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Aliases for MTMR3 Gene

Aliases for MTMR3 Gene

  • Myotubularin Related Protein 3 2 3 5
  • FYVE Domain-Containing Dual Specificity Protein Phosphatase 1 3 4
  • Phosphatidylinositol-3,5-Bisphosphate 3-Phosphatase 3 4
  • Zinc Finger FYVE Domain-Containing Protein 10 3 4
  • Phosphatidylinositol-3-Phosphate Phosphatase 3 4
  • EC 3.1.3.48 4 63
  • FYVE-DSP1 3 4
  • ZFYVE10 3 4
  • FYVE (Fab1 YGLO23 Vsp27 EEA1 Domain) Dual-Specificity Protein Phosphatase 3
  • Zinc Finger, FYVE Domain Containing 10 3
  • EC 3.1.3.95 4
  • EC 3.1.3.64 4
  • KIAA0371 4

External Ids for MTMR3 Gene

Previous GeneCards Identifiers for MTMR3 Gene

  • GC22P026975
  • GC22P028603
  • GC22P030279
  • GC22P013241

Summaries for MTMR3 Gene

Entrez Gene Summary for MTMR3 Gene

  • This gene encodes a member of the myotubularin dual specificity protein phosphatase gene family. The encoded protein is structurally similar to myotubularin but in addition contains a FYVE domain and an N-terminal PH-GRAM domain. The protein can self-associate and also form heteromers with another myotubularin related protein. The protein binds to phosphoinositide lipids through the PH-GRAM domain, and can hydrolyze phosphatidylinositol(3)-phosphate and phosphatidylinositol(3,5)-biphosphate in vitro. The encoded protein has been observed to have a perinuclear, possibly membrane-bound, distribution in cells, but it has also been found free in the cytoplasm. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for MTMR3 Gene

MTMR3 (Myotubularin Related Protein 3) is a Protein Coding gene. Diseases associated with MTMR3 include adult syndrome and myopathy, centronuclear. Among its related pathways are Metabolism and Cellular Senescence. GO annotations related to this gene include phosphatase activity and protein serine/threonine phosphatase activity. An important paralog of this gene is MTMR2.

UniProtKB/Swiss-Prot for MTMR3 Gene

  • Phosphatase that acts on lipids with a phosphoinositol headgroup. Has phosphatase activity towards phosphatidylinositol 3-phosphate and phosphatidylinositol 3,5-bisphosphate. May also dephosphorylate proteins phosphorylated on Ser, Thr, and Tyr residues (PubMed:10733931).

Gene Wiki entry for MTMR3 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MTMR3 Gene

Genomics for MTMR3 Gene

Regulatory Elements for MTMR3 Gene

Promoters for MTMR3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around MTMR3 on UCSC Golden Path with GeneCards custom track

Genomic Location for MTMR3 Gene

Chromosome:
22
Start:
29,883,155 bp from pter
End:
30,030,868 bp from pter
Size:
147,714 bases
Orientation:
Plus strand

Genomic View for MTMR3 Gene

Genes around MTMR3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MTMR3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MTMR3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MTMR3 Gene

Proteins for MTMR3 Gene

  • Protein details for MTMR3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13615-MTMR3_HUMAN
    Recommended name:
    Myotubularin-related protein 3
    Protein Accession:
    Q13615
    Secondary Accessions:
    • A5PL26
    • A7MD32
    • Q9NYN5
    • Q9NYN6
    • Q9UDX6
    • Q9UEG3

    Protein attributes for MTMR3 Gene

    Size:
    1198 amino acids
    Molecular mass:
    133619 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAA20826.2; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for MTMR3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MTMR3 Gene

Proteomics data for MTMR3 Gene at MOPED

Selected DME Specific Peptides for MTMR3 Gene

Post-translational modifications for MTMR3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MTMR3 Gene

Domains & Families for MTMR3 Gene

Suggested Antigen Peptide Sequences for MTMR3 Gene

Graphical View of Domain Structure for InterPro Entry

Q13615

UniProtKB/Swiss-Prot:

MTMR3_HUMAN :
  • Contains 1 myotubularin phosphatase domain.
  • Belongs to the protein-tyrosine phosphatase family. Non-receptor class myotubularin subfamily.
  • Contains 1 FYVE-type zinc finger.
Domain:
  • Contains 1 myotubularin phosphatase domain.
Family:
  • Belongs to the protein-tyrosine phosphatase family. Non-receptor class myotubularin subfamily.
Similarity:
  • Contains 1 FYVE-type zinc finger.
genes like me logo Genes that share domains with MTMR3: view

Function for MTMR3 Gene

Molecular function for MTMR3 Gene

GENATLAS Biochemistry:
myotubularin related protein 3,expressed in skeletal muscle,heart,placenta,brain,liver and pancreas
UniProtKB/Swiss-Prot CatalyticActivity:
1-phosphatidyl-1D-myo-inositol 3-phosphate + H(2)O = 1-phosphatidyl-1D-myo-inositol + phosphate.
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:
Protein tyrosine phosphate + H(2)O = protein tyrosine + phosphate.
UniProtKB/Swiss-Prot Function:
Phosphatase that acts on lipids with a phosphoinositol headgroup. Has phosphatase activity towards phosphatidylinositol 3-phosphate and phosphatidylinositol 3,5-bisphosphate. May also dephosphorylate proteins phosphorylated on Ser, Thr, and Tyr residues (PubMed:10733931).

