ID:XPA_HUMAN DESCRIPTION: RecName: Full=DNA repair protein complementing XP-A cells; AltName: Full=Xeroderma pigmentosum group A-complementing protein; 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. SUBUNIT: Interacts with GPN1 and RPA1. Interacts (via N-terminus) with CEP164 upon UV irradiation. Interacts with HERC2. INTERACTION: P15927:RPA2; NbExp=3; IntAct=EBI-295222, EBI-621404; Q96EB6:SIRT1; NbExp=8; IntAct=EBI-295222, EBI-1802965; Q9HCS7:XAB2; NbExp=2; IntAct=EBI-295222, EBI-295232; SUBCELLULAR LOCATION: Nucleus. TISSUE SPECIFICITY: Expressed in various cell lines and in skin fibroblasts. PTM: Phosphorylated upon DNA damage, probably by ATM or ATR. PTM: Ubiquitinated by HERC2 leading to degradation by the proteasome. 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. SIMILARITY: Belongs to the XPA family. 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/XPAID104.html"; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/XPA"; WEB RESOURCE: Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/xpa/"; WEB RESOURCE: Name=Protein Spotlight; Note=Nature's flaws - Issue 142 of September 2012; URL="http://www.expasy.org/spotlight/back_issues/sptlt142.shtml";
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 P23025
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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.
BC014965 - Homo sapiens xeroderma pigmentosum, complementation group A, mRNA (cDNA clone MGC:23059 IMAGE:4878739), complete cds. LF383868 - JP 2014500723-A/191371: Polycomb-Associated Non-Coding RNAs. D14533 - Homo sapiens mRNA for XPAC protein, complete cds. JD182865 - Sequence 163889 from Patent EP1572962. JD148960 - Sequence 129984 from Patent EP1572962. JD279222 - Sequence 260246 from Patent EP1572962. JD145685 - Sequence 126709 from Patent EP1572962. JD450745 - Sequence 431769 from Patent EP1572962. JD170678 - Sequence 151702 from Patent EP1572962. KJ892389 - Synthetic construct Homo sapiens clone ccsbBroadEn_01783 XPA gene, encodes complete protein. BT019518 - Homo sapiens xeroderma pigmentosum, complementation group A mRNA, complete cds. DQ893624 - Synthetic construct clone IMAGE:100006254; FLH184267.01X; RZPDo839D12144D xeroderma pigmentosum, complementation group A (XPA) gene, encodes complete protein. DQ895423 - Synthetic construct Homo sapiens clone IMAGE:100009883; FLH184263.01L; RZPDo839D12143D xeroderma pigmentosum, complementation group A (XPA) gene, encodes complete protein. AB590398 - Synthetic construct DNA, clone: pFN21AE1316, Homo sapiens XPA gene for xeroderma pigmentosum, complementation group A, without stop codon, in Flexi system. LF354565 - JP 2014500723-A/162068: Polycomb-Associated Non-Coding RNAs. KC899693 - Homo sapiens mutant xeroderma pigmentosum complementation group A (XPA) mRNA, partial cds. LF354568 - JP 2014500723-A/162071: Polycomb-Associated Non-Coding RNAs. LF354569 - JP 2014500723-A/162072: Polycomb-Associated Non-Coding RNAs. S89853 - XPAC=XP group A complementing {exon 3, zinc finger motif} [human, mRNA Partial Mutant, 45 nt]. LF354570 - JP 2014500723-A/162073: Polycomb-Associated Non-Coding RNAs. JD444585 - Sequence 425609 from Patent EP1572962. MA619445 - JP 2018138019-A/191371: Polycomb-Associated Non-Coding RNAs. MA590142 - JP 2018138019-A/162068: Polycomb-Associated Non-Coding RNAs. MA590145 - JP 2018138019-A/162071: Polycomb-Associated Non-Coding RNAs. MA590146 - JP 2018138019-A/162072: Polycomb-Associated Non-Coding RNAs. MA590147 - JP 2018138019-A/162073: Polycomb-Associated Non-Coding RNAs. MB032888 - JP 2019097423-A/1: Antisense oligonucleotide inducing XPA exon3 skipping. MB032889 - JP 2019097423-A/2: Antisense oligonucleotide inducing XPA exon3 skipping. MB032892 - JP 2019097423-A/5: Antisense oligonucleotide inducing XPA exon3 skipping. MB032890 - JP 2019097423-A/3: Antisense oligonucleotide inducing XPA exon3 skipping. MB032894 - JP 2019097423-A/7: Antisense oligonucleotide inducing XPA exon3 skipping.
Biochemical and Signaling Pathways
Reactome (by CSHL, EBI, and GO)
Protein P23025 (Reactome details) participates in the following event(s):
R-HSA-5689861 Recruitment of XPA and release of CAK R-HSA-6782004 Assembly of the pre-incision complex in TC-NER R-HSA-5690988 3'-incision of DNA by ERCC5 (XPG) in GG-NER R-HSA-6782224 3' incision by ERCC5 (XPG) in TC-NER 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-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-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-6790487 RNF111 ubiquitinates SUMOylated XPC R-HSA-5689317 Formation of the pre-incision complex in GG-NER R-HSA-6782141 Binding of ERCC1:ERCC4 (ERCC1:XPF) to pre-incision complex in TC-NER R-HSA-5690991 Binding of ERCC1:ERCC4 (ERCC1:XPF) to pre-incision complex in GG-NER R-HSA-5696395 Formation of Incision Complex in GG-NER R-HSA-6781823 Formation of TC-NER Pre-Incision Complex R-HSA-5696400 Dual Incision in GG-NER R-HSA-6782135 Dual incision in TC-NER R-HSA-5696399 Global Genome Nucleotide Excision Repair (GG-NER) R-HSA-6781827 Transcription-Coupled Nucleotide Excision Repair (TC-NER) R-HSA-5696398 Nucleotide Excision Repair R-HSA-73894 DNA Repair