P23025 (XPA_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 146.
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: DNA repair protein complementing XP-A cells Alternative name(s): Xeroderma pigmentosum group A-complementing protein | ||||
| Gene names |
| ||||
| Organism | Homo sapiens (Human) [Reference proteome] | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo![]() |
Protein attributes
| Sequence length | 273 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | Involved in DNA excision repair. Initiates repair by binding to damaged sites with various affinities, depending on the photoproduct and the transcriptional state of the region. Required for UV-induced CHEK1 phosphorylation and the recruitment of CEP164 to cyclobutane pyrimidine dimmers (CPD), sites of DNA damage after UV irradiation. Ref.13 |
| Subunit structure | Interacts with GPN1 and RPA1. Interacts (via N-terminus) with CEP164 upon UV irradiation. Interacts with HERC2. Ref.13 Ref.14 Ref.15 Ref.16 |
| Subcellular location | |
| Tissue specificity | Expressed in various cell lines and in skin fibroblasts. Ref.8 Ref.9 |
| Post-translational modification | Phosphorylated upon DNA damage, probably by ATM or ATR. Ubiquitinated by HERC2 leading to degradation by the proteasome. Ref.14 |
| Involvement in disease | Xeroderma pigmentosum complementation group A (XP-A) [MIM:278700]: 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. The skin develops marked freckling and other pigmentation abnormalities. XP-A patients show the most severe skin symptoms and progressive neurological disorders. |
| Sequence similarities | Belongs to the XPA family. |
Ontologies
Binary interactions
With | Entry | #Exp. | IntAct | Notes |
|---|---|---|---|---|
| RPA2 | P15927 | 3 | EBI-295222,EBI-621404 | |
| SIRT1 | Q96EB6 | 8 | EBI-295222,EBI-1802965 | |
| XAB2 | Q9HCS7 | 2 | EBI-295222,EBI-295232 |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||||||||||||||||||||||||||||||||
Molecule processing | |||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 273 | 273 | DNA repair protein complementing XP-A cells | PRO_0000208648 | |||||||||||||||||||||||||||||||||||
Regions | |||||||||||||||||||||||||||||||||||||||
| Zinc finger | 105 – 129 | 25 | |||||||||||||||||||||||||||||||||||||
| Region | 4 – 97 | 94 | Interaction with CEP164 and required for UV resistance | ||||||||||||||||||||||||||||||||||||
| Motif | 26 – 47 | 22 | Nuclear localization signal Potential | ||||||||||||||||||||||||||||||||||||
| Compositional bias | 78 – 84 | 7 | Poly-Glu | ||||||||||||||||||||||||||||||||||||
Natural variations | |||||||||||||||||||||||||||||||||||||||
| Natural variant | 78 | 1 | Missing. Ref.3 | VAR_014203 | |||||||||||||||||||||||||||||||||||
| Natural variant | 94 | 1 | P → L in XP-A. | VAR_007727 | |||||||||||||||||||||||||||||||||||
| Natural variant | 97 | 1 | V → I. Corresponds to variant rs10983315 [ dbSNP | Ensembl ]. | VAR_037907 | |||||||||||||||||||||||||||||||||||
| Natural variant | 108 | 1 | C → F in XP-A; severe form. Ref.17 Ref.19 | VAR_007728 | |||||||||||||||||||||||||||||||||||
| Natural variant | 130 | 1 | R → K in XP-A. | VAR_007729 | |||||||||||||||||||||||||||||||||||
| Natural variant | 185 | 1 | Q → H in XP-A. | VAR_007730 | |||||||||||||||||||||||||||||||||||
| Natural variant | 228 | 1 | R → Q. Corresponds to variant rs1805160 [ dbSNP | Ensembl ]. | VAR_014799 | |||||||||||||||||||||||||||||||||||
| Natural variant | 234 | 1 | V → L. Corresponds to variant rs3176749 [ dbSNP | Ensembl ]. | VAR_029325 | |||||||||||||||||||||||||||||||||||
| Natural variant | 244 | 1 | H → R in XP-A; mild form. Ref.18 | VAR_007731 | |||||||||||||||||||||||||||||||||||
| Natural variant | 252 | 1 | L → V. Corresponds to variant rs3176750 [ dbSNP | Ensembl ]. | VAR_020324 | |||||||||||||||||||||||||||||||||||
