MTMR1 (myotubularin related protein 1)

2014-11-01  

Identity

HGNC
MTMR1
LOCATION
Xq28
LOCUSID
8776
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 8776
MIM: 300171
HGNC: 7449
Ensembl: ENSG00000063601

Variants:

dbSNP: 8776
ClinVar: 8776
TCGA: ENSG00000063601
COSMIC: MTMR1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000063601ENST00000370390Q13613
ENSG00000063601ENST00000429965F8W764
ENSG00000063601ENST00000434699F8W764
ENSG00000063601ENST00000436701H7C406
ENSG00000063601ENST00000438018H7BZJ1
ENSG00000063601ENST00000439546F8W8S8
ENSG00000063601ENST00000445323F8WA39
ENSG00000063601ENST00000485376Q13613
ENSG00000063601ENST00000488357H0YDX3
ENSG00000063601ENST00000490316E9PPP8
ENSG00000063601ENST00000493995E9PIH9
ENSG00000063601ENST00000542156Q8NEC6

Expression (GTEx)

0
5
10
15
20
25
30
35
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Inositol phosphate metabolismKEGGko00562
Phosphatidylinositol signaling systemKEGGko04070
Inositol phosphate metabolismKEGGhsa00562
Phosphatidylinositol signaling systemKEGGhsa04070
Metabolic pathwaysKEGGhsa01100
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Phospholipid metabolismREACTOMER-HSA-1483257
PI MetabolismREACTOMER-HSA-1483255
Synthesis of PIPs at the plasma membraneREACTOMER-HSA-1660499

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
129255732003Myotubularins, a large disease-associated family of cooperating catalytically active and inactive phosphoinositides phosphatases.68
122179582002Muscle-specific alternative splicing of myotubularin-related 1 gene is impaired in DM1 muscle cells.31
206852722010Analysis of MTMR1 expression and correlation with muscle pathological features in juvenile/adult onset myotonic dystrophy type 1 (DM1) and in myotonic dystrophy type 2 (DM2).2

Citation

Dessen P

MTMR1 (myotubularin related protein 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/70555/mtmr1