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Aliases & Descriptions for XPA
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase) About This Section
|
| Aliases |
|---|
| OTTHUMP00000021751 2 | | XP1 1, 2 | | XPAC 1, 2, 3, 5 |
| | | Descriptions |
|---|
| Xeroderma pigmentosum group A-complementing protein 3 | | excision repair-controlling 2 | | xeroderma pigmentosum, complementation group A 2 |
|
| | Search outside databases for aliases for XPA genePrevious GC identifers: GC09M091262 GC09M092180 GC09M093874 GC09M095817 GC09M097516 |
Summaries for XPA(According to Entrez Gene,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| EntrezGene summary for XPA: This gene encodes a zinc finger protein involved in DNA excision repair. The encoded protein is part of the NER (nucleotide excision repair) complext which is responsible for repair of UV radiation-induced photoproducts and DNA adducts induced by chemical carcinogens. Mutations in this gene are associated with xeroderma pigmentosum complementation group A. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq] UniProtKB/Swiss-Prot: XPA_HUMAN, P23025Function: 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 irradiationGene Wiki entry for XPA |
Genomic Location for XPA
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to
UCSC and
Ensembl,
Transcription factor binding sites according to
SABiosciences) About This Section
| Genomic View: UCSC Golden Path with GeneCards custom track
Transcription factor binding sites upstream to the XPA gene 
Entrez Gene cytogenetic band: 9q22.3 Ensembl cytogenetic band: 9q22.33 HGNC cytogenetic band: 9q22.3XPA Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)
 GeneLoc gene densities for chromosome 9 GeneLoc Exon Structure GeneLoc location for GC09M099477:
(about GC identifiers)
Start:
|
99,477,012 bp from pter |
End:
|
99,499,512 bp from pter |
Size:
|
22,501 bases |
Orientation:
|
minus strand |
RefSeq DNA sequence:- NC_000009.10 NT_008470.18
| Proteins for XPA
(According to
1UniProtKB,
and/or Ensembl,
Phosphorylation sites according to 2Phosphosite,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Enzo Life Sciences,
Abnova,
OriGene and/or,
Abcam,
Biochemical Assays by
Invitrogen,
Millipore,
R&D Systems,
Cell Signaling Technology, and/or
Enzo Life Sciences,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene,
Antibodies by Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Cell Signaling Technology,
Abcam,
Abnova, and/or
Novus Biologicals)
About This Section
| UniProtKB/Swiss-Prot: XPA_HUMAN, P23025 (See
protein sequence)Recommended Name: DNA repair protein complementing XP-A cells Size: 273 amino acids; 31368 Da
Subunit: Interacts with XAB1 and RPA1. Interacts (via N-terminus) with CEP164 upon UV irradiation
Subcellular location: Nucleus
PDB structures from and Proteopedia :1D4U (3D)
 1XPA (3D)
 2JNW (3D)
 
Secondary accessions: Q5T1U9 Q6LCW7 Q6LD02Post-translational modifications:
Phosphorylated upon DNA damage, probably by ATM or ATR1
View phosphorylation sites using PhosphoSite2
REFSEQ proteins: NP_000371.1
ENSEMBL proteins: ENSP00000364270 ENSP00000364268
Human Recombinant Proteins               OriGene Purified Recombinant Human Protein: XPA 
2 Gene Ontology (GO) cellular component terms (links to tree view): About this table
Antibodies for XPA: Assays for XPA: | Protein
Domains/ Families for XPA(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| - Graphical View of Domain Structure for InterPro Entry P23025
ProtoNet protein and cluster: P23025 1 Blocks protein family: IPB000465 XPA protein
UniProtKB/Swiss-Prot: XPA_HUMAN, P23025Similarity: Belongs to the XPA family | Gene Function for XPA
(According to MGI Jun 06 2009, UniProtKB,
IUBMB,and/or Genatlas,
shRNA from
OriGene,
Sigma-Aldrich, RNAi from
Sigma-Aldrich,
RNAi Products,
Clones, and
Q-PCR Products
from Invitrogen,
Millipore,
OriGene, and/or
Abnova,
siRNAs from
Applied Biosystems,
SYBR primers from OriGene,
Cell-based Assays from Millipore,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|                OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_000380
Applied Biosystems Silencer® siRNAs for XPA
Sigma-Aldrich siRNA and siRNA Panels for XPA  Sigma-Aldrich shRNA for XPA  Explore Sigma-Aldrich super-pooled esiRNAs 
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_000380                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_000380                                  untagged cDNA clone in CMV expression vector: NM_000380 
Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_000380
UniProtKB/Swiss-Prot: XPA_HUMAN, P23025Function: 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 irradiationGenatlas biochemistry entry for XPA:complementing repair defect in UV irradiated xeroderma pigmentation group A cells,yeast RAD14 homolog15/20 MGI mutant phenotypes (inferred from 2 alleles ) (MGI details for Xpa) (see all 20
):
5/6 Gene Ontology (GO) molecular function terms (links to tree view) (see all 6
