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Aliases for ASCC1 Gene

Aliases for ASCC1 Gene

  • Activating Signal Cointegrator 1 Complex Subunit 1 2 3 4 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 Spinal Muscular Atrophy With Congenital Bone Fractures 2 and Barrett Esophagus. Among its related pathways are DNA Damage Reversal and DNA Double-Strand Break Repair. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and RNA binding.

UniProtKB/Swiss-Prot for ASCC1 Gene

  • Plays a role in DNA damage repair as component of the ASCC complex (PubMed:29997253). Part of the ASC-1 complex that enhances NF-kappa-B, SRF and AP1 transactivation (PubMed:12077347). 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

GeneHancer (GH) Regulatory Elements for ASCC1 Gene

Promoters and enhancers for ASCC1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH10J072212 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 606.2 +0.6 618 7.1 HDGF SP1 CC2D1A ZFX ELF3 ZKSCAN8 MNT ZNF148 POLR2A MLLT1 ANAPC16 ASCC1 DNAJB12 ECD ENSG00000272630 RPL15P14 NUDT13 FAM149B1
GH10J072270 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE dbSUPER 16.1 -57.6 -57633 8.5 MTA3 SP1 CC2D1A ZFX CTCF ELF3 ZKSCAN8 MNT NKRF POLR2A DDIT4 DDIT4-AS1 ECD DNAJB12 ENSG00000227540 FAM149B1 DNAJC9 RPL17P50 ENSG00000272630 ASCC1
GH10J072126 Enhancer 0.9 Ensembl ENCODE 22.8 +90.4 90442 1 CC2D1A CTCF RAD21 CREB1 PKNOX1 ARID2 IKZF1 REST ATF7 ZNF629 ASCC1 ANAPC16 ENSG00000200170 SPOCK2 GC10P072232
GH10J072124 Enhancer 0.8 Ensembl ENCODE 22.8 +92.7 92733 2.8 ZEB2 ZNF561 OSR2 BCL11A OVOL3 ZNF768 WT1 ZNF18 FEZF1 KLF10 ASCC1 SPOCK2 ANAPC16 ENSG00000200170 ENSG00000200294 GC10P072232
GH10J072106 Enhancer 1.1 Ensembl ENCODE dbSUPER 16.6 +109.6 109633 8.2 NCOA3 SP7 ZNF680 CREB1 ZNF341 ZNF316 RCOR1 RUNX3 MYNN ZBTB17 SPOCK2 ASCC1 ENSG00000200294 ANAPC16 ENSG00000200170 RPL15P14 CHST3 GC10P072232
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ASCC1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ASCC1 gene promoter:
  • AhR
  • AREB6
  • Arnt
  • Meis-1
  • Meis-1a
  • NRSF form 1
  • NRSF form 2
  • SRY
  • TBP
  • TFIID

Genomic Locations for ASCC1 Gene

Genomic Locations for ASCC1 Gene
chr10:72,096,032-72,217,134
(GRCh38/hg38)
Size:
121,103 bases
Orientation:
Minus strand
chr10:73,856,274-73,976,892
(GRCh37/hg19)
Size:
120,619 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:
    • Identified in the ASCC complex that contains ASCC1, ASCC2 and ASCC3 (PubMed:29144457, PubMed:29997253). Interacts directly with ASCC3 (PubMed:29997253). The ASCC complex interacts with ALKBH3 (PubMed:29144457, PubMed:22055184). Part of the ASC-1 complex, that contains TRIP4, ASCC1, ASCC2 and ASCC3 (PubMed:12077347). Interacts with CSRP1 (PubMed:26924529).

