Description: Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 3 (ERCC3), mRNA. RefSeq Summary (NM_000122): This gene encodes an ATP-dependent DNA helicase that functions in nucleotide excision repair. The encoded protein is a subunit of basal transcription factor 2 (TFIIH) and, therefore, also functions in class II transcription. Mutations in this gene are associated with Xeroderma pigmentosum B, Cockayne's syndrome, and trichothiodystrophy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]. Transcript (Including UTRs) Position: hg19 chr2:128,014,866-128,051,752 Size: 36,887 Total Exon Count: 15 Strand: - Coding Region Position: hg19 chr2:128,015,172-128,051,657 Size: 36,486 Coding Exon Count: 15
ID:ERCC3_HUMAN DESCRIPTION: RecName: Full=TFIIH basal transcription factor complex helicase XPB subunit; EC=3.6.4.12; AltName: Full=Basic transcription factor 2 89 kDa subunit; Short=BTF2 p89; AltName: Full=DNA excision repair protein ERCC-3; AltName: Full=DNA repair protein complementing XP-B cells; AltName: Full=TFIIH basal transcription factor complex 89 kDa subunit; Short=TFIIH 89 kDa subunit; Short=TFIIH p89; AltName: Full=Xeroderma pigmentosum group B-complementing protein; FUNCTION: ATP-dependent 3'-5' DNA helicase, component of the core- TFIIH basal transcription factor, involved in nucleotide excision repair (NER) of DNA and, when complexed to CAK, in RNA transcription by RNA polymerase II. Acts by opening DNA either around the RNA transcription start site or the DNA damage. CATALYTIC ACTIVITY: ATP + H(2)O = ADP + phosphate. SUBUNIT: One of the 6 subunits forming the core-TFIIH basal transcription factor which associates with the CAK complex composed of CDK7, CCNH/cyclin H and MNAT1 to form the TFIIH basal transcription factor. Interacts with PUF60. Interacts with ATF7IP. Interacts with Epstein-Barr virus EBNA2. INTERACTION: P62195:PSMC5; NbExp=4; IntAct=EBI-1183307, EBI-357745; P62196:Psmc5 (xeno); NbExp=6; IntAct=EBI-1183307, EBI-357713; P54727:RAD23B; NbExp=2; IntAct=EBI-1183307, EBI-954531; Q01831:XPC; NbExp=2; IntAct=EBI-1183307, EBI-372610; SUBCELLULAR LOCATION: Nucleus. DISEASE: Defects in ERCC3 are the cause of xeroderma pigmentosum complementation group B (XP-B) [MIM:610651]; also known as xeroderma pigmentosum II (XP2) or XP group B (XPB) or xeroderma pigmentosum group B combined with Cockayne syndrome (XP-B/CS). Xeroderma pigmentosum is an autosomal recessive pigmentary skin disorder characterized by solar hypersensitivity of the skin, high predisposition for developing cancers on areas exposed to sunlight and, in some cases, neurological abnormalities. Some XP-B patients present features of Cockayne syndrome, including dwarfism, sensorineural deafness, microcephaly, mental retardation, pigmentary retinopathy, ataxia, decreased nerve conduction velocities. DISEASE: Defects in ERCC3 are a cause of trichothiodystrophy photosensitive (TTDP) [MIM:601675]. TTDP is an autosomal recessive disease characterized by sulfur-deficient brittle hair and nails, ichthyosis, mental retardation, impaired sexual development, abnormal facies and cutaneous photosensitivity correlated with a nucleotide excision repair (NER) defect. Neonates with trichothiodystrophy and ichthyosis are usually born with a collodion membrane. The severity of the ichthyosis after the membrane is shed is variable, ranging from a mild to severe lamellar ichthyotic phenotype. There are no reports of skin cancer associated with TTDP. SIMILARITY: Belongs to the helicase family. RAD25/XPB subfamily. SIMILARITY: Contains 1 helicase ATP-binding domain. SIMILARITY: Contains 1 helicase C-terminal domain. WEB RESOURCE: Name=Allelic variations of the XP genes; URL="http://www.xpmutations.org/"; WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/XPBID296.html"; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ERCC3"; WEB RESOURCE: Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/ercc3/";
benzene haematotoxicity H D Hosgood , et al. Occupational and environmental medicine 2009 66(12):848-53, Association between genetic variants in VEGF, ERCC3 and occupational benzene haematotoxicity., Occupational and environmental medicine 2009 66(12):848-53.
