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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 DNA Double-Strand Break Repair. 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 ALKHB3, enabling ALKHB3 to process alkylated N3-methylcytosine (3mC) within double-stranded regions. Enhances NF-kappa-B, SRF and AP1 transactivation.

Gene Wiki entry for ASCC3 Gene

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

Genomics for ASCC3 Gene

Regulatory Elements for ASCC3 Gene

Enhancers for ASCC3 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around ASCC3 on UCSC Golden Path with GeneCards custom track

Promoters for ASCC3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ASCC3 on UCSC Golden Path with GeneCards custom track

Genomic Location for ASCC3 Gene

Chromosome:
6
Start:
100,508,194 bp from pter
End:
100,881,372 bp from pter
Size:
373,179 bases
Orientation:
Minus strand

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 TRIP4 complex, that contains ASCC1, ASCC2 and ASCC3. The TRIP4 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

Proteomics data for ASCC3 Gene at MOPED

Post-translational modifications for ASCC3 Gene

  • Ubiquitination at Lys 236, Lys 319, Lys 423, Lys 860, Lys 938, Lys 1382, and Lys 1543
  • Modification sites at PhosphoSitePlus

Other Protein References for ASCC3 Gene

No data available for DME Specific Peptides for ASCC3 Gene

Domains & Families for ASCC3 Gene

Gene Families for ASCC3 Gene

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 :
  • Contains 2 helicase ATP-binding domains.
  • Belongs to the helicase family.
Domain:
  • Contains 2 helicase ATP-binding domains.
  • Contains 2 helicase C-terminal domains.
  • Contains 2 SEC63 domains.
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 ALKHB3, enabling ALKHB3 to process alkylated N3-methylcytosine (3mC) within double-stranded regions. Enhances NF-kappa-B, SRF and AP1 transactivation.

Enzyme Numbers (IUBMB) for ASCC3 Gene

Gene Ontology (GO) - Molecular Function for ASCC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005524 ATP binding IEA --
GO:0043140 ATP-dependent 3-5 DNA helicase activity IDA 22055184
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

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

Nucleus. Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ASCC3 Gene COMPARTMENTS Subcellular localization image for ASCC3 gene
Compartment Confidence
golgi apparatus 5
nucleus 5
cytosol 4
mitochondrion 2

Gene Ontology (GO) - Cellular Components for ASCC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IDA --
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:0006307 DNA dealkylation involved in DNA repair TAS --
GO:0006355 regulation of transcription, DNA-templated 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

(1) Drugs for ASCC3 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine triphosphate Approved Nutra 0

(3) 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
phosphoric acid
  • Acide phosphorique (FRENCH)
  • Acido fosforico [Italian]
  • Acidum phosphoricum
  • Diphosphate tetrasodium
  • Fosforzuuroplossingen [Dutch]
7664-38-2
Water
  • Dihydrogen oxide
  • Steam
7732-18-5
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:

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 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, MOPED, and MaxQB for ASCC3 Gene



SOURCE GeneReport for Unigene cluster for ASCC3 Gene Hs.486031

mRNA Expression by UniProt/SwissProt for ASCC3 Gene

Q8N3C0-ASCC3_HUMAN
Tissue specificity: Ubiquitous.
genes like me logo Genes that share expression patterns with ASCC3: view

