Free for academic non-profit institutions. Other users need a Commercial license

Aliases for ASCC3 Gene

Aliases for ASCC3 Gene

  • Activating Signal Cointegrator 1 Complex Subunit 3 2 3 5
  • Helicase, ATP Binding 1 2 3 4
  • ASC-1 Complex Subunit P200 3 4
  • Trip4 Complex Subunit P200 3 4
  • RNA Helicase Family 2 3
  • ASC1p200 3 4
  • HELIC1 3 4
  • EC 3.6.4.12 4
  • RNAH 3

External Ids for ASCC3 Gene

Previous HGNC Symbols for ASCC3 Gene

  • HELIC1

Previous GeneCards Identifiers for ASCC3 Gene

  • GC06M101063
  • GC06M100956
  • GC06M098395

Summaries for ASCC3 Gene

Entrez Gene Summary for ASCC3 Gene

  • This gene encodes a protein that belongs to a family of helicases that are involved in the ATP-dependent unwinding of nucleic acid duplexes. The encoded protein is the largest subunit of the activating signal cointegrator 1 complex that is involved in DNA repair and resistance to alkylation damage. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]

GeneCards Summary for ASCC3 Gene

ASCC3 (Activating Signal Cointegrator 1 Complex Subunit 3) is a Protein Coding gene. Among its related pathways are DNA Damage Reversal and Mesodermal Commitment Pathway. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and hydrolase activity. An important paralog of this gene is SNRNP200.

UniProtKB/Swiss-Prot for ASCC3 Gene

  • 3-5 DNA helicase involved in repair of alkylated DNA. Promotes DNA unwinding to generate single-stranded substrate needed for ALKBH3, enabling ALKBH3 to process alkylated N3-methylcytosine (3mC) within double-stranded regions. Enhances NF-kappa-B, SRF and AP1 transactivation.

Gene Wiki entry for ASCC3 Gene

Additional gene information for ASCC3 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ASCC3 Gene

Genomics for ASCC3 Gene

GeneHancer (GH) Regulatory Elements for ASCC3 Gene

Promoters and enhancers for ASCC3 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
GH06I100877 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 580.9 +1.3 1345 4.5 HDGF PKNOX1 SMAD1 FOXA2 MLX ARID4B SIN3A DMAP1 ZNF2 YY1 ASCC3 LOC102724422 GC06P100882 GRIK2 GC06M100662
GH06I100453 Enhancer 1.5 VISTA FANTOM5 ENCODE dbSUPER 18.8 +424.9 424864 6.4 ZNF202 PKNOX1 SUZ12 RNF2 BMI1 SP1 CBX8 PRDM6 POLR2A SMARCA4 ASCC3 LOC102724406 RPS3P5 SIM1 GC06P100411
GH06I100948 Enhancer 0.9 ENCODE 17.3 -67.4 -67428 0.1 HDAC1 FOXA2 RARA RFX5 TCF12 ATF7 CREM THAP11 HMG20B RXRA ASCC3 LOC728098 LOC102724422 GC06P101131
GH06I100460 Enhancer 1.1 ENCODE dbSUPER 11.4 +417.9 417919 5.4 PKNOX1 FEZF1 ZNF2 ZNF121 GLIS2 ZNF213 FOS RUNX3 KLF13 SP3 SIM1 ASCC3 LOC102724406 RPS3P5 GC06P100411
GH06I100720 Enhancer 0.9 Ensembl ENCODE 12.9 +160.9 160929 0.5 MEIS2 CTCF IRF2 PKNOX1 TEAD4 TAL1 ZNF133 RAD21 TCF12 CC2D1A ASCC3 GC06M100662
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ASCC3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ASCC3 gene promoter:

Genomic Locations for ASCC3 Gene

Genomic Locations for ASCC3 Gene
chr6:100,508,194-100,881,372
(GRCh38/hg38)
Size:
373,179 bases
Orientation:
Minus strand
chr6:100,956,070-101,329,248
(GRCh37/hg19)

Genomic View for ASCC3 Gene

Genes around ASCC3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ASCC3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ASCC3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ASCC3 Gene

Proteins for ASCC3 Gene

  • Protein details for ASCC3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N3C0-ASCC3_HUMAN
    Recommended name:
    Activating signal cointegrator 1 complex subunit 3
    Protein Accession:
    Q8N3C0
    Secondary Accessions:
    • E7EW23
    • O43738
    • Q4G1A0
    • Q5VTN2
    • Q9H1I9
    • Q9H5A2
    • Q9NTR0

    Protein attributes for ASCC3 Gene

    Size:
    2202 amino acids
    Molecular mass:
    251460 Da
    Quaternary structure:
    • Part of the ASC-1/TRIP4 complex, that contains TRIP4, ASCC1, ASCC2 and ASCC3. The ASC-1 complex interacts with ALKBH3.
    SequenceCaution:
    • Sequence=AAG45474.1; Type=Frameshift; Positions=2175; Evidence={ECO:0000305}; Sequence=CAA11679.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAA11679.1; Type=Frameshift; Positions=2175; Evidence={ECO:0000305};

