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Aliases & Descriptions for XPC
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc
, and/or 7 Ensembl ,
8 miRBase )About This Section
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Aliases XP3 2 XPCC 1 , 2 , 3 , 5 p125 3
Descriptions Xeroderma pigmentosum group C-complementing protein 3 xeroderma pigmentosum group C protein 2 xeroderma pigmentosum, complementation group C 2
Search outside databases for aliases for XPC genePrevious GC identifer: GC03M014115
Summaries for XPC (According to Entrez Gene ,
Wikipedia's
Gene Wiki ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
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EntrezGene summary for XPC : This gene encodes a component of the nucleotide excision repair (NER) pathway. There are multiplecomponents involved in the NER pathway, including Xeroderma pigmentosum (XP) A-G and V, Cockaynesyndrome (CS) A and B, and trichothiodystrophy (TTD) group A, etc. This component, XPC, plays animportant role in the early steps of global genome NER, especially in damage recognition, opencomplex formation, and repair protein complex formation. Mutations in this gene or some other NERcomponents result in Xeroderma pigmentosum, a rare autosomal recessive disorder characterized byincreased sensitivity to sunlight with the development of carcinomas at an early age.Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq] UniProtKB/Swiss-Prot: XPC_HUMAN, Q01831 Function : Involved in DNA excision repair. May play a part in DNA damage recognition and/or inaltering chromatin structure to allow access by damage-processing enzymes
Gene Wiki entry for XPC
Genomic Location for XPC
(According to
GeneLoc and/or
HGNC , and/or
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and/or miRBase ,
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Transcription factor binding sites according to
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Genomic View : UCSC Golden Path with GeneCards custom track Transcription factor binding sites upstream to the XPC gene Entrez Gene cytogenetic band: 3p25 Ensembl cytogenetic band: 3p25.1 HGNC cytogenetic band: 3p25 XPC 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 3 GeneLoc Exon Structure
GeneLoc location for GC03M014161:
(about GC identifiers )
Start:
14,161,648 bp from pter
End:
14,195,143 bp from pter
Size:
33,496 bases
Orientation:
minus strand
RefSeq DNA sequence: NC_000003.10 NT_022517.17 Proteins for XPC
(According to
1 UniProtKB ,
and/or Ensembl ,
Phosphorylation sites according to 2 Phosphosite ,
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 ,
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Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Cell Signaling Technology ,
Abcam ,
Abnova , and/or
Novus Biologicals )
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UniProtKB/Swiss-Prot: XPC_HUMAN, Q01831 (See
protein sequence )Recommended Name: DNA repair protein complementing XP-C cells Size : 940 amino acids; 105981 Da
Subunit : Heterodimer of a 125 kDa subunit (p125) and of a 58 kDa subunit (p58). Interacts withCETN2
Subcellular location : Nucleus (Probable)
PDB structures from and Proteopedia : 2A4J (3D)
 2GGM (3D)
 2OBH (3D)
 
Secondary accessions : Q53GT7 Q96AX0
Post-translational modifications:
Phosphorylated upon DNA damage, probably by ATM or ATR1
View phosphorylation sites using PhosphoSite 2
REFSEQ proteins (2 alternative transcripts):
NP_001139241.1 NP_004619.3 ENSEMBL proteins: ENSP00000285021 Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 2 Gene Ontology (GO) cellular component terms (links to tree view) :
About this table Antibodies for XPC: Assays for XPC:
Protein
Domains/ Families for XPC(According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
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Graphical View of Domain Structure for InterPro Entry Q01831 ProtoNet protein and cluster: Q01831
1 Blocks protein family : IPB004583 DNA repair protein Rad4 UniProtKB/Swiss-Prot: XPC_HUMAN, Q01831 Similarity : Belongs to the XPC family
Gene Function for XPC
(According to MGI Jun 06 2009, UniProtKB ,
IUBMB ,and/or Genatlas ,
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Clones , and
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Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 3 ): NM_004628 Applied Biosystems Silencer ® siRNAs for XPC Sigma-Aldrich siRNA and siRNA Panels for XPC Sigma-Aldrich shRNA for XPC Explore Sigma-Aldrich super-pooled esiRNAs                OriGene GFP tagged cDNA clones in CMV expression vector (see all 2 ): NM_001145769                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 2 ): NM_001145769                                  untagged cDNA clones in CMV expression vector (see all 2 ): NM_001145769  Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_004628 UniProtKB/Swiss-Prot: XPC_HUMAN, Q01831 Function : Involved in DNA excision repair. May play a part in DNA damage recognition and/or inaltering chromatin structure to allow access by damage-processing enzymes
