Q8N3C0 · ASCC3_HUMAN

  • Protein
    Activating signal cointegrator 1 complex subunit 3
  • Gene
    ASCC3
  • Status
    UniProtKB reviewed (Swiss-Prot)
  • Amino acids
  • Protein existence
    Evidence at protein level
  • Annotation score
    5/5

Function

function

ATPase involved both in DNA repair and rescue of stalled ribosomes (PubMed:22055184, PubMed:28757607, PubMed:32099016, PubMed:32579943, PubMed:36302773).
3'-5' DNA helicase involved in repair of alkylated DNA: promotes DNA unwinding to generate single-stranded substrate needed for ALKBH3, enabling ALKBH3 to process alkylated N3-methylcytosine (3mC) within double-stranded regions (PubMed:22055184).
Also involved in activation of the ribosome quality control (RQC) pathway, a pathway that degrades nascent peptide chains during problematic translation (PubMed:28757607, PubMed:32099016, PubMed:32579943, PubMed:36302773).
Drives the splitting of stalled ribosomes that are ubiquitinated in a ZNF598-dependent manner, as part of the ribosome quality control trigger (RQT) complex (PubMed:28757607, PubMed:32099016, PubMed:32579943, PubMed:36302773).
Part of the ASC-1 complex that enhances NF-kappa-B, SRF and AP1 transactivation (PubMed:12077347).

Catalytic activity

Features

Showing features for binding site.

TypeIDPosition(s)Description
Binding site499-506ATP (UniProtKB | ChEBI)
Binding site1349-1356ATP (UniProtKB | ChEBI)

GO annotations

AspectTerm
Cellular Componentactivating signal cointegrator 1 complex
Cellular Componentcytosol
Cellular Componentcytosolic ribosome
Cellular ComponentDNA repair complex
Cellular Componentmembrane
Cellular Componentnuclear speck
Cellular Componentnucleoplasm
Cellular Componentnucleus
Molecular Function3'-5' DNA helicase activity
Molecular FunctionATP binding
Molecular FunctionATP hydrolysis activity
Molecular FunctionRNA binding
Biological ProcessDNA alkylation repair
Biological ProcessDNA duplex unwinding
Biological Processrescue of stalled ribosome
Biological Processribosome disassembly
Biological Processribosome-associated ubiquitin-dependent protein catabolic process

Keywords

Enzyme and pathway databases

Names & Taxonomy

Protein names

  • Recommended name
    Activating signal cointegrator 1 complex subunit 3
  • EC number
  • Alternative names
    • ASC-1 complex subunit p200
      (ASC1p200)
    • Helicase, ATP binding 1
    • Trip4 complex subunit p200

Gene names

    • Name
      ASCC3
    • Synonyms
      HELIC1, RQT2

Organism names

  • Taxonomic identifier
  • Taxonomic lineage
    Eukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo

Accessions

  • Primary accession
    Q8N3C0
  • Secondary accessions
    • E7EW23
    • O43738
    • Q4G1A0
    • Q5VTN2
    • Q9H1I9

Proteomes

Organism-specific databases

Subcellular Location

Nucleus
Nucleus speckle
Cytoplasm, cytosol
Note: Colocalizes with ALKBH3 and ASCC2 in nuclear foci when cells have been exposed to alkylating agents that cause DNA damage.

Keywords

Disease & Variants

Involvement in disease

Intellectual developmental disorder, autosomal recessive 81 (MRT81)

  • Note
    • The disease may be caused by variants affecting the gene represented in this entry
  • Description
    An autosomal recessive disorder characterized by variable features including mild to severe developmental delay, hypotonia, feeding difficulties, extreme fatigue, and neurobehavioral abnormalities.
  • See also
    MIM:620700
Natural variants in MRT81
Variant IDPosition(s)ChangeDescription
VAR_0893301211-2202missingin MRT81; uncertain significance; dbSNP:rs372947820
VAR_0893311427T>Min MRT81; uncertain significance; dbSNP:rs1483972453
VAR_0893321472R>Qin MRT81; uncertain significance; dbSNP:rs1051651433
VAR_0893331518R>Hin MRT81; uncertain significance; dbSNP:rs148742449
VAR_0893341564S>Pin MRT81; uncertain significance; dbSNP:rs1414695401
VAR_0893351652G>Din MRT81; uncertain significance; dbSNP:rs749948570
VAR_0893361662I>Fin MRT81; uncertain significance
VAR_0893371761-2202missingin MRT81; uncertain significance; dbSNP:rs1045124261
VAR_0893381898H>Rin MRT81; uncertain significance; dbSNP:rs1381176199

Features

Showing features for natural variant, mutagenesis.

