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Aliases for ASCC1 Gene

Aliases for ASCC1 Gene

  • Activating Signal Cointegrator 1 Complex Subunit 1 2 3 5
  • ASC-1 Complex Subunit P50 3 4
  • Trip4 Complex Subunit P50 3 4
  • ASC1p50 3
  • CGI-18 3
  • SMABF2 3
  • P50 3

External Ids for ASCC1 Gene

Previous GeneCards Identifiers for ASCC1 Gene

  • GC10M073201
  • GC10M073526
  • GC10M073856
  • GC10M067850

Summaries for ASCC1 Gene

Entrez Gene Summary for ASCC1 Gene

  • This gene encodes a subunit of the activating signal cointegrator 1 (ASC-1) complex. The ASC-1 complex is a transcriptional coactivator that plays an important role in gene transactivation by multiple transcription factors including activating protein 1 (AP-1), nuclear factor kappa-B (NF-kB) and serum response factor (SRF). The encoded protein contains an N-terminal KH-type RNA-binding motif which is required for AP-1 transactivation by the ASC-1 complex. Mutations in this gene are associated with Barrett esophagus and esophageal adenocarcinoma. Alternatively spliced transcripts encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]

GeneCards Summary for ASCC1 Gene

ASCC1 (Activating Signal Cointegrator 1 Complex Subunit 1) is a Protein Coding gene. Diseases associated with ASCC1 include barrett esophagus/esophageal adenocarcinoma and adenocarcinoma. Among its related pathways are DNA Double-Strand Break Repair and DNA Damage Reversal. GO annotations related to this gene include nucleic acid binding and RNA binding.

UniProtKB/Swiss-Prot for ASCC1 Gene

  • Enhances NF-kappa-B, SRF and AP1 transactivation. In cells responding to gastrin-activated paracrine signals, it is involved in the induction of SERPINB2 expression by gastrin.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ASCC1 Gene

Genomics for ASCC1 Gene

Regulatory Elements for ASCC1 Gene

Promoters for ASCC1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ASCC1 on UCSC Golden Path with GeneCards custom track

Genomic Location for ASCC1 Gene

Chromosome:
10
Start:
72,096,032 bp from pter
End:
72,217,134 bp from pter
Size:
121,103 bases
Orientation:
Minus strand

Genomic View for ASCC1 Gene

Genes around ASCC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ASCC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ASCC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ASCC1 Gene

Proteins for ASCC1 Gene

  • Protein details for ASCC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N9N2-ASCC1_HUMAN
    Recommended name:
    Activating signal cointegrator 1 complex subunit 1
    Protein Accession:
    Q8N9N2
    Secondary Accessions:
    • Q5SW06
    • Q5SW07
    • Q96EI8
    • Q9Y307

    Protein attributes for ASCC1 Gene

    Size:
    400 amino acids
    Molecular mass:
    45509 Da
    Quaternary structure:
    • Part of TRIP4 complex, that contains ASCC1, ASCC2 and ASCC3. The TRIP4 complex interacts with ALKHB3.
    SequenceCaution:
    • Sequence=CAI15908.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for ASCC1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ASCC1 Gene

Proteomics data for ASCC1 Gene at MOPED

Post-translational modifications for ASCC1 Gene

  • Ubiquitination at Lys 331
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for ASCC1 Gene

Domains & Families for ASCC1 Gene

Graphical View of Domain Structure for InterPro Entry

Q8N9N2

UniProtKB/Swiss-Prot:

ASCC1_HUMAN :
  • Contains 1 KH domain.
Domain:
  • Contains 1 KH domain.
genes like me logo Genes that share domains with ASCC1: view

No data available for Gene Families for ASCC1 Gene

Function for ASCC1 Gene

Molecular function for ASCC1 Gene

UniProtKB/Swiss-Prot Function:
Enhances NF-kappa-B, SRF and AP1 transactivation. In cells responding to gastrin-activated paracrine signals, it is involved in the induction of SERPINB2 expression by gastrin.

Phenotypes for ASCC1 Gene

genes like me logo Genes that share phenotypes with ASCC1: view

Human Phenotype Ontology for ASCC1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for ASCC1 Gene

Localization for ASCC1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ASCC1 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ASCC1 Gene COMPARTMENTS Subcellular localization image for ASCC1 gene
Compartment Confidence
nucleus 5
cytosol 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for ASCC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with ASCC1: view

Pathways & Interactions for ASCC1 Gene

genes like me logo Genes that share pathways with ASCC1: view

Gene Ontology (GO) - Biological Process for ASCC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006307 DNA dealkylation involved in DNA repair TAS --
GO:0006355 regulation of transcription, DNA-templated IDA 12077347
genes like me logo Genes that share ontologies with ASCC1: view

No data available for SIGNOR curated interactions for ASCC1 Gene

Drugs & Compounds for ASCC1 Gene

No Compound Related Data Available

Transcripts for ASCC1 Gene

Unigene Clusters for ASCC1 Gene

Activating signal cointegrator 1 complex subunit 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ASCC1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13a · 13b
SP1: -
SP2: - - - -
SP3: - -
SP4: - -

Relevant External Links for ASCC1 Gene

GeneLoc Exon Structure for
ASCC1
ECgene alternative splicing isoforms for
ASCC1

Expression for ASCC1 Gene

mRNA expression in normal human tissues for ASCC1 Gene

Protein differential expression in normal tissues from HIPED for ASCC1 Gene

This gene is overexpressed in Lung (25.4), CD8 Tcells (7.7), Placenta (7.1), and Testis (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MOPED, and MaxQB for ASCC1 Gene



