InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: MTM1

Summary

InnateDB Gene

IDBG-88743.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

MTM1

Gene Name

myotubularin 1

Synonyms

CNM; MTMX; XLMTM

Species

Homo sapiens

Ensembl Gene

ENSG00000171100

Encoded Proteins

IDBP-88745

myotubularin 1

IDBP-382294

myotubularin 1

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

This gene encodes a dual-specificity phosphatase that acts on both phosphotyrosine and phosphoserine. It is required for muscle cell differentiation and mutations in this gene have been identified as being responsible for X-linked myotubular myopathy. [provided by RefSeq, Jul 2008]

Gene Information

Type

Protein coding

Genomic Location

Chromosome X:150568619-150673322

Strand

Forward strand

Band

q28

Transcripts

ENST00000370396	ENSP00000359423
ENST00000306167
ENST00000370393
ENST00000424519	ENSP00000400699
ENST00000490530

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 13 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Experimentally validated
Total	13 [view]
Protein-Protein	13 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004438	phosphatidylinositol-3-phosphatase activity
GO:0004721	phosphoprotein phosphatase activity
GO:0004725	protein tyrosine phosphatase activity
GO:0005515	protein binding
GO:0016791	phosphatase activity
GO:0019215	intermediate filament binding
GO:0035091	phosphatidylinositol binding
GO:0052629	phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity

Biological Process

GO:0006470	protein dephosphorylation
GO:0006644	phospholipid metabolic process
GO:0006661	phosphatidylinositol biosynthetic process
GO:0008333	endosome to lysosome transport
GO:0015031	protein transport
GO:0016311	dephosphorylation
GO:0035335	peptidyl-tyrosine dephosphorylation
GO:0044088	regulation of vacuole organization
GO:0044281	small molecule metabolic process
GO:0045109	intermediate filament organization
GO:0046856	phosphatidylinositol dephosphorylation
GO:0048311	mitochondrion distribution
GO:0070584	mitochondrion morphogenesis

Cellular Component

GO:0001726	ruffle
GO:0005737	cytoplasm
GO:0005770	late endosome
GO:0005829	cytosol
GO:0005886	plasma membrane
GO:0030175	filopodium
GO:0070062	extracellular vesicular exosome

Orthologs

Species

Mus musculus

Bos taurus

Gene ID

Gene Order

ENSMUSG00000031337

View Gene Order

ENSBTAG00000014138

Not yet available

Pathways

NETPATH

REACTOME

REACT_121025

Synthesis of PIPs at the plasma membrane pathway

REACT_120756

Synthesis of PIPs at the early endosome membrane pathway

REACT_120918

Synthesis of PIPs at the late endosome membrane pathway

REACT_22258

Metabolism of lipids and lipoproteins pathway

REACT_121175

PI Metabolism pathway

REACT_120870

Phospholipid metabolism pathway

REACT_111217

Metabolism pathway

KEGG

hsa00562

Inositol phosphate metabolism pathway

hsa04070

Phosphatidylinositol signaling system pathway

INOH

PID NCI

Cross-References

SwissProt

TrEMBL

UniProt Splice Variant

Entrez Gene

UniGene

Hs.594100 Hs.623446 Hs.655056

RefSeq

NM_000252 XM_005274687 XM_006724820 XM_006724821 XM_006724822

HUGO

OMIM

CCDS

CCDS14694

HPRD

02331

IMGT

EMBL

GenPept

RNA Seq Atlas