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XRCC1 Gene

protein-coding GIFtS: 67
GCID: GC19M044047

X-Ray Repair Complementing Defective Repair In Chinese Hamster...

(Previous symbol: RCC)

See XRCC1-related diseases
at

MalaCards

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
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Aliases
X-Ray Repair Complementing Defective Repair In Chinese Hamster Cells 1¹ ²
RCC¹ ²
X-Ray Repair Cross-Complementing Protein 1² ³
DNA Repair Protein XRCC1²

External Ids:	HGNC: 12828¹	Entrez Gene: 7515²	Ensembl: ENSG00000073050⁷	OMIM: 194360⁵	UniProtKB: P18887³

Export aliases for XRCC1 gene to outside databases

Previous GC identifers: GC19M044692 GC19M044439 GC19M048723 GC19M048739 GC19M040478

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for XRCC1 Gene:

The protein encoded by this gene is involved in the efficient repair of DNA single-strand breaks formed by

exposure to ionizing radiation and alkylating agents. This protein interacts with DNA ligase III, polymerase beta

and poly (ADP-ribose) polymerase to participate in the base excision repair pathway. It may play a role in DNA

processing during meiogenesis and recombination in germ cells. A rare microsatellite polymorphism in this gene is

associated with cancer in patients of varying radiosensitivity. (provided by RefSeq, Jul 2008)

GeneCards Summary for XRCC1 Gene:

XRCC1 (X-ray repair complementing defective repair in Chinese hamster cells 1) is a protein-coding gene. Diseases associated with XRCC1 include cardia cancer, and gastric cardia carcinoma. GO annotations related to this gene include damaged DNA binding. An important paralog of this gene is LOC100133315.

UniProtKB/Swiss-Prot: XRCC1_HUMAN, P18887

Function: Corrects defective DNA strand-break repair and sister chromatid exchange following treatment with

ionizing radiation and alkylating agents

Gene Wiki entry for XRCC1 Gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:

NC_000019.9 NC_018930.2 NT_011109.17

Regulatory elements:

Regulatory transcription factor binding sites in the XRCC1 gene promoter:
STAT1 STAT1beta CUTL1 LCR-F1 AP-2gamma NF-kappaB COMP1 c-Myb NF-kappaB1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see first 1): XRCC1 promoter sequences (S720939 S720986)

Search Chromatin IP Primers for XRCC1

Epigenetics:

DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat XRCC1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 19q13.2 Ensembl cytogenetic band: 19q13.31 HGNC cytogenetic band: 19q13.2

XRCC1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
XRCC1 gene location

GeneLoc information about chromosome 19 GeneLoc Exon Structure

GeneLoc location for GC19M044047: view genomic region (about GC identifiers)

Start:	44,047,192 bp from pter	End:	44,084,625 bp from pter
Size:	37,434 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, ²neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: XRCC1_HUMAN, P18887 (See protein sequence)

Recommended Name: DNA repair protein XRCC1

Size: 633 amino acids; 69477 Da

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

Selected PDB 3D structures from and Proteopedia for XRCC1 (see all 8):

1CDZ (3D)

1XNA (3D)

1XNT (3D)

2D8M (3D)

2W3O (3D)

3K75 (3D)

Secondary accessions: Q6IBS4 Q9HCB1

Explore the universe of human proteins at neXtProt for XRCC1: NX_P18887

Explore proteomics data for XRCC1 at MOPED

Post-translational modifications:

Phosphorylation of Ser-371 causes dimer dissociation. Phosphorylation by CK2 promotes interaction with APTX and

APLF¹

Sumoylated¹

Glycosylation² at Thr296, Thr440, Ser446, Ser447, Thr453

Modification sites at PhosphoSitePlus

See XRCC1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_006288.2

ENSEMBL proteins:

ENSP00000262887 ENSP00000443671 ENSP00000470391 ENSP00000470045 ENSP00000472128

ENSP00000471159

Reactome Protein details: P18887

XRCC1 Human Recombinant Protein Products:

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	antibodies-online proteins for XRCC1 (6 products)
	antibodies-online peptides for XRCC1

