Human Gene ASCC3 (ENST00000369162.7) from GENCODE V44
  Description: Homo sapiens activating signal cointegrator 1 complex subunit 3 (ASCC3), transcript variant 1, mRNA. (from RefSeq NM_006828)
RefSeq Summary (NM_006828): 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].
Gencode Transcript: ENST00000369162.7
Gencode Gene: ENSG00000112249.14
Transcript (Including UTRs)
   Position: hg38 chr6:100,508,194-100,881,329 Size: 373,136 Total Exon Count: 42 Strand: -
Coding Region
   Position: hg38 chr6:100,509,386-100,867,997 Size: 358,612 Coding Exon Count: 41 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr6:100,508,194-100,881,329)mRNA (may differ from genome)Protein (2202 aa)
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-  Comments and Description Text from UniProtKB
  ID: ASCC3_HUMAN
DESCRIPTION: RecName: Full=Activating signal cointegrator 1 complex subunit 3; EC=3.6.4.12; AltName: Full=ASC-1 complex subunit p200; Short=ASC1p200; AltName: Full=Helicase, ATP binding 1; AltName: Full=Trip4 complex subunit p200;
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.
SUBUNIT: Part of TRIP4 complex, that contains ASCC1, ASCC2 and ASCC3. The TRIP4 complex interacts with ALKBH3.
SUBCELLULAR LOCATION: Nucleus. Cytoplasm.
TISSUE SPECIFICITY: Ubiquitous.
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.
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;

-  Primer design for this transcript
 

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Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene
  • D000082 Acetaminophen
  • C111118 2',3,3',4',5-pentachloro-4-hydroxybiphenyl
  • C016403 2,4-dinitrotoluene
  • C477187 5-(4-methylpiperazin-1-yl)-2-(2'-(3,4-dimethoxyphenyl)-5'-benzimidazolyl)benzimidazole
  • D015123 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide
  • D016604 Aflatoxin B1
  • D001564 Benzo(a)pyrene
  • D019327 Copper Sulfate
  • D016572 Cyclosporine
  • D004958 Estradiol
          more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 10.47 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 151.09 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -114.50310-0.369 Picture PostScript Text
3' UTR -231.801192-0.194 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR003593 - AAA+_ATPase
IPR011545 - DNA/RNA_helicase_DEAD/DEAH_N
IPR014001 - Helicase_ATP-bd
IPR001650 - Helicase_C
IPR004179 - Sec63-dom

Pfam Domains:
PF00270 - DEAD/DEAH box helicase
PF00271 - Helicase conserved C-terminal domain
PF02889 - Sec63 Brl domain

ModBase Predicted Comparative 3D Structure on Q8N3C0
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0003676 nucleic acid binding
GO:0003723 RNA binding
GO:0004386 helicase activity
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0016787 hydrolase activity
GO:0043140 ATP-dependent 3'-5' DNA helicase activity

Biological Process:
GO:0006281 DNA repair
GO:0006307 DNA dealkylation involved in DNA repair
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006974 cellular response to DNA damage stimulus
GO:0008283 cell proliferation
GO:0032508 DNA duplex unwinding

Cellular Component:
GO:0005622 intracellular
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005829 cytosol
GO:0016020 membrane
GO:0099053 activating signal cointegrator 1 complex


