MTMR3 - myotubularin related protein 3 Gene

Homo sapiens

Also known as ZFYVE10; FYVE-DSP1

Gene ID: 8897 | Gene type: protein coding

About MTMR3

Cytogenetic location: 22q12.2 Genomic coordinates (GRCh38): 22:29,883,174-30,030,868 (from NCBI)

This gene has 12 transcripts (splice variants), 245 orthologues and 13 paralogues. Ubiquitous expression in bone marrow (RPKM 20.3), testis (RPKM 13.1) and 25 other tissues.

Summary

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]

MTMR3 Products(3)

mRNA	Protein	Name
NM_021090.4	NP_066576.1	myotubularin-related protein 3 isoform c
NM_153050.3	NP_694690.1	myotubularin-related protein 3 isoform a
NM_153051.3	NP_694691.1	myotubularin-related protein 3 isoform b

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables molecular adaptor activity	IDA IDA: Inferred from direct assay	25659891	GOA
enables phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity	IDA IDA: Inferred from direct assay	11676921	GOA
enables phosphatidylinositol-3-phosphate phosphatase activity	IDA IDA: Inferred from direct assay	10900271	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	26787466	GOA
enables protein phosphatase binding	IPI IPI: Inferred from physical interaction	16787938	GOA
enables protein serine/threonine phosphatase activity	IDA IDA: Inferred from direct assay	10733931	GOA
enables protein tyrosine phosphatase activity	IDA IDA: Inferred from direct assay	10733931	GOA
enables protein tyrosine/serine/threonine phosphatase activity	IDA IDA: Inferred from direct assay	10733931	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in cellular response to glucose starvation	IMP IMP: Inferred from mutant phenotype	25578879	GOA
involved in midbody abscission	IMP IMP: Inferred from mutant phenotype	25659891	GOA
involved in phosphatidylinositol 5-phosphate metabolic process	IDA IDA: Inferred from direct assay	11676921	GOA
involved in phosphatidylinositol dephosphorylation	IDA IDA: Inferred from direct assay	10900271	GOA
involved in protein dephosphorylation	IDA IDA: Inferred from direct assay	10733931	GOA
involved in regulation of autophagosome assembly	IMP IMP: Inferred from mutant phenotype	25578879	GOA
involved in regulation of phosphatidylinositol dephosphorylation	IDA IDA: Inferred from direct assay	16787938	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	10733931	GOA
located in membrane	IDA IDA: Inferred from direct assay	10733931	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

MTMR3 Protein Structure

Myotub-related

FYVE

0
200
400
600
800
1000
1198 a.a.

Protein Preferred Names

Protein Names

myotubularin-related protein 3

FYVE (Fab1 YGLO23 Vsp27 EEA1 domain) dual-specificity protein phosphatase

MTMR3 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	MTMR3	Q13615	RPTOR	Homo sapiens	Q8N122	Anti Tag CoIP	26787466
Intra	MTMR3	Q13615	LONRF1	Homo sapiens	Q17RB8	Validated Y2H	32296183
Intra	MTMR3	Q13615	MTOR	Homo sapiens	P42345	Anti Tag CoIP	26787466
Intra	MTMR3	Q13615	EXOSC5	Homo sapiens	Q9NQT4	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Myopathy, Centronuclear, X-Linked

X-Linked Myotubular Myopathy	Xlmtm
X-Linked Centronuclear Myopathy	Xlcnm
CNMX	Mtm1
Myotubular Myopathy, X-Linked	Mtmx
Myotubular Myopathy 1	Centronuclear Myopathy X-Linked
Myotubular Myopathy	Mtm
Cnm	Xmtm
Myotubular Myopathy Type 1

Nephrotic Syndrome, Type 7

Immunoglobulin-Mediated Membranoproliferative Glomerulonephritis	Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 7
NPHS7	Nephrotic Syndrome Type 7
Ig-Mediated Membranoproliferative Glomerulonephritis	Ig-Mediated Mpgn
Immunoglobulin-Mediated Mpgn	Nephrotic Syndrome, Type 7, With Membranoproliferative Glomerulonephritis
Hemolytic Uremic Syndrome, Atypical 7	Nephrotic Syndrome Type 7 With Membranoptoliferative Glomerulonephritis
Hemolytic Uremic Syndrome With Dgke Deficiency	Hus With Dgke Deficiency
Hemolytic Uremic Syndrome Atypical 7	AHUS7
Nephrotic Syndrome 7	Nephrotic Syndrome Type 7 With Membranoproliferative Glomerulonephritis

Centronuclear Myopathy

Myopathy, Centronuclear	Myotubular Myopathy
Cnm	Myopathy, Myotubular
Congenital Structural Myopathy

Myopathy

Muscular Diseases

Myopathies

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS08790	MTMR3 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	MTMR3	MGD	MGI:1921552
Canis familiaris	MTMR3	VGNC	VGNC:43484
Felis catus	MTMR3	VGNC	VGNC:68347
Rattus norvegicus	MTMR3	RGD	RGD:1310972
Bos taurus	MTMR3	VGNC	VGNC:31742
Macaca mulatta	MTMR3	VGNC	VGNC:75074

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