): About this table | Pathways & Interactions for XPA
(Pathways according to Invitrogen
(maps by GeneGo),
Millipore,
Cell Signaling Technology,
Sigma-Aldrich,
KEGG
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Proteins Network according to
SABiosciences,
Interactions according to 1UniProtKB,
2MINT, and/or
3STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|
1 Sigma-Aldrich "Your Favorite Gene" Pathway for XPA (Your Favorite Gene powered by Ingenuity) 
Gene Network CentralTM Interacting Genes and Proteins Network for XPA 
5/47 Interacting proteins for XPA (P230251 ENSP000003642703) via UniProtKB, MINT, and/or STRING (see all 47
)About this table
2 Gene Ontology (GO) biological process terms (links to tree view): | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0000718 | nucleotide-excision repair, DNA damage removal |
EXP | 10583946 | | GO:0006974 | response to DNA damage stimulus |
IEA | -- | About this table
|
Drugs & Compounds for XPA(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
Sigma-Aldrich, Tocris Bioscience, and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB)
About This Section
|
Browse Tocris compounds for XPA 10 Novoseek chemical compound relationships for XPA gene
About this table
|
Transcripts for XPA(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank, RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
non coding RNAs according to
RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from Invitrogen,
Millipore, and/or
Abnova,
siRNAs from Applied Biosystems,
Sigma-Aldrich,
shRNA from
Sigma-Aldrich,
OriGene,
Tagged/untagged cDNA clones from
OriGene, Expression Assays from Applied Biosystems) About This Section
|                OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_000380
Sigma-Aldrich siRNA and siRNA Panels for XPA  Sigma-Aldrich shRNA for XPA  Explore Sigma-Aldrich super-pooled esiRNAs 
Applied Biosystems Silencer® siRNAs: NM_000380 REFSEQ mRNAs for XPA gene: NM_000380.3
Applied Biosystems TaqMan ® Gene Expression Assays: NM_000380               OriGene GFP tagged cDNA clone in CMV expression vector: NM_000380                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_000380                                  untagged cDNA clone in CMV expression vector: NM_000380  Additional cDNA sequence: AK021661.1 BC014965.1 BT019518.1 CR601727.1 CR624117.1 D14533.1 10 DOTS entries: DT.111331 DT.100639812 DT.100749805 DT.97785246 DT.111332 DT.97826676 DT.75107830 DT.100021004 DT.97798745 DT.95179165 24/82 AceView cDNA sequences (see all 82
):CB155090 D14533 CR624117 CR601727 CB305774 NM_000380 AI961077 BM468458 BQ001163 AA242764 BC014965 CA454341 AA453544 AI949886 CA450156 BI668635 AW275112 AI632135 BQ186624 BI793276 AI634902 BM853017 AU118563 AA167098
highest scoring ESTs for XPA:D14533 BC014965 BE925040 BG681644 BG760044 BG831383 BI600681 BI668635 BI911749 BM468458 Unigene Cluster for XPA: Xeroderma pigmentosum, complementation group A Hs.654364 [show with all ESTs]Unigene Representative Sequence: AK021661
GeneLoc Exon Structure
2 Ensembl transcripts including schematic representations: ENST00000375128
ENST00000375126
|
Expression for XPA
(Experimental results according to
1GeneNote
and GNF BioGPS,
probe sets-to-genes annotations according to
2GeneAnnot ,
3GeneTide ,
Sets of similar genes according to GeneDecks,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP,
plus additional links to
SOURCE, and/or
GNF
BioGPS, and/or
EXPOLDB, and/or
UniProtKB,
Expression Assays from
Applied Biosystems
)
About This Section
| XPA expression in normal and diseased human tissues
Applied Biosystems TaqMan ® Gene Expression Assays for XPA
1 / 2 / 3 5 probe-sets matching XPA gene Data from
(Publications) and GNF BioGPS About these images About these images
CGAP SAGE TAG: TGTTTTTTAG
SOURCE GeneReport for Unigene cluster: Hs.654364
Expression variation in blood from EXPOLDB for XPA UniProtKB/Swiss-Prot: XPA_HUMAN, P23025Tissue specificity: Expressed in various cell lines and in skin fibroblasts |
Orthologs for XPA
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
and/or
5MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase,
Gene Trees according to Ensembl)
About This Section
|
Orthologs for XPA gene from 5/13 species (see all 13
)
About this table Species with no ortholog for XPA
ENSEMBL Gene Tree for XPA | Paralogs for XPA(Paralogs according to 1HomoloGene and 2Ensembl, Pseudogenes according to 3Pseudogene.org) About This Section
| -- |
SNPs/Variants for XPA(According to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Genotyping Reagents from
Applied Biosystems)
About This Section
|
HapMap Linkage Disequilibrium images for XPA (up to first 250kb)
|
Disorders & Mutations for XPA
(in which this Gene is Involved, According to
OMIM, UniProtKB,
Novoseek, PharmGKB,
Genatlas, GeneTests,
Blood group antigen gene mutations by BGMUT,
HGMD, GAD,
HuGE Navigator,
BCGD,
and/or TGDB.)
