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ASCC3 Gene

protein-coding   GIFtS: 54
GCID: GC06M100956

Activating Signal Cointegrator 1 Complex Subunit 3

(Previous names: helicase, ATP binding 1)
(Previous symbol: HELIC1)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Activating Signal Cointegrator 1 Complex Subunit 31 2     Trip4 Complex Subunit P2002 3
Helicase, ATP Binding 11 2 3     ASC1p2002 3
HELIC11 2 3     RNAH2
RNA Helicase Family1 2     EC 3.6.4.123
ASC-1 Complex Subunit P2002 3     p2005

External Ids:    HGNC: 186971   Entrez Gene: 109732   Ensembl: ENSG000001122497   OMIM: 6142175   UniProtKB: Q8N3C03   

Export aliases for ASCC3 gene to outside databases

Previous GC identifers: GC06M101063 GC06M098395


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. Diseases associated with ASCC3 include brain cancer, and esophagitis. GO annotations related to this gene include ATP-dependent 3'-5' DNA helicase activity and nucleic acid binding. An important paralog of this gene is HELQ.

UniProtKB/Swiss-Prot: ASCC3_HUMAN, Q8N3C0
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

Gene Wiki entry for ASCC3 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000006.12  NT_025741.16  NC_018917.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ASCC3 gene promoter:
         NF-1   NF-1/L   SRF (504 AA)   MEF-2   Olf-1   Lmo2   MEF-2A   POU2F1   POU2F1a   aMEF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidASCC3 promoter sequence
   Search Chromatin IP Primers for ASCC3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ASCC3


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 6q16   Ensembl cytogenetic band:  6q16.3   HGNC cytogenetic band: 6q16

ASCC3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ASCC3 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06M100956:  view genomic region     (about GC identifiers)

Start:
100,956,070 bp from pter      End:
101,329,248 bp from pter
Size:
373,179 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: ASCC3_HUMAN, Q8N3C0 (See protein sequence)
Recommended Name: Activating signal cointegrator 1 complex subunit 3  
Size: 2202 amino acids; 251460 Da
Subunit: Part of TRIP4 complex, that contains ASCC1, ASCC2 and ASCC3. The TRIP4 complex interacts with ALKBH3
Sequence caution: Sequence=AAG45474.1; Type=Frameshift; Positions=2175; Sequence=CAA11679.1; Type=Erroneous
initiation; Note=Translation N-terminally extended; Sequence=CAA11679.1; Type=Frameshift; Positions=2175;
Secondary accessions: E7EW23 O43738 Q4G1A0 Q5VTN2 Q9H1I9 Q9H5A2 Q9NTR0
Alternative splicing: 3 isoforms:  Q8N3C0-1   Q8N3C0-3   Q8N3C0-4   

Explore the universe of human proteins at neXtProt for ASCC3: NX_Q8N3C0

Explore proteomics data for ASCC3 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys236, Lys319, Lys423, Lys860, Lys938, Lys1382, Lys1543
  • Modification sites at PhosphoSitePlus

  • See ASCC3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001271200.1  NP_006819.2  NP_071374.1  

    ENSEMBL proteins: 
     ENSP00000358159   ENSP00000320252   ENSP00000430769   ENSP00000320777   ENSP00000358139  

    ASCC3 Human Recombinant Protein Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 7):
     IPR011545 DNA/RNA_helicase_DEAD/DEAH_N
     IPR014756 Ig_E-set
     IPR004179 Sec63-dom
     IPR027417 P-loop_NTPase
     IPR003593 AAA+_ATPase

    Graphical View of Domain Structure for InterPro Entry Q8N3C0

    ProtoNet protein and cluster: Q8N3C0

    UniProtKB/Swiss-Prot: ASCC3_HUMAN, Q8N3C0
    Similarity: Belongs to the helicase family
    Similarity: Contains 2 helicase ATP-binding domains
    Similarity: Contains 2 helicase C-terminal domains
    Similarity: Contains 2 SEC63 domains


    ASCC3 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ASCC3_HUMAN, Q8N3C0
    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
    Catalytic activity: ATP + H(2)O = ADP + phosphate

