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

Gene ID: 10973, updated on 11-Apr-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
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (100508194..100881329, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (101681937..102055217, complement)
105.20220307 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
  • 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. 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
  2. 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
  3. 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
  4. Antitumor immunity at work in a melanoma patient. Coulie PG, et al. Adv Cancer Res, 1999. PMID 10218103
  5. ALKBH3 partner ASCC3 mediates P-body formation and selective clearance of MMS-induced 1-methyladenosine and 3-methylcytosine from mRNA. Wollen KL, et al. J Transl Med, 2021 Jul 3. PMID 34217309, Free PMC Article

See all (113) 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: CN376308 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 cell population proliferation IMP
Inferred from Mutant Phenotype
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_2023_10

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

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