XPC Gene
protein-coding GIFtS: 68
GCID: GC03M014161
|
|
xeroderma pigmentosum, complementation group C
| |
Aliases
for XPC gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA
Quality score for the ORGUL clustered with this gene is 3
| Aliases |
|---|
| Xeroderma Pigmentosum, Complementation Group C1 2 | | XP32 | | XPCC1 2 3 5 | | DNA Repair Protein Complementing XP-C Cells2 | | RAD41 2 | | Mutant Xeroderma Pigmentosum Group C2 | | P1251 | | Xeroderma Pigmentosum Group C-Complementing Protein3 |
| External Ids: | HGNC: 128161 | Entrez Gene: 75082 | Ensembl: ENSG000001547677 | OMIM: 6132085 | UniProtKB: Q018313 |
|---|
| | ORGUL members: | |
|---|
| NONCODE:n407776 | |
Export aliases for XPC gene to outside databasesPrevious GC identifer: GC03M014115
Summaries
for XPC gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for XPC:
This gene encodes a component of the nucleotide excision repair (NER) pathway. There are multiple components involvedin the NER pathway, including Xeroderma pigmentosum (XP) A-G and V, Cockayne syndrome (CS) A and B, andtrichothiodystrophy (TTD) group A, etc. This component, XPC, plays an important role in the early steps of globalgenome NER, especially in damage recognition, open complex formation, and repair protein complex formation. Mutationsin this gene or some other NER components result in Xeroderma pigmentosum, a rare autosomal recessive disordercharacterized by increased sensitivity to sunlight with the development of carcinomas at an early age. Alternativelyspliced transcript variants have been found for this gene. (provided by RefSeq, Mar 2009)
UniProtKB/Swiss-Prot: XPC_HUMAN, Q01831Function: Involved in global genome nucleotide excision repair (GG-NER) by acting as damage sensing and DNA-bindingfactor component of the XPC complex. Has only a low DNA repair activity by itself which is stimulated by RAD23B andRAD23A. Has a preference to bind DNA containing a short single-stranded segment but not to damaged oligonucleotides.This feature is proposed to be related to a dynamic sensor function: XPC can rapidly screen duplex DNA fornon-hydrogen-bonded bases by forming a transient nucleoprotein intermediate complex which matures into a stablerecognition complex through an intrinsic single-stranded DNA-binding activityFunction: The XPC complex is proposed to represent the first factor bound at the sites of DNA damage and together withother core recognition factors, XPA, RPA and the TFIIH complex, is part of the pre-incision (or initial recognition)complex. The XPC complex recognizes a wide spectrum of damaged DNA characterized by distortions of the DNA helix suchas single-stranded loops, mismatched bubbles or single stranded overhangs. The orientation of XPC complex bindingappears to be crucial for inducing a productive NER. XPC complex is proposed to recognize and to interact withunpaired bases on the undamaged DNA strand which is followed by recruitment of the TFIIH complex and subsequentscanning for lesions in the opposite strand in a 5'-to-3' direction by the NER machinery. Cyclobutane pyrimidinedimers (CPDs) which are formed upon UV-induced DNA damage esacpe detection by the XPC complex due to a low degree ofstructural perurbation. Instead they are detected by the UV-DDB complex which in turn recruits and cooperates with theXPC complex in the respective DNA repair. In vitro, the XPC:RAD23B dimer is sufficient to initiate NER; itpreferentially binds to cisplatin and UV-damaged double-stranded DNA and also binds to a variety of chemically andstructurally diverse DNA adducts. XPC:RAD23B contacts DNA both 5' and 3' of a cisplatin lesion with a preference forthe 5' side. XPC:RAD23B induces a bend in DNA upon binding. XPC:RAD23B stimulates the activity of DNA glycosylases TDGand SMUG1
Gene Wiki entry for XPC
|
Genomic Views
for XPC gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000003.11 NC_018914.1 NT_022517.18
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the XPC gene promoter:
HOXA9B HOXA9 Nkx3-1 Nkx3-1 v4 Nkx3-1 v1 GATA-1 GATA-2 Nkx3-1 v2 Nkx3-1 v3 c-Myb
Other transcription factors
Search SABiosciences Chromatin IP Primers for XPC
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat XPC |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 3p25 Ensembl cytogenetic band: 3p25.1 HGNC cytogenetic band: 3p25XPC Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 3 GeneLoc Exon Structure GeneLoc location for GC03M014161: view genomic region
(about GC identifiers)
Start:
|
14,186,647 bp from pter |
End:
|
14,220,283 bp from pter |
Size:
|
33,637 bases |
Orientation:
|
minus strand |
|
Proteins
for XPC gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: XPC_HUMAN, Q01831 (See
protein sequence)Recommended Name: DNA repair protein complementing XP-C cells Size: 940 amino acids; 105953 Da
Subunit: Component of the XPC complex composed of XPC, RAD23B and CETN2. Interacts with RAD23A; the interaction issuggesting the existence of a functional equivalent variant XPC complex. Interacts with TDG; the interaction isdemonstrated using the XPC:RAD23B dimer. Interacts with SMUG1; the interaction is demonstrated using the XPC:RAD23Bdimer. Interacts with DDB2. Interacts with CCNH, GTF2H1 and ERCC3
