KEGG   Homo sapiens (human): 10973
Entry
10973             CDS       T01001                                 
Symbol
ASCC3, ASC1p200, HELIC1, MRT81, RNAH
Name
(RefSeq) activating signal cointegrator 1 complex subunit 3
  KO
K18663  activating signal cointegrator complex subunit 3 [EC:5.6.2.4]
Organism
hsa  Homo sapiens (human)
Disease
H00768  Autosomal recessive intellectual developmental disorder
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03400 DNA repair and recombination proteins [BR:hsa03400]
    10973 (ASCC3)
Enzymes [BR:hsa01000]
 5. Isomerases
  5.6  Isomerases altering macromolecular conformation
   5.6.2  Enzymes altering nucleic acid conformation
    5.6.2.4  DNA 3'-5' helicase
     10973 (ASCC3)
DNA repair and recombination proteins [BR:hsa03400]
 Eukaryotic type
  SSBR (single strand breaks repair)
   Direct repair
    10973 (ASCC3)
SSDB
Motif
Pfam: Sec63 DEAD ResIII Helicase_C AAA_22 Helicase_PWI T2SSE AAA_19 GARS_N AAA_30 IstB_IS21
Other DBs
NCBI-GeneID: 10973
NCBI-ProteinID: NP_006819
OMIM: 614217
HGNC: 18697
Ensembl: ENSG00000112249
UniProt: Q8N3C0 B4DR60
Structure
Position
6:complement(100508194..100881329)
AA seq 2202 aa
MALPRLTGALRSFSNVTKQDNYNEEVADLKIKRSKLHEQVLDLGLTWKKIIKFLNEKLEK
SKMQSINEDLKDILHAAKQIVGTDNGREAIESGAAFLFMTFHLKDSVGHKETKAIKQMFG
PFPSSSATAACNATNRIISHFSQDDLTALVQMTEKEHGDRVFFGKNLAFSFDMHDLDHFD
ELPINGETQKTISLDYKKFLNEHLQEACTPELKPVEKTNGSFLWCEVEKYLNSTLKEMTE
VPRVEDLCCTLYDMLASIKSGDELQDELFELLGPEGLELIEKLLQNRITIVDRFLNSSND
HRFQALQDNCKKILGENAKPNYGCQVTIQSEQEKQLMKQYRREEKRIARREKKAGEDLEV
SEGLMCFDPKELRIQREQALLNARSVPILSRQRDADVEKIHYPHVYDSQAEAMKTSAFIA
GAKMILPEGIQRENNKLYEEVRIPYSEPMPLSFEEKPVYIQDLDEIGQLAFKGMKRLNRI
QSIVFETAYNTNENMLICAPTGAGKTNIAMLTVLHEIRQHFQQGVIKKNEFKIVYVAPMK
ALAAEMTDYFSRRLEPLGIIVKELTGDMQLSKSEILRTQMLVTTPEKWDVVTRKSVGDVA
LSQIVRLLILDEVHLLHEDRGPVLESIVARTLRQVESTQSMIRILGLSATLPNYLDVATF
LHVNPYIGLFFFDGRFRPVPLGQTFLGIKCANKMQQLNNMDEVCYENVLKQVKAGHQVMV
FVHARNATVRTAMSLIERAKNCGHIPFFFPTQGHDYVLAEKQVQRSRNKQVRELFPDGFS
IHHAGMLRQDRNLVENLFSNGHIKVLVCTATLAWGVNLPAHAVIIKGTQIYAAKRGSFVD
LGILDVMQIFGRAGRPQFDKFGEGIIITTHDKLSHYLTLLTQRNPIESQFLESLADNLNA
EIALGTVTNVEEAVKWISYTYLYVRMRANPLAYGISHKAYQIDPTLRKHREQLVIEVGRK
LDKAQMIRFEERTGYFSSTDLGRTASHYYIKYNTIETFNELFDAHKTEGDIFAIVSKAEE
FDQIKVREEEIEELDTLLSNFCELSTPGGVENSYGKINILLQTYISRGEMDSFSLISDSA
YVAQNAARIVRALFEIALRKRWPTMTYRLLNLSKVIDKRLWGWASPLRQFSILPPHILTR
LEEKKLTVDKLKDMRKDEIGHILHHVNIGLKVKQCVHQIPSVMMEASIQPITRTVLRVTL
SIYADFTWNDQVHGTVGEPWWIWVEDPTNDHIYHSEYFLALKKQVISKEAQLLVFTIPIF
EPLPSQYYIRAVSDRWLGAEAVCIINFQHLILPERHPPHTELLDLQPLPITALGCKAYEA
LYNFSHFNPVQTQIFHTLYHTDCNVLLGAPTGSGKTVAAELAIFRVFNKYPTSKAVYIAP
LKALVRERMDDWKVRIEEKLGKKVIELTGDVTPDMKSIAKADLIVTTPEKWDGVSRSWQN
RNYVQQVTILIIDEIHLLGEERGPVLEVIVSRTNFISSHTEKPVRIVGLSTALANARDLA
