gene

Aliases for MTMR1 Gene

  • Myotubularin Related Protein 1 2 3 5
  • Phosphatidylinositol-3,5-Bisphosphate 3-Phosphatase 3 4
  • Phosphatidylinositol-3-Phosphate Phosphatase 3 4
  • Myotubularin-Related Protein 1 3 4
  • EC 3.1.3.48 50
  • EC 3.1.3.95 4
  • EC 3.1.3.64 4
  • EC 3.1.3 50
  • MTMR1 5

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, X-Linked and Charcot-Marie-Tooth Disease, Type 4B1. Among its related pathways are Glycerophospholipid biosynthesis and superpathway of inositol phosphate compounds. 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 Summary 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 CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MTMR1 Gene

Genomics for MTMR1 Gene

GeneHancer (GH) Regulatory Elements Pubs

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
GH0XJ150691 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 279.9 +1.7 1708 6.9 IKZF1 ATF2 ZNF10 ZIC2 ZBTB10 SMAD5 TBP MNT NR2C1 ZNF217 MTMR1 LINC00894 EOLA2 MTM1 HSALNG0140647 CD99L2
GH0XJ150567 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 27.7 -120.2 -120158 10.4 SP1 SIX5 CEBPA ATF3 NFIC ZIC2 ZBTB10 YY1 BCL11A CTCF MTM1 MTMR1 HSALNG0140645 HSALNG0140646
GH0XJ150580 Enhancer 0.7 Ensembl ENCODE 23.1 -111.2 -111161 2.4 JUND FOXA2 SAP130 USF2 HNF4A ATF2 BHLHE40 ARID3A ZNF384 FOS MTMR1 MTM1 HSALNG0140645 HSALNG0140646
GH0XJ150841 Enhancer 1.3 FANTOM5 Ensembl ENCODE 13.1 +153.6 153638 12.4 NCOR1 IKZF1 CEBPA ATF3 YY1 FOXA1 HES1 BHLHE40 ZNF217 THAP11 piR-60051-115 CD99L2 MTMR1 HMGB3 HSALNG0140653 lnc-CXorf40B-2
GH0XJ150545 Promoter/Enhancer 1.1 ENCODE CraniofacialAtlas 15.2 -145.7 -145662 2.6 ZNF592 REST BHLHE40 KMT2B SMAD4 RARA DMAP1 GABPB1 RAD51 HNF4A lnc-MTM1-1 MTMR1 HSALNG0140642 MTM1 HSALNG0140641 MAMLD1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MTMR1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MTMR1

Top Transcription factor binding sites by QIAGEN in the MTMR1 gene promoter:
  • ATF-2
  • c-Jun
  • C/EBPbeta
  • Evi-1
  • Pax-4a
  • RFX1

Genomic Locations for MTMR1 Gene

Latest Assembly
chrX:150,692,962-150,765,108
(GRCh38/hg38)
Size:
72,147 bases
Orientation:
Plus strand

Previous Assembly
chrX:149,861,435-149,933,581
(GRCh37/hg19 by Entrez Gene)
Size:
72,147 bases
Orientation:
Plus strand

chrX:149,861,435-149,933,576
(GRCh37/hg19 by Ensembl)
Size:
72,142 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 Lys237
  • Modification sites at PhosphoSitePlus

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

GenScript: Design optimal peptide antigens:
  • cDNA FLJ56376, highly similar to Myotubularin-related protein 1 (EC 3.1.3.-) (B7Z3D5_HUMAN)
  • Myotubularin-related protein 1 (MTMR1_HUMAN)

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

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.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol-3,5-bisphosphate) + H2O = a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol-5-phosphate) + phosphate; Xref=Rhea:RHEA:39019, ChEBI:CHEBI:15377, ChEBI:CHEBI:43474, ChEBI:CHEBI:57795, ChEBI:CHEBI:57923; EC=3.1.3.95; Evidence={ECO:0000269|PubMed:27018598};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol-3-phosphate) + H2O = a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol) + phosphate; Xref=Rhea:RHEA:12316, ChEBI:CHEBI:15377, ChEBI:CHEBI:43474, ChEBI:CHEBI:57880, ChEBI:CHEBI:58088; EC=3.1.3.64; Evidence={ECO:0000269|PubMed:11733541, ECO:0000269|PubMed:27018598};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=1,2-dioctanoyl-sn-glycero-3-phospho-(1-D-myo-inositol-3-phosphate) + H2O = 1,2-dioctanoyl-sn-glycero-3-phospho-(1D-myo-inositol) + phosphate; Xref=Rhea:RHEA:42328, ChEBI:CHEBI:15377, ChEBI:CHEBI:43474, ChEBI:CHEBI:65221, ChEBI:CHEBI:78934; Evidence={ECO:0000269|PubMed:11733541};.
GENATLAS Biochemistry:
myotubularin related protein 1

Enzyme Numbers (IUBMB) for MTMR1 Gene

Phenotypes From GWAS Catalog 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 IEA,ISS --
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:
  • Mtmr1 Mtmr1<tm1Dgen>
  • Mtmr1 Mtmr1<tm2b(KOMP)Wtsi>