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	Cloud-Clone Corp. ELISAs for XRCC1 Cloud-Clone Corp. CLIAs for XRCC1
	Search eBioscience for ELISAs for XRCC1
	antibodies-online kits for XRCC1 (7 products)

(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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3 InterPro protein domains:

IPR008979 Galactose-bd-like

IPR002706 Xrcc1_N

IPR001357 BRCT_dom

Graphical View of Domain Structure for InterPro Entry P18887

ProtoNet protein and cluster: P18887

2 Blocks protein domains:

IPB001357 BRCT domain

IPB002706 DNA-repair protein Xrcc1

UniProtKB/Swiss-Prot: XRCC1_HUMAN, P18887

Similarity: Contains 2 BRCT domains

Find genes that share domains with XRCC1 About GenesLikeMe

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

UniProtKB/Swiss-Prot Summary: XRCC1_HUMAN, P18887

Function: Corrects defective DNA strand-break repair and sister chromatid exchange following treatment with

ionizing radiation and alkylating agents

Genatlas biochemistry entry for XRCC1:

repair X-ray defect,complementing defect in CHO cells,1,involved in single-strand DNA break

rejoining,susceptibility gene for squamous cell carcinoma of the head and neck

Gene Ontology (GO): 2 molecular function terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003684	damaged DNA binding	IEA	--
GO:0005515	protein binding	IPI	14755728

Find genes that share ontologies with XRCC1 About GenesLikeMe

Phenotypes:
4 GenomeRNAi human phenotypes for XRCC1:

Decreased NANOG protein expres

Decreased OCT4 protein express

Decreased POU5F1-GFP protein e

Synthetic lethal with Ras

9 MGI mutant phenotypes (inferred from 3 alleles) (MGI details for Xrcc1):

behavior/neurological	cellular	embryogenesis	growth/size/body	homeostasis/metabolism
mortality/aging	nervous system	normal	tumorigenesis

Find genes that share phenotypes with XRCC1 About GenesLikeMe

Animal Models:
MGI mouse knock-out Xrcc1^tm1Rpe for XRCC1

genOway: Develop your customized and physiologically relevant rodent model for XRCC1

miRNA Products:		miRTarBase miRNAs that target XRCC1: hsa-mir-92b-3p (MIRT040679), hsa-mir-186-5p (MIRT045144), hsa-mir-193b-3p (MIRT041371), hsa-mir-34a-5p (MIRT025546)

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Gene Editing
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		GenScript: all cDNA clones in your preferred vector: XRCC1 (NM_006297)
		Browse Sino Biological Human cDNA Clones
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		Addgene plasmids for XRCC1

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for XRCC1

Flow Cytometry
Products:

eBioscience FlowRNA Probe Sets ( VA1-12071) for XRCC1

(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot

XRCC1_HUMAN, P18887: Nucleus. Note=Accumulates at sites of DNA damage

Subcellular locations from COMPARTMENTS:

Compartment	Confidence
nucleus	5
cytosol	1
mitochondrion	1

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Gene Ontology (GO): 2 cellular component terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	IDA	--
GO:0005654	nucleoplasm	TAS	--

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(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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SuperPaths for XRCC1 About (see all 6)

See pathways by source

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SuperPath

Contained pathways About

Resolution of Abasic Sites (AP sites)

	Resolution of Abasic Sites (AP sites)	0.89			Resolution of AP sites via the single-nucleotide replacement pathway	0.00
	Base excision repair	0.53			Base Excision Repair	0.00

Cell Cycle / Checkpoint Control

Cell Cycle / Checkpoint Control

0.32

DNA Damage

0.32

DNA Repair

DNA Repair

0.45

Chks in Checkpoint Regulation

DNA Repair Mechanisms

0.32

FOXM1 transcription factor network

FOXM1 transcription factor network

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Pathways by source See SuperPaths
Show all pathways