About This Section
|
OMIM: 611153 disorders: 278700 UniProtKB/Swiss-Prot: XPA_HUMAN, P23025
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 disorders10/21 Novoseek disease relationships for XPA gene (see all 21
)
| Disease |
Score |
Articles |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| xeroderma pigmentosum |
96.41 |
119 |
1918083 (2), 10340474 (2), 1339397 (2), 9753735 (2) (see all 88) |
| trichothiodystrophy |
77.43 |
1 |
11104904 (1) |
| xeroderma |
76.43 |
4 |
10841197 (1), 15820060 (1), 15116327 (1) |
| cockayne syndrome |
75.78 |
3 |
9415314 (1), 10601636 (1), 11104904 (1) |
| skin cancer |
69.18 |
6 |
16905156 (1), 9415314 (1), 12509227 (1), 10602497 (1) (see all 5) |
| skin tumor |
60.05 |
1 |
9180928 (1) |
| ataxia telangiectasia |
35.50 |
2 |
16862173 (1), 16540648 (1) |
| cancer |
33.84 |
15 |
11378441 (2), 11212280 (1), 16315315 (1), 15095299 (1) (see all 9) |
| carcinoma basal cell |
30.80 |
1 |
15116327 (1) |
| cancer lung |
27.18 |
12 |
15333465 (3), 16550608 (2), 15837542 (2), 15820060 (1) (see all 6) |
About this table
Genatlas disease: XPA xeroderma pigmentosum,complementation group A GeneTests: XPA Xeroderma Pigmentosum Human Gene Mutation Database: XPA Genetic Association Database: XPA Human Genome Epidemiology Navigator: XPA (51 documents)
|
Medical News for XPA(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications for XPA (in
PubMed.
Associations of this gene to articles via
1Novoseek,
2HGNC,
3Entrez Gene,
4UniProtKB/Swiss-Prot,
5UniProtKB/TrEMBL,
6GAD, and/or
7PharmGKB)
About This Section
| 10/280 PubMed articles for XPA gene (see all 280
):- Molecular basis of group A Xeroderma pigmentosum: a missense mutation and two deletions located in a zinc finger consensus sequence of the XPAC gene. (PubMed id 1339397)1, 3, 4 Satokata I.... Okada Y. (1992)
- Identification and characterization of xpac protein, the gene product of the human XPAC (Xeroderma pigmentosum group A complementing) gene. (PubMed id 1918083)1, 3, 4 Miura N.... Okada Y. (1991)
- Combinations of polymorphisms in XPD, XPC and XPA in relation to risk of lung cancer. (PubMed id 15837542)1, 3, 6 Vogel U....Raaschou-Nielsen O. (2005)
- UV-dependent interaction between Cep164 and XPA mediates localization of Cep164 at sites of DNA damage and UV sensitivity. (PubMed id 19197159)1, 3, 4 Pan Y.R. and Lee E.Y. (2009)
- Specific combinations of DNA repair gene variants and increased risk for non-small cell lung cancer. (PubMed id 15333465)1, 3, 6 Popanda O....Schmezer P. (2004)
- Association between the risk for lung adenocarcinoma and a (-4) G-to-A polymorphism in the XPA gene. (PubMed id 15598786)1, 3, 6 Butkiewicz D....Schmezer P. (2004)
- Distribution of mutations in the human Xeroderma pigmentosum group A gene and their relationships to the functional regions of the DNA damage recognition protein. (PubMed id 9671271)1, 3, 4 States J.C.... Cleaver J.E. (1998)
- Analysis of a human DNA excision repair gene involved in group A Xeroderma pigmentosum and containing a zinc-finger domain. (PubMed id 2234061)1, 3, 4 Tanaka K.... Okada Y. (1990)
- Polymorphisms of DNA repair genes and risk of non-small cell lung cancer. (PubMed id 16195237)1, 3, 6 Zienolddiny S....Haugen A. (2006)
- Gene-environment interaction involved in oral carcinogenesis: molecular epidemiological study for metabolic and DNA repair gene polymorphisms. (PubMed id 16393248)1, 3, 6 Sugimura T....Ishizaki K. (2006)
|
Search for XPA
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing XPA
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
and/or
H-InvDB)
About This Section
|
| Other Databases showing XPA
(According to HUGE)
About This Section
| -- |
Specialized Databases showing XPA(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL, Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot) About This Section
|
| Name | Description |
| ATLAS Chromosomes in Cancer entry for XPA | Genetics and Cytogenetics in Oncology and Haematology | | Allelic variations of the XP genes | http://www.xpmutations.org/ | | GeneReviews | http://www.genetests.org/query?gene=XPA | | NIEHS-SNPs | http://egp.gs.washington.edu/data/xpa/ |
|
| | | About This Section
| --
| Services for XPA(Reagents available from Applied Biosystems, Antibodies and assays by Cell
Signaling Technology, Abcam, Novus Biologicals, Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich, Enzo Life Sciences, and/or Tocris Bioscience) About This Section
| 
 Products for XPA:

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