    Alternative splice isoforms for ASCC1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ASCC1 Gene

Post-translational modifications for ASCC1 Gene

  • Ubiquitination at isoforms=2331
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for ASCC1 Gene

Domains & Families for ASCC1 Gene

Gene Families for ASCC1 Gene

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

Suggested Antigen Peptide Sequences for ASCC1 Gene

GenScript: Design optimal peptide antigens:
  • Trip4 complex subunit p50 (ASCC1_HUMAN)
  • cDNA FLJ39090 fis, clone NT2RP7019445, highly similar to Activating signal cointegrator 1 complex subunit 1 (B3KU20_HUMAN)

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:
Plays a role in DNA damage repair as component of the ASCC complex (PubMed:29997253). Part of the ASC-1 complex that enhances NF-kappa-B, SRF and AP1 transactivation (PubMed:12077347). 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
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

Clone Products

  • Applied Biological Materials (abm): Clones for ASCC1 - Now 50% OFF >
  • * ASCC1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * ASCC1 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

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

Nucleus. Nucleus speckle. Note=Colocalizes with PRPF8 in nuclear speckles in the absence of DNA damage. {ECO:0000269 PubMed:29997253}.

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 0

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 IDA,IEA 12077347
GO:0005654 nucleoplasm TAS --
GO:0005667 transcription factor complex IDA 12077347
GO:0016607 nuclear speck IEA --
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:0006281 DNA repair IEA --
GO:0006307 DNA dealkylation involved in DNA repair TAS --
GO:0006355 regulation of transcription, DNA-templated IDA 12077347
GO:0006974 cellular response to DNA damage stimulus IEA --
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

Clone Products

  • Applied Biological Materials (abm): Clones for ASCC1 - Now 50% OFF >
  • * ASCC1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * ASCC1 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

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, 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
Regions:
Head and neck:
  • brain
  • head
Thorax:
  • esophagus
Abdomen:
  • stomach
genes like me logo Genes that share expression patterns with ASCC1: view

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 35 34
  • 99.44 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ASCC1 35 34
  • 92.16 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ASCC1 35 34
  • 91.22 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ascc1 34
  • 84.46 (n)
mouse
(Mus musculus)
Mammalia Ascc1 17 35 34
  • 83.61 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ASCC1 35
  • 61 (a)
OneToOne
chicken
(Gallus gallus)
Aves ASCC1 35 34
  • 69.82 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ASCC1 35
  • 59 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ascc1 34
  • 65.73 (n)
Str.20363 34
zebrafish
(Danio rerio)
Actinopterygii ascc1 34
  • 62.03 (n)
ASCC1 35
  • 42 (a)
OneToOne
Dr.16673 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007571 34
  • 49.66 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG12129 35
  • 29 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea C23H3.3 35
  • 22 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G16230 34
  • 46.11 (n)
rice
(Oryza sativa)
Liliopsida Os01g0231900 34
  • 43.65 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for ASCC1: view image

Paralogs for ASCC1 Gene

(35) SIMAP similar genes for ASCC1 Gene using alignment to 13 proteins:

  • ASCC1_HUMAN
  • E9PJM2_HUMAN
  • E9PKM6_HUMAN
  • E9PL92_HUMAN
  • E9PM82_HUMAN
  • E9PQ44_HUMAN
  • E9PQZ6_HUMAN
  • E9PR40_HUMAN
  • F5H874_HUMAN
  • H0YCB3_HUMAN
  • H0YE76_HUMAN
  • H0YE79_HUMAN
  • H0YER2_HUMAN
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 Variation AA Info Type
rs146370051 pathogenic, Barrett esophagus/esophageal adenocarcinoma, - 72,133,059(-) T/C coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs753324947 pathogenic, Spinal muscular atrophy with congenital bone fractures 2 72,210,787(-) CC/CCC coding_sequence_variant, frameshift, non_coding_transcript_variant
rs1000003004 -- 72,131,514(-) C/A intron_variant
rs1000012660 -- 72,147,775(-) G/A intron_variant
rs1000026373 -- 72,208,478(-) G/A 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)

Additional Variant Information for ASCC1 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for ASCC1 Gene

MalaCards: The human disease database

(7) MalaCards diseases for ASCC1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- 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.

Additional Disease Information for ASCC1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 58
  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 58
  3. RNA ligase-like domain in activating signal cointegrator 1 complex subunit 1 (ASCC1) regulates ASCC complex function during alkylation damage. (PMID: 29997253) Soll JM … Mosammaparast N (The Journal of biological chemistry 2018) 3 4 58
  4. 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 58
  5. 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 58

Products for ASCC1 Gene

Sources for ASCC1 Gene

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