ASCC1 (activating signal cointegrator 1 complex subunit 1)

2007-04-01  

Identity

HGNC
ASCC1
LOCATION
10q22.1
LOCUSID
51008
ALIAS
ASC1p50,CGI-18,SMABF2,p50
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 51008
MIM: 614215
HGNC: 24268
Ensembl: ENSG00000138303

Variants:

dbSNP: 51008
ClinVar: 51008
TCGA: ENSG00000138303
COSMIC: ASCC1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000138303ENST00000317126Q8N9N2
ENSG00000138303ENST00000317126A0A024QZM0
ENSG00000138303ENST00000317168Q8N9N2
ENSG00000138303ENST00000342444Q8N9N2
ENSG00000138303ENST00000394915Q8N9N2
ENSG00000138303ENST00000394919Q8N9N2
ENSG00000138303ENST00000394919A0A024QZM0
ENSG00000138303ENST00000461369H0YE79
ENSG00000138303ENST00000486689H0YCB3
ENSG00000138303ENST00000524829E9PKM6
ENSG00000138303ENST00000525286H0YE76
ENSG00000138303ENST00000526751E9PL92
ENSG00000138303ENST00000527593E9PQZ6
ENSG00000138303ENST00000530394H0YER2
ENSG00000138303ENST00000530461E9PM82
ENSG00000138303ENST00000531048E9PR40
ENSG00000138303ENST00000532011E9PQ44
ENSG00000138303ENST00000533958E9PJM2
ENSG00000138303ENST00000672957A0A024QZM0

Expression (GTEx)

0
5
10
15
20
25
30
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
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 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
387507932024ASCC1 structures and bioinformatics reveal a novel helix-clasp-helix RNA-binding motif linked to a two-histidine phosphodiesterase.0
387507932024ASCC1 structures and bioinformatics reveal a novel helix-clasp-helix RNA-binding motif linked to a two-histidine phosphodiesterase.0
358380822022Congenital myopathy as a new phenotype caused by two undescribed variants in ASCC1 gene.1
358380822022Congenital myopathy as a new phenotype caused by two undescribed variants in ASCC1 gene.1
339319332021Biallelic ASCC1 variants including a novel intronic variant result in expanded phenotypic spectrum of spinal muscular atrophy with congenital bone fractures 2 (SMABF2).2
342049192021Inherited Defects of the ASC-1 Complex in Congenital Neuromuscular Diseases.3
339319332021Biallelic ASCC1 variants including a novel intronic variant result in expanded phenotypic spectrum of spinal muscular atrophy with congenital bone fractures 2 (SMABF2).2
342049192021Inherited Defects of the ASC-1 Complex in Congenital Neuromuscular Diseases.3
318803962020A new case of SMABF2 diagnosed in stillbirth expands the prenatal presentation and mutational spectrum of ASCC1.6
326539582020Association between non-Caucasian-specific ASCC1 gene polymorphism and osteoporosis and obesity in Korean postmenopausal women.2
318803962020A new case of SMABF2 diagnosed in stillbirth expands the prenatal presentation and mutational spectrum of ASCC1.6
326539582020Association between non-Caucasian-specific ASCC1 gene polymorphism and osteoporosis and obesity in Korean postmenopausal women.2
303274472019Novel ASCC1 mutations causing prenatal-onset muscle weakness with arthrogryposis and congenital bone fractures.11
303274472019Novel ASCC1 mutations causing prenatal-onset muscle weakness with arthrogryposis and congenital bone fractures.11
299972532018RNA ligase-like domain in activating signal cointegrator 1 complex subunit 1 (ASCC1) regulates ASCC complex function during alkylation damage.18

Citation

Dessen P

ASCC1 (activating signal cointegrator 1 complex subunit 1)

Atlas Genet Cytogenet Oncol Haematol. 2007-04-01

Online version: http://atlasgeneticsoncology.org/gene/46807/gene-fusions/css/lib/css/template-nav.css