myotubularin 1

Summary
Gene Symbol
  • MTM1
Organism
Homo sapiens (human)
External Links
NCBI Gene
4534
HGNC
7448
KEGG Gene ID
hsa:4534
PubChem
4534
Alliance of Genome Resources
Annotation
Keyword
  • Alternative splicing
  • Cell membrane
  • Cell projection
  • Cytoplasm
  • Disease variant
  • Endosome
  • Lipid metabolism
  • Phosphoprotein
  • Protein phosphatase
  • Protein transport
  • Proteomics identification
  • Reference proteome
Proteins
Displaying all 3 entries
UniProt Protein Name
A0A8I5KQR6
  • Phosphatidylinositol-3-phosphate phosphatase
A0A8I5KZ76
  • Phosphatidylinositol-3,5-bisphosphate 3-phosphatase
  • Phosphatidylinositol-3-phosphate phosphatase
Q13496
  • Phosphatidylinositol-3,5-bisphosphate 3-phosphatase
  • Phosphatidylinositol-3-phosphate phosphatase
Gene Ontology (GO)
GO Hierarchy
Human Protein Atlas
ENSG00000171100

soft tissue soft tissue blood blood blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node kidney kidney adrenal gland adrenal gland breast breast duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland nasopharynx nasopharynx tongue tonsil tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder ductus deferens ductus deferens seminal vesicle seminal vesicle seminal vesicle seminal vesicle testis testis epididymis epididymis brain smooth muscle urinary bladder prostate bone marrow skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus cartilage sole of foot sole of foot soft tissue blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lactating breast lactating breast kidney kidney adrenal gland adrenal gland duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland salivary gland salivary gland salivary gland salivary gland salivary gland nasopharynx tongue tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder brain skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus smooth muscle urinary bladder vagina ovary ovary fallopian tube fallopian tube endometrium placenta cervix cervix bone marrow cartilage sole of foot sole of foot olfactory region cerebral cortex cerebellum medulla pons midbrain pituitary gland hypothalamus amygdala thalamus choroid plexus choroid plexus corpus callosum basal ganglia substantia nigra dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe caudate hippocampus retina retina

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

KEGG BRITE Database
Orthology
K01108
Name
myotubularin [EC:3.1.3.64 3.1.3.95]
References
Disease
Disease Ontology
Displaying entries 1 - 10 of 185 in total
DO ID Disease Name Source
DOID:0080102 congenital myopathy 4A
DOID:0050539 Charcot-Marie-Tooth disease type 2
DOID:0050541 Charcot-Marie-Tooth disease type 4
DOID:0050588 muscular dystrophy-dystroglycanopathy type B1
DOID:0050759 myotonic dystrophy type 2
DOID:0050820 atrioventricular block
DOID:0060000 infective endocarditis
DOID:0060249 scoliosis
DOID:0060260 ptosis
DOID:0060261 congenital ptosis
The Human Phenotype Ontology
Displaying entries 1 - 10 of 54 in total
HPO ID HPO Term
HP:0000028 Cryptorchidism
HP:0000048 Bifid scrotum
HP:0000054 Micropenis
HP:0000218 High palate
HP:0000238 Hydrocephalus
HP:0000256 Macrocephaly
HP:0000268 Dolichocephaly
HP:0000275 Narrow face
HP:0000276 Long face
HP:0000278 Retrognathia
Displaying all 3 entries
Disease ID Disease Name
ORPHA:456328
  • X-linked myotubular myopathy-abnormal genitalia syndrome
ORPHA:596
  • X-linked myotubular myopathy
OMIM:310400
  • X-linked myotubular myopathy

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024