-  Descriptions from all associated GenBank mRNAs
  AY013288 - Homo sapiens ASC-1 complex subunit P200 mRNA, partial cds.
AL834463 - Homo sapiens mRNA; cDNA DKFZp762E1710 (from clone DKFZp762E1710).
AB587335 - Synthetic construct DNA, clone: pF1KB8595, Homo sapiens ASCC3 gene for activating signal cointegrator 1 complex subunit 3, without stop codon, in Flexi system.
AM393382 - Synthetic construct Homo sapiens clone IMAGE:100001999 for hypothetical protein (ASCC3 gene).
BC150215 - Synthetic construct Homo sapiens clone IMAGE:100001999, MGC:165124 activating signal cointegrator 1 complex subunit 3 (ASCC3) mRNA, encodes complete protein.
AK299117 - Homo sapiens cDNA FLJ56882 partial cds, highly similar to Activating signal cointegrator 1 complex subunit 3 (EC 3.6.1.-).
AJ223948 - Homo sapiens mRNA for putative RNA helicase, 3' end.
BC039857 - Homo sapiens activating signal cointegrator 1 complex subunit 3, mRNA (cDNA clone IMAGE:4539514).
BC026066 - Homo sapiens activating signal cointegrator 1 complex subunit 3, mRNA (cDNA clone IMAGE:4830875), complete cds.
BC014358 - Homo sapiens activating signal cointegrator 1 complex subunit 3, mRNA (cDNA clone IMAGE:3828119), with apparent retained intron.
LF378719 - JP 2014500723-A/186222: Polycomb-Associated Non-Coding RNAs.
MA614296 - JP 2018138019-A/186222: Polycomb-Associated Non-Coding RNAs.
JD359244 - Sequence 340268 from Patent EP1572962.
JD479673 - Sequence 460697 from Patent EP1572962.
JD263968 - Sequence 244992 from Patent EP1572962.
LF378718 - JP 2014500723-A/186221: Polycomb-Associated Non-Coding RNAs.
MA614295 - JP 2018138019-A/186221: Polycomb-Associated Non-Coding RNAs.
JD019681 - Sequence 705 from Patent EP1572962.
JD032443 - Sequence 13467 from Patent EP1572962.
JD029548 - Sequence 10572 from Patent EP1572962.
CR936692 - Homo sapiens mRNA; cDNA DKFZp686H19247 (from clone DKFZp686H19247).
AK307903 - Homo sapiens cDNA, FLJ97851.
AK023189 - Homo sapiens cDNA FLJ13127 fis, clone NT2RP3002911.
BC125211 - Homo sapiens activating signal cointegrator 1 complex subunit 3, mRNA (cDNA clone IMAGE:40123540), complete cds.
BC125212 - Homo sapiens activating signal cointegrator 1 complex subunit 3, mRNA (cDNA clone IMAGE:40123543), complete cds.
BC130038 - Homo sapiens cDNA clone IMAGE:40123545, containing frame-shift errors.
BC050681 - Homo sapiens activating signal cointegrator 1 complex subunit 3, mRNA (cDNA clone IMAGE:6157156), complete cds.
AK315197 - Homo sapiens cDNA, FLJ96182, Homo sapiens dJ467N11.1 protein (DJ467N11.1), mRNA.
KJ893187 - Synthetic construct Homo sapiens clone ccsbBroadEn_02581 ASCC3 gene, encodes complete protein.
CU690764 - Synthetic construct Homo sapiens gateway clone IMAGE:100021224 5' read ASCC3 mRNA.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q8N3C0 (Reactome details) participates in the following event(s):

R-HSA-5657617 ALKBH3 associated with ASCC1:ASCC2:ASCC3 binds alkylated dsDNA containing 3-meC
R-HSA-5657637 ALKBH3 associated with ASCC1:ASCC2:ASCC3 binds alkylated dsDNA containing 1-meA
R-HSA-5657642 ALKBH3 in complex with ASCC1:ASCC2:ASCC3 binds alkylated DNA containing 1-etA
R-HSA-112123 Oxidative demethylation of 1-meA damaged DNA By ALKBH3
R-HSA-112124 Oxidative demethylation of 3-meC damaged DNA By ALKBH3
R-HSA-112125 Oxidative dealkylation of 1-EtA damaged DNA by ABH3
R-HSA-112126 ALKBH3 mediated reversal of alkylation damage
R-HSA-73943 Reversal of alkylation damage by DNA dioxygenases
R-HSA-73942 DNA Damage Reversal
R-HSA-73894 DNA Repair

-  Other Names for This Gene
  Alternate Gene Symbols: ASCC3_HUMAN, E7EW23, ENST00000369162.1, ENST00000369162.2, ENST00000369162.3, ENST00000369162.4, ENST00000369162.5, ENST00000369162.6, HELIC1, NM_006828, O43738, Q4G1A0, Q5VTN2, Q8N3C0, Q9H1I9, Q9H5A2, Q9NTR0, uc003pqk.1, uc003pqk.2, uc003pqk.3, uc003pqk.4, uc003pqk.5, uc003pqk.6
UCSC ID: ENST00000369162.7
RefSeq Accession: NM_006828
Protein: Q8N3C0 (aka ASCC3_HUMAN)
CCDS: CCDS5046.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.