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

Summary

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

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_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
ASCC3 Gene Polymorphism was associated with Chronic Hepatitis B.
Title: Correlations between ASCC3 Gene Polymorphisms and Chronic Hepatitis B in a Chinese Han Population.
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.
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.
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.
Observational study of gene-disease association. (HuGE Navigator)
Title: A Large-scale genetic association study of esophageal adenocarcinoma risk.
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.

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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 EBI GWAS CatalogPubMed
The genetic architecture of economic and political preferences. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D6S1153E (e-PCR)
- UniSTS:28703

D6S1409 (e-PCR)
- UniSTS:1837

RH122927 (e-PCR)
- UniSTS:135224

MARC_21686-21687:1044297767:1 (e-PCR)
- UniSTS:268607

ksks1 (e-PCR)
- UniSTS:514120

G62986 (e-PCR)
- UniSTS:140111

MARC_10283-10284:998926151:3 (e-PCR)
- UniSTS:267096

G63020 (e-PCR)
- UniSTS:140145

SGC38363 (e-PCR)
- UniSTS:81783

RH65182 (e-PCR)
- UniSTS:80794

AFM176xg9 (e-PCR)
- UniSTS:44700

SHGC-106043 (e-PCR)
- UniSTS:169638

RH67970 (e-PCR)
- UniSTS:12773

RH122848 (e-PCR)
- UniSTS:135146

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 ATP-dependent H2AZ histone chaperone activity	IEA Inferred from Electronic Annotation more info
enables ATP-dependent H3-H4 histone complex chaperone activity	IEA Inferred from Electronic Annotation more info
enables DNA clamp loader activity	IEA Inferred from Electronic Annotation more info
enables RNA binding	HDA more info	PubMed
enables chromatin extrusion motor activity	IEA Inferred from Electronic Annotation more info
enables cohesin loader activity	IEA Inferred from Electronic Annotation more info
enables double-stranded DNA helicase activity	IEA Inferred from Electronic Annotation more info
enables forked DNA-dependent helicase activity	IEA Inferred from Electronic Annotation more info
enables four-way junction helicase activity	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables single-stranded 3'-5' DNA helicase activity	IEA Inferred from Electronic Annotation more info

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 chromatin looping	IEA Inferred from Electronic Annotation more info
involved_in chromatin remodeling	IEA Inferred from Electronic Annotation more info
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 more info	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

EC 3.6.4.12

NP_006819.2

EC 3.6.4.12

NP_071374.1

EC 3.6.4.12

XP_011533696.1

EC 3.6.4.12

XP_047274063.1

EC 3.6.4.12

XP_047274064.1

EC 3.6.4.12

XP_047274065.1

EC 3.6.4.12

XP_054210062.1

EC 3.6.4.12

XP_054210063.1

EC 3.6.4.12

XP_054210064.1

EC 3.6.4.12

XP_054210065.1

EC 3.6.4.12

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)

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
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
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

NC_000006.12 Reference GRCh38.p14 Primary Assembly

Range

100508194..100881329 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
XM_047418108.1 → XP_047274064.1 activating signal cointegrator 1 complex subunit 3 isoform X2
XM_047418107.1 → XP_047274063.1 activating signal cointegrator 1 complex subunit 3 isoform X2
XM_047418109.1 → XP_047274065.1 activating signal cointegrator 1 complex subunit 3 isoform X3

Alternate T2T-CHM13v2.0

Genomic

NC_060930.1 Alternate T2T-CHM13v2.0

Range

101681937..102055217 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054354087.1 → XP_054210062.1 activating signal cointegrator 1 complex subunit 3 isoform X1
XM_054354089.1 → XP_054210064.1 activating signal cointegrator 1 complex subunit 3 isoform X2
XM_054354088.1 → XP_054210063.1 activating signal cointegrator 1 complex subunit 3 isoform X2
XM_054354090.1 → XP_054210065.1 activating signal cointegrator 1 complex subunit 3 isoform X3