Reviewed,
UniProtKB/Swiss-Prot P23025 (XPA_HUMAN)
Last modified
November 3, 2009.
Version 111.
History...
Clusters with 100%,
90%,
50% identity |
Documents (6) |
Third-party data |
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Names 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) [Complete 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. |
| Sequence processing | The displayed sequence is not processed. |
| 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 CHK1 phosphorylation and the recruitment of CEP164 to cyclobutane pyrimidine dimmers (CPD), sites of DNA damage after UV irradiation. Ref.14 |
| Subunit structure | Interacts with XAB1 and RPA1. Interacts (via N-terminus) with CEP164 upon UV irradiation. Ref.14 Ref.15 Ref.16 |
| Subcellular location | |
| Tissue specificity | Expressed in various cell lines and in skin fibroblasts. Ref.9 Ref.8 |
| Post-translational modification | Phosphorylated upon DNA damage, probably by ATM or ATR. Ref.13 |
| Involvement in disease | Defects in XPA are a cause of xeroderma pigmentosum complementation group A (XP-A) [MIM:278700]; also known as xeroderma pigmentosum type 1 (XP1). XP-A is a rare human autosomal recessive disease characterized by solar sensitivity, high predisposition for developing cancers on areas exposed to sunlight and, in some cases, neurological abnormalities. Group A patients show the most severe skin symptoms and progressive neurological disorders. Ref.17 Ref.18 Ref.19 |
| Sequence similarities | Belongs to the XPA family. |
Ontologies
| Keywords | |
|---|---|
| Biological process | DNA damage DNA repair |
| Cellular component | Nucleus |
| Coding sequence diversity | Polymorphism |
| Disease | Disease mutation Xeroderma pigmentosum |
| Domain | Zinc-finger |
| Ligand | DNA-binding Metal-binding Zinc |
| PTM | Phosphoprotein |
| Technical term | 3D-structure Complete proteome |
| Gene Ontology (GO) | |
| Biological process | nucleotide-excision repair, DNA damage removal Inferred from Experiment. Source: Reactome |
| Cellular component | nucleoplasm Inferred from Experiment. Source: Reactome |
| Molecular function | damaged DNA binding Traceable author statement. Source: ProtInc nucleotide bindingInferred from electronic annotation. Source: InterPro protein domain specific bindingInferred from physical interaction. Source: UniProtKB protein homodimerization activityInferred from physical interaction. Source: UniProtKB zinc ion bindingInferred from electronic annotation. Source: UniProtKB-KW |
| Complete GO annotation... | |
Binary interactions
With | Entry | #Exp. | IntAct | Notes |
|---|---|---|---|---|
| GPN1 | Q9HCN4 | 2 | EBI-295222,EBI-745137 | |
| XAB2 | Q9HCS7 | 1 | 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 | |||||||||||||||||||||||||||||||||
Amino acid modifications | ||||||||||||||||||||||||||||||||||||
| Modified residue | 196 | 1 | Phosphoserine Ref.13 | |||||||||||||||||||||||||||||||||
Natural variations | ||||||||||||||||||||||||||||||||||||
| Natural variant | 78 | 1 | Missing | VAR_014203 | ||||||||||||||||||||||||||||||||
| Natural variant | 94 | 1 | P → L in XP-A. | VAR_007727 | ||||||||||||||||||||||||||||||||
| Natural variant | 97 | 1 | V → I: dbSNP rs10983315. | 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: dbSNP rs1805160. | VAR_014799 | ||||||||||||||||||||||||||||||||
| Natural variant | 234 | 1 | V → L: dbSNP rs3176749. | VAR_029325 | ||||||||||||||||||||||||||||||||
| Natural variant | 244 | 1 | H → R in XP-A; mild form. Ref.18 | VAR_007731 | ||||||||||||||||||||||||||||||||
| Natural variant | 252 | 1 | L → V: dbSNP rs3176750. | VAR_020324 | ||||||||||||||||||||||||||||||||
Secondary structure | ||||||||||||||||||||||||||||||||||||
Helix Strand Turn | ||||||||||||||||||||||||||||||||||||
| 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 | 164 – 168 | 5 | ||||||||||||||||||||||||||||||||||
| Beta strand | 170 – 172 | 3 | ||||||||||||||||||||||||||||||||||
| Beta strand | 179 – 181 | 3 | ||||||||||||||||||||||||||||||||||
| Helix | 183 – 193 | 11 | ||||||||||||||||||||||||||||||||||
| Helix | 197 – 206 | 10 | ||||||||||||||||||||||||||||||||||
Sequences
