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    ASCC3 activating signal cointegrator 1 complex subunit 3 [ Homo sapiens (human) ]

    Gene ID: 10973, updated on 3-Nov-2024

    Summary

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    Official Symbol
    ASCC3provided by HGNC
    Official Full Name
    activating signal cointegrator 1 complex subunit 3provided by HGNC
    Primary source
    HGNC:HGNC:18697
    See related
    Ensembl:ENSG00000112249 MIM:614217; AllianceGenome:HGNC:18697
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    RNAH; MRT81; HELIC1; ASC1p200
    Summary
    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]
    Expression
    Ubiquitous expression in urinary bladder (RPKM 5.0), colon (RPKM 4.9) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ASCC3 in Genome Data Viewer
    Location:
    6q16.3
    Exon count:
    44
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (100508194..100881329, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (101681937..102055217, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (100956070..101329205, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene arginase 2 pseudogene Neighboring gene VISTA enhancer hs576 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17424 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:100729120-100729639 Neighboring gene Sharpr-MPRA regulatory region 11257 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:100802848-100803481 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr6:100893988-100894670 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:100895353-100896034 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:100896035-100896716 Neighboring gene SIM1 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:100902959-100903520 Neighboring gene VISTA enhancer hs2319 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:100905055-100906036 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:100915529-100916120 Neighboring gene Sharpr-MPRA regulatory region 3240 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24866 Neighboring gene SIM bHLH transcription factor 1 Neighboring gene defective in cullin neddylation 1 domain containing 1 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24867 Neighboring gene uncharacterized LOC107984041 Neighboring gene mitogen-activated protein kinase 1 interacting protein 1 like pseudogene Neighboring gene NANOG hESC enhancer GRCh37_chr6:101399783-101400303 Neighboring gene small nucleolar RNA U13

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Antitumor immunity at work in a melanoma patient. Coulie PG, et al. Adv Cancer Res, 1999. PMID 10218103
    2. A short hairpin RNA screen of interferon-stimulated genes identifies a novel negative regulator of the cellular antiviral response. Li J, et al. mBio, 2013 Jun 18. PMID 23781071, Free PMC Article
    3. UV Irradiation Induces a Non-coding RNA that Functionally Opposes the Protein Encoded by the Same Gene. Williamson L, et al. Cell, 2017 Feb 23. PMID 28215706, Free PMC Article
    4. Correlations between ASCC3 Gene Polymorphisms and Chronic Hepatitis B in a Chinese Han Population. Liu L, et al. PLoS One, 2015. PMID 26536629, Free PMC Article
    5. The interaction of DNA repair factors ASCC2 and ASCC3 is affected by somatic cancer mutations. Jia J, et al. Nat Commun, 2020 Nov 2. PMID 33139697, Free PMC Article

    See all (131) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. ASCC3 promotes the immunosuppression and progression of non-small cell lung cancer by impairing the type I interferon response via CAND1-mediated ubiquitination inhibition of STAT3.
      Title: ASCC3 promotes the immunosuppression and progression of non-small cell lung cancer by impairing the type I interferon response via CAND1-mediated ubiquitination inhibition of STAT3.
    2. ALKBH3 partner ASCC3 mediates P-body formation and selective clearance of MMS-induced 1-methyladenosine and 3-methylcytosine from mRNA.
      Title: ALKBH3 partner ASCC3 mediates P-body formation and selective clearance of MMS-induced 1-methyladenosine and 3-methylcytosine from mRNA.
    3. The interaction of DNA repair factors ASCC2 and ASCC3 is affected by somatic cancer mutations.
      Title: The interaction of DNA repair factors ASCC2 and ASCC3 is affected by somatic cancer mutations.
    4. UV exposure results in spatial restriction of transcription and slower elongation, with the result that only the promoter-proximal 20-25 kb are efficiently transcribed; these events underlie a switch to expression of short mRNA isoforms and preferential use of alternative last exons in a number of genes, including ASCC3.
      Title: UV Irradiation Induces a Non-coding RNA that Functionally Opposes the Protein Encoded by the Same Gene.
    5. ASCC3 Gene Polymorphism was associated with Chronic Hepatitis B.
      Title: Correlations between ASCC3 Gene Polymorphisms and Chronic Hepatitis B in a Chinese Han Population.
    6. Silencing of ASCC3 resulted in upregulation of multiple antiviral interferon-stimulated genes, which correlated with inhibition of infection of several positive-strand RNA viruses.
      Title: A short hairpin RNA screen of interferon-stimulated genes identifies a novel negative regulator of the cellular antiviral response.
    7. DNA unwinding by ASCC3 helicase is coupled to ALKBH3-dependent DNA alkylation repair and cancer cell proliferation.
      Title: DNA unwinding by ASCC3 helicase is coupled to ALKBH3-dependent DNA alkylation repair and cancer cell proliferation.
    8. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    9. Observational study of gene-disease association. (HuGE Navigator)
      Title: A Large-scale genetic association study of esophageal adenocarcinoma risk.
    10. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Intellectual developmental disorder, autosomal recessive 81
    MedGen: C5882758 OMIM: 620700 GeneReviews: Not available
    		not available

    EBI GWAS Catalog

    Description
    Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
    EBI GWAS Catalog
    The genetic architecture of economic and political preferences.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC26074

