Mtm1 myotubularin 1 [Rattus norvegicus (Norway rat)] - Gene

Summary

Official Symbol: Mtm1provided by RGD
Official Full Name: myotubularin 1provided by RGD
Primary source: RGD:1304582
See related: Ensembl:ENSRNOG00000002516 AllianceGenome:RGD:1304582
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Rattus norvegicus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Summary: Predicted to enable intermediate filament binding activity; phosphatase activity; and phosphatidylinositol binding activity. Predicted to be involved in several processes, including dephosphorylation; mitochondrion organization; and muscle cell cellular homeostasis. Predicted to act upstream of or within negative regulation of intracellular signal transduction; negative regulation of proteasomal ubiquitin-dependent protein catabolic process; and positive regulation of skeletal muscle tissue growth. Predicted to be located in several cellular components, including I band; late endosome; and ruffle. Predicted to be active in cytoplasm and plasma membrane. Human ortholog(s) of this gene implicated in centronuclear myopathy X-linked and congenital structural myopathy. Orthologous to human MTM1 (myotubularin 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in Heart (RPKM 167.4), Muscle (RPKM 148.3) and 9 other tissues See more
Orthologs: human mouse all
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Genomic context

Location:: 6q11

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCr8 (GCF_036323735.1)	6	NC_086024.1 (6234917..6252874, complement)
RS_2023_06	previous assembly	mRatBN7.2 (GCF_015227675.2)	6	NC_051341.1 (488923..506882, complement)
106	previous assembly	Rnor_6.0 (GCF_000001895.5)	6	NC_005105.4 (18821821..18840449)

Chromosome 6 - NC_086024.1 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
BioProject: PRJNA238328
Publication: PMID 24510058
Analysis date: Mon Jun 6 17:44:12 2016

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Submit: New GeneRIF Correction

General gene information

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Gene Ontology Provided by RGD

Function	Evidence Code	Pubs
enables intermediate filament binding	ISO Inferred from Sequence Orthology more info
enables intermediate filament binding	ISS Inferred from Sequence or Structural Similarity more info
enables phosphatidylinositol binding	ISO Inferred from Sequence Orthology more info
enables phosphatidylinositol binding	ISS Inferred from Sequence or Structural Similarity more info
enables phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity	IBA Inferred from Biological aspect of Ancestor more info
enables phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity	IEA Inferred from Electronic Annotation more info
enables phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity	ISO Inferred from Sequence Orthology more info
enables phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity	ISS Inferred from Sequence or Structural Similarity more info
enables phosphatidylinositol-3-phosphate phosphatase activity	IBA Inferred from Biological aspect of Ancestor more info
enables phosphatidylinositol-3-phosphate phosphatase activity	IEA Inferred from Electronic Annotation more info
enables phosphatidylinositol-3-phosphate phosphatase activity	ISO Inferred from Sequence Orthology more info
enables phosphatidylinositol-3-phosphate phosphatase activity	ISS Inferred from Sequence or Structural Similarity more info
enables phosphoprotein phosphatase activity	IEA Inferred from Electronic Annotation more info
enables phosphoprotein phosphatase activity	ISO Inferred from Sequence Orthology more info
enables phosphoprotein phosphatase activity	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
acts_upstream_of TOR signaling	ISO Inferred from Sequence Orthology more info
acts_upstream_of autophagosome assembly	ISO Inferred from Sequence Orthology more info
involved_in biological_process	ND No biological Data available more info
involved_in endosome to lysosome transport	ISO Inferred from Sequence Orthology more info
involved_in endosome to lysosome transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in intermediate filament organization	ISO Inferred from Sequence Orthology more info
involved_in intermediate filament organization	ISS Inferred from Sequence or Structural Similarity more info
involved_in mitochondrion distribution	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within mitochondrion distribution	ISO Inferred from Sequence Orthology more info
involved_in mitochondrion distribution	ISO Inferred from Sequence Orthology more info
involved_in mitochondrion distribution	ISS Inferred from Sequence or Structural Similarity more info
involved_in mitochondrion organization	ISO Inferred from Sequence Orthology more info
involved_in mitochondrion organization	ISS Inferred from Sequence or Structural Similarity more info
involved_in muscle cell cellular homeostasis	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within muscle cell cellular homeostasis	ISO Inferred from Sequence Orthology more info
involved_in muscle cell cellular homeostasis	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within negative regulation of TOR signaling	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of autophagosome assembly	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within negative regulation of autophagosome assembly	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within negative regulation of proteasomal ubiquitin-dependent protein catabolic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of phosphatidylinositol 3-kinase/protein kinase B signal transduction	ISO Inferred from Sequence Orthology more info
involved_in phosphatidylinositol dephosphorylation	IBA Inferred from Biological aspect of Ancestor more info
involved_in phosphatidylinositol dephosphorylation	ISO Inferred from Sequence Orthology more info
involved_in phosphatidylinositol dephosphorylation	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within positive regulation of skeletal muscle tissue growth	ISO Inferred from Sequence Orthology more info
acts_upstream_of proteasome-mediated ubiquitin-dependent protein catabolic process	ISO Inferred from Sequence Orthology more info
involved_in protein transport	IEA Inferred from Electronic Annotation more info
involved_in regulation of vacuole organization	ISO Inferred from Sequence Orthology more info
involved_in regulation of vacuole organization	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of skeletal muscle tissue growth	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in I band	ISO Inferred from Sequence Orthology more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in filopodium	IEA Inferred from Electronic Annotation more info
located_in filopodium	ISO Inferred from Sequence Orthology more info
located_in filopodium	ISS Inferred from Sequence or Structural Similarity more info
located_in late endosome	IEA Inferred from Electronic Annotation more info
located_in late endosome	ISO Inferred from Sequence Orthology more info
located_in late endosome	ISS Inferred from Sequence or Structural Similarity more info
is_active_in membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in ruffle	IEA Inferred from Electronic Annotation more info
located_in ruffle	ISO Inferred from Sequence Orthology more info
located_in ruffle	ISS Inferred from Sequence or Structural Similarity more info
located_in sarcomere	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: myotubularin

Names: X-linked myotubular myopathy gene 1; phosphatidylinositol-3,5-bisphosphate 3-phosphatase; phosphatidylinositol-3-phosphate phosphatase

NP_001013065.2

EC 3.1.3.64

EC 3.1.3.95

NP_001386222.1

EC 3.1.3.64

EC 3.1.3.95

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001013047.2 → NP_001013065.2 myotubularin isoform 1

Status: VALIDATED

Source sequence(s)

JAXUCZ010000006

Related

ENSRNOP00000058761.5, ENSRNOT00000062057.5

Conserved Domains (2) summary

pfam06602
Location:162 → 489

Myotub-related; Myotubularin-like phosphatase domain

cl17171
Location:44 → 143

PH-like; Pleckstrin homology-like domain
NM_001399293.1 → NP_001386222.1 myotubularin isoform 2

Status: VALIDATED

Source sequence(s)

JAXUCZ010000006

UniProtKB/Swiss-Prot

Q5BK31, Q6AXQ4

Conserved Domains (2) summary

pfam06602
Location:162 → 489

Myotub-related; Myotubularin-like phosphatase domain

cl17171
Location:44 → 143

PH-like; Pleckstrin homology-like domain