    Alternative splice isoforms for ASCC3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ASCC3 Gene

Post-translational modifications for ASCC3 Gene

  • Ubiquitination at Lys236, posLast=319319, posLast=423423, posLast=860860, posLast=938938, posLast=13821382, and posLast=15431543

No data available for DME Specific Peptides for ASCC3 Gene

Domains & Families for ASCC3 Gene

Gene Families for ASCC3 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for ASCC3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8N3C0

UniProtKB/Swiss-Prot:

ASCC3_HUMAN :
  • Belongs to the helicase family.
Family:
  • Belongs to the helicase family.
genes like me logo Genes that share domains with ASCC3: view

Function for ASCC3 Gene

Molecular function for ASCC3 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
ATP + H(2)O = ADP + phosphate.
UniProtKB/Swiss-Prot Function:
3-5 DNA helicase involved in repair of alkylated DNA. Promotes DNA unwinding to generate single-stranded substrate needed for ALKBH3, enabling ALKBH3 to process alkylated N3-methylcytosine (3mC) within double-stranded regions. Enhances NF-kappa-B, SRF and AP1 transactivation.

Enzyme Numbers (IUBMB) for ASCC3 Gene

Phenotypes From GWAS Catalog for ASCC3 Gene

Gene Ontology (GO) - Molecular Function for ASCC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
GO:0003723 RNA binding HDA,IDA 22681889
GO:0004386 helicase activity IEA --
GO:0005515 protein binding IPI 22055184
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with ASCC3: view
genes like me logo Genes that share phenotypes with ASCC3: view

Animal Models for ASCC3 Gene

MGI Knock Outs for ASCC3:

Animal Model Products

Clone Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ASCC3 Gene

Localization for ASCC3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ASCC3 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 ASCC3 gene
Compartment Confidence
nucleus 5
cytosol 5
mitochondrion 2
golgi apparatus 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Golgi apparatus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ASCC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IDA --
GO:0005634 nucleus TAS 22055184
GO:0005654 nucleoplasm TAS --
GO:0005829 cytosol IDA --
GO:0016020 membrane IDA,HDA 19946888
genes like me logo Genes that share ontologies with ASCC3: view

Pathways & Interactions for ASCC3 Gene

genes like me logo Genes that share pathways with ASCC3: view

Gene Ontology (GO) - Biological Process for ASCC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006281 DNA repair IEA --
GO:0006307 DNA dealkylation involved in DNA repair TAS,IDA --
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006974 cellular response to DNA damage stimulus IEA --
genes like me logo Genes that share ontologies with ASCC3: view

No data available for SIGNOR curated interactions for ASCC3 Gene

Drugs & Compounds for ASCC3 Gene

(3) Drugs for ASCC3 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
Water Approved Pharma 0
ATP Investigational Nutra Agonist 0

(1) Additional Compounds for ASCC3 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
genes like me logo Genes that share compounds with ASCC3: view

Transcripts for ASCC3 Gene

Unigene Clusters for ASCC3 Gene

Activating signal cointegrator 1 complex subunit 3:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ASCC3 Gene

No ASD Table

Relevant External Links for ASCC3 Gene

GeneLoc Exon Structure for
ASCC3
ECgene alternative splicing isoforms for
ASCC3

Expression for ASCC3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ASCC3 Gene

Protein differential expression in normal tissues from HIPED for ASCC3 Gene

This gene is overexpressed in Lung (12.5), Brain (10.9), and Peripheral blood mononuclear cells (9.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ASCC3 Gene



Protein tissue co-expression partners for ASCC3 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ASCC3 Gene:

ASCC3

SOURCE GeneReport for Unigene cluster for ASCC3 Gene:

Hs.486031

mRNA Expression by UniProt/SwissProt for ASCC3 Gene:

Q8N3C0-ASCC3_HUMAN
Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for ASCC3 Gene

  • Liver(4.3)
  • Skin(4.3)
genes like me logo Genes that share expression patterns with ASCC3: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for ASCC3 Gene

