Human Gene MTMR3 (ENST00000351488.7) from GENCODE V44
  Description: Homo sapiens myotubularin related protein 3 (MTMR3), transcript variant 2, mRNA. (from RefSeq NM_153051)
RefSeq Summary (NM_153051): 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].
Gencode Transcript: ENST00000351488.7
Gencode Gene: ENSG00000100330.16
Transcript (Including UTRs)
   Position: hg38 chr22:29,883,213-30,026,495 Size: 143,283 Total Exon Count: 19 Strand: +
Coding Region
   Position: hg38 chr22:29,971,060-30,025,801 Size: 54,742 Coding Exon Count: 17 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr22:29,883,213-30,026,495)mRNA (may differ from genome)Protein (1161 aa)
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HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: MTMR3_HUMAN
DESCRIPTION: RecName: Full=Myotubularin-related protein 3; EC=3.1.3.48; AltName: Full=FYVE domain-containing dual specificity protein phosphatase 1; Short=FYVE-DSP1; AltName: Full=Zinc finger FYVE domain-containing protein 10;
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.
CATALYTIC ACTIVITY: Protein tyrosine phosphate + H(2)O = protein tyrosine + phosphate.
SUBCELLULAR LOCATION: Cytoplasm. Membrane; Peripheral membrane protein.
SIMILARITY: Belongs to the protein-tyrosine phosphatase family. Non-receptor class myotubularin subfamily.
SIMILARITY: Contains 1 FYVE-type zinc finger.
SIMILARITY: Contains 1 myotubularin phosphatase domain.
SEQUENCE CAUTION: Sequence=BAA20826.2; Type=Erroneous initiation;

-  Primer design for this transcript
 

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-  MalaCards Disease Associations
  MalaCards Gene Search: MTMR3
Diseases sorted by gene-association score: adult syndrome (6)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 30.62 RPKM in Whole Blood
Total median expression: 553.30 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -114.30284-0.402 Picture PostScript Text
3' UTR -247.80694-0.357 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR010569 - Myotub-related
IPR017906 - Myotubularin_phosphatase_dom
IPR016130 - Tyr_Pase_AS
IPR000306 - Znf_FYVE
IPR017455 - Znf_FYVE-rel
IPR011011 - Znf_FYVE_PHD
IPR013083 - Znf_RING/FYVE/PHD

Pfam Domains:
PF01363 - FYVE zinc finger
PF06602 - Myotubularin-like phosphatase domain

ModBase Predicted Comparative 3D Structure on Q13615
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologGenome BrowserNo ortholog
Gene Details     
Gene Sorter     
MGIRGD  WormBase 
Protein SequenceProtein Sequence  Protein Sequence 
AlignmentAlignment  Alignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004438 phosphatidylinositol-3-phosphatase activity
GO:0004721 phosphoprotein phosphatase activity
GO:0004722 protein serine/threonine phosphatase activity
GO:0004725 protein tyrosine phosphatase activity
GO:0005515 protein binding
GO:0016787 hydrolase activity
GO:0019903 protein phosphatase binding
GO:0046872 metal ion binding
GO:0052629 phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity

Biological Process:
GO:0006470 protein dephosphorylation
GO:0006629 lipid metabolic process
GO:0006661 phosphatidylinositol biosynthetic process
GO:0016236 macroautophagy
GO:0016311 dephosphorylation
GO:0035335 peptidyl-tyrosine dephosphorylation
GO:0042149 cellular response to glucose starvation
GO:0046856 phosphatidylinositol dephosphorylation
GO:0060304 regulation of phosphatidylinositol dephosphorylation
GO:1904562 phosphatidylinositol 5-phosphate metabolic process
GO:2000785 regulation of autophagosome assembly

Cellular Component:
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0016020 membrane
GO:0019898 extrinsic component of membrane