| Natural variant | 256 | 1 | M → V. Corresponds to variant rs57519506 [ dbSNP | Ensembl ]. | VAR_061987 | |||||||||||||||||||||||||||||||||||
Secondary structure | |||||||||||||||||||||||||||||||||||||||
Helix Strand Turn | |||||||||||||||||||||||||||||||||||||||
| Beta strand | 72 – 75 | 4 | |||||||||||||||||||||||||||||||||||||
| Turn | 106 – 108 | 3 | |||||||||||||||||||||||||||||||||||||
| Beta strand | 111 – 113 | 3 | |||||||||||||||||||||||||||||||||||||
| Beta strand | 115 – 117 | 3 | |||||||||||||||||||||||||||||||||||||
| Turn | 118 – 121 | 4 | |||||||||||||||||||||||||||||||||||||
| Turn | 127 – 129 | 3 | |||||||||||||||||||||||||||||||||||||
| Beta strand | 131 – 135 | 5 | |||||||||||||||||||||||||||||||||||||
| Helix | 141 – 144 | 4 | |||||||||||||||||||||||||||||||||||||
| Turn | 145 – 149 | 5 | |||||||||||||||||||||||||||||||||||||
| Beta strand | 152 – 154 | 3 | |||||||||||||||||||||||||||||||||||||
| Turn | 155 – 157 | 3 | |||||||||||||||||||||||||||||||||||||
| Beta strand | 158 – 160 | 3 | |||||||||||||||||||||||||||||||||||||
| Beta strand | 164 – 168 | 5 | |||||||||||||||||||||||||||||||||||||
| Beta strand | 170 – 172 | 3 | |||||||||||||||||||||||||||||||||||||
| Beta strand | 179 – 181 | 3 | |||||||||||||||||||||||||||||||||||||
| Helix | 183 – 193 | 11 | |||||||||||||||||||||||||||||||||||||
| Helix | 197 – 206 | 10 | |||||||||||||||||||||||||||||||||||||
Sequences
| ||||||||||||||||||
References
| « Hide 'large scale' references | |
| [1] | "Analysis of a human DNA excision repair gene involved in group A Xeroderma pigmentosum and containing a zinc-finger domain." Tanaka K., Miura N., Satokata I., Miyamoto I., Yoshida M.C., Satoh Y., Kondo S., Yasui A., Okayama H., Okada Y. Nature 348:73-76(1990) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. Tissue: Fibroblast. |
| [2] | "Cloning of human full-length CDSs in BD Creator(TM) system donor vector." Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A. Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. |
| [3] | NIEHS SNPs program Submitted (APR-2002) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT GLU-78 DEL. |
| [4] | "DNA sequence and analysis of human chromosome 9." Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L. Dunham I.Nature 429:369-374(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [5] | 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]. |
| [6] | "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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: B-cell. |
| [7] | "Genomic characterization of the human DNA excision repair-controlling gene XPAC." Satokata I., Iwai K., Matsuda T., Okada Y., Tanaka K. Gene 136:345-348(1993) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-57. Tissue: Spermatocyte. |
| [8] | "Characterization of the human XPA promoter." Topping R.S., Myrand S.P., Williams B.L., Albert J.C., States J.C. Gene 166:341-342(1995) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 59-273, TISSUE SPECIFICITY. Tissue: Placenta. |
| [9] | "Identification and characterization of xpac protein, the gene product of the human XPAC (Xeroderma pigmentosum group A complementing) gene." Miura N., Miyamoto I., Asahina H., Satokata I., Tanaka K., Okada Y. J. Biol. Chem. 266:19786-19789(1991) [PubMed] [Europe PMC] [Abstract] Cited for: SUBCELLULAR LOCATION, TISSUE SPECIFICITY. |
| [10] | "Mutational analysis of the structure and function of the Xeroderma pigmentosum group A complementing protein. Identification of essential domains for nuclear localization and DNA excision repair." Miyamoto I., Miura N., Niwa H., Miyazaki J., Tanaka K. J. Biol. Chem. 267:12182-12187(1992) [PubMed] [Europe PMC] [Abstract] Cited for: MUTAGENESIS. |
| [11] | "Molecular analysis of Xeroderma pigmentosum group A gene." Tanaka K. Jpn. J. Hum. Genet. 38:1-14(1993) [PubMed] [Europe PMC] [Abstract] Cited for: REVIEW ON VARIANTS XP-A. |
