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0ERCC2_HUMAN*   SwissProt (?) | Description Local Annotation Link Reference
General Information
NameERCC2
DescriptionTfiih basal transcription factor complex helicase subunit (ec 3.6.1.-) (dna-repair protein complementing xp-d cells) (xeroderma pigmentosum group d complementing protein) (cxpd) (dna excision repair protein ercc-2).
SpeciesHomo sapiens (NCBI taxonomy ID: 9606)
GO0005634 nucleus (NAS)
0005675 transcription factor TFIIH complex (TAS)
0043139 5' to 3' DNA helicase activity (IDA)
0008094 DNA-dependent ATPase activity (TAS)
0005515 protein binding (IPI)
0006917 induction of apoptosis (IMP)
0006366 transcription from RNA polymerase II promoter (TAS)
0006283 transcription-coupled nucleotide-excision r... (IDA)

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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 of unknown function is found in the Xeroderma pigmentosum group D (XPD) proteins which belong to a family of ATP-dependent helicases characterised by a D-E-A-H motif. This resembles the D-E-A-D-box of other known helicases.hich represents a special version of the B motif of ATP-binding proteins. In XPD.is replaces the second Asp. 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.
  IPR006554:DEXDc2
This domain represents a conserved region within a number of eukaryotic DNA repair helicases.
  IPR010643:Protein of unknown function DUF1227
This domain of unknown function is found at the C-terminal of some ATP-dependent helicases characterised by a D-E-A-H motif. This resembles the D-E-A-D-box of other known helicases. special version of the B motif of ATP-binding proteins however His replaces the second Asp. 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.
  IPR006555:Helicase c2
This represents a conserved region within a number of RAD3-like DNA-binding helicases that are seemingly ubiquitous - members include proteins of eukaryotic.acterial and archaeal origin. RAD3 is involved in nucleotide excision repair.nd forms part of the transcription factor TFIIH in yeast .
  IPR010614:DEAD_2
Defects in DNA repair proteins can give rise.n humans.o the autosomal recessive disorders xeroderma pigmentosum (XP) and Cockaynes syndrome . XP is characterised by a high incidence of sunlight-induced skin cancer.he effect of skin-cell hypersensitivity to UV resulting from defects in the nucleotide excision pathway. Seven XP complementation groups have been identified: XP-A to XP-G.The XP group D gene product (XPD) is a helicase that is required for nucleotide excision repair.nd is also one of the components of basal transcription factor TFIIH . DNA repair defects in the XPD group are associated with the clinical features of XP and trichothiodystrophy (TTD).hich is characterised by sulphur-deficient brittle hair and a variety of other associated abnormalities.ut no skin cancer .XPD belongs to a family of ATP-dependent helicases that are characterised by a D-E-A-H motif . This resembles the D-E-A-D-box of other known helicases.hich represents a special version of the B motif of ATP-binding proteins. In XPD.is replaces the second Asp.
  IPR001945:Xeroderma pigmentosum group D protein
All proteins in this family for which functions are known are DNA-DNA helicases that function in the initiation of transcription and nucleotide excision repair as part of the TFIIH complex.
  IPR013020:DNA repair helicase Rad3
IPR006554:DEXDc2 
Evalue:-142.397940008672 
Location:8-280IPR006555:HELICc2 
Evalue:-75.8538719643218 
Location:542-686IPR001945:XRODRMPGMNTD 
Evalue:0 
Location:372-394IPR001945:XRODRMPGMNTD 
Evalue:0 
Location:333-354IPR001945:XRODRMPGMNTD 
Evalue:0 
Location:707-727IPR001945:XRODRMPGMNTD 
Evalue:0 
Location:403-421IPR001945:XRODRMPGMNTD 
Evalue:0 
Location:308-326IPR001945:XRODRMPGMNTD 
Evalue:0 
Location:492-509
SequencesProtein: ERCC2_HUMAN (760 aa)
mRNA: NM_000400
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)
KO assignmentK01529
  Level 3 annotation:
    
  Level 2 annotation:
    Starch and sucrose metabolism
    Folate biosynthesis
Loci Structure (Details)Loci index, Chromosomal location, Length, Possible relational loci clusterExon1: 45 residues, 50546685-50546819Exon2: 50 residues, 50547306-50547450Exon3: 50 residues, 50547603-50547747Exon4: 25 residues, 50547843-50547914Exon5: 26 residues, 50548180-50548253Exon6: 33 residues, 50548339-50548432Exon7: 42 residues, 50549827-50549949Exon8: 23 residues, 50550762-50550826Exon9: 36 residues, 50552367-50552469Exon10: 25 residues, 50552571-50552641Exon11: 25 residues, 50552727-50552797Exon12: 41 residues, 50556621-50556740Exon13: 58 residues, 50558840-50559009Exon14: 46 residues, 50559083-50559217Exon15: 34 residues, 50559332-50559429Exon16: 43 residues, 50559521-50559645Exon17: 41 residues, 50559935-50560052Exon18: 41 residues, 50560139-50560256Exon19: 40 residues, 50563727-50563841Exon20: 23 residues, 50564027-50564090Exon21: 28 residues, 50564167-50564245Exon22: 35 residues, 50565230-50565330Exon23: 14 residues, 50565633-50565669Exon24: 2 residues, -Jump to ERCC2_HUMAN  
Tune and view alternative isoforms
Loci Cluster (Details)Loci: 3116 50100878-50104489 ~-4K 19057(APOE)(+)Loci: 3117 50234137-50266053 ~-32K 19065(SFRS16)(+)Loci: 4398 50407718-50429309 ~-22K 19076(-)Loci: 3118 50446389-50500381 ~-54K 19078(MARK4)(+)Loci: 4399 50546685-50565669 ~-19K 19089(ERCC2)(-)Loci: 4400 50747641-50779917 ~-32K 19109(OPA3)(-)Loci: 4401 50804499-50834509 ~-30K 19111(EML2)(-)Loci: 3119 50863341-50877557 ~-14K 19113(GIPR)(+)Loci: 4402 51134630-51168497 ~-34K 19134(NOVA2)(-)Loci: 3120 51542133-51585943 ~-44K 19149(PPP5C)(+)Loci: 3121 51796351-51805878 ~-10K 19157(CALM1)(+)Loci: 4403 51869413-51911506 ~-42K 19161(PRKD2)(-)Loci: 4404 52033262-52046043 ~-13K 19167(AP2S1)(-)Loci: 3115 50004177-50016517 ~-12K 19053(LU)(+)Link out to UCSC