-  Descriptions from all associated GenBank mRNAs
  BC151217 - Homo sapiens myotubularin related protein 3, mRNA (cDNA clone MGC:164906 IMAGE:40148098), complete cds.
AK289581 - Homo sapiens cDNA FLJ76734 complete cds, highly similar to Homo sapiens myotubularin related protein 3 (MTMR3), transcript variant 3, mRNA.
BC142713 - Homo sapiens myotubularin related protein 3, mRNA (cDNA clone MGC:165059 IMAGE:40148839), complete cds.
AB002369 - Homo sapiens mRNA for KIAA0371 gene.
BC152455 - Homo sapiens myotubularin related protein 3, mRNA (cDNA clone MGC:176709 IMAGE:8862588), complete cds.
BC148216 - Homo sapiens myotubularin related protein 3, mRNA (cDNA clone MGC:156938 IMAGE:40082266), complete cds.
CR456525 - Homo sapiens MTMR3 full length open reading frame (ORF) cDNA clone (cDNA clone C22ORF:pGEM.MTMR3.V2).
AB385318 - Synthetic construct DNA, clone: pF1KA0371, Homo sapiens MTMR3 gene for myotubularin-related protein 3, complete cds, without stop codon, in Flexi system.
BC141656 - Synthetic construct Homo sapiens clone IMAGE:100000286, MGC:164698 myotubularin related protein 3 (MTMR3) mRNA, encodes complete protein.
CU013413 - Homo sapiens MTMR3, mRNA (cDNA clone IMAGE:100000286), complete cds, without stop codon, in Gateway system.
BC141654 - Synthetic construct Homo sapiens clone IMAGE:100000382, MGC:164691 myotubularin related protein 3 (MTMR3) mRNA, encodes complete protein.
CU013125 - Homo sapiens MTMR3, mRNA (cDNA clone IMAGE:100000382), complete cds, with stop codon, in Gateway system.
AF233436 - Homo sapiens FYVE domain-containing dual specificity protein phosphatase FYVE-DSP1a mRNA, complete cds.
AF233437 - Homo sapiens FYVE domain-containing dual specificity protein phosphatase FYVE-DSP1b mRNA, complete cds.
AF233438 - Homo sapiens FYVE domain-containing dual specificity protein phosphatase FYVE-DSP1c mRNA, complete cds.
JD400883 - Sequence 381907 from Patent EP1572962.
JD496717 - Sequence 477741 from Patent EP1572962.
JD391609 - Sequence 372633 from Patent EP1572962.
JD482513 - Sequence 463537 from Patent EP1572962.
JD094001 - Sequence 75025 from Patent EP1572962.
JD290145 - Sequence 271169 from Patent EP1572962.
JD290146 - Sequence 271170 from Patent EP1572962.
JD163249 - Sequence 144273 from Patent EP1572962.
JD250985 - Sequence 232009 from Patent EP1572962.
JD337850 - Sequence 318874 from Patent EP1572962.
JD456714 - Sequence 437738 from Patent EP1572962.
DQ582104 - Homo sapiens piRNA piR-32216, complete sequence.
JD277459 - Sequence 258483 from Patent EP1572962.
JD240276 - Sequence 221300 from Patent EP1572962.
JD368125 - Sequence 349149 from Patent EP1572962.
JD247208 - Sequence 228232 from Patent EP1572962.
JD377811 - Sequence 358835 from Patent EP1572962.
JD095074 - Sequence 76098 from Patent EP1572962.
JD189223 - Sequence 170247 from Patent EP1572962.
JD565266 - Sequence 546290 from Patent EP1572962.
JD480015 - Sequence 461039 from Patent EP1572962.
JD249264 - Sequence 230288 from Patent EP1572962.
JD512970 - Sequence 493994 from Patent EP1572962.
JD273950 - Sequence 254974 from Patent EP1572962.
JD429524 - Sequence 410548 from Patent EP1572962.
JD521929 - Sequence 502953 from Patent EP1572962.
JD564676 - Sequence 545700 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q13615 (Reactome details) participates in the following event(s):

R-HSA-1676203 PI(3,5)P2 is dephosphorylated to PI5P by SYNJ/MTMs at the plasma membrane
R-HSA-1675994 PI3P is dephosphorylated to PI by SYNJ/MTMs at the plasma membrane
R-HSA-5679206 MTMR14, MTMR3 dephosphorylate PI3P
R-HSA-1660499 Synthesis of PIPs at the plasma membrane
R-HSA-1632852 Macroautophagy
R-HSA-1483255 PI Metabolism
R-HSA-8953897 Cellular responses to external stimuli
R-HSA-1483257 Phospholipid metabolism
R-HSA-556833 Metabolism of lipids
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: A5PL26, A7MD32, ENST00000351488.1, ENST00000351488.2, ENST00000351488.3, ENST00000351488.4, ENST00000351488.5, ENST00000351488.6, KIAA0371, MTMR3_HUMAN, NM_153051, Q13615, Q9NYN5, Q9NYN6, Q9UDX6, Q9UEG3, uc003agw.1, uc003agw.2, uc003agw.3, uc003agw.4, uc003agw.5, ZFYVE10
UCSC ID: ENST00000351488.7
RefSeq Accession: NM_153051
Protein: Q13615 (aka MTMR3_HUMAN or MTR3_HUMAN)
CCDS: CCDS13870.1, CCDS13871.1, CCDS46682.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.