P19447 (ERCC3_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
January 25, 2012.
Version 143.
History...
Names·Attributes·General annotation·Ontologies·Interactions·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Interactions·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: TFIIH basal transcription factor complex helicase XPB subunit EC=3.6.4.12 Alternative name(s): Basic transcription factor 2 89 kDa subunit Short name=BTF2 p89 DNA excision repair protein ERCC-3 DNA repair protein complementing XP-B cells TFIIH basal transcription factor complex 89 kDa subunit Short name=TFIIH 89 kDa subunit Short name=TFIIH p89 Xeroderma pigmentosum group B-complementing protein | ||||
| Gene names |
| ||||
| Organism | Homo sapiens (Human) | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 782 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| 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. Ref.11 |
| Catalytic activity | ATP + H2O = ADP + phosphate. |
| Subunit structure | 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. Ref.9 Ref.12 Ref.13 Ref.16 |
| Subcellular location | |
| Involvement in 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. Ref.17 Ref.20 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. Ref.18 |
| Sequence similarities | Belongs to the helicase family. RAD25/XPB subfamily. Contains 1 helicase ATP-binding domain. Contains 1 helicase C-terminal domain. |
Ontologies
Binary interactions
With | Entry | #Exp. | IntAct | Notes |
|---|---|---|---|---|
| PSMC5 | P62195 | 4 | EBI-1183307,EBI-357745 | |
| Psmc5 | P62196 | 6 | EBI-1183307,EBI-357713 | From a different organism. |
| RAD23B | P54727 | 2 | EBI-1183307,EBI-954531 | |
| XPC | Q01831 | 2 | EBI-1183307,EBI-372610 |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 782 | 782 | TFIIH basal transcription factor complex helicase XPB subunit | PRO_0000101987 | |||||
Regions | |||||||||
| Domain | 327 – 488 | 162 | Helicase ATP-binding | ||||||
| Domain | 542 – 702 | 161 | Helicase C-terminal | ||||||
| Nucleotide binding | 340 – 347 | 8 | ATP By similarity | ||||||
| Motif | 6 – 18 | 13 | Nuclear localization signal Potential | ||||||
| Motif | 441 – 444 | 4 | DEVH box | ||||||
| Compositional bias | 20 – 28 | 9 | Asp/Glu-rich (acidic) | ||||||
| Compositional bias | 256 – 265 | 10 | Asp/Glu-rich (acidic) | ||||||
| Compositional bias | 697 – 700 | 4 | Asp/Glu-rich (acidic) | ||||||
| Compositional bias | 721 – 728 | 8 | Asp/Glu-rich (acidic) | ||||||
Amino acid modifications | |||||||||
| Modified residue | 370 | 1 | Phosphoserine Ref.15 | ||||||
Natural variations | |||||||||
| Natural variant | 99 | 1 | F → S in XP-B; combined with features of Cockayne syndrome; mild. Ref.17 Ref.20 | VAR_003632 | |||||
| Natural variant | 117 | 1 | K → R. Ref.19 Corresponds to variant rs1805161 [ dbSNP | Ensembl ]. | VAR_014766 | |||||
| Natural variant | 119 | 1 | T → P in TTDP; mild. Ref.18 | VAR_008186 | |||||
| Natural variant | 402 | 1 | G → C. Ref.19 Corresponds to variant rs1805162 [ dbSNP | Ensembl ]. | VAR_014767 | |||||
| Natural variant | 418 | 1 | K → Q in a breast cancer sample; somatic mutation. Ref.21 | VAR_035942 | |||||
| Natural variant | 704 | 1 | S → L. Ref.4 Corresponds to variant rs4150521 [ dbSNP | Ensembl ]. | VAR_017294 | |||||
| Natural variant | 735 | 1 | S → P. Ref.4 Corresponds to variant rs4150522 [ dbSNP | Ensembl ]. | VAR_014344 | |||||
Experimental info | |||||||||
| Mutagenesis | 346 | 1 | K → R: No transcriptional activity of the reconstituted TFIIH complex. Ref.11 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Molecular cloning and biological characterization of the human excision repair gene ERCC-3." Weeda G., van Ham R.C.A., Masurel R., Westerveld A., Odijk H., de Wit J., Bootsma D., van der Eb A.J., Hoeijmakers J.H.J. Mol. Cell. Biol. 10:2570-2581(1990) [PubMed: 2111438] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. |
| [2] | "A presumed DNA helicase encoded by ERCC-3 is involved in the human repair disorders Xeroderma pigmentosum and Cockayne's syndrome." Weeda G., van Ham R.C.A., Vermeulen W., Bootsma D., van der Eb A.J., Hoeijmakers J.H.J. Cell 62:777-791(1990) [PubMed: 2167179] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. |
