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0ERCC6_HUMAN*   SwissProt (?) | Description Local Annotation Link Reference
General Information
NameERCC6
DescriptionDna excision repair protein ercc-6 (cockayne syndrome protein csb).
SpeciesHomo sapiens (NCBI taxonomy ID: 9606)
GO0003678 DNA helicase activity (TAS)
0005515 protein binding (IPI)
0003702 RNA polymerase II transcription factor acti... (TAS)
0006281 DNA repair (TAS)
0006366 transcription from RNA polymerase II promoter (TAS)

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schematic display of those terms with internal associations, click the node and browse the corresponding GO term
Domain Architecture (Details)
InterPro domains unassigned to SynO:
This domain is found in proteins involved in a variety of processes including transcription regulation (e.g..NF2.TH1.rahma.OT1).NA repair (e.g..RCC6.AD16.AD5).NA recombination (e.g..AD54).nd chromatin unwinding (e.g..SWI) as well as a variety of other proteins with little functional information (e.g..odestar.TL1) . SNF2 functions as the ATPase component of the SNF2/SWI multisubunit complex.hich utilises energy derived from ATP hydrolysis to disrupt histone-DNA interactions.esulting in the increased accessibility of DNA to transcription factors.Proteins that contain this domain appear to be distantly related to theDEAX box helicases .oweverno helicase activity has ever been demonstrated for these proteins.
  IPR000330:SNF2-related
This entry is found in DEAD and DEAH box helicases. Helicases are involved in unwinding nucleic acids. The DEAD box helicases are involved in various aspects of RNA metabolism.ncluding nuclear transcription.re mRNA splicing.ibosome biogenesis.ucleocytoplasmic transport.ranslation.NA decay and organellar gene expression.
  IPR014001:DEAD-like helicases, N-terminal
The domain.hich defines this group of proteins is found in a wide variety of helicases and helicase related proteins. It may be that this is not an autonomously folding unit.ut an integral part of the helicase.The eukaryotic translation initiation factor 4A (eIF4A) is a member of the DEA(D/H)-box RNA helicase family This is a diverse group of proteins that couples an ATPase activity to RNA binding and unwinding. The structure of the carboxyl-terminal domain of eIF4A has been determined to 1.75 A resolution; it has a parallel alpha-beta topology that superimposes.ith minor variations.n the structures and conserved motifs of the equivalent domain in other.istantly related helicases .
  IPR001650:Helicase, C-terminal
Winged helix DNA-binding proteins share a related winged helix-turn-helix DNA-binding motif.here the "wings".r loops.re small beta-sheets. The winged helix motif consists of two wings (W1.2).hree alpha helices (H1.2.3) and three beta-sheets (S1.2.3) arranged in the order H1-S1-H2-H3-S2-W1-S3-W2 . The DNA-recognition helix makes sequence-specific DNA contacts with the major groove of DNA.hile the wings make different DNA contacts.ften with the minor groove or the backbone of DNA. Several winged-helix proteins display an exposed patch of hydrophobic residues thought to mediate protein-protein interactions.Many different proteins with diverse biological functions contain a winged helix DNA-binding domain.ncluding transcriptional repressors such as biotin repressor.exA repressor and the arginine repressor ; transcription factors such as the hepatocyte nuclear factor-3 proteins involved in cell differentiation.eat-shock transcription factor.nd the general transcription factors TFIIE and TFIIF . helicases such as RuvB that promotes branch migration at the Holliday junction.nd CDC6 in the pre-replication complex . endonucleases such as FokI and TnsA ; histones; and Mu transposase.here the flexible wing of the enhancer-binding domain is essential for efficient transposition .
  IPR011991:Winged helix repressor DNA-binding
IPR000330:SNF2_N 
Evalue:-145.958602905273 
Location:510-812IPR001650:Helicase_C 
Evalue:-23.4948501586914 
Location:874-952IPR011991:Wing_hlx_DNA_bd 
Evalue:0 
Location:1466-1493
SequencesProtein: ERCC6_HUMAN (1493 aa)
mRNA: NM_000124
Local Annotation
Synapse Ontology
Typical ecretory organelles, some 50 nm in diameter, of presynaptic nerve terminals; accumulate high concentrations of nonpeptide neurotransmitters and secrete these into the synaptic cleft by fusion with the 'active zone' of the presynaptic plasma membrane.
sdb:0094 typical synaptic vesicle  (Evidence:keywords)
Calcium release from RyR (Ryanodine Receptor) in the SR (Sarcoplasmic Reticulum) is activated by the calcium induced-calcium-release
sdb:0325 RyR-CICR  (Evidence:keywords)
KO assignmentNot mapped to KEGG
Loci Structure (Details)Loci index, Chromosomal location, Length, Possible relational loci clusterExon1: 191 residues, 50336714-50337286Exon2: 28 residues, 50338424-50338503Exon3: 70 residues, 50339403-50339608Exon4: 238 residues, 50348233-50348941Exon5: 50 residues, 50349026-50349172Exon6: 33 residues, 50350427-50350522Exon7: 42 residues, 50350960-50351080Exon8: 39 residues, 50351528-50351639Exon9: 74 residues, 50352078-50352294Exon10: 34 residues, 50354266-50354362Exon11: 41 residues, 50356405-50356522Exon12: 61 residues, 50360738-50360915Exon13: 59 residues, 50361397-50361568Exon14: 47 residues, 50371168-50371304Exon15: 55 residues, 50378589-50378748Exon16: 45 residues, 50383935-50384064Exon17: 250 residues, 50402084-50402829Exon18: 38 residues, 50406468-50406577Exon19: 42 residues, 50408771-50408892Exon20: 147 residues, 50410594-50411030Exon21: 23 residues, 50417013-50417078Exon22: 2 residues, -Jump to ERCC6_HUMAN  
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Loci Cluster (Details)Loci: 2614 50488352-50490771 ~-2K 4893(SLC18A3)(+)Loci: 2615 50492061-50543156 ~-51K 4895(CHAT)(+)Loci: 3890 50336714-50417078 ~-80K 4890(ERCC6)(-)Link out to UCSC