[PubMed 19773279]
Hip Douglas P Kiel et al. BMC medical genetics 2007, Genome-wide association with bone mass and geometry in the Framingham Heart Study., BMC medical genetics.
[PubMed 17903296]
The FHS 100K SNP project offers an unbiased genome-wide strategy to identify new candidate loci and to replicate previously suggested candidate genes for osteoporosis.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P19447
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0000717 nucleotide-excision repair, DNA duplex unwinding GO:0001666 response to hypoxia GO:0006265 DNA topological change GO:0006281 DNA repair GO:0006283 transcription-coupled nucleotide-excision repair GO:0006289 nucleotide-excision repair GO:0006293 nucleotide-excision repair, preincision complex stabilization GO:0006294 nucleotide-excision repair, preincision complex assembly GO:0006296 nucleotide-excision repair, DNA incision, 5'-to lesion GO:0006351 transcription, DNA-templated GO:0006355 regulation of transcription, DNA-templated GO:0006361 transcription initiation from RNA polymerase I promoter GO:0006363 termination of RNA polymerase I transcription GO:0006366 transcription from RNA polymerase II promoter GO:0006367 transcription initiation from RNA polymerase II promoter GO:0006368 transcription elongation from RNA polymerase II promoter GO:0006370 7-methylguanosine mRNA capping GO:0006468 protein phosphorylation GO:0006915 apoptotic process GO:0006974 cellular response to DNA damage stimulus GO:0006979 response to oxidative stress GO:0008104 protein localization GO:0009411 response to UV GO:0009650 UV protection GO:0016032 viral process GO:0033683 nucleotide-excision repair, DNA incision GO:0035315 hair cell differentiation GO:0043065 positive regulation of apoptotic process GO:0045944 positive regulation of transcription from RNA polymerase II promoter GO:0048568 embryonic organ development GO:0070911 global genome nucleotide-excision repair GO:1901990 regulation of mitotic cell cycle phase transition
AK127469 - Homo sapiens cDNA FLJ45561 fis, clone BRTHA3003736, highly similar to TFIIH basal transcription factor complex helicase XPB subunit (EC 3.6.1.-). AK091500 - Homo sapiens cDNA FLJ34181 fis, clone FCBBF3016667, highly similar to TFIIH basal transcription factor complexhelicase XPB subunit (EC 3.6.1.-). LF385242 - JP 2014500723-A/192745: Polycomb-Associated Non-Coding RNAs. M31899 - Human DNA repair helicase (ERCC3) mRNA, complete cds. AK222465 - Homo sapiens mRNA for excision repair cross-complementing rodent repair deficiency, complementation group 3 variant, clone: adKA02463. BC008820 - Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 3 (xeroderma pigmentosum group B complementing), mRNA (cDNA clone MGC:10371 IMAGE:3958781), complete cds. AK126697 - Homo sapiens cDNA FLJ44743 fis, clone BRACE3028214, moderately similar to TFIIH basal transcription factor complex helicase XPB subunit (EC 3.6.1.-). AK095557 - Homo sapiens cDNA FLJ38238 fis, clone FCBBF2005733, highly similar to TFIIH basal transcription factor complexhelicase XPB subunit (EC 3.6.1.