         Enzyme Number (IUBMB): EC 3.6.4.121

         Gene Ontology (GO): Selected molecular function terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding ----
    GO:0003676nucleic acid binding ----
    GO:0003677DNA binding ----
    GO:0004386helicase activity ----
    GO:0005515protein binding IPI--
         
    ASCC3 for ontologies           About GeneDecksing


    Phenotypes:
         4 GenomeRNAi human phenotypes for ASCC3:
     G0/1 arrest  Increased G1 DNA content  Increased circadian period len  Synthetic lethal with Ras 

         5 MGI mutant phenotypes (inferred from 1 allele(MGI details for Ascc3):
     behavior/neurological  limbs/digits/tail  other  skeleton  vision/eye 

    ASCC3 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ASCC3
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ASCC3
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ASCC3

    miRNA
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    miRTarBase miRNAs that target ASCC3:
    hsa-mir-16-5p (MIRT031604), hsa-mir-425-5p (MIRT039333), hsa-mir-1226-3p (MIRT036492), hsa-let-7b-5p (MIRT032308), hsa-let-7a-5p (MIRT052581), hsa-mir-124-3p (MIRT022461), hsa-mir-98-5p (MIRT027593), hsa-let-7f-5p (MIRT051396), hsa-mir-30a-5p (MIRT028510)

    Block miRNA regulation of human, mouse, rat ASCC3 using miScript Target Protectors
    7 qRT-PCR Assays for microRNAs that regulate ASCC3:
    hsa-miR-30c hsa-miR-30a hsa-miR-136* hsa-miR-196a* hsa-miR-30b hsa-miR-30d hsa-miR-30e
    SwitchGear 3'UTR luciferase reporter plasmidASCC3 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat ASCC3

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector (see all 2): ASCC3 (NM_006828)
    Sino Biological Human cDNA Clone for ASCC3
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ASCC3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ASCC3

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ASCC3


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    ASCC3_HUMAN, Q8N3C0: Nucleus. Cytoplasm
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol3
    golgi apparatus3
    plasma membrane3
    mitochondrion2
    chloroplast1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular IDA--
    GO:0005634nucleus TAS--
    GO:0005737cytoplasm IDA--
    GO:0005794Golgi apparatus IDA--

    ASCC3 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ASCC3
    Interactions:

        Search GeneGlobe Interaction Network for ASCC3

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for ASCC3 (Q8N3C02, 3 ENSP000003202524) via UniProtKB, MINT, STRING, and/or I2D (see all 148)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SKILP127572, 3MINT-61658 I2D: score=3 
    ENSG00000206353Q154773, ENSP000003728274I2D: score=1 STRING: ENSP00000372827
    ENSG00000223493Q154773, ENSP000004123104I2D: score=1 STRING: ENSP00000412310
    ENSG00000225737Q154773, ENSP000003944004I2D: score=1 STRING: ENSP00000394400
    SKIV2LQ154773, ENSP000003645434I2D: score=1 STRING: ENSP00000364543
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006307DNA dealkylation involved in DNA repair IDA--
    GO:0006351transcription, DNA-templated IEA--
    GO:0006355regulation of transcription, DNA-templated IEA--
    GO:0008283cell proliferation IMP--
    GO:0032508DNA duplex unwinding IDA--

    ASCC3 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for ASCC3



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for ASCC3 gene (3 alternative transcripts): 
    NM_001284271.1  NM_006828.3  NM_022091.4  

    Unigene Cluster for ASCC3:

    Activating signal cointegrator 1 complex subunit 3
    Hs.486031  [show with all ESTs]
    Unigene Representative Sequence: NM_006828
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000369162(uc003pqk.3 uc011eai.1) ENST00000518006 ENST00000324696
    ENST00000522650(uc003pql.3) ENST00000468245(uc010kcv.3) ENST00000324723
    ENST00000369143(uc003pqm.3)
    miRNA
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    Block miRNA regulation of human, mouse, rat ASCC3 using miScript Target Protectors
    7 qRT-PCR Assays for microRNAs that regulate ASCC3:
    hsa-miR-30c hsa-miR-30a hsa-miR-136* hsa-miR-196a* hsa-miR-30b hsa-miR-30d hsa-miR-30e
    SwitchGear 3'UTR luciferase reporter plasmidASCC3 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for ASCC3
    Predesigned siRNA for gene silencing in human, mouse, rat ASCC3
    Clone
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    OriGene ORF clones in mouse, rat for ASCC3
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): ASCC3 (NM_006828)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ASCC3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ASCC3
    Primer
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    OriGene qPCR primer pairs and template standards for ASCC3
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      QuantiTect SYBR Green Assays in human, mouse, rat ASCC3
      QuantiFast Probe-based Assays in human, mouse, rat ASCC3

