XRCC1 (X-ray repair cross complementing 1)

2003-02-01   Dessen P  

Identity

HGNC
XRCC1
LOCATION
19q13.31
LOCUSID
7515
ALIAS
RCC,SCAR26
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

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
381351792024Impact of polβ/XRCC1 Interaction Variants on the Efficiency of Nick Sealing by DNA Ligase IIIα in the Base Excision Repair Pathway.1
382175452024XRCC1: a potential prognostic and immunological biomarker in LGG based on systematic pan-cancer analysis.0
383370012024Correlations of SDF-1ɑ and XRCC1 gene polymorphisms with the risk of renal cancer development and bioinformatics studies of SDF-1α and XRCC1 and the prognosis of renal cancer.0
388984052024Association of XRCC1 p. Arg194Trp gene polymorphism with the risk of hepatocellular carcinoma in HCV Egyptian population: A pilot case-control study.0
381351792024Impact of polβ/XRCC1 Interaction Variants on the Efficiency of Nick Sealing by DNA Ligase IIIα in the Base Excision Repair Pathway.1
382175452024XRCC1: a potential prognostic and immunological biomarker in LGG based on systematic pan-cancer analysis.0
383370012024Correlations of SDF-1ɑ and XRCC1 gene polymorphisms with the risk of renal cancer development and bioinformatics studies of SDF-1α and XRCC1 and the prognosis of renal cancer.0
388984052024Association of XRCC1 p. Arg194Trp gene polymorphism with the risk of hepatocellular carcinoma in HCV Egyptian population: A pilot case-control study.0
361957782023Elucidation of Increased Cervical Cancer Risk Due to Polymorphisms in XRCC1 (R399Q and R194W), ERCC5 (D1104H), and NQO1 (P187S).2
365735622023The XRCC1 Arg194Trp polymorphism was associated with the risk of head and neck squamous cell carcinoma development: Results from a systematic review and meta-analysis.1
368533122023The Relationship between Gene Polymorphisms od the XRCC1 and TP53 with the Gender of Children with Acute Leukemia.1
372472892023Effect of XRCC1 Arg399Gln Gene Polymorphism on Survival in Lymphoblastic Leukemia.1
375227932023Association of RAD51, XRCC1, XRCC2, and XRCC3 Polymorphisms with Risk of Breast Cancer.0
376783292023Association Between the XRCC1, GSTM1, and GSTT1 Polymorphisms in Model of Thyroid Cancer: A Meta-Analysis.1
377740582023Impact of Interaction between Single Nucleotide Polymorphism of XRCC1, XRCC2, XRCC3 with Tumor Suppressor Tp53 Gene Increases Risk of Breast Cancer: A Hospital Based Case-Control Study.2

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-(x-ray-repair-cross-complementing-1)