Genatlas biochemistry entry for XPC :component p125 (125kDa) of genome overall nucleotide excision repair complex,in tight associationwith UBE3B (RAD23B)
9 MGI mutant phenotypes (inferred from 2 alleles ) (MGI details for Xpc) :3 Gene Ontology (GO) molecular function terms (links to tree view) :
About this table
Pathways & Interactions for XPC
(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 1 UniProtKB ,
2 MINT , and/or
3 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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1 Sigma-Aldrich "Your Favorite Gene" Pathway for XPC (Your Favorite Gene powered by Ingenuity) Gene Network CentralTM Interacting Genes and Proteins Network for XPC 5/42 Interacting proteins for XPC (Q01831 1 , 2 ENSP00000285021 3 ) via UniProtKB, MINT, and/or STRING (see all 42
)About this table 5 Gene Ontology (GO) biological process terms (links to tree view) :
About this table
Drugs & Compounds for XPC (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 )
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Browse Tocris compounds for XPC 10 Novoseek chemical compound relationships for XPC gene
About this table
Transcripts for XPC(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 ,
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 3 ): NM_004628 Sigma-Aldrich siRNA and siRNA Panels for XPC Sigma-Aldrich shRNA for XPC Explore Sigma-Aldrich super-pooled esiRNAs
Applied Biosystems Silencer ® siRNAs: NM_004628
REFSEQ mRNAs for XPC gene (2 alternative transcripts): NM_001145769.1 NM_004628.4
Applied Biosystems TaqMan ® Gene Expression Assays: NM_004628
               OriGene GFP tagged cDNA clones in CMV expression vector (see all 2 ): NM_001145769                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 2 ): NM_001145769                                  untagged cDNA clones in CMV expression vector (see all 2 ): NM_001145769  
Additional cDNA sequence: AK222844.1 AK289761.1 AK295711.1 AK311039.1 BC016620.1 CR615074.1 D21089.1 X65024.1
16 DOTS entries : DT.213627 DT.97809299 DT.100027621 DT.120920057 DT.92033093 DT.75137024 DT.100796427 DT.95081053 DT.120919961 DT.120919988 DT.120920001 DT.95236198 DT.95236202 DT.99954142 DT.99988460 DT.120920007
24/238 AceView cDNA sequences (see all 238
):AI983317 BU506961 AU125870 BQ892451 AI091587 BE221715 AU120699 AL710884 CA435788 CR615074 CA748472 CF129648 CD619031 CB269927 BM827376 BX957075 BU631737 BE278952 AU130155 BF591481 BX476794 BF732301 AW295314 AI671844
highest scoring ESTs for XPC :D21089 AL709045 AL710884 AU120699 AU128095 AW084643 AW504862 BC016620 BG259049 BI670281
Unigene Cluster for XPC: Xeroderma pigmentosum, complementation group C Hs.475538 [show with all ESTs ] Unigene Representative Sequence: NM_004628 GeneLoc Exon Structure 5/8 Alternative Splicing Database (ASD) splice patterns (SP) for XPC (see all 8
) ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3a · 3b · 3c ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^ SP1 :                               -                       SP2 :                                                     SP3 :                   -   -                                 SP4 :                 -   -   -                                 SP5 :         -                                            
ExUns: 15a · 15b ^ 16a · 16b ^ 17a · 17b SP1 :   -   -         SP2 :             SP3 :             SP4 :             SP5 :            
About this scheme ECgene alternative splicing isoforms for XPC 1 Ensembl transcript including schematic representation : ENST00000285021
Expression for XPC
(Experimental results according to
1 GeneNote
and GNF BioGPS ,
probe sets-to-genes annotations according to
2 GeneAnnot ,
3 GeneTide ,
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
)
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XPC expression in normal and diseased human tissues Applied Biosystems TaqMan ® Gene Expression Assays for XPC 1 / 2 / 3
3 probe-sets matching XPC gene Data from
(Publications) and GNF BioGPS About these images About these images CGAP SAGE TAG: --SOURCE GeneReport for Unigene cluster: Hs.475538 Expression variation in blood from EXPOLDB for XPC
Orthologs for XPC
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
and/or
5 MGI Jun 06 2009,
with possible further links to
Flybase
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Orthologs for XPC gene from 5/14 species (see all 14
)
About this table Species with no ortholog for XPC ENSEMBL Gene Tree for XPC Paralogs for XPC (Paralogs according to 1 HomoloGene and 2 Ensembl , Pseudogenes according to 3 Pseudogene.org )About This Section
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--
SNPs/Variants for XPC (According to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE , and
UniProtKB ,
Linkage Disequilibrium by HapMap ,
Genotyping Reagents from
Applied Biosystems )
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HapMap Linkage Disequilibrium images for XPC (up to first 250kb)
Disorders & Mutations for XPC
(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 .)
