MTMR3

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MTMR3
Identifiers
Aliases MTMR3, FYVE-DSP1, ZFYVE10, myotubularin related protein 3
External IDs MGI: 1921552 HomoloGene: 23662 GeneCards: MTMR3
EC number 3.1.3.95
Gene location (Human)
Chromosome 22 (human)
Chr. Chromosome 22 (human)[1]
Chromosome 22 (human)
Genomic location for MTMR3
Genomic location for MTMR3
Band 22q12.2 Start 29,883,155 bp[1]
End 30,030,866 bp[1]
RNA expression pattern
PBB GE MTMR3 211507 s at fs.png

PBB GE MTMR3 202197 at fs.png

PBB GE MTMR3 202198 s at fs.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001013676
NM_021090
NM_153050
NM_153051

NM_028860

RefSeq (protein)

NP_066576
NP_694690
NP_694691
NP_694691.1

NP_083136

Location (UCSC) Chr 22: 29.88 – 30.03 Mb Chr 22: 4.48 – 4.59 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Myotubularin-related protein 3 is a protein that in humans is encoded by the MTMR3 gene.[5][6][7]

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.[7]

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000100330 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000034354 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". 
  4. ^ "Mouse PubMed Reference:". 
  5. ^ Laporte J, Hu LJ, Kretz C, Mandel JL, Kioschis P, Coy JF, Klauck SM, Poustka A, Dahl N (Jul 1996). "A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast". Nat Genet. 13 (2): 175–82. doi:10.1038/ng0696-175. PMID 8640223. 
  6. ^ Laporte J, Blondeau F, Buj-Bello A, Tentler D, Kretz C, Dahl N, Mandel JL (Dec 1998). "Characterization of the myotubularin dual specificity phosphatase gene family from yeast to human". Hum Mol Genet. 7 (11): 1703–12. doi:10.1093/hmg/7.11.1703. PMID 9736772. 
  7. ^ a b "Entrez Gene: MTMR3 myotubularin related protein 3".