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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: 2234061] [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: 15164053] [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: 15489334] [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: 8294029] [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: 8543191] [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: 1918083] [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: 1601884] [Abstract] Cited for: MUTAGENESIS. |
| [11] | "Molecular analysis of Xeroderma pigmentosum group A gene." Tanaka K. Jpn. J. Hum. Genet. 38:1-14(1993) [PubMed: 8504220] [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: 10447254] [Abstract] Cited for: REVIEW ON VARIANTS XP-A. |
| [13] | "ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage." Matsuoka S., Ballif B.A., Smogorzewska A., McDonald E.R. III, Hurov K.E., Luo J., Bakalarski C.E., Zhao Z., Solimini N., Lerenthal Y., Shiloh Y., Gygi S.P., Elledge S.J. Science 316:1160-1166(2007) [PubMed: 17525332] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-196, MASS SPECTROMETRY. |
| [14] | "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: 19197159] [Abstract] Cited for: FUNCTION, INTERACTION WITH CEP164, SUBCELLULAR LOCATION. |
| [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: 9699634] [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: 10563794] [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: 1339397] [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: 1372103] [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: 9671271] [Abstract] Cited for: VARIANT XP-A PHE-108. |
| + | Additional computationally mapped references. |
Web resources
Cross-references
Sequence databases | |||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 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. | ||||||||||||||||||||||||
| UniGene | Hs.654364 | ||||||||||||||||||||||||
3D structure databases | |||||||||||||||||||||||||
| |||||||||||||||||||||||||
| DisProt | DP00243. | ||||||||||||||||||||||||
| ModBase | Search... | ||||||||||||||||||||||||
Protein-protein interaction databases | |||||||||||||||||||||||||
| DIP | DIP:24191N. | ||||||||||||||||||||||||
| IntAct | P23025. 7 interactions. | ||||||||||||||||||||||||
| STRING | P23025. | ||||||||||||||||||||||||
PTM databases | |||||||||||||||||||||||||
| PhosphoSite | P23025. | ||||||||||||||||||||||||
Proteomic databases | |||||||||||||||||||||||||
| PRIDE | P23025. | ||||||||||||||||||||||||
Genome annotation databases | |||||||||||||||||||||||||
| Ensembl | ENST00000375128; ENSP00000364270; ENSG00000136936; Homo sapiens. [Genome view] | ||||||||||||||||||||||||
| GeneID | 7507. | ||||||||||||||||||||||||
| KEGG | hsa:7507. | ||||||||||||||||||||||||
| UCSC | uc004axr.2. human. | ||||||||||||||||||||||||
Organism-specific databases | |||||||||||||||||||||||||
| CTD | 7507. | ||||||||||||||||||||||||
| GeneCards | GC09M099477. | ||||||||||||||||||||||||
| H-InvDB | HIX0008216. | ||||||||||||||||||||||||
| HGNC | HGNC:12814. XPA. | ||||||||||||||||||||||||
| HPA | CAB000155. | ||||||||||||||||||||||||
| MIM | 278700. phenotype. 611153. gene. | ||||||||||||||||||||||||
| Orphanet | 910. Xeroderma pigmentosum. | ||||||||||||||||||||||||
| PharmGKB | PA368. | ||||||||||||||||||||||||
| GenAtlas | Search... | ||||||||||||||||||||||||
Phylogenomic databases | |||||||||||||||||||||||||
| HOGENOM | P23025. | ||||||||||||||||||||||||
| HOVERGEN | P23025. | ||||||||||||||||||||||||
| OMA | VAHQHEY. | ||||||||||||||||||||||||
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 | IPR000465. XPA. [Graphical view] | ||||||||||||||||||||||||
| PANTHER | PTHR10142. XPA. 1 hit. | ||||||||||||||||||||||||
| Pfam | PF05181. XPA_C. 1 hit. PF01286. XPA_N. 1 hit. [Graphical view] | ||||||||||||||||||||||||
| TIGRFAMs | TIGR00598. rad14. 1 hit. | ||||||||||||||||||||||||
| PROSITE | PS00752. XPA_1. 1 hit. PS00753. XPA_2. 1 hit. [Graphical view] | ||||||||||||||||||||||||
| ProtoNet | Search... | ||||||||||||||||||||||||
Other Resources | |||||||||||||||||||||||||
| 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 project | HPI (Human Proteome Initiative) | ||||||||
| 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 |

Clusters with


