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XPC xeroderma pigmentosum, complementation group C [ Homo sapiens (human) ]

Gene ID: 7508, updated on 30-Oct-2014
Official Symbol
XPCprovided by HGNC
Official Full Name
xeroderma pigmentosum, complementation group Cprovided by HGNC
Primary source
HGNC:HGNC:12816
See related
Ensembl:ENSG00000154767; HPRD:02046; MIM:613208; Vega:OTTHUMG00000155526
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
XP3; RAD4; XPCC; p125
Summary
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]
Location:
3p25.1
Exon count:
16
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 3 NC_000003.12 (14145147..14178672, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (14186647..14220172, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene coiled-coil-helix-coiled-coil-helix domain containing 4 Neighboring gene transmembrane protein 43 Neighboring gene LSM3 homolog, U6 small nuclear RNA associated (S. cerevisiae) Neighboring gene long intergenic non-protein coding RNA 1267

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • DNA Damage Recognition in GG-NER, organism-specific biosystem (from REACTOME)
    DNA Damage Recognition in GG-NER, organism-specific biosystemSeveral subunits of the NER multiprotein repair machinery are required for the recognition of damage in DNA. Mainly, XPC, HR23B, XPA and RPA are implicated in this process. XPA and RPA are thought to...
  • DNA Repair, organism-specific biosystem (from REACTOME)
    DNA Repair, organism-specific biosystemDNA repair is a phenomenal multi-enzyme, multi-pathway system required to ensure the integrity of the cellular genome. These cellular mechanisms that must cope with the plethora of DNA base pair ad...
  • Dual incision reaction in GG-NER, organism-specific biosystem (from REACTOME)
    Dual incision reaction in GG-NER, organism-specific biosystemDual incision at defined positions flanking the DNA damage is carried out by XPG (3' -incision) and ERCC1-XPF (5'-incision) complex. The resulting excised fragment is ~27-30 bp long and contains the...
  • Formation of incision complex in GG-NER, organism-specific biosystem (from REACTOME)
    Formation of incision complex in GG-NER, organism-specific biosystemBinding of XPC complex to the damaged site on the DNA substrate is followed by XPA and RPA recruitment. XPA is a metalloprotein that binds to different types of DNA damage. Binding of RPA, or Replic...
  • Global Genomic NER (GG-NER), organism-specific biosystem (from REACTOME)
    Global Genomic NER (GG-NER), organism-specific biosystemGG-NER is considered to be transcription-independent, removing lesions from non-transcribed regions of genome in addition to non-transcribed strands of transcribed regions. The three events that char...
  • Nucleotide Excision Repair, organism-specific biosystem (from REACTOME)
    Nucleotide Excision Repair, organism-specific biosystemNER was first described in the model organism E. coli in the early 1960s as a process whereby bulky base damage is enzymatically removed from DNA, facilitating the recovery of DNA synthesis and cell ...
  • Nucleotide excision repair, organism-specific biosystem (from KEGG)
    Nucleotide excision repair, organism-specific biosystemNucleotide excision repair (NER) is a mechanism to recognize and repair bulky DNA damage caused by compounds, environmental carcinogens, and exposure to UV-light. In humans hereditary defects in the ...
  • Nucleotide excision repair, conserved biosystem (from KEGG)
    Nucleotide excision repair, conserved biosystemNucleotide excision repair (NER) is a mechanism to recognize and repair bulky DNA damage caused by compounds, environmental carcinogens, and exposure to UV-light. In humans hereditary defects in the ...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
bubble DNA binding TAS
Traceable Author Statement
more info
PubMed 
damaged DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
heteroduplex DNA loop binding TAS
Traceable Author Statement
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
single-stranded DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
DNA repair TAS
Traceable Author Statement
more info
 
intra-S DNA damage checkpoint IEA
Inferred from Electronic Annotation
more info
 
nucleotide-excision repair IDA
Inferred from Direct Assay
more info
PubMed 
nucleotide-excision repair TAS
Traceable Author Statement
more info
 
nucleotide-excision repair, DNA damage recognition IDA
Inferred from Direct Assay
more info
PubMed 
nucleotide-excision repair, DNA damage recognition TAS
Traceable Author Statement
more info
 
nucleotide-excision repair, DNA damage removal TAS
Traceable Author Statement
more info
 
regulation of mitotic cell cycle phase transition IMP
Inferred from Mutant Phenotype
more info
PubMed 
response to UV-B IEA
Inferred from Electronic Annotation
more info
 
response to drug IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
XPC complex IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
extracellular vesicular exosome IDA
Inferred from Direct Assay
more info
 
nucleolus IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IDA
Inferred from Direct Assay
more info
 
plasma membrane IDA
Inferred from Direct Assay
more info
 
Preferred Names
DNA repair protein complementing XP-C cells
Names
DNA repair protein complementing XP-C cells
mutant xeroderma pigmentosum group C

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_011763.1 

    Range
    5001..38526
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_472

mRNA and Protein(s)

  1. NM_004628.4NP_004619.3  DNA repair protein complementing XP-C cells

    See proteins identical to NP_004619.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the supported protein.
    Source sequence(s)
    AI091587, AK222844, D21089
    Consensus CDS
    CCDS46763.1
    UniProtKB/Swiss-Prot
    Q01831
    UniProtKB/TrEMBL
    X5DRB1
    Related
    ENSP00000285021, OTTHUMP00000218039, ENST00000285021, OTTHUMT00000340517
    Conserved Domains (6) summary
    smart01032
    Location:751825
    BHD_3; Rad4 beta-hairpin domain 3
    smart01030
    Location:630681
    BHD_1; Rad4 beta-hairpin domain 1
    TIGR00605
    Location:147867
    rad4; DNA repair protein rad4
    pfam03835
    Location:515626
    Rad4; Rad4 transglutaminase-like domain
    pfam10404
    Location:684744
    BHD_2; Rad4 beta-hairpin domain 2
    cl00936
    Location:355499
    RecX; RecX family

RNA

  1. NR_027299.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant lacks an internal exon, which results in frame-shift and an upstream stop codon, as compared to variant 1. The transcript is a nonsense-mediated mRNA decay (NMD) candidate, and is unlikely to make a functional protein.
    Source sequence(s)
    AI091587, AK222844, AK311039, D21089

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000003.12 

    Range
    14145147..14178672
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RNA

  1. XR_427290.1 RNA Sequence

Alternate HuRef

Genomic

  1. AC_000135.1 

    Range
    14121624..14155151
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018914.2 

    Range
    14137033..14170557
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001145769.1: Suppressed sequence

    Description
    NM_001145769.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.