MSTO1 (misato mitochondrial distribution and morphology regulator 1)

2018-07-01  

Identity

HGNC
MSTO1
LOCATION
1q22
LOCUSID
55154
ALIAS
LST005,MMYAT,MST

Other Information

Locus ID:

NCBI: 55154
MIM: 617619
HGNC: 29678
Ensembl: ENSG00000125459

Variants:

dbSNP: 55154
ClinVar: 55154
TCGA: ENSG00000125459
COSMIC: MSTO1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000125459ENST00000245564Q9BUK6
ENSG00000125459ENST00000368341Q9BUK6
ENSG00000125459ENST00000462250V9GYF2
ENSG00000125459ENST00000490743Q9BUK6
ENSG00000125459ENST00000649846A0A3B3IUD2

Expression (GTEx)

0
5
10
15
20
25
30
35
40
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

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
pancreas
kidney
urinary bladder
testis
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
285549422017MSTO1 is a cytoplasmic pro-mitochondrial fusion protein, whose mutation induces myopathy and ataxia in humans.14
173499982007Human Misato regulates mitochondrial distribution and morphology.9
285442752017Recessive mutations in MSTO1 cause mitochondrial dynamics impairment, leading to myopathy and ataxia.9
293397792018Novel recessive mutations in MSTO1 cause cerebellar atrophy with pigmentary retinopathy.3

Citation

Dessen P

MSTO1 (misato mitochondrial distribution and morphology regulator 1)

Atlas Genet Cytogenet Oncol Haematol. 2018-07-01

Online version: http://atlasgeneticsoncology.org/gene/57443/msto1