DWLNIKQMGLFNFRPSVRPVPLEVHIQGFPGQHYCPRMASMNKPAFQAIRSHSPAKPVLI
FVSSRRQTRLTALELIAFLATEEDPKQWLNMDEREMENIIATVRDSNLKLTLAFGIGMHH
AGLHERDRKTVEELFVNCKVQVLIATSTLAWGVNFPAHLVIIKGTEYYDGKTRRYVDFPI
TDVLQMMGRAGRPQFDDQGKAVILVHDIKKDFYKKFLYEPFPVESSLLGVLSDHLNAEIA
GGTITSKQDALDYITWTYFFRRLIMNPSYYNLGDVSHDSVNKFLSHLIEKSLIELELSYC
IEIGEDNRSIEPLTYGRIASYYYLKHQTVKMFKDRLKPECSTEELLSILSDAEEYTDLPV
RHNEDHMNSELAKCLPIESNPHSFDSPHTKAHLLLQAHLSRAMLPCPDYDTDTKTVLDQA
LRVCQAMLDVAANQGWLVTVLNITNLIQMVIQGRWLKDSSLLTLPNIENHHLHLFKKWKP
IMKGPHARGRTSIESLPELIHACGGKDHVFSSMVESELHAAKTKQAWNFLSHLPVINVGI
SVKGSWDDLVEGHNELSVSTLTADKRDDNKWIKLHADQEYVLQVSLQRVHFGFHKGKPES
CAVTPRFPKSKDEGWFLILGEVDKRELIALKRVGYIRNHHVASLSFYTPEIPGRYIYTLY
FMSDCYLGLDQQYDIYLNVTQASLSAQVNTKVSDSLTDLALK
NT seq 6609 nt   +upstreamnt  +downstreamnt
atggctttacctcgtctcacaggagccttgcgttccttttcaaatgtcaccaagcaagat
aattataatgaagaagtggctgacttaaagataaagcgatctaaacttcatgaacaagtt
ttagatttgggcctgacatggaagaagataataaaatttttgaatgaaaaactggagaag
agtaaaatgcaaagtataaatgaagacttaaaagatatattacatgctgcaaagcagata
gttggaactgataatgggagagaagcaattgaaagtggggctgcatttctcttcatgaca
tttcacttgaaggactctgttggtcacaaggaaacaaaggctatcaaacagatgtttggc
ccctttccttcatcatctgccactgcagcttgtaatgctactaatcgaattatttctcat
tttagtcaagatgatcttactgctcttgtgcagatgacagaaaaagaacatggcgatagg
gttttttttggtaaaaatttagcattttcatttgacatgcatgatttggaccactttgac
gaactgccaataaatggtgaaactcagaaaactataagcctagattataagaagtttctg
aatgaacatctccaggaggcttgcaccccagaactcaagcctgtggaaaaaacaaatggc
tcctttttgtggtgtgaagttgaaaagtacctaaattcaactttgaaggaaatgactgaa
gtgccaagagtagaagatctttgctgtactttatatgatatgcttgcttctattaaaagt
ggtgatgaacttcaggatgagctatttgaactgctgggacctgaaggacttgaacttatt
gagaaactcctccagaacagaattacaattgtggatagatttcttaattcttcaaatgat
cataggtttcaggctcttcaagacaattgtaaaaaaattttaggagaaaatgctaaaccc
aattatggttgtcaagtcactattcagtctgaacaagaaaagcagttaatgaaacaatat
cgacgtgaagaaaaaagaattgccagacgagaaaaaaaggctggagaagatttagaagtt
tcagaaggacttatgtgctttgatcctaaggaattgcggatacaaagagaacaggcactt
ctgaatgctagaagtgttccaattctgagcaggcagagagatgcagacgttgaaaaaata
cattatccccatgtgtatgattcccaggctgaagccatgaaaacatcagcatttattgct
ggtgcaaagatgattttgccagaaggaatccaaagagagaataacaagctttatgaagaa
gtaaggattccctacagcgaaccaatgccactcagctttgaggaaaagccagtttatatc
caagacttagatgagatcggacagctggcttttaaaggaatgaagagactcaatagaatc
cagtcaatagtgtttgagactgcctacaacaccaatgagaacatgctgatttgtgcccct
acaggagctggaaaaaccaacattgcaatgctgacagtcttgcatgaaattcgccaacat
tttcaacaaggtgttatcaaaaagaatgaatttaagattgtatatgttgctccaatgaaa
gccttggcagctgaaatgacagattacttcagcagacgtctagagccactaggcatcatt
gtgaaagaattgactggtgacatgcagttgtccaaaagtgaaattttacgaactcagatg
cttgtgaccacaccagaaaaatgggatgtagtgacaagaaagagtgttggggatgtagct
ctttcccagattgtaaggctccttattcttgatgaagttcatttgctgcatgaagataga
ggaccagtattagaaagcatagttgcccgtactttacggcaggtggaatccacacagagt