Protein tissue co-expression partners for ASCC3 Gene

- Elite partner

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 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
cow
(Bos Taurus)
Mammalia ASCC3 35
  • 91.7 (n)
  • 91.82 (a)
ASCC3 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ASCC3 35
  • 92.29 (n)
  • 92.37 (a)
ASCC3 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ascc3 35
  • 88.54 (n)
  • 92.35 (a)
Ascc3 16
Ascc3 36
  • 92 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ASCC3 35
  • 99.73 (n)
  • 99.68 (a)
ASCC3 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ascc3 35
  • 88.02 (n)
  • 92.68 (a)
oppossum
(Monodelphis domestica)
Mammalia ASCC3 36
  • 87 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ASCC3 36
  • 85 (a)
OneToOne
chicken
(Gallus gallus)
Aves ASCC3 35
  • 79.96 (n)
  • 83.46 (a)
ASCC3 36
  • 83 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ASCC3 36
  • 82 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii ascc3 35
  • 70.56 (n)
  • 80.76 (a)
ASCC3 36
  • 84 (a)
OneToMany
ASCC3 (2 of 3) 36
  • 43 (a)
OneToMany
ASCC3 (3 of 3) 36
  • 83 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001234 35
  • 53.68 (n)
  • 54.9 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG5205 35
  • 55.54 (n)
  • 55.35 (a)
CG5205 36
  • 50 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea CELE_Y54E2A.4 35
  • 52.53 (n)
  • 48.56 (a)
Y54E2A.4 36
  • 46 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ABR142W 35
  • 54.02 (n)
  • 50.99 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A09889g 35
  • 54.35 (n)
  • 48.91 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SLH1 35
  • 55.11 (n)
  • 49.34 (a)
BRR2 36
  • 32 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G61140 35
  • 55.83 (n)
  • 54.25 (a)
rice
(Oryza sativa)
Liliopsida Os.26874 35
Os03g0213400 35
  • 55.84 (n)
  • 53.27 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU08267 35
  • 52.33 (n)
  • 50.98 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes mug81 35
  • 55.13 (n)
  • 49.33 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2602 36
  • 61 (a)
OneToOne
Species with no ortholog for ASCC3:
  • 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 Sequence Context AA Info Type
rs9390698 - 100,848,513(+) AGTAA(A/G)ATCAT reference, missense
rs9497983 - 100,650,642(+) CTCTA(C/T)ACCTC reference, missense
rs35011147 - 100,589,963(-) TACTG(G/T)ATTGA reference, missense
rs3213542 - 100,518,130(+) AGCCA(C/T)GTCCA reference, missense
rs240780 - 100,516,271(+) GAAGG(C/G)ACTCG reference, missense

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

Variant ID Type Subtype PubMed ID
nsv886444 CNV Loss 21882294
dgv6953n71 CNV Loss 21882294
dgv6954n71 CNV Loss 21882294
dgv6955n71 CNV Loss 21882294
dgv6956n71 CNV Loss 21882294
nsv470848 CNV Loss 18288195
nsv463989 CNV Loss 19166990
nsv886454 CNV Loss 21882294
esv1269345 CNV Insertion 17803354
nsv463990 CNV Loss 19166990
nsv521897 CNV Loss 19592680
nsv886457 CNV Loss 21882294
esv1007226 CNV Insertion 20482838
esv28841 CNV Gain 19812545
esv259569 OTHER Complex 20981092
esv273447 CNV Insertion 20981092
esv2732486 CNV Deletion 23290073
nsv510044 CNV Loss 20534489

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)

Relevant External Links for ASCC3 Gene

Human Gene Mutation Database (HGMD)
ASCC3

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

Disorders for ASCC3 Gene

Relevant External Links for ASCC3

Genetic Association Database (GAD)
ASCC3
Human Genome Epidemiology (HuGE) Navigator
ASCC3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ASCC3

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. (Mol. Cell 2011) 3 4 67
  2. Antitumor immunity at work in a melanoma patient. (PMID: 10218103) Coulie P.G. … Chiari R. (Adv. Cancer Res. 1999) 2 3
  3. Interactions of the Antiviral Factor Interferon Gamma-Inducible Protein 16 (IFI16) Mediate Immune Signaling and Herpes Simplex Virus-1 Immunosuppression. (PMID: 25693804) Diner B.A. … Cristea I.M. (Mol. Cell Proteomics 2015) 3
  4. Temporal proteomics of NGF-TrkA signaling identifies an inhibitory role for the E3 ligase Cbl-b in neuroblastoma cell differentiation. (PMID: 25921289) Emdal K.B. … Olsen J.V. (Sci Signal 2015) 3
  5. Noncanonical regulation of alkylation damage resistance by the OTUD4 deubiquitinase. (PMID: 25944111) Zhao Y. … Mosammaparast N. (EMBO J. 2015) 3

Products for ASCC3 Gene

Sources for ASCC3 Gene

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