    Additional mRNA sequence: 

    AJ223948.1 AK023189.1 AK299117.1 AK307903.1 AK315197.1 AL834463.1 AY013288.1 BC014358.1 
    BC026066.1 BC039857.1 BC050681.1 BC125211.1 BC125212.1 BC130038.1 CR936692.1 

    9 DOTS entries:

    DT.442902  DT.75101017  DT.100644004  DT.100784229  DT.100784230  DT.121333145  DT.92060157  DT.99927233 
    DT.121333097 

    Selected AceView cDNA sequences (see all 167):

    BU688613 AA749406 BQ023090 BF593403 BQ023443 CB161009 BQ436047 BF431792 
    BF062402 BP335462 CB161288 NM_022091 AA989030 CK906074 BG941712 N58930 
    AI206286 AY013288 BQ720311 BU682647 BC050681 AA551688 BX415630 AA632279 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    ASCC3 expression in normal human tissues (normalized intensities)      ASCC3 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTTAACTGGG
    ASCC3 Expression
    About this image


    ASCC3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Ovary (Reproductive System)
             Oviduct
     
     Pancreas (Endocrine System)
             Islets of Langerhans
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
    ASCC3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ASCC3 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.486031

    UniProtKB/Swiss-Prot: ASCC3_HUMAN, Q8N3C0
    Tissue specificity: Ubiquitous

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ASCC3

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for ASCC3 gene from Selected species (see all 22)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ascc31 , 5 activating signal cointegrator 1 complex subunit 31, 5 88.54(n)1
    92.35(a)1
      10 (24.87 cM)5
    779871  NM_198007.21  NP_932124.21 
     505926695 
    chicken
    (Gallus gallus)
    Aves ASCC31 activating signal cointegrator 1 complex subunit 3 79.96(n)
    83.46(a)
      421790  XM_419816.4  XP_419816.1 
    lizard
    (Anolis carolinensis)
    Reptilia ASCC36
    activating signal cointegrator 1 complex subunit 3...
    82(a)
    1 ↔ 1
    1(170788060-171143205)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia 1420336552   -- 77.56(n)    142033655 
    zebrafish
    (Danio rerio)
    Actinopterygii ascc31 activating signal cointegrator 1 complex subunit 3 70.56(n)
    80.76(a)
      100332599  XM_002664026.3  XP_002664072.3 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG52051 CG5205 55.54(n)
    55.35(a)
      41891  NM_142215.3  NP_650472.2 
    worm
    (Caenorhabditis elegans)
    Secernentea CELE_Y54E2A.41 CELE_Y54E2A.4 52.53(n)
    48.56(a)
      190256  NM_064659.2  NP_497060.2 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes SLH11 SLH1 55.11(n)
    49.34(a)
      853187   NP_011787.4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT5G611401 AT5G61140 55.83(n)
    54.25(a)
      836235  NM_001203655.1  NP_001190584.1 
    rice
    (Oryza sativa)
    Liliopsida Os.268742 Oryza sativa (japonica cultivar-group) cDNA cloneJ more 73.57(n)    AK099757.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ASCC3 gene
    HELQ2  SNRNP2002  POLN2  POLQ2  
    2 SIMAP similar genes for ASCC3 using alignment to 3 protein entries:     ASCC3_HUMAN (see all proteins):
    ASCC3L1    SNRNP200

    ASCC3 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for ASCC3 (see all 7025)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1170098291,2
    C,F--100956139(+) TCAGAA/CACACT 1 -- int11Minor allele frequency- C:0.01NA 120
    rs10584621,2
    C,F--100956323(-) CAAACA/GAATTC 1 -- int13Minor allele frequency- G:0.10MN NA EA 424
    rs1477832731,2
    C--100956818(+) CTGTG-/TACC  
            
