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Aliases for XPC Gene

Aliases for XPC Gene

  • Xeroderma Pigmentosum, Complementation Group C 2 3 5
  • P125 3 4
  • XPCC 3 4
  • Xeroderma Pigmentosum Group C-Complementing Protein 4
  • Xeroderma Pigmentosum Group C Protein 2
  • Mutant Xeroderma Pigmentosum Group C 3
  • RAD4 3
  • XP3 3

External Ids for XPC Gene

Previous GeneCards Identifiers for XPC Gene

  • GC03M014115

Summaries for XPC Gene

Entrez Gene Summary for XPC Gene

  • This gene encodes a component of the nucleotide excision repair (NER) pathway. There are multiple components involved in the NER pathway, including Xeroderma pigmentosum (XP) A-G and V, Cockayne syndrome (CS) A and B, and trichothiodystrophy (TTD) group A, etc. This component, XPC, plays an important role in the early steps of global genome NER, especially in damage recognition, open complex formation, and repair protein complex formation. Mutations in this gene or some other NER components result in Xeroderma pigmentosum, a rare autosomal recessive disorder characterized by increased 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, Mar 2009]

GeneCards Summary for XPC Gene

XPC (Xeroderma Pigmentosum, Complementation Group C) is a Protein Coding gene. Diseases associated with XPC include Xeroderma Pigmentosum, Group C and Xpc-Related Xeroderma Pigmentosum. Among its related pathways are p53 Pathway (RnD) and Transcription-Coupled Nucleotide Excision Repair (TC-NER). GO annotations related to this gene include single-stranded DNA binding and bubble DNA binding.

UniProtKB/Swiss-Prot for XPC Gene

  • Involved in global genome nucleotide excision repair (GG-NER) by acting as damage sensing and DNA-binding factor component of the XPC complex. Has only a low DNA repair activity by itself which is stimulated by RAD23B and RAD23A. 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 for non-hydrogen-bonded bases by forming a transient nucleoprotein intermediate complex which matures into a stable recognition complex through an intrinsic single-stranded DNA-binding activity.

  • The XPC complex is proposed to represent the first factor bound at the sites of DNA damage and together with other 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 such as single-stranded loops, mismatched bubbles or single-stranded overhangs. The orientation of XPC complex binding appears to be crucial for inducing a productive NER. XPC complex is proposed to recognize and to interact with unpaired bases on the undamaged DNA strand which is followed by recruitment of the TFIIH complex and subsequent scanning for lesions in the opposite strand in a 5-to-3 direction by the NER machinery. Cyclobutane pyrimidine dimers (CPDs) which are formed upon UV-induced DNA damage esacpe detection by the XPC complex due to a low degree of structural perurbation. Instead they are detected by the UV-DDB complex which in turn recruits and cooperates with the XPC complex in the respective DNA repair. In vitro, the XPC:RAD23B dimer is sufficient to initiate NER; it preferentially binds to cisplatin and UV-damaged double-stranded DNA and also binds to a variety of chemically and structurally diverse DNA adducts. XPC:RAD23B contacts DNA both 5 and 3 of a cisplatin lesion with a preference for the 5 side. XPC:RAD23B induces a bend in DNA upon binding. XPC:RAD23B stimulates the activity of DNA glycosylases TDG and SMUG1.

Gene Wiki entry for XPC Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for XPC Gene

Genomics for XPC Gene

Regulatory Elements for XPC Gene

Enhancers for XPC Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around XPC on UCSC Golden Path with GeneCards custom track

Promoters for XPC Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around XPC on UCSC Golden Path with GeneCards custom track

Genomic Location for XPC Gene

Chromosome:
3
Start:
14,145,147 bp from pter
End:
14,178,783 bp from pter
Size:
33,637 bases
Orientation:
Minus strand

Genomic View for XPC Gene

Genes around XPC on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
XPC Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for XPC Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for XPC Gene