1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for XRCC1

DNA Repair Mechanisms

2 Cell Signaling Technology (CST) Pathways for XRCC1

	Cell Cycle / Checkpoint Control
	DNA Damage

2 BioSystems Pathways for XRCC1

	E2F transcription factor network
	FOXM1 transcription factor network

1 Reactome Pathway for XRCC1

Resolution of AP sites via the single-nucleotide replacement pathway

1 Kegg Pathway (Kegg details for XRCC1):

Base excision repair

Pathway & Disease-focused RT² Profiler PCR Arrays including XRCC1:

Oncogenes & Tumor Suppressor Genes in human mouse rat

DNA Damage Signaling Pathway in human mouse rat

DNA Repair in human mouse rat

Molecular Toxicology PathwayFinder 384HT in human mouse rat

Interactions:

GeneGlobe Interaction Network for XRCC1

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

Selected Interacting proteins for XRCC1 (P18887^{1, 2, 3} ENSP00000262887⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 62)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
APTX	Q7Z2E3¹^,²^,³, ENSP00000400806⁴	EBI-947466,EBI-847814 MINT-2864208 MINT-51181 MINT-51153 MINT-51140 MINT-51142 MINT-51182 MINT-51154 MINT-51139 MINT-2864189 MINT-51230 I2D: score=5 STRING: ENSP00000400806
CHEK2	O96017¹^,²^,³, ENSP00000372023⁴	EBI-947466,EBI-1180783 MINT-7295039 MINT-7294980 MINT-7294997 MINT-7294787 MINT-7295015 MINT-7295027 MINT-7294756 MINT-7294958 I2D: score=1 STRING: ENSP00000372023
POLI	Q9UNA4¹^,²^,³, ENSP00000217800⁴	EBI-947466,EBI-741774 MINT-7296097 MINT-7296110 I2D: score=1 STRING: ENSP00000217800
CCNO	P22674²^,³, ENSP00000282572⁴	MINT-7294905 MINT-7294888 I2D: score=1 STRING: ENSP00000282572
H2AFX	P16104²^,³, ENSP00000364310⁴	MINT-7543857 I2D: score=1 STRING: ENSP00000364310

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Gene Ontology (GO): Selected biological process terms (see all 8): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000012	single strand break repair	IEA	--
GO:0001666	response to hypoxia	IEA	--
GO:0006281	DNA repair	TAS	--
GO:0006284	base-excision repair	TAS	--
GO:0006974	cellular response to DNA damage stimulus	--	--

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(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse compounds at ApexBio

Browse Tocris compounds for XRCC1

Selected Novoseek inferred chemical compound relationships for XRCC1 gene (see all 48) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
polynucleotide	65.7	12	11163244 (3), 19910369 (2), 17650498 (1), 17353262 (1) (see all 8)
8-oxoguanine	63.6	8	18349297 (1), 12933815 (1), 15927541 (1), 18393249 (1) (see all 7)
lead chromate	59.8	8	16714390 (3), 16597656 (3)
vinylchloride	57.1	21	12739102 (4), 12010862 (3), 16881598 (2), 17555083 (2) (see all 7)
methylmethanesulfonate	51.9	10	15867196 (2), 17603793 (1), 15781218 (1), 11909950 (1) (see all 6)
mspi	51.1	5	18364571 (1), 19176223 (1), 17418242 (1), 14639127 (1)
methoxyamine	47.3	1	11585361 (1)
oxaliplatin	44.2	6	17273745 (2), 15213713 (1), 17009149 (1), 11712813 (1)
adpribose	41.4	9	14500814 (5), 16963444 (2), 11016934 (1), 12198176 (1)
gsts	36.4	1	11708327 (1)

7 PharmGKB related drug/compound annotations for XRCC1 gene About this table

Drug/compound	PharmGKB Annotation
Platinum compounds	CA
carboplatin	CA
cisplatin	CA
cyclophosphamide	CA
fluorouracil	CA
oxaliplatin	CA
platinum	CA

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(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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REFSEQ mRNAs for XRCC1 gene:

NM_006297.2

Unigene Cluster for XRCC1:

X-ray repair complementing defective repair in Chinese hamster cells 1

Hs.98493 [show with all ESTs]