-). JD078585 - Sequence 59609 from Patent EP1572962. DM110846 - Novel Cancer Marker and Use Thereof. LF342959 - JP 2014500723-A/150462: Polycomb-Associated Non-Coding RNAs. AK290474 - Homo sapiens cDNA FLJ76102 complete cds, highly similar to Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 3 (xeroderma pigmentosum group B complementing) (ERCC3), mRNA. CQ873777 - Sequence 196 from Patent WO2004076622. DD413614 - Regulation of Mammalian Cells. JD297974 - Sequence 278998 from Patent EP1572962. JD040663 - Sequence 21687 from Patent EP1572962. KJ891119 - Synthetic construct Homo sapiens clone ccsbBroadEn_00513 ERCC3 gene, encodes complete protein. KR710031 - Synthetic construct Homo sapiens clone CCSBHm_00009161 ERCC3 (ERCC3) mRNA, encodes complete protein. KR710032 - Synthetic construct Homo sapiens clone CCSBHm_00009163 ERCC3 (ERCC3) mRNA, encodes complete protein. KR710033 - Synthetic construct Homo sapiens clone CCSBHm_00009165 ERCC3 (ERCC3) mRNA, encodes complete protein. KR710034 - Synthetic construct Homo sapiens clone CCSBHm_00009167 ERCC3 (ERCC3) mRNA, encodes complete protein. DQ893802 - Synthetic construct Homo sapiens clone IMAGE:100008262; FLH164526.01L; RZPDo839H03161D excision repair cross-complementing rodent repair deficiency, complementation group 3 (xeroderma pigmentosum group B complemen> (ERCC3) gene, encodes complete protein. EU176179 - Synthetic construct Homo sapiens clone IMAGE:100006334; FLH164533.01X; RZPDo839G02250D excision repair cross-complementing rodent repair deficiency, complementation group 3 (xeroderma pigmentosum group B complementing) (ERCC3) gene, encodes complete protein. AB384812 - Synthetic construct DNA, clone: pF1KB3481, Homo sapiens ERCC3 gene for TFIIH basal transcription factor complex helicase XPB subunit, complete cds, without stop codon, in Flexi system. LF342958 - JP 2014500723-A/150461: Polycomb-Associated Non-Coding RNAs. LF342956 - JP 2014500723-A/150459: Polycomb-Associated Non-Coding RNAs. AK309405 - Homo sapiens cDNA, FLJ99446. CU679129 - Synthetic construct Homo sapiens gateway clone IMAGE:100020566 5' read ERCC3 mRNA. LF342955 - JP 2014500723-A/150458: Polycomb-Associated Non-Coding RNAs. AK300250 - Homo sapiens cDNA FLJ59006 complete cds, highly similar to TFIIH basal transcription factor complex helicase XPB subunit (EC 3.6.1.-). AK307338 - Homo sapiens cDNA, FLJ97286. LF342954 - JP 2014500723-A/150457: Polycomb-Associated Non-Coding RNAs. LF342953 - JP 2014500723-A/150456: Polycomb-Associated Non-Coding RNAs. LF342951 - JP 2014500723-A/150454: Polycomb-Associated Non-Coding RNAs. LF342950 - JP 2014500723-A/150453: Polycomb-Associated Non-Coding RNAs. LF342948 - JP 2014500723-A/150451: Polycomb-Associated Non-Coding RNAs. LF342947 - JP 2014500723-A/150450: Polycomb-Associated Non-Coding RNAs. JD492958 - Sequence 473982 from Patent EP1572962. JD409060 - Sequence 390084 from Patent EP1572962. MA620819 - JP 2018138019-A/192745: Polycomb-Associated Non-Coding RNAs. MA578536 - JP 2018138019-A/150462: Polycomb-Associated Non-Coding RNAs. MA578535 - JP 2018138019-A/150461: Polycomb-Associated Non-Coding RNAs. MA578533 - JP 2018138019-A/150459: Polycomb-Associated Non-Coding RNAs. MA578532 - JP 2018138019-A/150458: Polycomb-Associated Non-Coding RNAs. MA578531 - JP 2018138019-A/150457: Polycomb-Associated Non-Coding RNAs. MA578530 - JP 2018138019-A/150456: Polycomb-Associated Non-Coding RNAs. MA578528 - JP 2018138019-A/150454: Polycomb-Associated Non-Coding RNAs. MA578527 - JP 2018138019-A/150453: Polycomb-Associated Non-Coding RNAs. MA578525 - JP 2018138019-A/150451: Polycomb-Associated Non-Coding RNAs. MA578524 - JP 2018138019-A/150450: Polycomb-Associated Non-Coding RNAs.