Proteins for XPC Gene

  • Protein details for XPC Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q01831-XPC_HUMAN
    Recommended name:
    DNA repair protein complementing XP-C cells
    Protein Accession:
    Q01831
    Secondary Accessions:
    • B4DIP3
    • E9PB96
    • E9PH69
    • Q53GT7
    • Q96AX0

    Protein attributes for XPC Gene

    Size:
    940 amino acids
    Molecular mass:
    105953 Da
    Quaternary structure:
    • Component of the XPC complex composed of XPC, RAD23B and CETN2. Interacts with RAD23A; the interaction is suggesting the existence of a functional equivalent variant XPC complex. Interacts with TDG; the interaction is demonstrated using the XPC:RAD23B dimer. Interacts with SMUG1; the interaction is demonstrated using the XPC:RAD23B dimer. Interacts with DDB2. Interacts with CCNH, GTF2H1 and ERCC3.

    Three dimensional structures from OCA and Proteopedia for XPC Gene

    Alternative splice isoforms for XPC Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for XPC Gene

Proteomics data for XPC Gene at MOPED

Post-translational modifications for XPC Gene

  • Ubiquitinated upon UV irradiation; the ubiquitination requires the UV-DDB complex, appears to be reversible and does not serve as a signal for degradation.
  • Ubiquitination at Lys 174, Lys 183, Lys 750, and Lys 849
  • Modification sites at PhosphoSitePlus

Other Protein References for XPC Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for XPC (XPC)
  • Abcam antibodies for XPC

No data available for DME Specific Peptides for XPC Gene

Domains & Families for XPC Gene

Gene Families for XPC Gene

Graphical View of Domain Structure for InterPro Entry

Q01831

UniProtKB/Swiss-Prot:

XPC_HUMAN :
  • Belongs to the XPC family.
Family:
  • Belongs to the XPC family.
genes like me logo Genes that share domains with XPC: view

Function for XPC Gene

Molecular function for XPC Gene

GENATLAS Biochemistry:
component p125 (125kDa) of genome overall nucleotide excision repair complex,in tight association with UBE3B (RAD23B)
UniProtKB/Swiss-Prot Function:
Involved in global genome nucleotide excision repair (GG-NER) by acting as damage sensing and DNA-binding factor component of the XPC complex. Has only a low DNA repair activity by itself which is stimulated by RAD23B and RAD23A. 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 for non-hydrogen-bonded bases by forming a transient nucleoprotein intermediate complex which matures into a stable recognition complex through an intrinsic single-stranded DNA-binding activity.
UniProtKB/Swiss-Prot Function:
The XPC complex is proposed to represent the first factor bound at the sites of DNA damage and together with other 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 such as single-stranded loops, mismatched bubbles or single-stranded overhangs. The orientation of XPC complex binding appears to be crucial for inducing a productive NER. XPC complex is proposed to recognize and to interact with unpaired bases on the undamaged DNA strand which is followed by recruitment of the TFIIH complex and subsequent scanning for lesions in the opposite strand in a 5-to-3 direction by the NER machinery. Cyclobutane pyrimidine dimers (CPDs) which are formed upon UV-induced DNA damage esacpe detection by the XPC complex due to a low degree of structural perurbation. Instead they are detected by the UV-DDB complex which in turn recruits and cooperates with the XPC complex in the respective DNA repair. In vitro, the XPC:RAD23B dimer is sufficient to initiate NER; it preferentially binds to cisplatin and UV-damaged double-stranded DNA and also binds to a variety of chemically and structurally diverse DNA adducts. XPC:RAD23B contacts DNA both 5 and 3 of a cisplatin lesion with a preference for the 5 side. XPC:RAD23B induces a bend in DNA upon binding. XPC:RAD23B stimulates the activity of DNA glycosylases TDG and SMUG1.