Subcellular location: Nucleus. Cytoplasm. Note=Omnipresent in the nucleus and consistently associates with anddissociates from DNA in the absence of DNA damage. Continuously shuttles between the cytoplasm and the nucleus, whichis impeded by the presence of NER lesions
3 PDB 3D structures from  and Proteopedia  for XPC:2A4J (3D)
2GGM (3D)
2OBH (3D)
Secondary accessions: Q53GT7 Q96AX0Explore the universe of human proteins at neXtProt for XPC: NX_Q01831
Post-translational modifications:
Ubiquitinated upon UV irradiation; the ubiquitination requires the UV-DDB complex, appears to be reversible and doesnot serve as a signal for degradation1
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q01831
XPC Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (2 alternative transcripts):
NP_001139241.1 NP_004619.3
ENSEMBL proteins: ENSP00000285021 ENSP00000424548 ENSP00000423867 ENSP00000404002 Reactome Protein details: Q01831
Human Recombinant Protein Products for XPC:
Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view): About this table
XPC for ontologies About GeneDecksing
XPC Antibody Products:
Assay Products for XPC: |
Protein
Domains /
Families
for XPC gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
XPC for domains About GeneDecksing
5/6 InterPro domains/families (see all 6):Graphical View of Domain Structure for InterPro Entry Q01831ProtoNet protein and cluster: Q01831 1 Blocks protein family: IPB004583 DNA repair protein Rad4
UniProtKB/Swiss-Prot: XPC_HUMAN, Q01831Similarity: Belongs to the XPC family |
Function
for XPC gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
inGenious Targeting Laboratory,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase,
shRNA from
OriGene,
Sirion Biotech,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Sirion Biotech,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
Sirion Biotech,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Molecular Function:
UniProtKB/Swiss-Prot Summary: XPC_HUMAN, Q01831Function: Involved in global genome nucleotide excision repair (GG-NER) by acting as damage sensing and DNA-bindingfactor component of the XPC complex. Has only a low DNA repair activity by itself which is stimulated by RAD23B andRAD23A. Has a preference to bind DNA containing a short single-stranded segment but not to damaged oligonucleotides.This feature is proposed to be related to a dynamic sensor function: XPC can rapidly screen duplex DNA fornon-hydrogen-bonded bases by forming a transient nucleoprotein intermediate complex which matures into a stablerecognition complex through an intrinsic single-stranded DNA-binding activityFunction: The XPC complex is proposed to represent the first factor bound at the sites of DNA damage and together withother core recognition factors, XPA, RPA and the TFIIH complex, is part of the pre-incision (or initial recognition)complex. The XPC complex recognizes a wide spectrum of damaged DNA characterized by distortions of the DNA helix suchas single-stranded loops, mismatched bubbles or single stranded overhangs. The orientation of XPC complex bindingappears to be crucial for inducing a productive NER. XPC complex is proposed to recognize and to interact withunpaired bases on the undamaged DNA strand which is followed by recruitment of the TFIIH complex and subsequentscanning for lesions in the opposite strand in a 5'-to-3' direction by the NER machinery. Cyclobutane pyrimidinedimers (CPDs) which are formed upon UV-induced DNA damage esacpe detection by the XPC complex due to a low degree ofstructural perurbation. Instead they are detected by the UV-DDB complex which in turn recruits and cooperates with theXPC complex in the respective DNA repair. In vitro, the XPC:RAD23B dimer is sufficient to initiate NER; itpreferentially binds to cisplatin and UV-damaged double-stranded DNA and also binds to a variety of chemically andstructurally diverse DNA adducts. XPC:RAD23B contacts DNA both 5' and 3' of a cisplatin lesion with a preference forthe 5' side. XPC:RAD23B induces a bend in DNA upon binding. XPC:RAD23B stimulates the activity of DNA glycosylases TDGand SMUG1 Genatlas biochemistry entry for XPC:component p125 (125kDa) of genome overall nucleotide excision repair complex,in tight association with UBE3B (RAD23B)
Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view): About this table
XPC for ontologies About GeneDecksing
Phenotypes:
5 GenomeRNAi human phenotypes for XPC:
9 MGI mutant phenotypes (inferred from 2 alleles ) (MGI details for Xpc):
XPC for phenotypes About GeneDecksing
Animal Models:
Mouse knock-outs for XPC: Xpctm1Brd Xpctm1Ecf
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for XPC (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for XPC (see all 2)
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector (see all 2): XPC (NM_004628) | |  | Sino Biological Human cDNA Clone for XPC | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for XPC | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat XPC |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for XPC |
|
Pathways & Interactions
