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

Institute of Cardiovascular Regeneration, Goethe-University Frankfurt am Main

Gene Info

Description: X-linked myotubular myopathy gene 1
Gene AccessionGene NameTax IDStrandPositionGene Biotype
ENSMUSG00000031337 Mtm1 10090 + X:71210767-71315691 protein_coding
  Transcript Accession Transcript Name Position Transcript Biotype
  ENSMUST00000025391 Mtm1-201 71215006-71315295 protein_coding
  ENSMUST00000033700 Mtm1-001 71215039-71315265 protein_coding
  ENSMUST00000061970 Mtm1-202 71215006-71315295 protein_coding
  ENSMUST00000101501 Mtm1-004 71215006-71260810 protein_coding
  ENSMUST00000114617 Mtm1-002 71215082-71315265 protein_coding
  ENSMUST00000114621 Mtm1-003 71215028-71315288 protein_coding
  ENSMUST00000126208 Mtm1-010 71215036-71297580 retained_intron
  ENSMUST00000129722 Mtm1-009 71301369-71315691 retained_intron
  ENSMUST00000134859 Mtm1-007 71215031-71298861 retained_intron
  ENSMUST00000151415 Mtm1-005 71215085-71236686 retained_intron
  ENSMUST00000152810 Mtm1-006 71215085-71256301 retained_intron
  ENSMUST00000156452 Mtm1-008 71215059-71310311 retained_intron
  ENSMUST00000171933 Mtm1-203 71210767-71315295 protein_coding

Expression Patterns

Heat Map
Numeric Values
Transcript'; AdiposeAdrenalBladderBrainBreastColonHeartKidneyLiverLungMuscleOvaryPlacentaTestisENSMUST00000025391ENSMUST00000033700ENSMUST00000061970ENSMUST00000114617ENSMUST00000114621ENSMUST00000129722ENSMUST00000134859ENSMUST00000156452ENSMUST00000171933
Transcript ID Adipose Adrenal Bladder Brain Breast Colon Heart Kidney Liver Lung Muscle Ovary Placenta Testis
ENSMUST00000025391 N/A 0.748±0.00 N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A
ENSMUST00000033700 2.078±0.52 3.159±1.18 3.971±0.51 0.816±0.37 2.521±0.47 6.849±2.27 3.758±0.31 1.941±0.57 2.345±0.64 3.778±0.84 3.251±0.28 1.362±0.64 2.178±1.60 1.224±0.39
ENSMUST00000061970 0.551±0.00 0.735±0.00 N/A 0.277±0.00 1.766±0.00 N/A N/A 0.488±0.05 N/A N/A 0.916±0.00 N/A 1.025±0.00 0.672±0.00
ENSMUST00000114617 N/A N/A N/A N/A N/A 3.196±1.25 0.740±0.00 N/A 0.676±0.00 1.145±0.00 N/A 0.457±0.19 N/A N/A
ENSMUST00000114621 N/A 1.107±0.00 N/A N/A 1.080±0.00 4.845±1.99 N/A 1.143±0.44 1.270±0.00 N/A N/A 0.837±0.44 N/A N/A
ENSMUST00000129722 0.410±0.08 0.573±0.15 N/A N/A 0.648±0.05 N/A N/A N/A 0.190±0.00 0.779±0.13 N/A 0.670±0.38 N/A 0.418±0.00
ENSMUST00000134859 N/A N/A N/A 0.205±0.07 N/A N/A N/A N/A N/A N/A N/A 0.324±0.11 N/A N/A
ENSMUST00000156452 N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A 0.204±0.00 N/A N/A
ENSMUST00000171933 N/A 0.909±0.00 N/A N/A N/A N/A N/A N/A N/A N/A N/A 0.697±0.00 N/A 1.007±0.00

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:0070062 IEA extracellular vesicular exosome
GO:0070584 IMP mitochondrion morphogenesis

Homologs

ENSEMBL Accession Gene Name Description Biotype Species
ENSDARG00000037560 mtm1 myotubularin 1 protein_coding Danio_rerio
ENSG00000171100 MTM1 myotubularin 1 protein_coding Homo_sapiens

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