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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 Spinal Muscular Atrophy With Congenital Bone Fractures 2. Among its related pathways are DNA Damage Reversal and DNA Double-Strand Break Repair. 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. May also play a role in the development of neuromuscular junction.

Additional gene information for ASCC1 Gene

No data available for CIViC summary , 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

Enhancers for ASCC1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH10H072241 2.3 VISTA FANTOM5 Ensembl ENCODE dbSUPER 17.7 -32.7 -32667 16 MLX DMAP1 YBX1 YY1 ZNF143 SP3 ZC3H11A MEF2D SSRP1 ZNF610 ECD DNAJB12 RPL17P50 ENSG00000272599 ASCC1 DDIT4 CHST3 DNAJC9 ENSG00000200170 ANAPC16
GH10H072270 1.5 ENCODE dbSUPER 16.1 -57.6 -57633 8 MLX ZFP64 FEZF1 DMAP1 YY1 ZNF143 SP3 NFYC ZC3H11A PPARGC1A ECD DNAJB12 ENSG00000227540 FAM149B1 RPL17P50 DNAJC9 ENSG00000272630 ASCC1 HMGN2P34 CDH23-AS1
GH10H072307 2 FANTOM5 Ensembl ENCODE dbSUPER 11.1 -92.4 -92364 3 HDGF PKNOX1 ARNT ARID4B ZNF766 CBX5 FOS REST SMARCB1 ZNF592 DNAJB12 DDIT4 RPL17P50 ECD ENSG00000200170 ANAPC16 ASCC1 PSAP DDIT4-AS1
GH10H072126 0.9 Ensembl ENCODE 22.8 +90.7 90734 0 CTCF ZNF654 REST RAD21 CC2D1A NFIC PRDM6 GATA2 IKZF1 SMC3 ASCC1 ANAPC16 ENSG00000200170 SPOCK2 GC10P072225
GH10H072258 2 FANTOM5 Ensembl ENCODE dbSUPER 5.6 -44.7 -44668 6 MLX ZFP64 FEZF1 DMAP1 YBX1 YY1 SLC30A9 ZNF143 SP3 NFYC DNAJB12 ECD RPL17P50 PSAP ASCC1 NUDT13 DNAJC9 DDIT4 VSIR GC10M072248
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ASCC1 on UCSC Golden Path with GeneCards custom track

Promoters for ASCC1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000029690 934 1601 HDGF PKNOX1 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1

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 the ASC-1 complex, that contains TRIP4, ASCC1, ASCC2 and ASCC3. The ASC-1 complex interacts with ALKBH3. Interacts with CSRP1.
    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

Post-translational modifications for ASCC1 Gene

  • Ubiquitination at posLast=331331
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for ASCC1 Gene

Domains & Families for ASCC1 Gene

Gene Families for ASCC1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for ASCC1 Gene

Graphical View of Domain Structure for InterPro Entry

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

No data available for UniProtKB/Swiss-Prot 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. May also play a role in the development of neuromuscular junction.

Phenotypes From GWAS Catalog for ASCC1 Gene

Gene Ontology (GO) - Molecular Function for ASCC1 Gene

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

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

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for ASCC1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for ASCC1 Gene

Localization for ASCC1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ASCC1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ASCC1 gene
Compartment Confidence
nucleus 5
cytosol 2
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ASCC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 12077347
GO:0005654 nucleoplasm TAS --
GO:0005667 transcription factor complex IDA 12077347
GO:0031594 neuromuscular junction IMP 26924529
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:0006351 transcription, DNA-templated IEA --
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:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for ASCC1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, PaxDb, MaxQB, and MOPED for ASCC1 Gene



Protein tissue co-expression partners for ASCC1 Gene

NURSA nuclear receptor signaling pathways regulating expression of ASCC1 Gene:

ASCC1

SOURCE GeneReport for Unigene cluster for ASCC1 Gene:

Hs.500007

mRNA Expression by UniProt/SwissProt for ASCC1 Gene:

Q8N9N2-ASCC1_HUMAN
Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for ASCC1 Gene

  • Nervous system(4.8)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ASCC1 Gene

Germ Layers:
  • ectoderm
  • endoderm
Systems:
  • digestive
  • nervous
Organs:
Head and neck:
  • brain
  • head
Thorax:
  • esophagus
Abdomen:
  • stomach
genes like me logo Genes that share expression patterns with ASCC1: view

