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

Gene ID: 10973, updated on 19-Sep-2021

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
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; 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

See ASCC3 in Genome Data Viewer
Location:
6q16.3
Exon count:
44
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (100508194..100884455, complement)
105.20201022 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 SIM1 antisense RNA 1 Neighboring gene VISTA enhancer hs2319 Neighboring gene SIM bHLH transcription factor 1 Neighboring gene defective in cullin neddylation 1 domain containing 1 pseudogene Neighboring gene uncharacterized LOC107984041 Neighboring gene mitogen-activated protein kinase 1 interacting protein 1 like pseudogene Neighboring gene Sharpr-MPRA regulatory region 1689

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
GeneReviews: Not available
The genetic architecture of economic and political preferences.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
PubMed 
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 IEA
Inferred from Electronic Annotation
more info
 
enables RNA binding HDA PubMed 
enables RNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
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 
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
PubMed 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 
located_in nucleus TAS
Traceable Author Statement
more info
PubMed 

General protein information

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_011533697.1
XP_011533698.1
XP_016865694.1
XP_016865695.1
XP_024302084.1

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_001284271.2NP_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 (2) summary
    smart00487
    Location:469680
    DEXDc; DEAD-like helicases superfamily
    pfam00270
    Location:478656
    DEAD; DEAD/DEAH box helicase
  2. NM_006828.4NP_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
    Q8N3C0
    UniProtKB/TrEMBL
    B4DR60
    Related
    ENSP00000358159.2, ENST00000369162.7
    Conserved Domains (5) summary
    smart00490
    Location:16141693
    HELICc; helicase superfamily c-terminal domain
    smart00611
    Location:18092178
    SEC63; Domain of unknown function in Sec63p, Brr2p and other proteins
    COG1204
    Location:4601239
    BRR2; Replicative superfamily II helicase [Replication, recombination and repair]
    pfam00270
    Location:13281499
    DEAD; DEAD/DEAH box helicase
    pfam02889
    Location:9781286
    Sec63; Sec63 Brl domain
  3. NM_022091.5NP_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: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

    Range
    100508194..100884455 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    Conserved Domains (5) summary
    smart00490
    Location:16191698
    HELICc; helicase superfamily c-terminal domain
    smart00611
    Location:18142183
    SEC63; Domain of unknown function in Sec63p, Brr2p and other proteins
    COG1204
    Location:4651244
    BRR2; Replicative superfamily II helicase [Replication, recombination and repair]
    pfam00270
    Location:13331504
    DEAD; DEAD/DEAH box helicase
    pfam02889
    Location:9831291
    Sec63; Sec63 Brl domain
  2. XM_011535396.3XP_011533698.1  activating signal cointegrator 1 complex subunit 3 isoform X2

    See identical proteins and their annotated locations for XP_011533698.1

    Conserved Domains (5) summary
    smart00490
    Location:15161595
    HELICc; helicase superfamily c-terminal domain
    smart00611
    Location:17112080
    SEC63; Domain of unknown function in Sec63p, Brr2p and other proteins
    COG1204
    Location:3621141
    BRR2; Replicative superfamily II helicase [Replication, recombination and repair]
    pfam00270
    Location:12301401
    DEAD; DEAD/DEAH box helicase
    pfam02889
    Location:8801188
    Sec63; Sec63 Brl domain
  3. XM_017010205.2XP_016865694.1  activating signal cointegrator 1 complex subunit 3 isoform X2

    Conserved Domains (5) summary
    smart00490
    Location:15161595
    HELICc; helicase superfamily c-terminal domain
    smart00611
    Location:17112080
    SEC63; Domain of unknown function in Sec63p, Brr2p and other proteins
    COG1204
    Location:3621141
    BRR2; Replicative superfamily II helicase [Replication, recombination and repair]
    pfam00270
    Location:12301401
    DEAD; DEAD/DEAH box helicase
    pfam02889
    Location:8801188
    Sec63; Sec63 Brl domain
  4. XM_011535395.3XP_011533697.1  activating signal cointegrator 1 complex subunit 3 isoform X2

    See identical proteins and their annotated locations for XP_011533697.1

    Conserved Domains (5) summary
    smart00490
    Location:15161595
    HELICc; helicase superfamily c-terminal domain
    smart00611
    Location:17112080
    SEC63; Domain of unknown function in Sec63p, Brr2p and other proteins
    COG1204
    Location:3621141
    BRR2; Replicative superfamily II helicase [Replication, recombination and repair]
    pfam00270
    Location:12301401
    DEAD; DEAD/DEAH box helicase
    pfam02889
    Location:8801188
    Sec63; Sec63 Brl domain
  5. XM_017010206.2XP_016865695.1  activating signal cointegrator 1 complex subunit 3 isoform X4

  6. XM_024446316.1XP_024302084.1  activating signal cointegrator 1 complex subunit 3 isoform X3

    Conserved Domains (2) summary
    COG1204
    Location:194973
    BRR2; Replicative superfamily II helicase [Replication, recombination and repair]
    cl28231
    Location:10611790
    BRR2; Replicative superfamily II helicase [Replication, recombination and repair]
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