MTMR3

Protein-coding gene in the species Homo sapiens
MTMR3
Identifiers
AliasesMTMR3, FYVE-DSP1, ZFYVE10, myotubularin related protein 3
External IDsOMIM: 603558; MGI: 1921552; HomoloGene: 23662; GeneCards: MTMR3; OMA:MTMR3 - orthologs
EC number3.1.3.95
Gene location (Human)
Chromosome 22 (human)
Chr.Chromosome 22 (human)[1]
Chromosome 22 (human)
Genomic location for MTMR3
Genomic location for MTMR3
Band22q12.2Start29,883,169 bp[1]
End30,030,868 bp[1]
Gene location (Mouse)
Chromosome 11 (mouse)
Chr.Chromosome 11 (mouse)[2]
Chromosome 11 (mouse)
Genomic location for MTMR3
Genomic location for MTMR3
Band11|11 A1Start4,430,868 bp[2]
End4,544,863 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • oocyte

  • secondary oocyte

  • blood

  • bone marrow cells

  • right uterine tube

  • skin of leg

  • monocyte

  • sural nerve

  • Achilles tendon

  • amniotic fluid
Top expressed in
  • blood

  • vestibular membrane of cochlear duct

  • granulocyte

  • transitional epithelium of urinary bladder

  • ciliary body

  • facial motor nucleus

  • ankle

  • iris

  • substantia nigra

  • epithelium of lens
More reference expression data
BioGPS




More reference expression data
Gene ontology
Molecular function
  • phosphoprotein phosphatase activity
  • metal ion binding
  • protein tyrosine phosphatase activity
  • hydrolase activity
  • protein binding
  • protein serine/threonine phosphatase activity
  • phosphatidylinositol-3-phosphatase activity
  • phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity
  • protein phosphatase binding
Cellular component
  • cytoplasm
  • cytosol
  • membrane
  • extrinsic component of membrane
  • nucleoplasm
Biological process
  • cellular response to glucose starvation
  • lipid metabolism
  • protein dephosphorylation
  • regulation of autophagosome assembly
  • phosphatidylinositol dephosphorylation
  • phosphatidylinositol biosynthetic process
  • macroautophagy
  • dephosphorylation
  • peptidyl-tyrosine dephosphorylation
  • phosphatidylinositol 5-phosphate metabolic process
  • regulation of phosphatidylinositol dephosphorylation
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

8897

74302

Ensembl

ENSG00000100330

ENSMUSG00000034354

UniProt

Q13615

Q8K296

RefSeq (mRNA)

NM_001013676
NM_021090
NM_153050
NM_153051

NM_028860
NM_001373897

RefSeq (protein)

NP_066576
NP_694690
NP_694691
NP_694691.1

NP_083136
NP_001360826

Location (UCSC)Chr 22: 29.88 – 30.03 MbChr 11: 4.43 – 4.54 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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

  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:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  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. S2CID 30028223.
  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".
  • v
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Class I
Classical PTPs
Receptor type PTPs
Non receptor type PTPs
VH1-like or
dual specific
phosphatases
(DSPs)
MAPK phosphatases (MKPs)
Slingshots
PRLs
CDC14s
Atypical DSPs
Phosphatase and tensin
homologs (PTENs)
Myotubularins
Class IIClass IIIClass IV


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