Gene Ontology (GO) - Molecular Function for XPC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0003697 single-stranded DNA binding IDA 12509299
genes like me logo Genes that share ontologies with XPC: view
genes like me logo Genes that share phenotypes with XPC: view

Human Phenotype Ontology for XPC Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for XPC Gene

MGI Knock Outs for XPC:

Animal Model Products

miRNA for XPC Gene

miRTarBase miRNAs that target XPC

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for XPC Gene

Localization for XPC Gene

Subcellular locations from UniProtKB/Swiss-Prot for XPC Gene

Nucleus. Cytoplasm. Note=Omnipresent in the nucleus and consistently associates with and dissociates from DNA in the absence of DNA damage. Continuously shuttles between the cytoplasm and the nucleus, which is impeded by the presence of NER lesions.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for XPC Gene COMPARTMENTS Subcellular localization image for XPC gene
Compartment Confidence
extracellular 5
nucleus 5
plasma membrane 5
cytosol 2
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for XPC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005730 nucleolus IDA --
GO:0005886 plasma membrane IDA --
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with XPC: view

Pathways & Interactions for XPC Gene

genes like me logo Genes that share pathways with XPC: view

Pathways by source for XPC Gene

1 R&D Systems pathway for XPC Gene

SIGNOR curated interactions for XPC Gene

Is activated by:

Gene Ontology (GO) - Biological Process for XPC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000715 nucleotide-excision repair, DNA damage recognition TAS --
GO:0006281 DNA repair TAS 1522891
GO:0006294 nucleotide-excision repair, preincision complex assembly TAS --
GO:0006974 cellular response to DNA damage stimulus IEA --
GO:0010996 response to auditory stimulus IEA --
genes like me logo Genes that share ontologies with XPC: view

Drugs & Compounds for XPC Gene

(7) Drugs for XPC Gene - From: PharmGKB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Cisplatin Approved Pharma Inhibits DNA synthesis,chemotherapy drug, Platinum 2569

(6) Additional Compounds for XPC Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with XPC: view

Transcripts for XPC Gene

Unigene Clusters for XPC Gene

Xeroderma pigmentosum, complementation group C:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for XPC Gene

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: -
SP6:
SP7:
SP8:

ExUns: 15a · 15b ^ 16a · 16b ^ 17a · 17b
SP1: - -
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:

Relevant External Links for XPC Gene

GeneLoc Exon Structure for
XPC
ECgene alternative splicing isoforms for
XPC

Expression for XPC Gene

mRNA expression in normal human tissues for XPC Gene

Protein differential expression in normal tissues from HIPED for XPC Gene

This gene is overexpressed in Tlymphocyte (14.1), Peripheral blood mononuclear cells (9.6), and Pancreas (8.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for XPC Gene



SOURCE GeneReport for Unigene cluster for XPC Gene Hs.475538

genes like me logo Genes that share expression patterns with XPC: view

Protein tissue co-expression partners for XPC Gene

- Elite partner

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for XPC Gene

Orthologs for XPC Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for XPC Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia XPC 35
  • 77.91 (n)
  • 74.68 (a)
XPC 36
  • 75 (a)
OneToOne
dog
(Canis familiaris)
Mammalia XPC 35
  • 83.53 (n)
  • 77.53 (a)
XPC 36
  • 77 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Xpc 35
  • 78.63 (n)
  • 74.35 (a)
Xpc 16
Xpc 36
  • 75 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia XPC 35
  • 99.01 (n)
  • 98.19 (a)
XPC 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Xpc 35
  • 79.94 (n)
  • 75.46 (a)
oppossum
(Monodelphis domestica)
Mammalia XPC 36
  • 65 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia XPC 36
  • 47 (a)
OneToOne
chicken
(Gallus gallus)
Aves XPC 35
  • 66.25 (n)
  • 64.74 (a)
XPC 36
  • 58 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia XPC 36
  • 55 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia xpc 35
  • 60.98 (n)
  • 59.75 (a)
zebrafish
(Danio rerio)
Actinopterygii xpc 35
  • 56.57 (n)
  • 53.57 (a)
xpc 36
  • 47 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta mus210 37
  • 49 (a)
mus210 36
  • 21 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea Y76B12C.2 37
  • 39 (a)
xpc-1 36
  • 20 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RAD4 36
  • 21 (a)
OneToOne
RAD4 38
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 26 (a)
OneToMany
-- 36
  • 46 (a)
OneToMany
Species with no ortholog for XPC:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for XPC Gene