Primer 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 33 34
  • 99.44 (n)
cow
(Bos Taurus)
Mammalia ASCC1 33 34
  • 92.16 (n)
dog
(Canis familiaris)
Mammalia ASCC1 33 34
  • 91.22 (n)
rat
(Rattus norvegicus)
Mammalia Ascc1 33
  • 84.46 (n)
mouse
(Mus musculus)
Mammalia Ascc1 33 16 34
  • 83.61 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ASCC1 34
  • 61 (a)
OneToOne
chicken
(Gallus gallus)
Aves ASCC1 33 34
  • 69.82 (n)
lizard
(Anolis carolinensis)
Reptilia ASCC1 34
  • 59 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ascc1 33
  • 65.73 (n)
Str.20363 33
zebrafish
(Danio rerio)
Actinopterygii ascc1 33
  • 62.03 (n)
ASCC1 34
  • 42 (a)
OneToOne
Dr.16673 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007571 33
  • 49.66 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG12129 34
  • 29 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea C23H3.3 34
  • 22 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G16230 33
  • 46.11 (n)
rice
(Oryza sativa)
Liliopsida Os01g0231900 33
  • 43.65 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 37 (a)
OneToOne
Species where no ortholog for ASCC1 was found in the sources mined by GeneCards:
  • 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

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
rs146370051 Pathogenic 72,133,059(+) TACCA(C/T)TGGGG nc-transcript-variant, reference, missense
rs753324947 Pathogenic 72,210,786(+) CTGCT(-/C)CCACC nc-transcript-variant, reference, frameshift-variant
rs1000003004 -- 72,131,514(+) TATTA(A/C)CTACC intron-variant
rs1000012660 -- 72,147,775(+) TAAAT(A/G)GAAAT intron-variant
rs1000026373 -- 72,208,478(+) TTTGT(A/G)GCCGG intron-variant

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

Variant ID Type Subtype PubMed ID
dgv154e199 CNV deletion 23128226
dgv477n106 CNV tandem duplication 24896259
esv24033 CNV loss 19812545
esv2667465 CNV deletion 23128226
esv2670261 CNV deletion 23128226
esv2671699 CNV deletion 23128226
esv2738385 CNV deletion 23290073
esv3623791 CNV loss 21293372
esv3623792 CNV loss 21293372
esv3623794 CNV loss 21293372
esv3891857 CNV loss 25118596
nsv1069497 CNV deletion 25765185
nsv1126259 CNV deletion 24896259
nsv1145468 CNV deletion 24896259
nsv1161975 CNV duplication 26073780
nsv442192 CNV loss 18776908
nsv508592 CNV deletion 20534489
nsv551513 CNV loss 21841781
nsv948062 CNV duplication 23825009

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

Human Gene Mutation Database (HGMD)
ASCC1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ASCC1

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

Disorders for ASCC1 Gene

MalaCards: The human disease database

(6) MalaCards diseases for ASCC1 Gene - From: HGMD, OMIM, ClinVar, GeneTests, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
barrett esophagus/esophageal adenocarcinoma
  • esophageal cancer
spinal muscular atrophy with congenital bone fractures 2
  • smabf2
congenital contractures
  • congenital contracture
muscular atrophy
  • amyotrophia
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.
  • Spinal muscular atrophy with congenital bone fractures 2 (SMABF2) [MIM:616867]: An autosomal recessive neuromuscular disorder characterized by prenatal-onset spinal muscular atrophy, multiple congenital contractures consistent with arthrogryposis multiplex congenita, respiratory distress, and congenital bone fractures. {ECO:0000269 PubMed:26924529}. Note=The disease is caused by mutations affecting the gene represented in this entry.

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 DJ … Lee YC (Molecular and cellular biology 2002) 2 3 4 60
  2. Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics. (PMID: 10810093) Lai CH … Lin W (Genome research 2000) 2 3 4 60
  3. Mutations in Subunits of the Activating Signal Cointegrator 1 Complex Are Associated with Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures. (PMID: 26924529) Knierim E … Schuelke M (American journal of human genetics 2016) 3 4 60
  4. Germline mutations in MSR1, ASCC1, and CTHRC1 in patients with Barrett esophagus and esophageal adenocarcinoma. (PMID: 21791690) Orloff M … Eng C (JAMA 2011) 3 4 60
  5. Genetic variation in healthy oldest-old. (PMID: 19680556) Halaschek-Wiener J … Brooks-Wilson AR (PloS one 2009) 3 45 60

Products for ASCC1 Gene

Sources for ASCC1 Gene

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