Human Gene XRCC1 (ENST00000262887.10_7) from GENCODE V47lift37
  Description: X-ray repair cross complementing 1 (from RefSeq NM_006297.3)
Gencode Transcript: ENST00000262887.10_7
Gencode Gene: ENSG00000073050.12_12
Transcript (Including UTRs)
   Position: hg19 chr19:44,047,463-44,079,679 Size: 32,217 Total Exon Count: 17 Strand: -
Coding Region
   Position: hg19 chr19:44,047,544-44,079,610 Size: 32,067 Coding Exon Count: 17 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr19:44,047,463-44,079,679)mRNA (may differ from genome)Protein (633 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: XRCC1_HUMAN
DESCRIPTION: RecName: Full=DNA repair protein XRCC1; AltName: Full=X-ray repair cross-complementing protein 1;
FUNCTION: Corrects defective DNA strand-break repair and sister chromatid exchange following treatment with ionizing radiation and alkylating agents.
SUBUNIT: Homodimer. Interacts with polynucleotide kinase (PNK), DNA polymerase-beta (POLB) and DNA ligase III (LIG3). Interacts with APTX and APLF. Interacts with APEX1; the interaction is induced by SIRT1 and increases with the acetylated form of APEX1.
INTERACTION: Q8IW19:APLF; NbExp=7; IntAct=EBI-947466, EBI-1256044; Q7Z2E3:APTX; NbExp=8; IntAct=EBI-947466, EBI-847814;
SUBCELLULAR LOCATION: Nucleus. Note=Accumulates at sites of DNA damage.
PTM: Phosphorylation of Ser-371 causes dimer dissociation. Phosphorylation by CK2 promotes interaction with APTX and APLF.
PTM: Sumoylated.
POLYMORPHISM: Carriers of the polymorphic Gln-399 allele may be at greater risk for tobacco- and age-related DNA damage.
SIMILARITY: Contains 2 BRCT domains.
WEB RESOURCE: Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/xrcc1/";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: XRCC1
Diseases sorted by gene-association score: spinocerebellar ataxia, autosomal recessive 26* (950), gastric cardia carcinoma (23), xeroderma pigmentosum, group d (20), fibrosclerosis of breast (15), mutagen sensitivity (10), non-proliferative fibrocystic change of the breast (10), oral leukoplakia (7), xeroderma pigmentosum, variant type (7), nasopharyngeal carcinoma (7), senile cataract (6), larynx cancer (6), squamous cell carcinoma (6), xeroderma pigmentosum, group g (6), mucositis (6), sporadic breast cancer (6), barrett's adenocarcinoma (5), acute lymphoblastic leukemia, childhood (5), lung cancer (5), differentiated thyroid carcinoma (3), colorectal cancer (3), autosomal genetic disease (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 25.89 RPKM in Pituitary
Total median expression: 566.90 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -9.2069-0.133 Picture PostScript Text
3' UTR -8.4081-0.104 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001357 - BRCT_dom
IPR008979 - Galactose-bd-like
IPR002706 - Xrcc1_N

Pfam Domains:
PF00533 - BRCA1 C Terminus (BRCT) domain
PF01834 - XRCC1 N terminal domain
PF12738 - twin BRCT domain
PF16589 - BRCT domain, a BRCA1 C-terminus domain

SCOP Domains:
49785 - Galactose-binding domain-like
52113 - BRCT domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1CDZ - X-ray 1XNA - NMR 1XNT - NMR 2D8M - NMR 2W3O - X-ray MuPIT 3K75 - X-ray 3K77 - X-ray 3LQC - X-ray


ModBase Predicted Comparative 3D Structure on P18887
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details Gene Details  
Gene SorterGene Sorter Gene Sorter  
 RGDEnsembl   
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003684 damaged DNA binding
GO:0003909 DNA ligase activity
GO:0005515 protein binding
GO:0019899 enzyme binding
GO:0032356 oxidized DNA binding
GO:1990599 3' overhang single-stranded DNA endodeoxyribonuclease activity

Biological Process:
GO:0000012 single strand break repair
GO:0000724 double-strand break repair via homologous recombination
GO:0001666 response to hypoxia
GO:0006281 DNA repair
GO:0006283 transcription-coupled nucleotide-excision repair
GO:0006284 base-excision repair
GO:0006288 base-excision repair, DNA ligation
GO:0006297 nucleotide-excision repair, DNA gap filling
GO:0006303 double-strand break repair via nonhomologous end joining
GO:0006974 cellular response to DNA damage stimulus
GO:0010033 response to organic substance
GO:0010836 negative regulation of protein ADP-ribosylation
GO:0021587 cerebellum morphogenesis
GO:0021766 hippocampus development
GO:0033194 response to hydroperoxide
GO:0042493 response to drug
GO:0050882 voluntary musculoskeletal movement
GO:0061819 telomeric DNA-containing double minutes formation
GO:1903518 positive regulation of single strand break repair
GO:1904877 positive regulation of DNA ligase activity
GO:1905765 negative regulation of protection from non-homologous end joining at telomere
GO:1990414 replication-born double-strand break repair via sister chromatid exchange

Cellular Component:
GO:0000784 nuclear chromosome, telomeric region
GO:0000790 nuclear chromatin
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005730 nucleolus
GO:0070522 ERCC4-ERCC1 complex