Enzyme Numbers (IUBMB) for MTMR3 Gene

Gene Ontology (GO) - Molecular Function for MTMR3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004722 protein serine/threonine phosphatase activity IDA,TAS --
genes like me logo Genes that share ontologies with MTMR3: view
genes like me logo Genes that share phenotypes with MTMR3: view

Animal Model Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MTMR3 Gene

Localization for MTMR3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MTMR3 Gene

Cytoplasm. Membrane; Peripheral membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MTMR3 Gene COMPARTMENTS Subcellular localization image for MTMR3 gene
Compartment Confidence
cytosol 5
nucleus 5
cytoskeleton 2
endosome 1

Gene Ontology (GO) - Cellular Components for MTMR3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 10733931
GO:0016020 membrane IDA 10733931
genes like me logo Genes that share ontologies with MTMR3: view

Pathways & Interactions for MTMR3 Gene

genes like me logo Genes that share pathways with MTMR3: view

Gene Ontology (GO) - Biological Process for MTMR3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006470 protein dephosphorylation IDA 10733931
GO:0006644 phospholipid metabolic process TAS --
GO:0035335 peptidyl-tyrosine dephosphorylation IEA --
GO:0044281 small molecule metabolic process TAS --
GO:1904562 phosphatidylinositol 5-phosphate metabolic process IC 25578879
genes like me logo Genes that share ontologies with MTMR3: view

No data available for SIGNOR curated interactions for MTMR3 Gene

Drugs & Compounds for MTMR3 Gene

(1) Drugs for MTMR3 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(4) Additional Compounds for MTMR3 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Phosphate
  • NFB Orthophosphate
  • O-Phosphoric acid
  • Ortho-phosphate
  • Orthophosphate (PO43-)
  • Orthophosphate(3-)
14265-44-2
phosphoric acid
  • Acide phosphorique (FRENCH)
  • Acido fosforico [Italian]
  • Acidum phosphoricum
  • Diphosphate tetrasodium
  • Fosforzuuroplossingen [Dutch]
7664-38-2
Water
  • Dihydrogen oxide
  • Steam
7732-18-5
genes like me logo Genes that share compounds with MTMR3: view

Transcripts for MTMR3 Gene

Unigene Clusters for MTMR3 Gene

Myotubularin related protein 3:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for MTMR3 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b · 7c ^ 8a · 8b ^ 9a · 9b ^ 10a · 10b ^ 11a · 11b ^ 12 ^ 13 ^ 14a · 14b ^ 15 ^ 16a · 16b ^
SP1: -
SP2: -
SP3:
SP4:
SP5:
SP6:
SP7: -
SP8: - -
SP9:

ExUns: 17a · 17b · 17c
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:

Relevant External Links for MTMR3 Gene

GeneLoc Exon Structure for
MTMR3
ECgene alternative splicing isoforms for
MTMR3

Expression for MTMR3 Gene

mRNA expression in normal human tissues for MTMR3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MTMR3 Gene

This gene is overexpressed in Whole Blood (x7.2).

Protein differential expression in normal tissues from HIPED for MTMR3 Gene

This gene is overexpressed in Blymphocyte (18.8), Heart (12.4), and Testis (9.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for MTMR3 Gene



SOURCE GeneReport for Unigene cluster for MTMR3 Gene Hs.474536

genes like me logo Genes that share expression patterns with MTMR3: view

Protein tissue co-expression partners for MTMR3 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for MTMR3 Gene

Orthologs for MTMR3 Gene

This gene was present in the common ancestor of animals.

