Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
10973
Gene name Gene Name - the full gene name approved by the HGNC.
Activating signal cointegrator 1 complex subunit 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ASCC3
Synonyms (NCBI Gene) Gene synonyms aliases
ASC1p200, HELIC1, MRT81, RNAH
Disease Acronyms (UniProt) Disease acronyms from UniProt database
MRT81
Chromosome Chromosome number
6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6q16.3
Summary Summary of gene provided in NCBI Entrez Gene.
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
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT022461 hsa-miR-124-3p Microarray 18668037
MIRT027593 hsa-miR-98-5p Microarray 19088304
MIRT028510 hsa-miR-30a-5p Proteomics 18668040
MIRT031604 hsa-miR-16-5p Proteomics 18668040
MIRT032308 hsa-let-7b-5p Proteomics 18668040
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0003723 Function RNA binding HDA 22681889
GO:0003723 Function RNA binding IBA 21873635
GO:0005515 Function Protein binding IPI 22055184
GO:0005524 Function ATP binding IEA
GO:0005634 Component Nucleus IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
614217 18697 ENSG00000112249
Protein
UniProt ID Q8N3C0
Protein name Activating signal cointegrator 1 complex subunit 3 (EC 5.6.2.4) (ASC-1 complex subunit p200) (ASC1p200) (Helicase, ATP binding 1) (Trip4 complex subunit p200)
Protein 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
PDB 6YXQ , 8ALZ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00270 DEAD 478 657 DEAD/DEAH box helicase Domain
PF00271 Helicase_C 699 857 Helicase conserved C-terminal domain Family
PF02889 Sec63 978 1286 Sec63 Brl domain Family
PF00270 DEAD 1328 1500 DEAD/DEAH box helicase Domain
PF00271 Helicase_C 1545 1694 Helicase conserved C-terminal domain Family
PF02889 Sec63 1812 2176 Sec63 Brl domain Family
Tissue specificity TISSUE SPECIFICITY: Ubiquitous. {ECO:0000269|PubMed:12077347}.
Sequence
MALPRLTGALRSFSNVTKQDNYNEEVADLKIKRSKLHEQVLDLGLTWKKIIKFLNEKLEK
SKMQSINEDLKDILHAAKQIVGTDNGREAIESGAAFLFMTFHLKDSVGHKETKAIKQMFG
PFPSSSATAACNATNRIISHFSQDDLTALVQMTEKEHGDRVFFGKNLAFSFDMHDLDHFD
ELPINGETQKTISLDYKKFLNEHLQEACTPELKPVEKTNGSFLWCEVEKYLNSTLKEMTE
VPRVEDLCCTLYDMLASIKSGDELQDELFELLGPEGLELIEKLLQNRITIVDRFLNSSND
HRFQALQDNCKKILGENAKPNYGCQVTIQSEQEKQLMKQYRREEKRIARREKKAGEDLEV
SEGLMCFDPKELRIQREQALLNARSVPILSRQRDADVEKIHYPHVYDSQAEAMKTSAFIA
GAKMILPEGIQRENNKLYEEVRIPYSEPMPLSFEEKPVYIQDLDEIGQLAFKGMKRLNRI