Animal Models for research

  • Taconic Biosciences Mouse Models for MTMR1

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MTMR1

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
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
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

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 ISS --
GO:0016020 membrane IEA,IBA 21873635
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

(5) Drugs for MTMR1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Water Approved Pharma 0
NAD Experimental Pharma 0
NADP Experimental Pharma 0
Phosphate Experimental Pharma 0
N-acetylmannosamine Investigational Pharma 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Beta-D-Fructose 2-phosphate
  • 2-O-Phosphono-beta-D-fructofuranose
  • 2-Phospho-beta-D-fructofuranose
  • beta-D-Fructofuranose 2-phosphate
  • 2-O-Phosphono-b-D-fructofuranose
  • 2-O-Phosphono-β-D-fructofuranose
D-Fructose
  • beta-D-Arabino-hexulose
  • beta-D-Fructose
  • beta-Fruit sugar
  • beta-Levulose
  • FRUCTOSE
53188-23-1
N-Acetyl-D-mannosamine 6-phosphate
  • 2-(Acetylamino)-2-deoxy-6-O-phosphono-alpha-D-mannopyranose
  • 2-Acetamido-2-deoxy-6-O-phosphono-alpha-D-mannopyranose
  • 2-Acetamido-2-deoxy-6-O-phosphono-alpha-D-mannose
  • 2-(Acetylamino)-2-deoxy-6-O-phosphono-a-D-mannopyranose
  • 2-(Acetylamino)-2-deoxy-6-O-phosphono-α-D-mannopyranose
873185-52-5
genes like me logo Genes that share compounds with MTMR1: view

Transcripts for MTMR1 Gene

mRNA/cDNA for MTMR1 Gene

11 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
14 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MTMR1

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

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, MaxQB, and MOPED for MTMR1 Gene



Protein tissue co-expression partners for MTMR1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MTMR1

SOURCE GeneReport for Unigene cluster for MTMR1 Gene:

Hs.347187

Evidence on tissue expression from TISSUES for MTMR1 Gene

  • Nervous system(4.6)
  • Liver(4.2)
  • Muscle(2.3)
genes like me logo Genes that share expression patterns with MTMR1: view

Primer products for research

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 29 30
  • 98.98 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Mtmr1 29 16 30
  • 90.14 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia MTMR1 30
  • 90 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia MTMR1 30
  • 90 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia MTMR1 29 30
  • 89.46 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia MTMR1 29 30
  • 88.96 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Mtmr1 29
  • 82.68 (n)
Chicken
(Gallus gallus)
Aves MTMR1 29 30
  • 79.22 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia MTMR1 30
  • 81 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia mtmr1 29
  • 78.75 (n)
Str.733 29
Zebrafish
(Danio rerio)
Actinopterygii mtmr1b 29 30
  • 69.6 (n)
OneToMany
mtmr1a 30
  • 69 (a)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta myotubularin 31
  • 54 (a)
mtm 30
  • 53 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea Y110A7A.5 31
  • 42 (a)
mtm-1 30
  • 41 (a)
OneToMany
T24A11.1a 31
  • 37 (a)
T24A11.1b 31
  • 37 (a)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.5340 30
  • 55 (a)
OneToMany
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.13323 29
Species where no ortholog for MTMR1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
Aminode:
Evolutionary constrained regions (ECRs) for MTMR1: view image
Alliance of Genome Resources:
Additional Orthologs for MTMR1

Paralogs for MTMR1 Gene

(9) SIMAP similar genes for MTMR1 Gene using alignment to 12 proteins:

  • MTMR1_HUMAN
  • B7Z3D5_HUMAN
  • E9PIH9_HUMAN
  • E9PPP8_HUMAN
  • F6X5S1_HUMAN
  • F8W764_HUMAN
  • F8W8S8_HUMAN
  • F8WA39_HUMAN
  • H0YDX3_HUMAN
  • H7BZJ1_HUMAN
  • H7C406_HUMAN
  • Q8NEC6_HUMAN
genes like me logo Genes that share paralogs with MTMR1: view

Variants for MTMR1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MTMR1 Gene

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
rs138910646 Benign: not provided 150,736,591(+) G/A
NM_001306144.3(MTMR1):c.1081-4G>A
INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for MTMR1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)

Additional Variant Information for MTMR1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MTMR1
Leiden Open Variation Database (LOVD)
MTMR1

SNP Genotyping and Copy Number Assays for research

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

Disorders for MTMR1 Gene

MalaCards: The human disease database

(7) MalaCards diseases for MTMR1 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
myopathy, centronuclear, x-linked
  • cnmx
charcot-marie-tooth disease, type 4b1
  • cmt4b1
centronuclear myopathy
  • myotubular myopathy
charcot-marie-tooth disease, type 4b2
  • cmt4b2
charcot-marie-tooth disease
  • cmt - charcot-marie-tooth disease
- 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
  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
  3. 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
  4. 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
  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

Products for MTMR1 Gene

Sources for MTMR1 Gene