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 3'-5' DNA helicase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables 3'-5' DNA helicase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables ATP hydrolysis activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables RNA binding HDA PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in DNA alkylation repair IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in DNA alkylation repair NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in DNA duplex unwinding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in DNA duplex unwinding NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in rescue of stalled ribosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in rescue of stalled ribosome IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in ribosome disassembly IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in ribosome disassembly NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in ribosome-associated ubiquitin-dependent protein catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in ribosome-associated ubiquitin-dependent protein catabolic process NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of DNA repair complex IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    part_of activating signal cointegrator 1 complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in cytosolic ribosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in membrane HDA PubMed 
    located_in nuclear speck IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleus TAS
    Traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    activating signal cointegrator 1 complex subunit 3
    Names
    ASC-1 complex subunit P200
    RNA helicase family
    helicase, ATP binding 1
    trip4 complex subunit p200
    NP_001271200.1
    NP_006819.2
    NP_071374.1
    XP_011533696.1
    XP_047274063.1
    XP_047274064.1
    XP_047274065.1
    XP_054210062.1
    XP_054210063.1
    XP_054210064.1
    XP_054210065.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001284271.2 → NP_001271200.1  activating signal cointegrator 1 complex subunit 3 isoform c

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks several exons in the 3' coding region and its 3' terminal exon extends past a splice site that is used in variant 1. This results in a novel 3' coding region and 3' UTR compared to variant 1. The encoded protein (isoform c) has a distinct C-terminus and is shorter than isoform a.
      Source sequence(s)
      AL133338, AL591585, BC026066
      Consensus CDS
      CCDS75497.1
      UniProtKB/Swiss-Prot
      Q8N3C0
      UniProtKB/TrEMBL
      B4DR60
      Related
      ENSP00000430769.1, ENST00000522650.5
      Conserved Domains (1) summary
      cd18020
      Location:476 → 673
      DEXHc_ASCC3_1; N-terminal DEXH-box helicase domain of Activating signal cointegrator 1 complex subunit 3

    2. NM_006828.4 → NP_006819.2  activating signal cointegrator 1 complex subunit 3 isoform a

      See identical proteins and their annotated locations for NP_006819.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
      Source sequence(s)
      AA788717, AK299117, AL121965, AL133338, AL356122, AL834463, BX415629, Z86062
      Consensus CDS
      CCDS5046.1
      UniProtKB/Swiss-Prot
      E7EW23, O43738, Q4G1A0, Q5VTN2, Q8N3C0, Q9H1I9, Q9H5A2, Q9NTR0
      Related
      ENSP00000358159.2, ENST00000369162.7
      Conserved Domains (5) summary
      smart00490
      Location:1614 → 1693
      HELICc; helicase superfamily c-terminal domain
      smart00611
      Location:1809 → 2178
      SEC63; Domain of unknown function in Sec63p, Brr2p and other proteins
      COG1204
      Location:460 → 1239
      BRR2; Replicative superfamily II helicase [Replication, recombination and repair]
      pfam00270
      Location:1328 → 1499
      DEAD; DEAD/DEAH box helicase
      pfam02889
      Location:978 → 1286
      Sec63; Sec63 Brl domain

    3. NM_022091.5 → NP_071374.1  activating signal cointegrator 1 complex subunit 3 isoform b

      See identical proteins and their annotated locations for NP_071374.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks several exons in the 3' coding region and includes an alternate 3' terminal exon compared to variant 1. The encoded protein (isoform b) has a distinct C-terminus and is shorter than isoform a.
      Source sequence(s)
      AK299117, AL133338, BC050681, BC130038, BU686034
      Consensus CDS
      CCDS5047.1
      UniProtKB/Swiss-Prot
      Q8N3C0
      UniProtKB/TrEMBL
      B4DR60
      Related
      ENSP00000358139.2, ENST00000369143.2

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      100508194..100881329 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011535394.4 → XP_011533696.1  activating signal cointegrator 1 complex subunit 3 isoform X1

      Conserved Domains (5) summary
      smart00490
      Location:1619 → 1698
      HELICc; helicase superfamily c-terminal domain
      smart00611
      Location:1814 → 2183
      SEC63; Domain of unknown function in Sec63p, Brr2p and other proteins
      COG1204
      Location:465 → 1244
      BRR2; Replicative superfamily II helicase [Replication, recombination and repair]
      pfam00270
      Location:1333 → 1504
      DEAD; DEAD/DEAH box helicase
      pfam02889
      Location:983 → 1291
      Sec63; Sec63 Brl domain

    2. XM_047418108.1 → XP_047274064.1  activating signal cointegrator 1 complex subunit 3 isoform X2

    3. XM_047418107.1 → XP_047274063.1  activating signal cointegrator 1 complex subunit 3 isoform X2

    4. XM_047418109.1 → XP_047274065.1  activating signal cointegrator 1 complex subunit 3 isoform X3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      101681937..102055217 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054354087.1 → XP_054210062.1  activating signal cointegrator 1 complex subunit 3 isoform X1

    2. XM_054354089.1 → XP_054210064.1  activating signal cointegrator 1 complex subunit 3 isoform X2

    3. XM_054354088.1 → XP_054210063.1  activating signal cointegrator 1 complex subunit 3 isoform X2

    4. XM_054354090.1 → XP_054210065.1  activating signal cointegrator 1 complex subunit 3 isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N3C0.3 GenPept UniProtKB/Swiss-Prot:Q8N3C0

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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