XRCC1 (X-ray repair cross complementing 1)

2003-02-01  

Identity

HGNC
LOCATION
19q13.31
LOCUSID
ALIAS
RCC,SCAR26
FUSION GENES

Other Information

Locus ID:

NCBI: 7515
MIM: 194360
HGNC: 12828
Ensembl: ENSG00000073050

Variants:

dbSNP: 7515
ClinVar: 7515
TCGA: ENSG00000073050
COSMIC: XRCC1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000073050ENST00000262887P18887
ENSG00000073050ENST00000543982F5H8D7
ENSG00000073050ENST00000594107M0R0D2
ENSG00000073050ENST00000597811M0QZ96
ENSG00000073050ENST00000598165M0QYS5
ENSG00000073050ENST00000599693M0R1U8

Expression (GTEx)

0
10
20
30
40
50
60

Pathways

PathwaySourceExternal ID
Base excision repairKEGGko03410
Base excision repairKEGGhsa03410
BER complexKEGGhsa_M00296
BER complexKEGGM00296
DNA RepairREACTOMER-HSA-73894
Base Excision RepairREACTOMER-HSA-73884
Resolution of Abasic Sites (AP sites)REACTOMER-HSA-73933
Resolution of AP sites via the single-nucleotide replacement pathwayREACTOMER-HSA-110381
APEX1-Independent Resolution of AP Sites via the Single Nucleotide Replacement PathwayREACTOMER-HSA-5649702
DNA Double-Strand Break RepairREACTOMER-HSA-5693532
Homology Directed RepairREACTOMER-HSA-5693538
HDR through MMEJ (alt-NHEJ)REACTOMER-HSA-5685939
Nucleotide Excision RepairREACTOMER-HSA-5696398
Global Genome Nucleotide Excision Repair (GG-NER)REACTOMER-HSA-5696399
Gap-filling DNA repair synthesis and ligation in GG-NERREACTOMER-HSA-5696397
Transcription-Coupled Nucleotide Excision Repair (TC-NER)REACTOMER-HSA-6781827
Gap-filling DNA repair synthesis and ligation in TC-NERREACTOMER-HSA-6782210

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA128406956fluorouracilChemicalClinicalAnnotationassociatedPD23314736
PA164713176Platinum compoundsChemicalClinicalAnnotationassociatedPD16875718, 19362955, 19786980, 21057378, 22026922, 22188361, 22821704, 24224851, 24446315, 27636246, 29662106
PA443560Breast NeoplasmsDiseaseClinicalAnnotationassociatedPD
PA443622Carcinoma, Non-Small-Cell LungDiseaseClinicalAnnotationassociatedPD22188361, 22821704, 24446315, 29662106
PA443685Uterine Cervical NeoplasmsDiseaseClinicalAnnotationassociatedPD23314736
PA443756Colonic NeoplasmsDiseaseClinicalAnnotationassociatedPD23314736
PA445062NeoplasmsDiseaseClinicalAnnotationassociatedPD16875718, 19362955, 19786980, 21057378, 22026922, 22188361, 23314736, 24224851, 24446315, 27636246, 29662106
PA445204Ovarian NeoplasmsDiseaseClinicalAnnotationassociatedPD19786980, 22188361
PA445503Rectal NeoplasmsDiseaseClinicalAnnotationassociatedPD23314736
PA446108Colorectal NeoplasmsDiseaseClinicalAnnotationassociatedPD23314736
PA449165cyclophosphamideChemicalClinicalAnnotationassociatedPD19786980, 22188361
PA449412doxorubicinChemicalClinicalAnnotationassociatedPD

References

Pubmed IDYearTitleCitations
154987782004Involvement of poly(ADP-ribose) polymerase-1 and XRCC1/DNA ligase III in an alternative route for DNA double-strand breaks rejoining.229
162218082005Genetic polymorphisms in the base excision repair pathway and cancer risk: a HuGE review.120
162218082005Genetic polymorphisms in the base excision repair pathway and cancer risk: a HuGE review.120
176433792007Sealing of chromosomal DNA nicks during nucleotide excision repair requires XRCC1 and DNA ligase III alpha in a cell-cycle-specific manner.115
161952372006Polymorphisms of DNA repair genes and risk of non-small cell lung cancer.112
185091812008Predictive biomarkers of chemotherapy efficacy in colorectal cancer: results from the UK MRC FOCUS trial.96
115328662001XRCC1, XRCC3, XPD gene polymorphisms, smoking and (32)P-DNA adducts in a sample of healthy subjects.91
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
157461602005Constitutional short telomeres are strong genetic susceptibility markers for bladder cancer.83
170187852006Commonly studied single-nucleotide polymorphisms and breast cancer: results from the Breast Cancer Association Consortium.83

Citation

Dessen P

XRCC1 (X-ray repair cross complementing 1)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/42847/xrcc1