C-It-Loci: A knowledge database for tissue-enriched loci.

Institute of Cardiovascular Regeneration, Goethe-University Frankfurt am Main

Gene Info

Description: myotubularin 1
Gene AccessionGene NameTax IDStrandPositionGene Biotype
ENSG00000171100 MTM1 9606 + X:150568619-150673322 protein_coding
  Transcript Accession Transcript Name Position Transcript Biotype
  ENST00000306167 MTM1-003 150568634-150672874 processed_transcript
  ENST00000370393 MTM1-001 150568625-150596993 processed_transcript
  ENST00000370396 MTM1-002 150568619-150673322 protein_coding
  ENST00000424519 MTM1-005 150568622-150639021 protein_coding
  ENST00000490530 MTM1-004 150568639-150645871 processed_transcript

Expression Patterns

Heat Map
Numeric Values
Transcript'; AdiposeAdrenalBladderBrainBreastColonHeartKidneyLiverLungMuscleOvaryPlacentaTestisENST00000306167ENST00000370396ENST00000490530
Transcript ID Adipose Adrenal Bladder Brain Breast Colon Heart Kidney Liver Lung Muscle Ovary Placenta Testis
ENST00000306167 1.207±0.00 1.156±0.00 N/A 1.527±0.00 0.901±0.00 0.602±0.00 1.777±0.00 0.727±0.00 0.919±0.00 0.893±0.00 1.728±0.00 1.546±0.24 0.480±0.01 1.050±0.00
ENST00000370396 1.916±0.00 0.458±0.00 0.272±0.00 1.193±0.03 N/A N/A 0.167±0.00 0.535±0.00 N/A 0.867±0.00 0.490±0.07 1.808±0.62 1.077±0.32 2.613±1.11
ENST00000490530 N/A N/A 1.759±0.00 2.514±0.00 N/A N/A 1.350±0.00 N/A N/A 1.716±0.00 1.705±0.00 1.071±0.00 N/A 3.097±0.00

Conserved Regions

Region IDSub-RegionRegion TypePosition
CIL_0001AS CIL_0001AS_0001 CGP X:150361422-150673322
CIL_0000PJ CIL_0000PJ_0002 CGP X:150568619-150765103

Gene Ontology
GO IDEvidence TypeGO Description
GO:0001726 IDA ruffle
GO:0004438 IDA phosphatidylinositol-3-phosphatase activity
GO:0004721 IDA phosphoprotein phosphatase activity
GO:0004725 IEA protein tyrosine phosphatase activity
GO:0005515 IPI protein binding
GO:0005737 IDA cytoplasm
GO:0005770 IDA late endosome
GO:0005829 TAS cytosol
GO:0005886 IDA plasma membrane
GO:0006470 IDA protein dephosphorylation
GO:0006644 TAS phospholipid metabolic process
GO:0006661 TAS phosphatidylinositol biosynthetic process
GO:0008333 IDA endosome to lysosome transport
GO:0015031 IEA protein transport
GO:0016311 IEA dephosphorylation
GO:0016791 IEA phosphatase activity
GO:0019215 IDA intermediate filament binding
GO:0030175 IDA filopodium
GO:0031674 IEA I band
GO:0035091 IDA phosphatidylinositol binding
GO:0035335 IEA peptidyl-tyrosine dephosphorylation
GO:0044088 IDA regulation of vacuole organization
GO:0044281 TAS small molecule metabolic process
GO:0045109 IMP intermediate filament organization
GO:0046716 IEA muscle cell cellular homeostasis
GO:0046856 IDA phosphatidylinositol dephosphorylation
GO:0048311 IMP mitochondrion distribution
GO:0052629 IDA phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity
GO:0070062 IDA extracellular vesicular exosome
GO:0070584 IDA mitochondrion morphogenesis

Homologs

ENSEMBL Accession Gene Name Description Biotype Species
ENSDARG00000037560 mtm1 myotubularin 1 protein_coding Danio_rerio
ENSMUSG00000031337 Mtm1 X-linked myotubular myopathy gene 1 protein_coding Mus_musculus

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