SOURCE GeneReport for Unigene cluster for ASCC1 Gene Hs.500007

mRNA Expression by UniProt/SwissProt for ASCC1 Gene

Q8N9N2-ASCC1_HUMAN
Tissue specificity: Ubiquitous.
genes like me logo Genes that share expression patterns with ASCC1: view

Protein tissue co-expression partners for ASCC1 Gene

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for ASCC1 Gene

Orthologs for ASCC1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ASCC1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ASCC1 36
  • 89 (a)
OneToOne
ASCC1 35
  • 99.44 (n)
  • 99.16 (a)
cow
(Bos Taurus)
Mammalia ASCC1 35
  • 92.16 (n)
  • 91.04 (a)
ASCC1 36
  • 81 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ASCC1 36
  • 82 (a)
OneToOne
ASCC1 35
  • 91.22 (n)
  • 91.6 (a)
mouse
(Mus musculus)
Mammalia Ascc1 16
Ascc1 36
  • 78 (a)
OneToOne
Ascc1 35
  • 83.61 (n)
  • 86.8 (a)
platypus
(Ornithorhynchus anatinus)
Mammalia ASCC1 36
  • 61 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ascc1 35
  • 84.46 (n)
  • 87.08 (a)
chicken
(Gallus gallus)
Aves ASCC1 35
  • 69.82 (n)
  • 69.09 (a)
ASCC1 36
  • 62 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ASCC1 36
  • 59 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ascc1 35
  • 65.73 (n)
  • 63.38 (a)
Str.20363 35
zebrafish
(Danio rerio)
Actinopterygii ASCC1 36
  • 42 (a)
OneToOne
ascc1 35
  • 62.03 (n)
  • 59.94 (a)
Dr.16673 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007571 35
  • 49.66 (n)
  • 39.53 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG12129 36
  • 29 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea C23H3.3 36
  • 22 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G16230 35
  • 46.11 (n)
  • 34.44 (a)
rice
(Oryza sativa)
Liliopsida Os01g0231900 35
  • 43.65 (n)
  • 31.29 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 37 (a)
OneToOne
Species with no ortholog for ASCC1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ASCC1 Gene

ENSEMBL:
Gene Tree for ASCC1 (if available)
TreeFam:
Gene Tree for ASCC1 (if available)

Paralogs for ASCC1 Gene

genes like me logo Genes that share paralogs with ASCC1: view

No data available for Paralogs for ASCC1 Gene

Variants for ASCC1 Gene

Sequence variations from dbSNP and Humsavar for ASCC1 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type
rs11558719 - 72,213,199(-) AAGAG(A/C/G)ACTTC nc-transcript-variant, reference, missense
rs146370051 - 72,133,059(+) TACCA(C/T)TGGGG nc-transcript-variant, reference, missense
rs1271933 -- 72,143,117(+) gatgg(C/T)gccac intron-variant
rs1273305 -- 72,142,958(+) agatc(G/T)agacc intron-variant
rs1245515 -- 72,139,335(+) ggtct(C/T)gatct intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ASCC1 Gene

Variant ID Type Subtype PubMed ID
nsv895718 CNV Loss 21882294
nsv895720 CNV Loss 21882294
esv2667465 CNV Deletion 23128226
dgv154e199 CNV Deletion 23128226
esv24033 CNV Loss 19812545
nsv442192 CNV CNV 18776908
esv2670261 CNV Deletion 23128226
nsv508592 CNV Loss 20534489
nsv895721 CNV Gain 21882294
esv2671699 CNV Deletion 23128226
esv2738385 CNV Deletion 23290073

Variation tolerance for ASCC1 Gene

Residual Variation Intolerance Score: 62.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.60; 78.12% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ASCC1 Gene

HapMap Linkage Disequilibrium report
ASCC1
Human Gene Mutation Database (HGMD)
ASCC1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ASCC1 Gene

Disorders for ASCC1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for ASCC1 Gene - From: OMIM, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
barrett esophagus/esophageal adenocarcinoma
  • esophageal cancer
adenocarcinoma
  • adenocarcinoma nos
- elite association - COSMIC cancer census association via MalaCards
Search ASCC1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ASCC1_HUMAN
  • Barrett esophagus (BE) [MIM:614266]: A condition characterized by a metaplastic change in which normal esophageal squamous epithelium is replaced by a columnar and intestinal-type epithelium. Patients with Barrett esophagus have an increased risk of esophageal adenocarcinoma. The main cause of Barrett esophagus is gastroesophageal reflux. The retrograde movement of acid and bile salts from the stomach into the esophagus causes prolonged injury to the esophageal epithelium and induces chronic esophagitis, which in turn is believed to trigger the pathologic changes. {ECO:0000269 PubMed:21791690}. Note=The gene represented in this entry may be involved in disease pathogenesis.

Relevant External Links for ASCC1

Genetic Association Database (GAD)
ASCC1
Human Genome Epidemiology (HuGE) Navigator
ASCC1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ASCC1
genes like me logo Genes that share disorders with ASCC1: view

No data available for Genatlas for ASCC1 Gene

Publications for ASCC1 Gene

  1. Novel transcription coactivator complex containing activating signal cointegrator 1. (PMID: 12077347) Jung D.-J. … Lee Y.C. (Mol. Cell. Biol. 2002) 2 3 4 67
  2. Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics. (PMID: 10810093) Lai C.-H. … Lin W.-C. (Genome Res. 2000) 2 3
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  4. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3
  5. Modification of ASC1 by UFM1 is crucial for ERalpha transactivation and breast cancer development. (PMID: 25219498) Yoo H.M. … Chung C.H. (Mol. Cell 2014) 3

Products for ASCC1 Gene

Sources for ASCC1 Gene

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