| [12] | "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] [Europe PMC] [Abstract] Cited for: REVIEW ON VARIANTS XP-A. |
| [13] | "UV-dependent interaction between Cep164 and XPA mediates localization of Cep164 at sites of DNA damage and UV sensitivity." Pan Y.R., Lee E.Y. Cell Cycle 8:655-664(2009) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION, INTERACTION WITH CEP164, SUBCELLULAR LOCATION. |
| [14] | "Circadian control of XPA and excision repair of cisplatin-DNA damage by cryptochrome and HERC2 ubiquitin ligase." Kang T.H., Lindsey-Boltz L.A., Reardon J.T., Sancar A. Proc. Natl. Acad. Sci. U.S.A. 107:4890-4895(2010) [PubMed] [Europe PMC] [Abstract] Cited for: UBIQUITINATION, SUBCELLULAR LOCATION, INTERACTION WITH HERC2. Tissue: Embryonic kidney and Lung adenocarcinoma. |
| [15] | "Solution structure of the DNA- and RPA-binding domain of the human repair factor XPA." Ikegami T., Kuraoka I., Saijo M., Kodo N., Kyogoku Y., Morikawa K., Tanaka K., Shirakawa M. Nat. Struct. Biol. 5:701-706(1998) [PubMed] [Europe PMC] [Abstract] Cited for: STRUCTURE BY NMR OF 98-219, DNA-BINDING, INTERACTION WITH RPA1. |
| [16] | "Interactions of human nucleotide excision repair protein XPA with DNA and RPA70 Delta C327: chemical shift mapping and 15N NMR relaxation studies." Buchko G.W., Daughdrill G.W., de Lorimier R., Sudha Rao B.K., Isern N.G., Lingbeck J.M., Taylor J.-S., Wold M.S., Gochin M., Spicer L.D., Lowry D.F., Kennedy M.A. Biochemistry 38:15116-15128(1999) [PubMed] [Europe PMC] [Abstract] Cited for: STRUCTURE BY NMR OF 98-208, DNA-BINDING, INTERACTION WITH RPA1. |
| [17] | "Molecular basis of group A Xeroderma pigmentosum: a missense mutation and two deletions located in a zinc finger consensus sequence of the XPAC gene." Satokata I., Tanaka K., Okada Y. Hum. Genet. 88:603-607(1992) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT XP-A PHE-108. |
| [18] | "Identification of splicing mutations of the last nucleotides of exons, a nonsense mutation, and a missense mutation of the XPAC gene as causes of group A Xeroderma pigmentosum." Satokata I., Tanaka K., Yuba S., Okada Y. Mutat. Res. 273:203-212(1992) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT XP-A ARG-244. |
| [19] | "Distribution of mutations in the human Xeroderma pigmentosum group A gene and their relationships to the functional regions of the DNA damage recognition protein." States J.C., McDuffie E.R., Myrand S.P., McDowell M., Cleaver J.E. Hum. Mutat. 12:103-113(1998) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT XP-A PHE-108. |
| + | Additional computationally mapped references. |
Web resources
| Allelic variations of the XP genes |
| Atlas of Genetics and Cytogenetics in Oncology and Haematology |
| GeneReviews |
| NIEHS-SNPs |
| Protein Spotlight Nature's flaws - Issue 142 of September 2012 |
Cross-references
Sequence databases | |||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| EMBL GenBank DDBJ | D14533 mRNA. Translation: BAA03403.1. BT019518 mRNA. Translation: AAV38325.1. AF503166 Genomic DNA. Translation: AAM18969.1. AL445531 Genomic DNA. Translation: CAI15428.1. CH471105 Genomic DNA. Translation: EAW58855.1. BC014965 mRNA. Translation: AAH14965.1. U16815 Genomic DNA. Translation: AAB60404.1. U10347 U10346 Genomic DNA. Translation: AAA92883.1. | ||||||||||||||||||||||||
| IPI | IPI00009694. | ||||||||||||||||||||||||
| PIR | I38886. JG0190. | ||||||||||||||||||||||||
| RefSeq | NP_000371.1. NM_000380.3. | ||||||||||||||||||||||||
| UniGene | Hs.654364. | ||||||||||||||||||||||||
3D structure databases | |||||||||||||||||||||||||
| PDBe RCSB PDB PDBj |
| ||||||||||||||||||||||||
| DisProt | DP00243. | ||||||||||||||||||||||||
| ProteinModelPortal | P23025. | ||||||||||||||||||||||||
| ModBase | Search... | ||||||||||||||||||||||||
Protein-protein interaction databases | |||||||||||||||||||||||||