Orthologs for MTMR3 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia MTMR3 35
  • 88.06 (n)
  • 88.87 (a)
MTMR3 36
  • 87 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MTMR3 35
  • 91.23 (n)
  • 92.46 (a)
MTMR3 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mtmr3 35
  • 86.86 (n)
  • 87.69 (a)
Mtmr3 16
Mtmr3 36
  • 87 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia MTMR3 35
  • 99.81 (n)
  • 99.75 (a)
MTMR3 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mtmr3 35
  • 86.68 (n)
  • 87.35 (a)
oppossum
(Monodelphis domestica)
Mammalia MTMR3 36
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MTMR3 36
  • 83 (a)
OneToOne
chicken
(Gallus gallus)
Aves MTMR3 35
  • 76.01 (n)
  • 79.09 (a)
MTMR3 36
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mtmr3 35
  • 65.42 (n)
  • 67.22 (a)
African clawed frog
(Xenopus laevis)
Amphibia Mtmr3 35
zebrafish
(Danio rerio)
Actinopterygii -- 35
mtmr3 35
  • 70.11 (n)
  • 75.03 (a)
mtmr3 36
  • 63 (a)
OneToMany
MTMR3 (2 of 3) 36
  • 57 (a)
OneToMany
MTMR3 (3 of 3) 36
  • 82 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG3632 37
  • 48 (a)
CG3632 36
  • 32 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea T24A11.1a 37
  • 31 (a)
T24A11.1b 37
  • 31 (a)
Species with no ortholog for MTMR3:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • lizard (Anolis carolinensis)
  • 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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 MTMR3 Gene

ENSEMBL:
Gene Tree for MTMR3 (if available)
TreeFam:
Gene Tree for MTMR3 (if available)

Paralogs for MTMR3 Gene

Paralogs for MTMR3 Gene

(10) SIMAP similar genes for MTMR3 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with MTMR3: view

Variants for MTMR3 Gene

Sequence variations from dbSNP and Humsavar for MTMR3 Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type
VAR_035656 A breast cancer sample
rs36579 -- 29,922,447(+) tccta(C/T)gaatg intron-variant
rs36580 -- 29,923,405(+) ttgcc(A/G)tgttt intron-variant
rs36581 -- 29,928,190(+) ttttt(A/T)agaca intron-variant
rs36582 -- 29,928,674(+) AAAAA(A/T)ttttt intron-variant

Structural Variations from Database of Genomic Variants (DGV) for MTMR3 Gene

Variant ID Type Subtype PubMed ID
dgv760n67 CNV Gain 20364138
esv27258 CNV Gain 19812545
nsv523696 CNV Gain 19592680
nsv829163 CNV Loss 20364138
esv2724133 CNV Deletion 23290073
esv2667111 CNV Deletion 23128226
esv26961 CNV Loss 19812545
nsv3591 CNV Loss 18451855
esv271834 CNV Insertion 20981092

Variation tolerance for MTMR3 Gene

Residual Variation Intolerance Score: 4.14% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.84; 58.72% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MTMR3 Gene

HapMap Linkage Disequilibrium report
MTMR3
Human Gene Mutation Database (HGMD)
MTMR3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MTMR3 Gene

Disorders for MTMR3 Gene

MalaCards: The human disease database

(2) MalaCards diseases for MTMR3 Gene - From: DISEASES

Disorder Aliases PubMed IDs
adult syndrome
  • acro-dermato-ungual-lacrimal-tooth syndrome
myopathy, centronuclear
  • centronuclear myopathy, autosomal, modifier of
- elite association - COSMIC cancer census association via MalaCards
Search MTMR3 in MalaCards View complete list of genes associated with diseases

Relevant External Links for MTMR3

Genetic Association Database (GAD)
MTMR3
Human Genome Epidemiology (HuGE) Navigator
MTMR3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MTMR3
genes like me logo Genes that share disorders with MTMR3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MTMR3 Gene

Publications for MTMR3 Gene

  1. Characterization of the myotubularin dual specificity phosphatase gene family from yeast to human. (PMID: 9736772) Laporte J. … Mandel J.-L. (Hum. Mol. Genet. 1998) 2 3 4 67
  2. Modulation of local PtdIns3P levels by the PI phosphatase MTMR3 regulates constitutive autophagy. (PMID: 20059746) Taguchi-Atarashi N. … Noda T. (Traffic 2010) 3 23
  3. FYVE-DSP2, a FYVE domain-containing dual specificity protein phosphatase that dephosphorylates phosphatidylinositol 3-phosphate. (PMID: 11302699) Zhao R. … Zhao Z.J. (Exp. Cell Res. 2001) 3 23
  4. FYVE-DSP1, a dual-specificity protein phosphatase containing an FYVE domain. (PMID: 10733931) Zhao R. … Zhao Z.J. (Biochem. Biophys. Res. Commun. 2000) 3 23
  5. Myotubularin, a protein tyrosine phosphatase mutated in myotubular myopathy, dephosphorylates the lipid second messenger, phosphatidylinositol 3-phosphate. (PMID: 10900271) Taylor G.S. … Dixon J.E. (Proc. Natl. Acad. Sci. U.S.A. 2000) 3 23

Products for MTMR3 Gene

Sources for MTMR3 Gene

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