ENSEMBL:
Gene Tree for XPC (if available)
TreeFam:
Gene Tree for XPC (if available)

Paralogs for XPC Gene

No data available for Paralogs for XPC Gene

Variants for XPC Gene

Sequence variations from dbSNP and Humsavar for XPC Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs74737358 Xeroderma pigmentosum complementation group C (XP-C) 14,158,882(+) TGGAA(A/C/G/T)GTTTC nc-transcript-variant, reference, missense
rs2228001 - 14,145,949(-) TTGAG(A/C)AGCTG nc-transcript-variant, reference, missense
VAR_018894 -
VAR_018895 -
rs3731063 - 14,172,909(-) CCTCA(A/G)GGTTA nc-transcript-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for XPC Gene

Variant ID Type Subtype PubMed ID
nsv876550 CNV Loss 21882294
esv34163 CNV Loss 18971310
esv2724945 CNV Deletion 23290073
nsv521096 CNV Loss 19592680
esv2724952 CNV Deletion 23290073
esv2208680 CNV Deletion 18987734
esv3070 CNV Deletion 18987735
esv2724953 CNV Deletion 23290073

Variation tolerance for XPC Gene

Residual Variation Intolerance Score: 85.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.75; 57.81% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for XPC Gene

Human Gene Mutation Database (HGMD)
XPC

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for XPC Gene

Disorders for XPC Gene

MalaCards: The human disease database

(13) MalaCards diseases for XPC Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
xeroderma pigmentosum, group c
  • xeroderma pigmentosum, type 3
xpc-related xeroderma pigmentosum
xeroderma pigmentosum, variant type
  • de sanctis-cacchione syndrome
cockayne syndrome
  • cockayne's syndrome
xeroderma pigmentosum, group a
  • xeroderma pigmentosum, type 1
- elite association - COSMIC cancer census association via MalaCards
Search XPC in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

XPC_HUMAN
  • Xeroderma pigmentosum complementation group C (XP-C) [MIM:278720]: An autosomal recessive pigmentary skin disorder characterized by solar hypersensitivity of the skin, high predisposition for developing cancers on areas exposed to sunlight and, in some cases, neurological abnormalities. The skin develops marked freckling and other pigmentation abnormalities. {ECO:0000269 PubMed:10766188, ECO:0000269 PubMed:8298653}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for XPC Gene

xeroderma pigmentosum,group C (common form),with associated TP53 mutations in skin and internal tumors (glioma)

Relevant External Links for XPC

Genetic Association Database (GAD)
XPC
Human Genome Epidemiology (HuGE) Navigator
XPC
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
XPC
genes like me logo Genes that share disorders with XPC: view

Publications for XPC Gene

  1. Expression cloning of a human DNA repair gene involved in Xeroderma pigmentosum group C. (PMID: 1522891) Legerski R.J. … Peterson C.A. (Nature 1992) 2 3 4 67
  2. XPC gene variants: a risk factor for recurrence of urothelial bladder carcinoma in patients on BCG immunotherapy. (PMID: 19924443) Gangwar R. … Mittal R.D. (J. Cancer Res. Clin. Oncol. 2010) 3 23
  3. XPC branch-point sequence mutations disrupt U2 snRNP binding, resulting in abnormal pre-mRNA splicing in xeroderma pigmentosum patients. (PMID: 19953607) Khan S.G. … Kraemer K.H. (Hum. Mutat. 2010) 3 23
  4. XPC gene polymorphisms and risk of idiopathic azoospermia or oligozoospermia in a Chinese population. (PMID: 18067564) Liang J. … Wang X. (Int. J. Androl. 2009) 3 23
  5. XPC initiation codon mutation in xeroderma pigmentosum patients with and without neurological symptoms. (PMID: 18955168) Khan S.G. … Kraemer K.H. (DNA Repair (Amst.) 2009) 3 23

Products for XPC Gene

Sources for XPC Gene

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