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Aliases for ASCC1 Gene

Aliases for ASCC1 Gene

  • Activating Signal Cointegrator 1 Complex Subunit 1 2 3
  • ASC-1 Complex Subunit P50 3 4
  • Trip4 Complex Subunit P50 3 4
  • P50 3 6
  • ASC1p50 3
  • CGI-18 3

External Ids for ASCC1 Gene

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. GO annotations related to this gene include 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

Genomic Location for ASCC1 Gene

Start:
72,096,032 bp from pter
End:
72,217,232 bp from pter
Size:
121,201 bases
Orientation:
Minus strand

Genomic View for ASCC1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ASCC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ASCC1 Gene

Regulatory Elements 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

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys331

No data available for DME Specific Peptides for ASCC1 Gene

Domains for ASCC1 Gene

UniProtKB/Swiss-Prot:

ASCC1_HUMAN
Domain:
  • Contains 1 KH domain.:
    • Q8N9N2
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.

Gene Ontology (GO) - Molecular Function for ASCC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding --
GO:0003723 RNA binding IEA --
GO:0003824 catalytic activity --
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with ASCC1: view

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , miRNA , Transcription Factor Targeting 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:0005654 nucleoplasm TAS --
GO:0005667 transcription factor complex IDA 12077347
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with ASCC1: view

Pathways for ASCC1 Gene

SuperPathways for ASCC1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for ASCC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006281 DNA repair TAS --
GO:0006307 DNA dealkylation involved in DNA repair TAS --
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IDA 12077347
GO:0008152 metabolic process --
genes like me logo Genes that share ontologies with ASCC1: view

No data available for Pathways by source for ASCC1 Gene

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

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, 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 expressions with ASCC1: view

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
  • 99.44 (n)
  • 99.16 (a)
ASCC1 37
  • 89 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ASCC1 36
  • 92.16 (n)
  • 91.04 (a)
ASCC1 37
  • 81 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ASCC1 36
  • 91.22 (n)
  • 91.6 (a)
ASCC1 37
  • 82 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ascc1 36
  • 83.61 (n)
  • 86.8 (a)
Ascc1 16
Ascc1 37
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ASCC1 37
  • 61 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ascc1 36
  • 84.46 (n)
  • 87.08 (a)
chicken
(Gallus gallus)
Aves ASCC1 36
  • 69.82 (n)
  • 69.09 (a)
ASCC1 37
  • 62 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ASCC1 37
  • 59 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ascc1 36
  • 65.73 (n)
  • 63.38 (a)
Str.20363 36
zebrafish
(Danio rerio)
Actinopterygii ascc1 36
  • 62.03 (n)
  • 59.94 (a)
ASCC1 37
  • 42 (a)
OneToOne
Dr.16673 36
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007571 36
  • 49.66 (n)
  • 39.53 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG12129 37
  • 29 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea C23H3.3 37
  • 22 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G16230 36
  • 46.11 (n)
  • 34.44 (a)
rice
(Oryza sativa)
Liliopsida Os01g0231900 36
  • 43.65 (n)
  • 31.29 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 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 MAF
rs3312 -- 72,097,226(-) GACTT(C/T)CCTGG utr-variant-3-prime, nc-transcript-variant, downstream-variant-500B
rs751207 -- 72,127,857(-) tttat(C/G)tgaga intron-variant
rs869734 -- 72,127,177(+) AAAAC(A/T)CCCAT intron-variant
rs921360 -- 72,107,781(-) ATGTT(A/C)AGATT intron-variant
rs921361 -- 72,107,696(-) TTTTT(A/G)TGCCC 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

Relevant External Links for ASCC1 Gene

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

Disorders for ASCC1 Gene

(1) OMIM Diseases for ASCC1 Gene (614215)

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

Publications for ASCC1 Gene

  1. 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 4
  2. Novel transcription coactivator complex containing activating signal cointegrator 1. (PMID: 12077347) Jung D.-J. … Lee Y.C. (Mol. Cell. Biol. 2002) 2 3 4
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  5. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PMID: 16385451) Grupe A. … Goate A. (Am. J. Hum. Genet. 2006) 3 49

Products for ASCC1 Gene

Sources for ASCC1 Gene

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