ASCC3 (activating signal cointegrator 1 complex subunit 3)

2012-01-01  

Identity

HGNC
ASCC3
LOCATION
6q16.3
LOCUSID
10973
ALIAS
ASC1p200,HELIC1,RNAH
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 10973
MIM: 614217
HGNC: 18697
Ensembl: ENSG00000112249

Variants:

dbSNP: 10973
ClinVar: 10973
TCGA: ENSG00000112249
COSMIC: ASCC3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000112249ENST00000324696J3KNJ4
ENSG00000112249ENST00000324723E5RFZ0
ENSG00000112249ENST00000369143Q8N3C0
ENSG00000112249ENST00000369162Q8N3C0
ENSG00000112249ENST00000522650Q8N3C0

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
DNA RepairREACTOMER-HSA-73894
DNA Damage ReversalREACTOMER-HSA-73942
Reversal of alkylation damage by DNA dioxygenasesREACTOMER-HSA-73943
ALKBH3 mediated reversal of alkylation damageREACTOMER-HSA-112126

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
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
220551842011DNA unwinding by ASCC3 helicase is coupled to ALKBH3-dependent DNA alkylation repair and cancer cell proliferation.58
237810712013A short hairpin RNA screen of interferon-stimulated genes identifies a novel negative regulator of the cellular antiviral response.43
282157062017UV Irradiation Induces a Non-coding RNA that Functionally Opposes the Protein Encoded by the Same Gene.42
204530002010A Large-scale genetic association study of esophageal adenocarcinoma risk.23
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.11
265366292015Correlations between ASCC3 Gene Polymorphisms and Chronic Hepatitis B in a Chinese Han Population.2

Citation

Dessen P

ASCC3 (activating signal cointegrator 1 complex subunit 3)

Atlas Genet Cytogenet Oncol Haematol. 2012-01-01

Online version: http://atlasgeneticsoncology.org/gene/52547/ascc3-(activating-signal-cointegrator-1-complex-subunit-3)