atgataaggattctcggactgtctgcaactttacctaactacctcgatgttgccacattt
ttacatgttaatccatacattggacttttcttctttgatggccgttttcgaccagtacct
cttggacagacatttttggggattaaatgtgcaaataagatgcagcagttgaataacatg
gatgaagtatgttatgaaaatgttttgaagcaagtaaaggctggacaccaggtgatggtg
tttgtacatgctcgaaatgccactgtaagaacagctatgtctctaatagaaagagcaaaa
aattgtggccatattcccttcttttttcctacccaaggacatgactatgtacttgcagaa
aaacaggtacaaaggtcgagaaataagcaagtacgagaattattcccagatggttttagt
attcatcatgcaggaatgcttcggcaggacagaaatttagttgaaaacttgttttctaat
gggcatatcaaagtcctagtgtgtacagctacgttagcctggggtgtcaatcttcccgcc
catgctgttattattaagggaacacaaatatatgctgcaaaaagaggctcctttgttgac
cttggaattttagatgtcatgcagatatttggtcgagctggacgaccacaatttgacaaa
tttggggaaggaataattataacaacgcatgataaactcagccattacctcactttgctc
actcaacgaaacccaattgagagtcagtttctggaaagccttgcagataacctaaatgca
gagattgctctgggaacagttactaatgtggaagaagcagtgaagtggataagttacact
tatctttatgtacggatgagagcaaatccattagcatatggcatcagtcacaaggcttat
cagattgacccaacattaagaaagcatcgagaacagttggtcattgaagttggacgaaaa
ctagacaaagctcagatgattcgttttgaggagcgaactggatatttttcctcaactgat
ttgggtagaactgccagccattactatattaaatacaacaccattgagacctttaatgaa
ctctttgatgctcacaaaacagaaggtgatatctttgccatagtctccaaagctgaagaa
tttgatcaaattaaggtcagagaagaggaaatagaggagttagataccttattaagcaat
ttttgtgaactctccactcctggaggtgtagagaatagttatgggaaaataaacatctta
cttcaaacttatatcagccgaggagaaatggacagtttctcccttatatcagattctgca
tatgttgcacagaatgcagctagaattgtccgtgctctttttgaaattgctctgaggaaa
cgttggcctaccatgacctacaggctcctgaatcttagtaaagtcattgacaagaggctt
tggggttgggctagccctttgagacaattttcaatcctaccaccacacatcctaacaaga
ttagaagaaaaaaagcttactgtggataagctgaaagacatgaggaaagatgaaataggt
cacattttacatcatgtgaatattggactgaaggtcaaacaatgtgttcatcagattcct
tctgttatgatggaagcatccattcagcctatcacaaggactgtcctccgagtgacactc
agcatctatgctgatttcacttggaatgatcaggtacatgggacagtaggagaaccttgg
tggatttgggtagaagatcctacaaatgatcatatttatcattcagagtattttctagct
ctaaaaaaacaagtcattagtaaagaagcccaactactggtatttacaatccctattttt
gagcctttgccttcccaatactacatccgagcagtgtctgatagatggttgggtgctgag
gcagtatgtattatcaactttcaacatctaattctaccagagagacatcctcctcataca
gaattactggatcttcagcctttaccaatcacagctttgggatgtaaagcatatgaagcc
ctgtacaacttcagccactttaaccctgtacagacacaaatatttcatacattgtatcac
acggattgtaatgtcctacttggagcacctactggatcgggaaagactgttgcagctgaa
ttagccattttcagagtcttcaacaaataccctacttcaaaggcggtatatattgcaccc
ctaaaagccctagtacgtgaaagaatggatgattggaaagttagaatagaagaaaaactt
ggtaaaaaagttattgaactaacaggggatgtgactcctgatatgaaatccattgccaag
gctgaccttatcgtcactacgccagagaagtgggatggagtcagcagaagctggcaaaat
aggaactatgttcagcaagtcactattctcatcatagatgagatccatctgcttggggag
gaaagaggccctgttctagaggtcattgtatctcgaacaaattttatctcatcacacaca
gaaaagcctgttagaatagttggactatctactgcattagctaatgccagagaccttgct
gattggctcaatattaagcagatgggcttgtttaacttccgaccatcagtacgcccagtt