Orthologs for ASCC3 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ASCC3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ASCC3 33 34
  • 99.73 (n)
dog
(Canis familiaris)
Mammalia ASCC3 33 34
  • 92.29 (n)
cow
(Bos Taurus)
Mammalia ASCC3 33 34
  • 91.7 (n)
mouse
(Mus musculus)
Mammalia Ascc3 33 16 34
  • 88.54 (n)
rat
(Rattus norvegicus)
Mammalia Ascc3 33
  • 88.02 (n)
oppossum
(Monodelphis domestica)
Mammalia ASCC3 34
  • 87 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ASCC3 34
  • 85 (a)
OneToOne
chicken
(Gallus gallus)
Aves ASCC3 33 34
  • 79.96 (n)
lizard
(Anolis carolinensis)
Reptilia ASCC3 34
  • 82 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii ASCC3 34
  • 84 (a)
OneToMany
ASCC3 (3 of 3) 34
  • 83 (a)
OneToMany
ascc3 33
  • 70.56 (n)
ASCC3 (2 of 3) 34
  • 43 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG5205 33 34
  • 55.54 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001234 33
  • 53.68 (n)
worm
(Caenorhabditis elegans)
Secernentea CELE_Y54E2A.4 33
  • 52.53 (n)
Y54E2A.4 34
  • 46 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SLH1 33
  • 55.11 (n)
BRR2 34
  • 32 (a)
OneToMany
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A09889g 33
  • 54.35 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ABR142W 33
  • 54.02 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G61140 33
  • 55.83 (n)
rice
(Oryza sativa)
Liliopsida Os03g0213400 33
  • 55.84 (n)
Os.26874 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2602 34
  • 61 (a)
OneToOne
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes mug81 33
  • 55.13 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU08267 33
  • 52.33 (n)
Species where no ortholog for ASCC3 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for ASCC3 Gene

ENSEMBL:
Gene Tree for ASCC3 (if available)
TreeFam:
Gene Tree for ASCC3 (if available)

Paralogs for ASCC3 Gene

Paralogs for ASCC3 Gene

(2) SIMAP similar genes for ASCC3 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with ASCC3: view

Variants for ASCC3 Gene

Sequence variations from dbSNP and Humsavar for ASCC3 Gene

SNP ID Clin Chr 06 pos Variation AA Info Type
rs145890655 uncertain-significance, not specified 100,767,144(-) C/A genic_downstream_transcript_variant, splice_donor_variant
rs759097017 uncertain-significance, not specified 100,647,270(-) TTTTTTT/TTTTTT/TTTTTTTT coding_sequence_variant, frameshift, genic_downstream_transcript_variant
rs763683817 uncertain-significance, not specified 100,512,904(-) T/A/G coding_sequence_variant, genic_downstream_transcript_variant, missense_variant
rs11345864 benign, not specified 100,767,348(-) AAAAAAAAAA/AAAAAAAA/AAAAAAAAA genic_downstream_transcript_variant, intron_variant
rs1000003555 -- 100,659,498(-) T/C genic_downstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for ASCC3 Gene

Variant ID Type Subtype PubMed ID
nsv981170 CNV duplication 23825009
nsv969431 CNV duplication 23825009
nsv604275 CNV loss 21841781
nsv604269 CNV loss 21841781
nsv604268 CNV loss 21841781
nsv521897 CNV loss 19592680
nsv510044 OTHER sequence alteration 20534489
nsv474539 CNV novel sequence insertion 20440878
nsv470848 CNV loss 18288195
nsv463990 CNV loss 19166990
nsv463989 CNV loss 19166990
nsv1111320 CNV tandem duplication 24896259
nsv1028122 CNV gain 25217958
nsv1027288 CNV loss 25217958
nsv1024526 CNV loss 25217958
esv3890916 CNV loss 25118596
esv3610149 CNV gain 21293372
esv3610148 CNV gain 21293372
esv3610145 CNV loss 21293372
esv3610144 CNV loss 21293372
esv3576204 CNV gain 25503493
esv3571321 CNV loss 25503493
esv3336227 CNV insertion 20981092
esv3309174 CNV mobile element insertion 20981092
esv3302595 CNV tandem duplication 20981092
esv28841 CNV gain 19812545
esv2763587 CNV loss 21179565
esv2732486 CNV deletion 23290073
esv1269345 CNV insertion 17803354
esv1007226 CNV insertion 20482838
dgv6113n100 CNV loss 25217958
dgv3597e59 CNV duplication 20981092
dgv10865n54 CNV loss 21841781
dgv10864n54 CNV loss 21841781
dgv10863n54 CNV loss 21841781
dgv10862n54 CNV loss 21841781

Variation tolerance for ASCC3 Gene

Residual Variation Intolerance Score: 0.837% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 15.26; 97.02% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ASCC3 Gene

Human Gene Mutation Database (HGMD)
ASCC3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ASCC3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ASCC3 Gene

Disorders for ASCC3 Gene

Additional Disease Information for ASCC3

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for ASCC3 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ASCC3 Gene

Publications for ASCC3 Gene

  1. DNA unwinding by ASCC3 helicase is coupled to ALKBH3-dependent DNA alkylation repair and cancer cell proliferation. (PMID: 22055184) Dango S … Shi Y (Molecular cell 2011) 3 4 58
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  3. A Large-scale genetic association study of esophageal adenocarcinoma risk. (PMID: 20453000) Liu CY … Christiani DC (Carcinogenesis 2010) 3 44 58
  4. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 44 58
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58

Products for ASCC3 Gene

Sources for ASCC3 Gene

Content
Loading form....