TypeIDPosition(s)Description
Natural variantVAR_034859146in dbSNP:rs9390698
Natural variantVAR_049339344in dbSNP:rs6918004
Natural variantVAR_049340478in dbSNP:rs7750940
Mutagenesis505Defective activation of the ribosome quality control (RQC) pathway. Impairs its association with ribosomes.
Natural variantVAR_0612121016in dbSNP:rs57534235
Natural variantVAR_0348601050in dbSNP:rs9497983
Natural variantVAR_0893301211-2202in MRT81; uncertain significance; dbSNP:rs372947820
Mutagenesis1354Abolishes 3'-5' DNA helicase activity and ability to promote DNA repair.
Natural variantVAR_0493411425in dbSNP:rs17246013
Natural variantVAR_0893311427in MRT81; uncertain significance; dbSNP:rs1483972453
Natural variantVAR_0893321472in MRT81; uncertain significance; dbSNP:rs1051651433
Natural variantVAR_0493421497in dbSNP:rs17305382
Natural variantVAR_0893331518in MRT81; uncertain significance; dbSNP:rs148742449
Natural variantVAR_0893341564in MRT81; uncertain significance; dbSNP:rs1414695401
Natural variantVAR_0893351652in MRT81; uncertain significance; dbSNP:rs749948570
Natural variantVAR_0893361662in MRT81; uncertain significance
Natural variantVAR_0893371761-2202in MRT81; uncertain significance; dbSNP:rs1045124261
Natural variantVAR_0348611800in dbSNP:rs35011147
Natural variantVAR_0893381898in MRT81; uncertain significance; dbSNP:rs1381176199
Natural variantVAR_0348621930in dbSNP:rs3213542
Natural variantVAR_0348631995in dbSNP:rs240780
Natural variantVAR_0348642176in dbSNP:rs240768

Variants

We now provide the "Disease & Variants" viewer in its own tab.

The viewer provides 2,175 variants from UniProt as well as other sources including ClinVar and dbSNP.

Go to variant viewer

Keywords

Organism-specific databases

Miscellaneous

Genetic variation databases

PTM/Processing

Features

Showing features for chain, modified residue, modified residue (large scale data).

TypeIDPosition(s)SourceDescription
ChainPRO_00001020931-2202UniProtActivating signal cointegrator 1 complex subunit 3
Modified residue12UniProtPhosphoserine
Modified residue (large scale data)139PRIDEPhosphoserine
Modified residue (large scale data)142PRIDEPhosphoserine
Modified residue (large scale data)209PRIDEPhosphothreonine
Modified residue (large scale data)221PRIDEPhosphoserine
Modified residue (large scale data)298PRIDEPhosphoserine
Modified residue (large scale data)452PRIDEPhosphoserine
Modified residue572UniProtN6-acetyllysine
Modified residue (large scale data)2193PRIDEPhosphoserine
Modified residue2195UniProtPhosphoserine
Modified residue (large scale data)2195PRIDEPhosphoserine

Keywords

Proteomic databases

PTM databases

Expression

Tissue specificity

Ubiquitous.

Gene expression databases

Organism-specific databases

Interaction

Subunit

Identified in the ASCC complex that contains ASCC1, ASCC2 and ASCC3 (PubMed:12077347, PubMed:29144457, PubMed:29997253).
Functions as scaffolding subunit that interacts directly with both ASCC1 and ASCC2 (PubMed:29144457, PubMed:29997253).
Interacts directly with ALKBH3, and thereby recruits ALKBH3 to the ASCC complex (PubMed:22055184, PubMed:29144457).
Part of the ASC-1/TRIP4 complex, that contains TRIP4, ASCC1, ASCC2 and ASCC3 (PubMed:12077347).
Part of the RQT (ribosome quality control trigger) complex, that contains ASCC2, ASCC3 and TRIP4 (PubMed:32099016, PubMed:32579943, PubMed:36302773).
Associates with ribosomes; recruited to collided ribosomes (PubMed:32099016, PubMed:32579943, PubMed:36302773).
Interacts with ZCCHC4 (PubMed:31799605).
Interacts with ZNF598 (PubMed:28757607).
Interacts with RPS3 (PubMed:28757607).

Binary interactions

View interactors in UniProtKB
View CPX-6641 in Complex Portal

Protein-protein interaction databases

Miscellaneous

Family & Domains

Features

Showing features for region, coiled coil, domain, motif.