for XPC gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways - 5/6 super-pathways (see all 6) About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Global Genomic NER (GG-NER) | | | 2 | Transcription_P53 signaling pathway | | | 3 | Nucleotide Excision Repair | | | 4 | Formation of RNA Pol II elongation complex | | | 5 | DNA Damage Recognition in GG-NER | |
Pathway sources
See GeneCards unified pathways
Show all pathways
2 EMD Millipore Pathways for XPC
2 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for XPC
2  GeneGo (Thomson Reuters) Pathways for XPC
5/6 
Reactome Pathways for XPC (see all 6)
1 
Kegg Pathway (Kegg details for XPC):
XPC for pathways About GeneDecksing
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for XPC
STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)
5/40 Interacting proteins for XPC (Q018311, 2, 3 ENSP000002850214) via UniProtKB, MINT, STRING, and/or I2D (see all 40)| Interactant | Interaction Details |
|---|
| GeneCard | External ID(s) |
|---|
| CETN2 | P412081, 3, ENSP000003593004 | EBI-372610,EBI-1789926 I2D:
score=3 STRING: ENSP00000359300 | | CHAF1A | Q131112, 3, ENSP000003012804 | MINT-7263800 I2D:
score=2 STRING: ENSP00000301280 | | ERCC3 | P194471, 3, ENSP000002853984 | EBI-372610,EBI-1183307 I2D:
score=2 STRING: ENSP00000285398 | | GTF2H1 | P327801, 3, ENSP000002659634 | EBI-372610,EBI-715539 I2D:
score=2 STRING: ENSP00000265963 | | ERCC4 | Q928892, 3, ENSP000003105204 | MINT-7263772 I2D:
score=1 STRING: ENSP00000310520 |
About this table
Gene Ontology (GO): 5/9 biological process terms (GO ID links to tree view) (see all 9): About this table
XPC for ontologies About GeneDecksing
|
Drugs & Compounds
for XPC gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
XPC for compounds About GeneDecksing
 Browse Tocris compounds for XPC
10/13 Novoseek chemical compound relationships for XPC gene (see all 13) About this table
| Compound |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| poly a-t |
81.7 |
2 |
15886698 (1), 15863269 (1) |
| 2-acetylaminofluorene |
42.5 |
4 |
11376686 (1), 10029060 (1) |
| benzo(a)pyrene |
41 |
6 |
17900831 (2), 19553035 (2), 19428948 (1) |
| cisplatin |
27.9 |
14 |
15353127 (5), 15107491 (5), 15882455 (1), 16849332 (1) (see all 6) |
| tyrosine |
25.9 |
27 |
8910389 (3), 7681835 (3), 8955182 (2), 7929090 (2) (see all 17) |
| cytochalasin d |
25.5 |
1 |
8910389 (1) |
| wortmannin |
23.7 |
1 |
8955182 (1) |
| ly294002 |
18.3 |
1 |
8955182 (1) |
| thymine |
10.7 |
1 |
12505994 (1) |
| oligonucleotide |
0 |
1 |
17355181 (1) |
1 PharmGKB related drug/compound annotation for XPC gene About this tableSearch CenterWatch for drugs/clinical trials and news about XPC
|
Transcripts
for XPC gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
Sirion Biotech,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for XPC gene (2 alternative transcripts): NM_001145769.1 NM_004628.4 Unigene Clusters for XPC: Xeroderma pigmentosum, complementation group C Hs.475538 [show with all ESTs], Hs.739296 [show with all ESTs]Unigene Representative Sequences: NM_004628, DA9573198 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000285021(uc011ave.2 uc011avf.2 uc011avg.2) ENST00000476581
ENST00000427795 ENST00000477324 ENST00000455144 ENST00000452172 ENST00000511155
ENST00000449060(uc021wtl.1 uc021wtm.1)
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for XPC (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for XPC (see all 2)
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector (see all 2): XPC (NM_004628) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for XPC | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat XPC |
Additional cDNA sequence: EU530533.1 16 DOTS entries: DT.213627 DT.97809299 DT.100027621 DT.120920057 DT.75137024 DT.92033093 DT.100796427 DT.95081053 DT.120919961 DT.120919988 DT.120920001 DT.120920007 DT.95236198 DT.95236202 DT.99954142 DT.99988460 24/238 AceView cDNA sequences (see all 238): CD619031 AU120699 CA748472 BU631737 AI983317 BF591481 BU506961 CF129648 BX957075 AL710884 BE278952 BM827376 BE221715 AI091587 BQ892451 CB269927 AU125870 CR615074 CA435788 AU130155 W93782 BX451523 BG338028 AI825778
GeneLoc Exon Structure
5/8 Alternative Splicing Database (ASD) splice patterns (SP) for XPC (see all 8) About this scheme
| 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: | | | | | | | | | | | | |
ECgene alternative splicing isoforms for XPC
|
Expression
for XPC gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| XPC expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --
About this image
See XPC Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for XPC
SOURCE GeneReport for Unigene clusters: Hs.475538 Hs.739296
SABiosciences Expression via Pathway-Focused PCR Arrays including XPC (see all 6):
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for XPC
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat XPC | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat XPC | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat XPC | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for XPC |
Orthologs
for XPC gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of eukaryotes.
