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

Institute of Cardiovascular Regeneration, Goethe-University Frankfurt am Main

Transcript Info
Description: X-linked myotubular myopathy gene 1
Transcript Accession Transcript Name Contained in Gene Tax ID Strand Position Biotype
ENSMUST00000114617 Mtm1-002 ENSMUSG00000031337 10090 + X:71215082-71315265 protein_coding

Expression Patterns

Heat Map
Numeric Values
Transcript'; ColonHeartLiverLungOvaryENSMUST00000114617
Transcript ID Colon Heart Liver Lung Ovary
ENSMUST00000114617 3.196±1.25 0.740±0.00 0.676±0.00 1.145±0.00 0.457±0.19

Conserved Regions

Region IDSub-RegionRegion TypePosition
CIL_0001AS CIL_0001AS_0002 CGP X:71050256-71315691
CIL_0000PJ CIL_0000PJ_0003 CGP X:71210767-71419196

Gene Ontology

GO IDEvidence TypeGO Description
GO:0001726 ISS ruffle
GO:0004438 ISS phosphatidylinositol-3-phosphatase activity
GO:0004721 ISS phosphoprotein phosphatase activity
GO:0004725 IEA protein tyrosine phosphatase activity
GO:0005515 IPI protein binding
GO:0005737 IDA cytoplasm
GO:0005770 ISS late endosome
GO:0005886 ISS plasma membrane
GO:0006470 ISS protein dephosphorylation
GO:0008333 ISS endosome to lysosome transport
GO:0015031 IEA protein transport
GO:0019215 ISS intermediate filament binding
GO:0030175 ISS filopodium
GO:0031674 IDA I band
GO:0035091 ISS phosphatidylinositol binding
GO:0035335 IEA peptidyl-tyrosine dephosphorylation
GO:0044088 ISS regulation of vacuole organization
GO:0045109 ISS intermediate filament organization
GO:0046716 IMP muscle cell cellular homeostasis
GO:0046856 ISS phosphatidylinositol dephosphorylation
GO:0048311 IMP mitochondrion distribution
GO:0052629 ISS phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity
GO:0070584 IMP mitochondrion morphogenesis

Homologs

ENSEMBL Accession Gene Name Biotype Species E-Value Bit Score
ENST00000306167 MTM1-003 processed_transcript Homo_sapiens 0 1988
ENST00000370396 MTM1-002 protein_coding Homo_sapiens 0 2547
ENST00000424519 MTM1-005 protein_coding Homo_sapiens 0 296
ENST00000490530 MTM1-004 processed_transcript Homo_sapiens 0 784

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