TypeIDPosition(s)Description
Region1-400Required for interaction with ASCC2
Coiled coil18-79
Coiled coil328-356
Domain486-669Helicase ATP-binding 1
Motif611-614DEVH box
Domain728-914Helicase C-terminal 1
Domain978-1287SEC63 1
Domain1336-1511Helicase ATP-binding 2
Motif1453-1456DEIH box
Domain1544-1739Helicase C-terminal 2
Domain1812-2176SEC63 2

Sequence similarities

Belongs to the helicase family.

Keywords

Phylogenomic databases

Family and domain databases

Sequence & Isoforms

Align isoforms (3)
  • Sequence status
    Complete

This entry describes 3 isoforms produced by Alternative splicing.

Q8N3C0-1

This isoform has been chosen as the canonical sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

  • Length
    2,202
  • Mass (Da)
    251,460
  • Last updated
    2007-09-11 v3
  • Checksum
    9F074E6E5853399C
MALPRLTGALRSFSNVTKQDNYNEEVADLKIKRSKLHEQVLDLGLTWKKIIKFLNEKLEKSKMQSINEDLKDILHAAKQIVGTDNGREAIESGAAFLFMTFHLKDSVGHKETKAIKQMFGPFPSSSATAACNATNRIISHFSQDDLTALVQMTEKEHGDRVFFGKNLAFSFDMHDLDHFDELPINGETQKTISLDYKKFLNEHLQEACTPELKPVEKTNGSFLWCEVEKYLNSTLKEMTEVPRVEDLCCTLYDMLASIKSGDELQDELFELLGPEGLELIEKLLQNRITIVDRFLNSSNDHRFQALQDNCKKILGENAKPNYGCQVTIQSEQEKQLMKQYRREEKRIARREKKAGEDLEVSEGLMCFDPKELRIQREQALLNARSVPILSRQRDADVEKIHYPHVYDSQAEAMKTSAFIAGAKMILPEGIQRENNKLYEEVRIPYSEPMPLSFEEKPVYIQDLDEIGQLAFKGMKRLNRIQSIVFETAYNTNENMLICAPTGAGKTNIAMLTVLHEIRQHFQQGVIKKNEFKIVYVAPMKALAAEMTDYFSRRLEPLGIIVKELTGDMQLSKSEILRTQMLVTTPEKWDVVTRKSVGDVALSQIVRLLILDEVHLLHEDRGPVLESIVARTLRQVESTQSMIRILGLSATLPNYLDVATFLHVNPYIGLFFFDGRFRPVPLGQTFLGIKCANKMQQLNNMDEVCYENVLKQVKAGHQVMVFVHARNATVRTAMSLIERAKNCGHIPFFFPTQGHDYVLAEKQVQRSRNKQVRELFPDGFSIHHAGMLRQDRNLVENLFSNGHIKVLVCTATLAWGVNLPAHAVIIKGTQIYAAKRGSFVDLGILDVMQIFGRAGRPQFDKFGEGIIITTHDKLSHYLTLLTQRNPIESQFLESLADNLNAEIALGTVTNVEEAVKWISYTYLYVRMRANPLAYGISHKAYQIDPTLRKHREQLVIEVGRKLDKAQMIRFEERTGYFSSTDLGRTASHYYIKYNTIETFNELFDAHKTEGDIFAIVSKAEEFDQIKVREEEIEELDTLLSNFCELSTPGGVENSYGKINILLQTYISRGEMDSFSLISDSAYVAQNAARIVRALFEIALRKRWPTMTYRLLNLSKVIDKRLWGWASPLRQFSILPPHILTRLEEKKLTVDKLKDMRKDEIGHILHHVNIGLKVKQCVHQIPSVMMEASIQPITRTVLRVTLSIYADFTWNDQVHGTVGEPWWIWVEDPTNDHIYHSEYFLALKKQVISKEAQLLVFTIPIFEPLPSQYYIRAVSDRWLGAEAVCIINFQHLILPERHPPHTELLDLQPLPITALGCKAYEALYNFSHFNPVQTQIFHTLYHTDCNVLLGAPTGSGKTVAAELAIFRVFNKYPTSKAVYIAPLKALVRERMDDWKVRIEEKLGKKVIELTGDVTPDMKSIAKADLIVTTPEKWDGVSRSWQNRNYVQQVTILIIDEIHLLGEERGPVLEVIVSRTNFISSHTEKPVRIVGLSTALANARDLADWLNIKQMGLFNFRPSVRPVPLEVHIQGFPGQHYCPRMASMNKPAFQAIRSHSPAKPVLIFVSSRRQTRLTALELIAFLATEEDPKQWLNMDEREMENIIATVRDSNLKLTLAFGIGMHHAGLHERDRKTVEELFVNCKVQVLIATSTLAWGVNFPAHLVIIKGTEYYDGKTRRYVDFPITDVLQMMGRAGRPQFDDQGKAVILVHDIKKDFYKKFLYEPFPVESSLLGVLSDHLNAEIAGGTITSKQDALDYITWTYFFRRLIMNPSYYNLGDVSHDSVNKFLSHLIEKSLIELELSYCIEIGEDNRSIEPLTYGRIASYYYLKHQTVKMFKDRLKPECSTEELLSILSDAEEYTDLPVRHNEDHMNSELAKCLPIESNPHSFDSPHTKAHLLLQAHLSRAMLPCPDYDTDTKTVLDQALRVCQAMLDVAANQGWLVTVLNITNLIQMVIQGRWLKDSSLLTLPNIENHHLHLFKKWKPIMKGPHARGRTSIESLPELIHACGGKDHVFSSMVESELHAAKTKQAWNFLSHLPVINVGISVKGSWDDLVEGHNELSVSTLTADKRDDNKWIKLHADQEYVLQVSLQRVHFGFHKGKPESCAVTPRFPKSKDEGWFLILGEVDKRELIALKRVGYIRNHHVASLSFYTPEIPGRYIYTLYFMSDCYLGLDQQYDIYLNVTQASLSAQVNTKVSDSLTDLALK