    TACCA
    1 -- ut310--------
    rs1862603141,2
    --100956833(+) ACAGAG/TTTATA 1 -- ut310--------
    rs1440903691,2
    --100956984(+) TCATCC/TCAAAT 1 -- ut310--------
    rs1916078571,2
    --100957021(+) ATGCTC/TTTTCA 1 -- ut310--------
    rs790289351,2
    C,F--100957211(+) TGACTG/CAACAG 1 -- ut311Minor allele frequency- C:0.06WA 118
    rs2005353431,2
    C--100957271(+) TTTAAC/TGCCAG 2 A syn10--------
    rs2017896961,2
    --100957312(+) GACCTA/GTGCAG 2 Q * stg10--------
    rs2407681,2,,4
    C,F,O,A,H--100957344(+) TGAGAT/CAGATG 2 /Y /C mis1112Minor allele frequency- C:0.12MN NS EA NA PA EU CA WA CSA 14465

    HapMap Linkage Disequilibrium report for ASCC3 (100956070 - 101206070 bp, first 250kb of ASCC3)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for ASCC3 (see all 18):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2732486CNV Deletion23290073
    esv1007226CNV Insertion20482838
    esv1269345CNV Insertion17803354
    esv273447CNV Insertion20981092
    nsv470848CNV Loss18288195
    dgv6955n71CNV Loss21882294
    dgv6953n71CNV Loss21882294
    dgv6956n71CNV Loss21882294
    nsv521897CNV Loss19592680
    nsv463990CNV Loss19166990

    Human Gene Mutation Database (HGMD): ASCC3
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ASCC3
    DNA2.0 Custom Variant and Variant Library Synthesis for ASCC3

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 614217    OMIM disorders: --

    13 diseases for ASCC3:    About MalaCards
    brain cancer    esophagitis    atherosclerosis    tuberculosis
    tonsillitis    adenocarcinoma    melanoma    colorectal cancer
    thyroiditis    cerebritis    malaria    endotheliitis
    prostatitis


    ASCC3 for disorders           About GeneDecksing

    Genetic Association Database (GAD): ASCC3
    Human Genome Epidemiology (HuGE) Navigator: ASCC3 (7 documents)

    Export disorders for ASCC3 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for ASCC3 gene, integrated from 10 sources (see all 45):
    (articles sorted by number of sources associating them with ASCC3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. DNA unwinding by ASCC3 helicase is coupled to ALKBH3-dependent DNA alkylation repair and cancer cell proliferation. (PubMed id 22055184)1, 2 Dango S.... Shi Y. (Mol. Cell 2011)
    2. A Large-scale genetic association study of esophageal adenocarcinoma risk. (PubMed id 20453000)1, 4 Liu C.Y....Christiani D.C. (Carcinogenesis 2010)
    3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    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. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    6. Novel transcription coactivator complex containing activating signal cointegrator 1. (PubMed id 12077347)1, 2 Jung D.-J.... Lee Y.C. (Mol. Cell. Biol. 2002)
    7. Antitumor immunity at work in a melanoma patient. (PubMed id 10218103)1, 3 Coulie P.G....Chiari R. (Adv. Cancer Res. 1999)
    8. The SOX2-interactome in brain cancer cells identifies the requirement of MSI2 and USP9X for the growth of brain tumor cells. (PubMed id 23667531)1 Cox J.L....Rizzino A. (PLoS ONE 2013)
    9. A short hairpin RNA screen of interferon-stimulated genes identifies a novel negative regulator of the cellular antiviral response. (PubMed id 23781071)1 Li J....Diamond M.S. (MBio 2013)
    10. The HECT type ubiquitin ligase NEDL2 is degraded by anaphase-promoting complex/cyclosome (APC/C)-Cdh1, and its tight regulation maintains the metaphase to anaphase transition. (PubMed id 24163370)1 Lu L....Zhang L. (J. Biol. Chem. 2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 10973 HGNC: 18697 AceView: ASCC3 Ensembl:ENSG00000112249 euGenes: HUgn10973
    ECgene: ASCC3 H-InvDB: ASCC3

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for ASCC3 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for ASCC3 gene:
    Search GeneIP for patents involving ASCC3

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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