Human Gene XPA (ENST00000375128.5_7) from GENCODE V47lift37
  Description: XPA, DNA damage recognition and repair factor, transcript variant 5 (from RefSeq NR_149092.2)
Gencode Transcript: ENST00000375128.5_7
Gencode Gene: ENSG00000136936.11_8
Transcript (Including UTRs)
   Position: hg19 chr9:100,437,191-100,459,622 Size: 22,432 Total Exon Count: 6 Strand: -
Coding Region
   Position: hg19 chr9:100,437,721-100,459,574 Size: 21,854 Coding Exon Count: 6 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesGeneReviewsModel Information
Methods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr9:100,437,191-100,459,622)mRNA (may differ from genome)Protein (273 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsHGNC
MalacardsMGIOMIMPubMedReactomeUniProtKB
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  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";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: XPA
Diseases sorted by gene-association score: xeroderma pigmentosum, group a* (1240), xpa-related xeroderma pigmentosum* (100), xeroderma pigmentosum, variant type (23), xeroderma pigmentosum, group c (14), trichothiodystrophy 1, photosensitive (12), cockayne syndrome (12), xeroderma pigmentosum, group f (10), xeroderma pigmentosum, group g (9), xeroderma pigmentosum group e (8), multiple self-healing squamous epithelioma (7), xeroderma pigmentosum, group d (7), autosomal genetic disease (7), xeroderma pigmentosum, group b (6), conjunctival degeneration (6), spasmodic dystonia (6), skin benign neoplasm (6), integumentary system cancer (5), pinguecula (5), mutagen sensitivity (4), basal cell nevus syndrome (4), basal cell carcinoma (3), autosomal recessive disease (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 19.97 RPKM in Thyroid
Total median expression: 478.84 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -17.9048-0.373 Picture PostScript Text
3' UTR -128.70530-0.243 Picture PostScript Text

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.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR009061 - DNA-bd_dom_put
IPR000465 - XPA
IPR022656 - XPA_C
IPR022658 - XPA_CS
IPR022652 - Znf_XPA_CS

Pfam Domains:
PF01286 - XPA protein N-terminal
PF05181 - XPA protein C-terminus

SCOP Domains:
46955 - Putative DNA-binding domain
57716 - Glucocorticoid receptor-like (DNA-binding domain)
57903 - FYVE/PHD zinc finger

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1D4U - NMR MuPIT 1XPA - NMR MuPIT 2JNW - NMR MuPIT


ModBase Predicted Comparative 3D Structure on P23025
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  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.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologGenome BrowserGenome Browser
Gene DetailsGene Details Gene DetailsGene DetailsGene Details
Gene SorterGene Sorter Gene SorterGene SorterGene Sorter
 RGDEnsembl WormBaseSGD
    Protein SequenceProtein Sequence
    AlignmentAlignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003677 DNA binding
GO:0003684 damaged DNA binding
GO:0005515 protein binding
GO:0019904 protein domain specific binding
GO:0042803 protein homodimerization activity
GO:0046872 metal ion binding

Biological Process:
GO:0000715 nucleotide-excision repair, DNA damage recognition
GO:0006281 DNA repair
GO:0006283 transcription-coupled nucleotide-excision repair
GO:0006284 base-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:0006974 cellular response to DNA damage stimulus
GO:0006979 response to oxidative stress
GO:0008630 intrinsic apoptotic signaling pathway in response to DNA damage
GO:0009411 response to UV
GO:0009636 response to toxic substance
GO:0009650 UV protection
GO:0010996 response to auditory stimulus
GO:0033683 nucleotide-excision repair, DNA incision
GO:0034504 protein localization to nucleus
GO:0035264 multicellular organism growth
GO:0070911 global genome nucleotide-excision repair
GO:0070914 UV-damage excision repair
GO:1901255 nucleotide-excision repair involved in interstrand cross-link repair

Cellular Component:
GO:0000110 nucleotide-excision repair factor 1 complex
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0045171 intercellular bridge
GO:0005662 DNA replication factor A complex


-  Descriptions from all associated GenBank mRNAs
  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

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000375128.1, ENST00000375128.2, ENST00000375128.3, ENST00000375128.4, NR_149092, P23025, Q5T1U9, Q6LCW7, Q6LD02, uc318mbl.1, uc318mbl.2, XPAC, XPA_HUMAN
UCSC ID: ENST00000375128.5_7
RefSeq Accession: NM_000380.4
Protein: P23025 (aka XPA_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene XPA:
xp (Xeroderma Pigmentosum)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.