Orthologs for XPC gene from 9/28 species (see all 28) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
mouse
(Mus musculus) |
Mammalia |
Xpc1 , 5 |
xeroderma pigmentosum, complementation group C1, 5 |
79.34(n)1
75.38(a)1 |
|
6 (40.55 cM)5
225911 NM_009531.21 NP_033557.21
914893055 |
chicken
(Gallus gallus) |
Aves |
XPC1 |
xeroderma pigmentosum, complementation group C |
63.09(n)
58.95(a) |
|
416039 XM_414379.3 XP_414379.3 |
lizard
(Anolis carolinensis) |
Reptilia |
XPC6 |
-- |
57(a) |
1 ↔ 1 |
2(169432610-169449428) |
African clawed frog
(Xenopus laevis) |
Amphibia |
BJ066411.12 |
-- |
73.69(n) |
|
BJ066411.1 |
zebrafish
(Danio rerio) |
Actinopterygii |
570380562 |
-- |
78.72(n) |
|
57038056 |
fruit fly
(Drosophila melanogaster) |
Insecta |
mus2103 |
nucleotide-excision repair damaged DNA
binding less |
49(a) |
|
2 51F5 -- |
worm
(Caenorhabditis elegans) |
Secernentea |
Y76B12C.23 |
-- |
39(a) |
|
IV(1993096-2007897) -- |
thale cress
(Arabidopsis thaliana) |
eudicotyledons |
RAD41 |
xeroderma pigmentosum group C-complementing protein less |
44.05(n)
33(a) |
|
831525 NM_121669.2 NP_197166.2 |
rice
(Oryza sativa) |
Liliopsida |
Os08g04275001 |
hypothetical protein |
43.89(n)
31.4(a) |
|
4345619 NM_001068378.1 NP_001061843.1 |
ENSEMBL Gene Tree for XPC (if available)
TreeFam Gene Tree for XPC (if available) |
Paralogs
for XPC gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| -- |
Genomic Variants
for XPC gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 3 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for XPC (14186647 - 14220283 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for XPC
1 CNV: 48019
1 Indel: 41312
Human Gene Mutation Database (HGMD): XPC
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing XPC |
|
Disorders
/ Diseases
for XPC gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
XPC for disorders About GeneDecksing
OMIM gene information: 613208
OMIM disorders: 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 asxeroderma pigmentosum III (XP3). XP-C 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
20/74  diseases for XPC (see all 74): About MalaCardsxeroderma pigmentosum xeroderma pigmentosum, group c cockayne syndrome li-fraumeni syndrome
xeroderma pigmentosum, group d xeroderma pigmentosum, group a diffuse large b-cell lymphoma carcinoma
photosensitive trichthiodystrophy radiation induced cancer b-cell lymphomas acoustic neuroma
mutagen sensitivity squamous cell carcinoma urinary bladder cancer autosomal recessive disease
oral squamous cell carcinoma squamous cell carcinoma of the head and neck neuroma esophageal squamous cell carcinoma
2 diseases from the University of Copenhagen DISEASES database for XPC:Xeroderma pigmentosum Multiple cranial nerve palsy 10/26 Novoseek disease relationships for XPC gene (see all 26) About this table
| Disease |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| xeroderma pigmentosum |
95.4 |
80 |
15964821 (2), 17693435 (2), 16105547 (2), 16627479 (2) (see all 60) |
| xeroderma pigmentosum, complementation group e |
83.3 |
1 |
19382146 (1) |
| xeroderma |
75.8 |
3 |
15863269 (1), 17355181 (1), 18177054 (1) |
| skin cancer |
73.5 |
19 |
8994835 (2), 10749125 (2), 11376686 (2), 15863269 (2) (see all 12) |
| cockayne syndrome |
66.8 |
1 |
9415314 (1) |
| skin tumor |
48.1 |
1 |
12173040 (1) |
| li-fraumeni syndrome |
47.9 |
1 |
12242345 (1) |
| bladder cancer |
44.7 |
17 |
17052994 (5), 14688016 (2), 15886698 (2), 17510383 (2) (see all 7) |
| cancer |
39.2 |
14 |
18771913 (3), 16081512 (2), 16965652 (1), 20388771 (1) (see all 10) |
| genetic susceptibility |
36.3 |
1 |
16965652 (1) |
Genatlas disease: XPC xeroderma pigmentosum,group C (common form),with associated TP53 mutations in skin and internal tumors (glioma)
GeneTests: XPC
Xeroderma Pigmentosum
Genetic Association Database (GAD): XPC
Human Genome Epidemiology (HuGE) Navigator: XPC (150 documents)
Export disorders for XPC gene to outside databases
|
Publications