-  Descriptions from all associated GenBank mRNAs
  M36089 - Human DNA-repair protein (XRCC1) mRNA, complete cds.
BC023593 - Homo sapiens X-ray repair complementing defective repair in Chinese hamster cells 1, mRNA (cDNA clone MGC:23349 IMAGE:4646806), complete cds.
AB208781 - Homo sapiens mRNA for X-ray repair cross complementing protein 1 variant protein.
AK300163 - Homo sapiens cDNA FLJ50209 complete cds, highly similar to DNA-repair protein XRCC1.
LF384227 - JP 2014500723-A/191730: Polycomb-Associated Non-Coding RNAs.
AK315332 - Homo sapiens cDNA, FLJ96373, highly similar to Homo sapiens X-ray repair complementing defective repair in Chinese hamster cells 1 (XRCC1), mRNA.
AB384718 - Synthetic construct DNA, clone: pF1KB3003, Homo sapiens XRCC1 gene for DNA-repair protein XRCC1, complete cds, without stop codon, in Flexi system.
CR456728 - Homo sapiens full open reading frame cDNA clone RZPDo834H1014D for gene XRCC1, X-ray repair complementing defective repair in Chinese hamster cells 1; complete cds, incl. stopcodon.
LF367056 - JP 2014500723-A/174559: Polycomb-Associated Non-Coding RNAs.
LF367055 - JP 2014500723-A/174558: Polycomb-Associated Non-Coding RNAs.
LF367054 - JP 2014500723-A/174557: Polycomb-Associated Non-Coding RNAs.
AK293542 - Homo sapiens cDNA FLJ56491 complete cds, highly similar to DNA-repair protein XRCC1.
LF367053 - JP 2014500723-A/174556: Polycomb-Associated Non-Coding RNAs.
LF367052 - JP 2014500723-A/174555: Polycomb-Associated Non-Coding RNAs.
LF367051 - JP 2014500723-A/174554: Polycomb-Associated Non-Coding RNAs.
MA619804 - JP 2018138019-A/191730: Polycomb-Associated Non-Coding RNAs.
MA602633 - JP 2018138019-A/174559: Polycomb-Associated Non-Coding RNAs.
MA602632 - JP 2018138019-A/174558: Polycomb-Associated Non-Coding RNAs.
MA602631 - JP 2018138019-A/174557: Polycomb-Associated Non-Coding RNAs.
MA602630 - JP 2018138019-A/174556: Polycomb-Associated Non-Coding RNAs.
MA602629 - JP 2018138019-A/174555: Polycomb-Associated Non-Coding RNAs.
MA602628 - JP 2018138019-A/174554: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein P18887 (Reactome details) participates in the following event(s):

R-HSA-110376 Recruitment of LIG3:XRCC1 complex to the site of repair by POLB
R-HSA-5649726 LIG3:XRCC1 and PNKP bind NEIL1,NEIL2:POLB:SSB(3'Pi)-gap-dsDNA
R-HSA-5687673 MRN recruits LIG3:XRCC1 to MMEJ sites
R-HSA-110380 Dissociation of LIG3:XRCC1 complex from the BER site
R-HSA-5649724 LIG3:XRCC1, POLB, NEIL1,NEIL2 and PNKP dissociate from the BER site
R-HSA-5687675 LIG3 ligates remaining SSBs in MMEJ
R-HSA-73932 Resynthesis of excised residue by POLB
R-HSA-73931 LIG3-mediated DNA ligation via the single-nucleotide replacement pathway
R-HSA-5649734 LIG3 ligates NEIL1,NEIL2-generated single strand break
R-HSA-5649705 PNKP hydrolyzes the terminal 3'Pi at the NEIL1,NEIL2-generated single strand break (SSB)
R-HSA-5649723 POLB incorporates a single nucleotide in place of excised AP residue in NEIL1,NEIL2-mediated AP site resolution
R-HSA-5690997 Ligation of newly synthesized repair patch to incised DNA in GG-NER
R-HSA-6782227 Ligation of newly synthesized repair patch to incised DNA in TC-NER
R-HSA-110381 Resolution of AP sites via the single-nucleotide replacement pathway
R-HSA-5649702 APEX1-Independent Resolution of AP Sites via the Single Nucleotide Replacement Pathway
R-HSA-5685939 HDR through MMEJ (alt-NHEJ)
R-HSA-73933 Resolution of Abasic Sites (AP sites)
R-HSA-5693538 Homology Directed Repair
R-HSA-5696397 Gap-filling DNA repair synthesis and ligation in GG-NER
R-HSA-6782210 Gap-filling DNA repair synthesis and ligation in TC-NER
R-HSA-73884 Base Excision Repair
R-HSA-5693532 DNA Double-Strand Break Repair
R-HSA-5696399 Global Genome Nucleotide Excision Repair (GG-NER)
R-HSA-6781827 Transcription-Coupled Nucleotide Excision Repair (TC-NER)
R-HSA-73894 DNA Repair
R-HSA-5696398 Nucleotide Excision Repair

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000262887.1, ENST00000262887.2, ENST00000262887.3, ENST00000262887.4, ENST00000262887.5, ENST00000262887.6, ENST00000262887.7, ENST00000262887.8, ENST00000262887.9, NM_006297, P18887, Q6IBS4, Q9HCB1, uc317hei.1, uc317hei.2, XRCC1 , XRCC1_HUMAN
UCSC ID: ENST00000262887.10_7
RefSeq Accession: NM_006297.3
Protein: P18887 (aka XRCC1_HUMAN or XRC1_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.