QSIVFETAYNTNENMLICAPTGAGKTNIAMLTVLHEIRQHFQQGVIKKNEFKIVYVAPMK
ALAAEMTDYFSRRLEPLGIIVKELTGDMQLSKSEILRTQMLVTTPEKWDVVTRKSVGDVA
LSQIVRLLILDEVHLLHEDRGPVLESIVARTLRQVESTQSMIRILGLSATLPNYLDV
ATF
LHVNPYIGLFFFDGRFRPVPLGQTFLGIKCANKMQQLNNMDEVCYENVLKQVKAGHQVMV
FVHARNATVRTAMSLIERAKNCGHIPFFFPTQGHDYVLAEKQVQRSRNKQVRELFPDGFS
IHHAGMLRQDRNLVENLFSNGHIKVLVCTATLAWGVNLPAHAVIIKGTQIYAAKRGSFVD
LGILDVMQIFGRAGRPQ
FDKFGEGIIITTHDKLSHYLTLLTQRNPIESQFLESLADNLNA
EIALGTVTNVEEAVKWISYTYLYVRMRANPLAYGISHKAYQIDPTLRKHREQLVIEVGRK
LDKAQMIRFEERTGYFSSTDLGRTASHYYIKYNTIETFNELFDAHKTEGDIFAIVSKAEE
FDQIKVREEEIEELDTLLSNFCELSTPGGVENSYGKINILLQTYISRGEMDSFSLISDSA
YVAQNAARIVRALFEIALRKRWPTMTYRLLNLSKVIDKRLWGWASPLRQFSILPPHILTR
LEEKKLTVDKLKDMRKDEIGHILHHVNIGLKVKQCVHQIPSVMMEASIQPITRTVLRVTL
SIYADFTWNDQVHGTVGEPWWIWVEDPTNDHIYHSEYFLALKKQVISKEAQLLVFTIPIF
EPLPSQYYIRAVSDRWLGAEAVCIIN
FQHLILPERHPPHTELLDLQPLPITALGCKAYEA
LYNFSHFNPVQTQIFHTLYHTDCNVLLGAPTGSGKTVAAELAIFRVFNKYPTSKAVYIAP
LKALVRERMDDWKVRIEEKLGKKVIELTGDVTPDMKSIAKADLIVTTPEKWDGVSRSWQN
RNYVQQVTILIIDEIHLLGEERGPVLEVIVSRTNFISSHTEKPVRIVGLSTALANARDLA

DWLNIKQMGLFNFRPSVRPVPLEVHIQGFPGQHYCPRMASMNKPAFQAIRSHSPAKPVLI
FVSSRRQTRLTALELIAFLATEEDPKQWLNMDEREMENIIATVRDSNLKLTLAFGIGMHH
AGLHERDRKTVEELFVNCKVQVLIATSTLAWGVNFPAHLVIIKGTEYYDGKTRRYVDFPI
TDVLQMMGRAGRPQ
FDDQGKAVILVHDIKKDFYKKFLYEPFPVESSLLGVLSDHLNAEIA
GGTITSKQDALDYITWTYFFRRLIMNPSYYNLGDVSHDSVNKFLSHLIEKSLIELELSYC
IEIGEDNRSIEPLTYGRIASYYYLKHQTVKMFKDRLKPECSTEELLSILSDAEEYTDLPV
RHNEDHMNSELAKCLPIESNPHSFDSPHTKAHLLLQAHLSRAMLPCPDYDTDTKTVLDQA
LRVCQAMLDVAANQGWLVTVLNITNLIQMVIQGRWLKDSSLLTLPNIENHHLHLFKKWKP
IMKGPHARGRTSIESLPELIHACGGKDHVFSSMVESELHAAKTKQAWNFLSHLPVINVGI
SVKGSWDDLVEGHNELSVSTLTADKRDDNKWIKLHADQEYVLQVSLQRVHFGFHKGKPES
CAVTPRFPKSKDEGWFLILGEVDKRELIALKRVGYIRNHHVASLSFYTPEIPGRYIYTLY
FMSDCYLGLDQQYDIY
LNVTQASLSAQVNTKVSDSLTDLALK
Sequence length 2202
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    ALKBH3 mediated reversal of alkylation damage
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Mental retardation Profound Mental Retardation, Mental deficiency, Intellectual Disability rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315
View all (1024 more)
21937992
Unknown
Disease term Disease name Evidence References Source
Intellectual Developmental Disorder intellectual developmental disorder, autosomal recessive 81 GenCC
Neuroticism Neuroticism GWAS
Metabolic Syndrome Metabolic Syndrome GWAS
Anxiety Disorder Anxiety Disorder GWAS
Associations from Text Mining
Disease Name Relationship Type References
Neoplasms Associate 33139697