Q8N3C0-3

  • Name
    2
  • See also
    sequence in UniParc or sequence clusters in UniRef
  • Differences from canonical
    • 81-111: VGTDNGREAIESGAAFLFMTFHLKDSVGHKE → EVNCPFQKRRLDGKEEDEKMSRASDRFRGLR
    • 112-2202: Missing

Q8N3C0-4

  • Name
    3
  • See also
    sequence in UniParc or sequence clusters in UniRef
  • Differences from canonical

Computationally mapped potential isoform sequences

There are 2 potential isoforms mapped to this entry

View all
EntryEntry nameGene nameLength
J3KNJ4J3KNJ4_HUMANASCC348
E5RFZ0E5RFZ0_HUMANASCC3176

Sequence caution

The sequence AAG45474.1 differs from that shown. Reason: Frameshift
The sequence CAA11679.1 differs from that shown. Reason: Erroneous initiation Truncated N-terminus.
The sequence CAA11679.1 differs from that shown. Reason: Frameshift

Features

Showing features for alternative sequence, sequence conflict.

TypeIDPosition(s)Description
Alternative sequenceVSP_04295581-111in isoform 2
Sequence conflict86in Ref. 5; AAH26066
Alternative sequenceVSP_042956112-2202in isoform 2
Sequence conflict444in Ref. 1; CAD39122
Sequence conflict582in Ref. 5; AAH26066
Alternative sequenceVSP_042957719-731in isoform 3
Alternative sequenceVSP_042958732-2202in isoform 3
Sequence conflict750in Ref. 1; CAD39122
Sequence conflict1187in Ref. 7; CAA11679
Sequence conflict1343in Ref. 7; CAA11679

Keywords

Sequence databases

Nucleotide SequenceProtein SequenceMolecule TypeStatus
AL834463
EMBL· GenBank· DDBJ
CAD39122.1
EMBL· GenBank· DDBJ
mRNA
AK315197
EMBL· GenBank· DDBJ
BAG37637.1
EMBL· GenBank· DDBJ
mRNA
AL121965
EMBL· GenBank· DDBJ
-Genomic DNA No translation available.
AL133338
EMBL· GenBank· DDBJ
-Genomic DNA No translation available.
AL356122
EMBL· GenBank· DDBJ
-Genomic DNA No translation available.
AL591585
EMBL· GenBank· DDBJ
-Genomic DNA No translation available.
Z86062
EMBL· GenBank· DDBJ
-Genomic DNA No translation available.
CH471051
EMBL· GenBank· DDBJ
EAW48449.1
EMBL· GenBank· DDBJ
Genomic DNA
BC050681
EMBL· GenBank· DDBJ
AAH50681.1
EMBL· GenBank· DDBJ
mRNA
BC125211
EMBL· GenBank· DDBJ
AAI25212.1
EMBL· GenBank· DDBJ
mRNA
BC125212
EMBL· GenBank· DDBJ
AAI25213.1
EMBL· GenBank· DDBJ
mRNA
BC026066
EMBL· GenBank· DDBJ
AAH26066.1
EMBL· GenBank· DDBJ
mRNA
AY013288
EMBL· GenBank· DDBJ
AAG45474.1
EMBL· GenBank· DDBJ
mRNA Frameshift
AJ223948
EMBL· GenBank· DDBJ
CAA11679.1
EMBL· GenBank· DDBJ
mRNA Sequence problems.

Genome annotation databases

Similar Proteins

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