for XPC gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for XPC gene, integrated from 9 sources (see all 403):
(articles sorted by number of sources associating them with XPC) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Expression cloning of a human DNA repair gene involved in Xeroderma pigmentosum group C. (PubMed id 1522891)1, 2, 3 Legerski R.J. and Peterson C.A. (1992)
- Versatile DNA damage detection by the global genome nucleotide excision repair protein XPC. (PubMed id 18682493)1, 2, 9 Hoogstraten D....Houtsmuller A.B. (2008)
- In vivo destabilization and functional defects of the xeroderma pigmentosum C protein caused by a pathogenic missense mutation. (PubMed id 17682058)1, 2, 9 Yasuda G....Sugasawa K. (2007)
- Flexibility and plasticity of human centrin 2 binding to the xeroderma pigmentosum group C protein (XPC) from nuclear excision repair. (PubMed id 16533048)1, 2, 9 Yang A....Craescu C.T. (2006)
- UV-induced ubiquitylation of XPC protein mediated by UV-DDB-ubiquitin ligase complex. (PubMed id 15882621)1, 2, 9 Sugasawa K.... Hanaoka F. (2005)
- Two-stage dynamic DNA quality check by xeroderma pigm entosum group C protein. (PubMed id 19609301)1, 2, 9 Camenisch U....Naegeli H. (2009)
- Structural, thermodynamic, and cellular characterization of human centrin 2 interaction with xeroderma pigmentosum group C protein. (PubMed id 17897675)1, 2, 9 Charbonnier J.B....Craescu C.T. (2007)
- Centrin 2 stimulates nucleotide excision repair by interacting with xeroderma pigmentosum group C protein. (PubMed id 15964821)1, 2, 9 Nishi R....Hanaoka F. (2005)
- XPC and human homologs of RAD23: intracellular localization and relationship to other nucleotide excision repair complexes. (PubMed id 8692695)1, 2, 9 van der Spek P.J....Hoeijmakers J.H. (1996)
- The XPC poly-AT polymorphism in non-melanoma skin cancer. (PubMed id 15863269)1, 4, 9 Nelson H.H....Karagas M.R. (2005)
|
External Searches for XPC gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing XPC gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing XPC gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing XPC gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for XPC | Pharmacogenomics, SNPs, Pathways | | 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.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/XPC | | NIEHS-SNPs | http://egp.gs.washington.edu/data/xpc/ |
|
| | |
About This Section
| Patent Information for XPC gene:
Search GeneIP for patents involving XPC
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for XPC gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
About This Section
|
 | |
 | |
 |
| | |  | Browse OriGene Antibodies | | OriGene shRNA RFP for XPC | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for XPC | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for XPC | | | Browse OriGene Protein Over-expression Lysates | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for XPC | | OriGene 3'-UTR Clone for XPC | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for XPC | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for XPC | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | | OriGene Custom Antibody Services for XPC | | OriGene Custom Protein Services for XPC | | | OriGene Custom Immunoassay Development | | |
| |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat XPC | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing XPC | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat XPC | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat XPC | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat XPC | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat XPC |
| |
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| | | | Search Tocris compounds for XPC |
| |  |  |  |  | | | | |
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 | | | XPC Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for XPC |
|  |  |  |  | | | | ThermoFisher Antibody for XPC |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat XPC |
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