Biochemical and Signaling Pathways
KEGG - Kyoto Encyclopedia of Genes and Genomes hsa03420 - Nucleotide excision repair
Reactome (by CSHL, EBI, and GO)
Protein P19447 (Reactome details) participates in the following event(s):
R-HSA-73758 Recruitment of Active RNA Polymerase I to SL1:phos.UBF-1:rDNA Promoter R-HSA-109639 Formation of the closed pre-initiation complex R-HSA-112379 Recruitment of elongation factors to form elongation complex R-HSA-112383 Hypophosphorylation of RNA Pol II CTD by FCP1P protein R-HSA-167072 Hypophosphorylation of RNA Pol II CTD by FCP1P protein R-HSA-167077 Recruitment of elongation factors to form HIV-1 elongation complex R-HSA-167196 Recruitment of elongation factors to form HIV-1 elongation complex R-HSA-5691000 TFIIH binds GG-NER site to form a verification complex R-HSA-73946 Abortive initiation R-HSA-75856 Abortive Initiation Before Second Transition R-HSA-75891 Abortive Initiation After Second Transition R-HSA-77090 Methylation of GMP-cap by RNA Methyltransferase R-HSA-112385 Addition of nucleotides leads to transcript elongation R-HSA-167181 Addition of nucleotides leads to HIV-1 transcript elongation R-HSA-167468 Abortive HIV-1 Initiation After Second Transition R-HSA-167474 Abortive HIV-1 Initiation Before Second Transition R-HSA-167477 Abortive HIV-1 initiation after formation of the first phosphodiester bond R-HSA-5690988 3'-incision of DNA by ERCC5 (XPG) in GG-NER R-HSA-73769 Loss of Rrn3 from RNA Polymerase I promoter escape complex R-HSA-74994 Polymerase I Transcription Complex/Nascent Pre rRNA Complex pauses at the TTF-I:Sal Box R-HSA-74992 Dissociation of PTRF:Polymerase I/Nascent Pre rRNA Complex:TTF-I:Sal Box R-HSA-75873 Addition of Nucleotides 5 through 9 on the growing Transcript R-HSA-76576 Addition of nucleotides 10 and 11 on the growing transcript: Third Transition R-HSA-111264 Addition of nucleotides between position +11 and +30 R-HSA-77068 Activation of GT R-HSA-77069 RNA Polymerase II CTD (phosphorylated) binds to CE R-HSA-77073 SPT5 subunit of Pol II binds the RNA triphosphatase (RTP) R-HSA-77077 Capping complex formation R-HSA-75864 Newly Formed Phosphodiester Bond Stabilized and PPi Released R-HSA-75866 Nucleophillic Attack by 3'-hydroxyl Oxygen of nascent transcript on the Alpha Phosphate of NTP R-HSA-75949 RNA Polymerase II Promoter Opening: First Transition R-HSA-75862 Fall Back to Closed Pre-initiation Complex R-HSA-75861 NTP Binds Active Site of RNA Polymerase II R-HSA-113430 Extrusion of 5'-end of 30 nt long transcript through the pore in Pol II complex R-HSA-77071 Phosphorylation (Ser5) of RNA pol II CTD R-HSA-167117 Addition of nucleotides 10 and 11 on the growing HIV-1 transcript: Third Transition R-HSA-167136 Addition of nucleotides 5 through 9 on the growing HIV-1 transcript R-HSA-167134 Newly formed phosphodiester bond stabilized and PPi released R-HSA-167098 Phosphorylation (Ser5) of RNA pol II CTD R-HSA-167111 Extrusion of 5'-end of 30 nt long HIV-1 transcript through the pore in Pol II complex R-HSA-167130 Nucleophillic attack by 3'-hydroxyl oxygen of nascent HIV-1 transcript on the Alpha phosphate of NTP R-HSA-167133 Activation of GT R-HSA-167128 RNA Polymerase II CTD (phosphorylated) binds to CE R-HSA-167115 Addition of nucleotides between position +11 and +30 on HIV-1 transcript R-HSA-167153 SPT5 subunit of Pol II binds the RNA triphosphatase (RTP) R-HSA-167097 HIV Promoter Opening: First Transition R-HSA-167484 Fall Back to Closed Pre-initiation Complex R-HSA-167118 NTP binds active site of RNA Polymerase II in HIV-1 open pre-initiation complex R-HSA-5689861 Recruitment of XPA and release of CAK R-HSA-6781840 ERCC6 binds stalled RNA Pol II R-HSA-6782211 DNA polymerases delta, epsilon or kappa bind the TC-NER site R-HSA-6782204 5' incision of damaged DNA strand by ERCC1:ERCC4 in TC-NER R-HSA-6782224 3' incision by ERCC5 (XPG) in TC-NER R-HSA-6782227 Ligation of newly synthesized repair patch to incised DNA in TC-NER R-HSA-6782208 Repair DNA synthesis of ~27-30 bases long patch by POLD, POLE or POLK in TC-NER