TOP1MT (DNA topoisomerase I mitochondrial)

2013-11-01  

Identity

HGNC
TOP1MT
LOCATION
8q24.3
LOCUSID
116447
ALIAS
-
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 116447
MIM: 606387
HGNC: 29787
Ensembl: ENSG00000184428

Variants:

dbSNP: 116447
ClinVar: 116447
TCGA: ENSG00000184428
COSMIC: TOP1MT

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000184428ENST00000329245Q969P6
ENSG00000184428ENST00000329245E5KMK7
ENSG00000184428ENST00000518007E5RGE7
ENSG00000184428ENST00000518760E5RGR4
ENSG00000184428ENST00000518951E5RGR2
ENSG00000184428ENST00000519139E5RIC7
ENSG00000184428ENST00000519148Q969P6
ENSG00000184428ENST00000519591E5RJ95
ENSG00000184428ENST00000519977H0YAR3
ENSG00000184428ENST00000520950E5RJ33
ENSG00000184428ENST00000521193Q969P6
ENSG00000184428ENST00000522041E5RFS0
ENSG00000184428ENST00000522043E5RFE3
ENSG00000184428ENST00000522121H0YBR3
ENSG00000184428ENST00000523417H0YC03
ENSG00000184428ENST00000523676Q969P6

Expression (GTEx)

0
5
10
15
20
25
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
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
204530002010A Large-scale genetic association study of esophageal adenocarcinoma risk.23
232618172013Collaborating functions of BLM and DNA topoisomerase I in regulating human rDNA transcription.18
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
306222572019The mitochondrial type IB topoisomerase drives mitochondrial translation and carcinogenesis.9
288743932017TOP1MT deficiency promotes GC invasion and migration via the enhancements of LDHA expression and aerobic glycolysis.7
241727502014Effect of oxindolimine copper(II) and zinc(II) complexes on human topoisomerase I activity.1
234225072013Role of human topoisomerase IB on ionizing radiation induced damage.0

Citation

Dessen P

TOP1MT (DNA topoisomerase I mitochondrial)

Atlas Genet Cytogenet Oncol Haematol. 2013-11-01

Online version: http://atlasgeneticsoncology.org/gene/53578/top1mt