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OMIM: 278720 UniProtKB/Swiss-Prot: XPC_HUMAN, Q01831
Defects in XPC are a cause of xeroderma pigmentosum complementation group C (XP-C)[MIM:278720]; also known as xeroderma pigmentosum III (XP3). XP-C is a rare human autosomalrecessive disease characterized by solar sensitivity, high predisposition for developing cancerson areas exposed to sunlight and, in some cases, neurological abnormalities
10/26 Novoseek disease relationships for XPC gene (see all 26
)
Disease
Score
Articles
PubMed IDs for Articles with Shared Sentences (# sentences)
xeroderma pigmentosum
95.20
72
15964821 (2), 17693435 (2), 16105547 (2), 16627479 (2) (see all 54 )
xeroderma pigmentosum, complementation group e
84.25
1
19382146 (1)
skin cancer
74.28
19
8994835 (2), 10749125 (2), 11376686 (2), 15863269 (2) (see all 12 )
xeroderma
72.27
3
15863269 (1), 17355181 (1), 18177054 (1)
cockayne syndrome
68.29
1
9415314 (1)
skin tumor
50.37
1
12173040 (1)
li-fraumeni syndrome
50.17
1
12242345 (1)
bladder cancer
40.00
17
17052994 (5), 14688016 (2), 15886698 (2), 17510383 (2) (see all 7 )
genetic susceptibility
39.03
1
16965652 (1)
cancer
37.99
12
18771913 (3), 16081512 (2), 16965652 (1), 15746160 (1) (see all 8 )
About this table Genatlas disease: XPC xeroderma pigmentosum,group C (common form),with associated TP53 mutations in skin and internaltumors (glioma) GeneTests: XPC Xeroderma Pigmentosum Human Gene Mutation Database : XPC Genetic Association Database: XPC Human Genome Epidemiology Navigator: XPC (98 documents)
Medical News for XPC (Possibly Related Articles in
Doctor's Guide )
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--
Publications for XPC (in
PubMed .
Associations of this gene to articles via
1 Novoseek ,
2 HGNC ,
3 Entrez Gene ,
4 UniProtKB/Swiss-Prot ,
5 UniProtKB/TrEMBL ,
6 GAD , and/or
7 PharmGKB )
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10/282 PubMed articles for XPC gene (see all 282
): Expression cloning of a human DNA repair gene involved in Xeroderma pigmentosum group C. (PubMed id 1522891) 2, 3, 4 Legerski R.J. and Peterson C.A. (1992) Flexibility and plasticity of human centrin 2 binding to the xeroderma pigmentosum group C protein (XPC) from nuclear excision repair. (PubMed id 16533048) 1, 3, 4 Yang A....Craescu C.T. (2006) The XPC poly-AT polymorphism in non-melanoma skin cancer. (PubMed id 15863269) 1, 3, 6 Nelson H.H....Karagas M.R. (2005) Modulation of repair of ultraviolet damage in the host-cell reactivation assay by polymorphic XPC and XPD/ERCC2 genotypes. (PubMed id 11872635) 1, 3, 6 Qiao Y....Wei Q. (2002) [Polymorphisms in nucleotide excision repair genes XPC and XPD and clinical responses to platinum-based chemotherapy in advanced non-small cell lung cancer] (PubMed id 16061005) 1, 3, 6 Yuan P....Lin D.X. (2005) Single nucleotide polymorphisms for DNA repair genes in breast cancer patients. (PubMed id 16002061) 1, 3, 6 Zhang L....Yan W. (2005) 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) The polyAT, intronic IVS11-6 and Lys939Gln XPC polymorphisms are not associated with transitional cell carcinoma of the bladder. (PubMed id 15886698) 1, 3, 6 Sak S.C....Kiltie A.E. (2005) Single nucleotide polymorphisms in breast cancer. (PubMed id 15010895) 1, 3, 6 Forsti A....Kumar R. (2004) Poly (AT) polymorphism in intron 11 of the XPC DNA repair gene enhances the risk of lung cancer. (PubMed id 15533908) 1, 3, 6 Marin M.S....Tardon A. (2004)
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Genome Databases showing XPC
(According to
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HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
and/or
H-InvDB )
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Other Databases showing XPC
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Specialized Databases showing XPC (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
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Name Description
ATLAS Chromosomes in Cancer entry for XPC Genetics and Cytogenetics in Oncology and Haematology Allelic variations of the XP genes http://www.xpmutations.org/ GeneReviews http://www.genetests.org/query?gene=XPC NIEHS-SNPs http://egp.gs.washington.edu/data/xpc/
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-- Services for XPC (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
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Products for XPC:
Recombinant Proteins (XPC ) Antibodies (XPC )
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GeneCards Homepage - Last full update: 2 Jul 2009
Incremental update: 13 Oct 2009