ccactggaagttcacattcaaggctttccaggtcaacattactgtcctcgtatggctagt
atgaacaagcctgcatttcaggcaattagaagccattctccagccaaacctgttttgata
tttgtctcatcaagacgtcaaactcgtcttactgctttggaattgatcgccttcctggct
actgaagaagatccaaagcagtggttaaacatggatgaaagagagatggagaacatcatt
gcaacagtaagagattccaacctcaagctgacccttgctttcgggataggaatgcatcat
gctggactacatgagagggaccgaaaaacagtagaggaactatttgtaaactgtaaagtt
caggttcttattgctacaagcacattagcctggggtgtaaactttccagctcatttagta
attattaagggaacagaatactatgatggaaaaacaagacgttatgtggattttcccatt
acagatgtcctccagatgatggggcgtgctgggaggccgcagttcgatgaccaaggcaaa
gctgtaattctagttcatgacataaagaaagacttttataaaaaatttctttatgaacct
ttcccagtagaatcaagtttattaggagtgctctctgaccacttaaatgcagagattgct
ggtggtacaattacatctaagcaagatgcattggattatatcacctggacttactttttc
cgacgtcttatcatgaatcccagctattacaatttgggtgatgtgagccatgattctgtg
aacaagtttctgtcccatctgattgagaagtccctgattgaattggaactttcctactgt
attgaaattggagaggataatcgcagcattgaacctctaacttatggccgaattgcctcc
tattactatttgaagcatcaaacagttaaaatgttcaaggaccgcttgaagcctgaatgc
agtactgaagaactgctttcaattctaagtgatgcagaagaatatacagatttgccagtg
agacacaatgaagatcatatgaatagtgaactggcaaaatgtcttcccattgaatcaaat
cctcattcatttgacagccctcacaccaaagcacatctcctgctacaggcacatctcagc
cgagccatgctaccctgcccagattatgacactgataccaaaacagtcttggaccaagct
ctcagagtatgtcaggcaatgctggacgtggctgcaaaccagggctggctggtgactgtc
ctgaatatcaccaacctgattcagatggtgatccagggtcggtggttaaaggactcttct
cttcttacactaccaaacatagaaaaccatcatcttcaccttttcaagaaatggaagccg
attatgaagggcccacatgctaggggtcggacctccatcgagtcccttcctgaactgatc
catgcctgtggagggaaagaccatgtatttagctccatggtagaaagtgagctacatgct
gcaaaaacgaaacaggcatggaatttcttatctcacttgccagtgataaatgttggcata
agtgttaaaggctcgtgggatgacttagttgaaggacataatgaactctctgtctcaact
ctgactgcagacaaacgagatgacaacaaatggatcaaattgcatgctgaccaagagtat
gtgcttcaagtgagcttgcagagagtccactttgggttccacaagggaaagccagagagc
tgtgcagttactcctcgatttcccaaatcaaaagacgaaggatggtttttgatattagga
gaagtggataagagagaacttattgctttgaaaagagtaggatatattcgaaatcatcat
gttgcttccctttctttttatacccctgaaatacctggaaggtatatctacacattatat
ttcatgagtgactgctaccttggcctggaccagcagtatgacatctatctcaacgttaca
caagcgagtctttctgcacaggtcaacaccaaggtctctgattccctgactgacctggca
ttaaagtaa

  All links  
Ontology (3)   
   KEGG BRITE (3)   
Disease (3)   
   KEGG DISEASE (1)   
   OMIM (2)   
Chemical reaction (1)   
   KEGG ENZYME (1)   
Genome (1)   
   KEGG GENOME (1)   
Gene (33)   
   KEGG ORTHOLOGY (1)   
   RefGene (25)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (2)   
   OC (1)   
Protein sequence (14)   
   UniProt (2)   
   SWISS-PROT (1)   
   RefSeq(pep) (11)   
DNA sequence (49)   
   RefSeq(nuc) (11)   
   GenBank (19)   
   EMBL (19)   
3D Structure (2)   
   PDB (2)   
Protein domain (11)   
   Pfam (11)   
All databases (117)   

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