| DIP | DIP-24191N. | ||||||||||||||||||||||||
| IntAct | P23025. 8 interactions. | ||||||||||||||||||||||||
| STRING | 9606.ENSP00000364270. | ||||||||||||||||||||||||
PTM databases | |||||||||||||||||||||||||
| PhosphoSite | P23025. | ||||||||||||||||||||||||
Polymorphism databases | |||||||||||||||||||||||||
| DMDM | 139816. | ||||||||||||||||||||||||
Proteomic databases | |||||||||||||||||||||||||
| PaxDb | P23025. | ||||||||||||||||||||||||
| PRIDE | P23025. | ||||||||||||||||||||||||
Protocols and materials databases | |||||||||||||||||||||||||
| DNASU | 7507. | ||||||||||||||||||||||||
| StructuralBiologyKnowledgebase | Search... | ||||||||||||||||||||||||
Genome annotation databases | |||||||||||||||||||||||||
| Ensembl | ENST00000375128; ENSP00000364270; ENSG00000136936. | ||||||||||||||||||||||||
| GeneID | 7507. | ||||||||||||||||||||||||
| KEGG | hsa:7507. | ||||||||||||||||||||||||
| UCSC | uc004axr.4. human. | ||||||||||||||||||||||||
Organism-specific databases | |||||||||||||||||||||||||
| CTD | 7507. | ||||||||||||||||||||||||
| GeneCards | GC09M100437. | ||||||||||||||||||||||||
| HGNC | HGNC:12814. XPA. | ||||||||||||||||||||||||
| HPA | CAB000155. | ||||||||||||||||||||||||
| MIM | 278700. phenotype. 611153. gene. | ||||||||||||||||||||||||
| neXtProt | NX_P23025. | ||||||||||||||||||||||||
| Orphanet | 276249. Xeroderma pigmentosum complementation group A. | ||||||||||||||||||||||||
| PharmGKB | PA368. | ||||||||||||||||||||||||
| GenAtlas | Search... | ||||||||||||||||||||||||
Phylogenomic databases | |||||||||||||||||||||||||
| eggNOG | COG5145. | ||||||||||||||||||||||||
| HOGENOM | HOG000045820. | ||||||||||||||||||||||||
| HOVERGEN | HBG009053. | ||||||||||||||||||||||||
| InParanoid | P23025. | ||||||||||||||||||||||||
| KO | K10847. | ||||||||||||||||||||||||
| OMA | GFFLEEE. | ||||||||||||||||||||||||
| OrthoDB | EOG4G7C06. | ||||||||||||||||||||||||
| PhylomeDB | P23025. | ||||||||||||||||||||||||
Enzyme and pathway databases | |||||||||||||||||||||||||
| Reactome | REACT_216. DNA Repair. | ||||||||||||||||||||||||
Gene expression databases | |||||||||||||||||||||||||
| ArrayExpress | P23025. | ||||||||||||||||||||||||
| Bgee | P23025. | ||||||||||||||||||||||||
| CleanEx | HS_XPA. | ||||||||||||||||||||||||
| Genevestigator | P23025. | ||||||||||||||||||||||||
| GermOnline | ENSG00000136936. Homo sapiens. | ||||||||||||||||||||||||
Family and domain databases | |||||||||||||||||||||||||
| InterPro | IPR009061. DNA-bd_dom_put. IPR000465. XPA. IPR022656. XPA_C. IPR022658. XPA_CS. IPR022652. Znf_XPA_CS. [Graphical view] | ||||||||||||||||||||||||
| PANTHER | PTHR10142. PTHR10142. 1 hit. | ||||||||||||||||||||||||
| Pfam | PF05181. XPA_C. 1 hit. PF01286. XPA_N. 1 hit. [Graphical view] | ||||||||||||||||||||||||
| SUPFAM | SSF46955. Putativ_DNA_bind. 1 hit. | ||||||||||||||||||||||||
| TIGRFAMs | TIGR00598. rad14. 1 hit. | ||||||||||||||||||||||||
| PROSITE | PS00752. XPA_1. 1 hit. PS00753. XPA_2. 1 hit. [Graphical view] | ||||||||||||||||||||||||
| ProtoNet | Search... | ||||||||||||||||||||||||
Other | |||||||||||||||||||||||||
| EvolutionaryTrace | P23025. | ||||||||||||||||||||||||
| GenomeRNAi | 7507. | ||||||||||||||||||||||||
| NextBio | 29387. | ||||||||||||||||||||||||
| SOURCE | Search... | ||||||||||||||||||||||||
Entry information
| Entry name | XPA_HUMAN | ||||||||
| Accession | Primary (citable) accession number: P23025 Secondary accession number(s): Q5T1U9, Q6LCW7, Q6LD02 | ||||||||
| Entry history |
| ||||||||
| 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 9 Human chromosome 9: 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 |
| PDB cross-references Index of Protein Data Bank (PDB) cross-references |
| SIMILARITY comments Index of protein domains and families |
| Protein Spotlight Protein Spotlight articles and cited UniProtKB/Swiss-Prot entries |

Clusters with