R-HSA-6797616 CCNK:CDK12 binds RNA Pol II at DNA repair genes R-HSA-5696670 CHD1L is recruited to GG-NER site R-HSA-5690213 DNA polymerases delta, epsilon or kappa bind the GG-NER site R-HSA-6790454 SUMOylation of XPC R-HSA-5690996 ERCC2 and ERCC3 DNA helicases form an open bubble structure in damaged DNA R-HSA-5690990 5'- incision of DNA by ERCC1:ERCC4 in GG-NER R-HSA-6790487 RNF111 ubiquitinates SUMOylated XPC R-HSA-5689317 Formation of the pre-incision complex in GG-NER R-HSA-74993 PTRF Binds the Polymerase I Transcription Complex/Nascent Pre rRNA Complex paused at the TTF-I:Sal Box R-HSA-74986 Elongation of pre-rRNA transcript R-HSA-427366 Transcription of intergenic spacer of the rRNA gene R-HSA-77078 Hydrolysis of the 5'-end of the nascent transcript by the capping enzyme R-HSA-77081 Formation of the CE:GMP intermediate complex R-HSA-77085 Dissociation of transcript with 5'-GMP from GT R-HSA-77083 Transfer of GMP from the capping enzyme GT site to 5'-end of mRNA R-HSA-6781833 ERCC8 (CSA) binds stalled RNA Pol II R-HSA-6797606 CDK12 phosphorylates RNA Pol II CTD at DNA repair genes R-HSA-5690991 Binding of ERCC1:ERCC4 (ERCC1:XPF) to pre-incision complex in GG-NER R-HSA-6781867 ERCC8:DDB1:CUL4:RBX1 ubiquitinates ERCC6 and RNA Pol II R-HSA-6782004 Assembly of the pre-incision complex in TC-NER R-HSA-6782069 UVSSA:USP7 deubiquitinates ERCC6 R-HSA-6782131 RNA Pol II backtracking in TC-NER R-HSA-6782138 ERCC5 and RPA bind TC-NER site R-HSA-6782141 Binding of ERCC1:ERCC4 (ERCC1:XPF) to pre-incision complex in TC-NER R-HSA-73762 RNA Polymerase I Transcription Initiation R-HSA-73779 RNA Polymerase II Transcription Pre-Initiation And Promoter Opening R-HSA-112382 Formation of RNA Pol II elongation complex R-HSA-113418 Formation of the Early Elongation Complex R-HSA-167158 Formation of the HIV-1 Early Elongation Complex R-HSA-167152 Formation of HIV elongation complex in the absence of HIV Tat R-HSA-167200 Formation of HIV-1 elongation complex containing HIV-1 Tat R-HSA-5696395 Formation of Incision Complex in GG-NER R-HSA-6781823 Formation of TC-NER Pre-Incision Complex R-HSA-674695 RNA Polymerase II Pre-transcription Events R-HSA-72086 mRNA Capping R-HSA-75955 RNA Polymerase II Transcription Elongation R-HSA-167246 Tat-mediated elongation of the HIV-1 transcript R-HSA-167162 RNA Polymerase II HIV Promoter Escape R-HSA-167161 HIV Transcription Initiation R-HSA-6781827 Transcription-Coupled Nucleotide Excision Repair (TC-NER) R-HSA-5696400 Dual Incision in GG-NER R-HSA-73772 RNA Polymerase I Promoter Escape R-HSA-73863 RNA Polymerase I Transcription Termination R-HSA-73776 RNA Polymerase II Promoter Escape R-HSA-77075 RNA Pol II CTD phosphorylation and interaction with CE R-HSA-75953 RNA Polymerase II Transcription Initiation R-HSA-76042 RNA Polymerase II Transcription Initiation And Promoter Clearance R-HSA-167160 RNA Pol II CTD phosphorylation and interaction with CE during HIV infection R-HSA-167172 Transcription of the HIV genome R-HSA-6782135 Dual incision in TC-NER R-HSA-6782210 Gap-filling DNA repair synthesis and ligation in TC-NER R-HSA-6796648 TP53 Regulates Transcription of DNA Repair Genes R-HSA-73854 RNA Polymerase I Promoter Clearance R-HSA-73857 RNA Polymerase II Transcription R-HSA-167169 HIV Transcription Elongation R-HSA-5696399 Global Genome Nucleotide Excision Repair (GG-NER) R-HSA-8953854 Metabolism of RNA R-HSA-5696398 Nucleotide Excision Repair R-HSA-73864 RNA Polymerase I Transcription R-HSA-73777 RNA Polymerase I Chain Elongation R-HSA-427413 NoRC negatively regulates rRNA expression R-HSA-162599 Late Phase of HIV Life Cycle R-HSA-3700989 Transcriptional Regulation by TP53 R-HSA-74160 Gene expression (Transcription) R-HSA-73894 DNA Repair R-HSA-5250941 Negative epigenetic regulation of rRNA expression R-HSA-162587 HIV Life Cycle R-HSA-212436 Generic Transcription Pathway R-HSA-212165 Epigenetic regulation of gene expression R-HSA-162906 HIV Infection R-HSA-5663205 Infectious disease R-HSA-1643685 Disease
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