| [3] | "Structure and expression of the human XPBC/ERCC-3 gene involved in DNA repair disorders xeroderma pigmentosum and Cockayne's syndrome." Weeda G., Ma L., van Ham R.C.A., van der Eb A.J., Hoeijmakers J.H.J. Nucleic Acids Res. 19:6301-6308(1991) [PubMed: 1956789] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]. |
| [4] | NIEHS SNPs program Submitted (OCT-2002) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS LEU-704 AND PRO-735. |
| [5] | "Generation and annotation of the DNA sequences of human chromosomes 2 and 4." Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H. Wilson R.K.Nature 434:724-731(2005) [PubMed: 15815621] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [6] | Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. Venter J.C.Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [7] | "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Placenta. |
| [8] | "Correction of xeroderma pigmentosum repair defect by basal transcription factor BTF2 (TFIIH)." van Vuuren A.J., Vermeulen W., Ma L., Weeda G., Appeldoorn E., Jaspers N.G.J., van der Eb A.J., Bootsma D., Hoeijmakers J.H.J., Humbert S., Schaeffer L., Egly J.-M. EMBO J. 13:1645-1653(1994) [PubMed: 8157004] [Abstract] Cited for: INVOLVEMENT IN TRANSCRIPTION. |
| [9] | "The 62- and 80-kDa subunits of transcription factor IIH mediate the interaction with Epstein-Barr virus nuclear protein 2." Tong X., Drapkin R., Reinberg D., Kieff E. Proc. Natl. Acad. Sci. U.S.A. 92:3259-3263(1995) [PubMed: 7724549] [Abstract] Cited for: INTERACTION WITH EBV EBNA2. |
| [10] | "Immunoaffinity purification and functional characterization of human transcription factor IIH and RNA polymerase II from clonal cell lines that conditionally express epitope-tagged subunits of the multiprotein complexes." Kershnar E., Wu S.-Y., Chiang C.-M. J. Biol. Chem. 273:34444-34453(1998) [PubMed: 9852112] [Abstract] Cited for: IDENTIFICATION IN THE TFIIH BASAL TRANSCRIPTION FACTOR. |
| [11] | "Reconstitution of the transcription factor TFIIH: assignment of functions for the three enzymatic subunits, XPB, XPD, and cdk7." Tirode F., Busso D., Coin F., Egly J.-M. Mol. Cell 3:87-95(1999) [PubMed: 10024882] [Abstract] Cited for: MUTAGENESIS OF LYS-346, FUNCTION. |
| [12] | "The FBP interacting repressor targets TFIIH to inhibit activated transcription." Liu J., He L., Collins I., Ge H., Libutti D., Li J., Egly J.-M., Levens D. Mol. Cell 5:331-341(2000) [PubMed: 10882074] [Abstract] Cited for: INTERACTION WITH PUF60. |
| [13] | "Defective interplay of activators and repressors with TFIH in xeroderma pigmentosum." Liu J., Akoulitchev S., Weber A., Ge H., Chuikov S., Libutti D., Wang X.W., Conaway J.W., Harris C.C., Conaway R.C., Reinberg D., Levens D. Cell 104:353-363(2001) [PubMed: 11239393] [Abstract] Cited for: INTERACTION WITH PUF60. |
| [14] | "A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy." Cleaver J.E., Thompson L.H., Richardson A.S., States J.C. Hum. Mutat. 14:9-22(1999) [PubMed: 10447254] [Abstract] Cited for: REVIEW ON VARIANTS XP-B. |
| [15] | "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks." Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M. Cell 127:635-648(2006) [PubMed: 17081983] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-370, MASS SPECTROMETRY. Tissue: Cervix carcinoma. |
| [16] | "MCAF1/AM is involved in Sp1-mediated maintenance of cancer-associated telomerase activity." Liu L., Ishihara K., Ichimura T., Fujita N., Hino S., Tomita S., Watanabe S., Saitoh N., Ito T., Nakao M. J. Biol. Chem. 284:5165-5174(2009) [PubMed: 19106100] [Abstract] Cited for: INTERACTION WITH ATF7IP. |
| [17] | "Clinical heterogeneity within xeroderma pigmentosum associated with mutations in the DNA repair and transcription gene ERCC3." Vermeulen W., Scott R.J., Rodgers S., Mueller H.J., Cole J., Arlett C.F., Kleijer W.J., Bootsma D., Hoeijmakers J.H.J., Weeda G. Am. J. Hum. Genet. 54:191-200(1994) [PubMed: 8304337] [Abstract] Cited for: VARIANT XP-B SER-99. |
| [18] | "A mutation in the XPB/ERCC3 DNA repair transcription gene, associated with trichothiodystrophy." Weeda G., Eveno E., Donker I., Vermeulen W., Chevallier-Lagente O., Taieb A., Stary A., Hoeijmakers J.H.J., Mezzina M., Sarasin A. Am. J. Hum. Genet. 60:320-329(1997) [PubMed: 9012405] [Abstract] Cited for: VARIANT TTDP PRO-119. |
| [19] | "Identification of four single nucleotide polymorphisms in DNA repair genes: XPA and XPB (ERCC3) in Polish population." Butkiewicz D., Rusin M., Harris C.C., Chorazy M. Hum. Mutat. 15:577-578(2000) [PubMed: 10862089] [Abstract] Cited for: VARIANTS ARG-117 AND CYS-402. |
| [20] | "Phenotypic heterogeneity in the XPB DNA helicase gene (ERCC3): xeroderma pigmentosum without and with Cockayne syndrome." Oh K.-S., Khan S.G., Jaspers N.G.J., Raams A., Ueda T., Lehmann A., Friedmann P.S., Emmert S., Gratchev A., Lachlan K., Lucassan A., Baker C.C., Kraemer K.H. Hum. Mutat. 27:1092-1103(2006) [PubMed: 16947863] [Abstract] Cited for: VARIANT XP-B SER-99. |
| [21] | "The consensus coding sequences of human breast and colorectal cancers." Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. Velculescu V.E.Science 314:268-274(2006) [PubMed: 16959974] [Abstract] Cited for: VARIANT [LARGE SCALE ANALYSIS] GLN-418. |
| + | Additional computationally mapped references. |
Web resources
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | M31899 mRNA. Translation: AAA52396.1. AY163769 Genomic DNA. Translation: AAN46739.1. AC110926 Genomic DNA. Translation: AAY15069.1. CH471103 Genomic DNA. Translation: EAW95313.1. BC008820 mRNA. Translation: AAH08820.1. |
| IPI | IPI00747053. |
| PIR | A35661. |
| RefSeq | NP_000113.1. NM_000122.1. |
| UniGene | Hs.469872. |
3D structure databases | |
| ProteinModelPortal | P19447. |
| SMR | P19447. Positions 277-667. |
| ModBase | Search... |
Protein-protein interaction databases | |
| DIP | DIP-83N. |
| IntAct | P19447. 11 interactions. |
| STRING | P19447. |
PTM databases | |
| PhosphoSite | P19447. |
Polymorphism databases | |
| DMDM | 119541. |
Proteomic databases | |
| PRIDE | P19447. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000285398; ENSP00000285398; ENSG00000163161. |
| GeneID | 2071. |
| KEGG | hsa:2071. |
| UCSC | uc002toh.1. human. |
Organism-specific databases | |
| CTD | 2071. |
| GeneCards | GC02M128014. |
| H-InvDB | HIX0002431. |
| HGNC | HGNC:3435. ERCC3. |
| HPA | CAB037153. |
| MIM | 133510. gene. 601675. phenotype. 610651. phenotype. |
| neXtProt | NX_P19447. |
| Orphanet | 453. IBIDS syndrome. 670. PIBIDS syndrome. 910. Xeroderma pigmentosum. 220295. Xeroderma pigmentosum/Cockayne syndrome complex. |
| PharmGKB | PA27849. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | prNOG19222. |
| HOGENOM | HBG314410. |
| HOVERGEN | HBG051499. |
| InParanoid | P19447. |
| OMA | KLCTVSY. |
| OrthoDB | EOG4KD6KG. |
| PhylomeDB | P19447. |
Enzyme and pathway databases | |
| Reactome | REACT_1675. mRNA Processing. REACT_1788. Transcription. REACT_216. DNA Repair. REACT_6185. HIV Infection. REACT_71. Gene Expression. |
Gene expression databases | |
| ArrayExpress | P19447. |
| Bgee | P19447. |
| CleanEx | HS_ERCC3. |
| Genevestigator | P19447. |
| GermOnline | ENSG00000163161. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR014001. DEAD-like_helicase. IPR006935. Helicase/UvrB_dom. IPR001650. Helicase_C. IPR001161. XPGB_DNA_repair. [Graphical view] |
| KO | K10843. |
| Pfam | PF00271. Helicase_C. 1 hit. PF04851. ResIII. 1 hit. [Graphical view] |
| PRINTS | PR00851. XRODRMPGMNTB. |
| SMART | SM00487. DEXDc. 1 hit. SM00490. HELICc. 1 hit. [Graphical view] |
| TIGRFAMs | TIGR00603. Rad25. 1 hit. |
| PROSITE | PS51192. HELICASE_ATP_BIND_1. 1 hit. PS51194. HELICASE_CTER. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| NextBio | 8425. |
| SOURCE | Search... |
Entry information
| Entry name | ERCC3_HUMAN | ||||||||
| Accession | Primary (citable) accession number: P19447 Secondary accession number(s): Q53QM0 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
| Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. | ||||||||
Relevant documents
| Human chromosome 2 Human chromosome 2: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with