Unigene Representative Sequence: NM_006297

9 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000262887(uc002owt.2 uc010xwp.1) ENST00000543982 ENST00000597811

ENST00000595789 ENST00000598422 ENST00000598165 ENST00000599693 ENST00000594107

ENST00000594511

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		GenScript: all cDNA clones in your preferred vector: XRCC1 (NM_006297)
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		QuantiFast Probe-based Assays in human, mouse, rat XRCC1

Flow Cytometry
Products:

eBioscience FlowRNA Probe Sets ( VA1-12071) for XRCC1

Additional mRNA sequence:

AB208781.1 AK293542.1 AK300163.1 AK315332.1 BC023593.2 CR456728.1

13 DOTS entries:

DT.452311 DT.91761768 DT.100773970 DT.100027795 DT.100782706 DT.100782718 DT.100782719 DT.87016286

DT.100637811 DT.95107355 DT.121484346 DT.87016288 DT.91724728

Selected AceView cDNA sequences (see all 374):

CR591751 F13079 F06425 AA722476 BQ057273 AI125175 BM831688 AW002217

AI168181 AW613956 BQ882089 BX091022 AA426207 BQ896139 F08201 BE252183

BM831569 CR614880 BM928576 CR617745 AI206971 F05480 AA402560 BX452522

GeneLoc Exon Structure

Selected Alternative Splicing Database (ASD) splice patterns (SP) for XRCC1 (see all 8) About this scheme

ExUns:	1a	·	1b	·	1c	·	1d	^	2a	·	2b	^	3a	·	3b	^	4	^	5a	·	5b	^	6	^	7	^	8a	·	8b	·	8c	^	9a	·	9b	^	10	^	11	^	12	^	13	^	14	^	15	^	16	^	17
SP1:											-								-
SP2:											-								-
SP3:
SP4:											-								-
SP5:																			-						-		-		-

ECgene alternative splicing isoforms for XRCC1

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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XRCC1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: GCAGGGCCAG

About this image

XRCC1 expression in embryonic tissues and stem cells About this table

Data from LifeMap, the Embryonic Development and Stem Cells Database
selected tissues (see all 7) fully expand


Brain (Nervous System) fully expand to see all 4 entries
Cerebral Cortex

Ovary (Reproductive System) fully expand to see all 2 entries
Ovarian Mesenchymal Stroma Cells Ovary Interstitium
Oviduct

Trophoblast (Extraembryonic Tissues)
Trophoblast Cells Trophoblast

Pancreas (Endocrine System)
Islets of Langerhans

Testis (Reproductive System)
Leydig Cells Testis Interstitium

XRCC1 Protein expression data from MOPED¹, PaxDb² and MaxQB³:

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XRCC1 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.98493

Pathway & Disease-focused RT² Profiler PCR Arrays including XRCC1:

Oncogenes & Tumor Suppressor Genes in human mouse rat

DNA Damage Signaling Pathway in human mouse rat

DNA Repair in human mouse rat

Molecular Toxicology PathwayFinder 384HT in human mouse rat

Primer Products:		OriGene qPCR primer pairs and template standards for XRCC1 OriGene qSTAR qPCR primer pairs in human, mouse for XRCC1
		Pre-validated RT² qPCR Primer Assay in human, mouse, rat XRCC1
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		QuantiFast Probe-based Assays in human, mouse, rat XRCC1

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for XRCC1

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of animals.

Orthologs for XRCC1 gene from Selected species (see all 12) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Xrcc1^{1 , 5}	X-ray repair complementing defective repair in Chinese more^{1, 5}	84.79(n)¹ 86.49(a)¹		7 (11.42 cM)⁵ 22594¹ NM_009532.4¹ NP_033558.3¹ 24547150⁵
lizard (Anolis carolinensis)	Reptilia	--	Uncharacterized protein	54(a)	1 → many	LGf(1127269-1140959)
African clawed frog (Xenopus laevis)	Amphibia	xrcc1-prov²	x-ray repair cross-complementing group 1 protein	76.58(n)		BC045032.1
zebrafish (Danio rerio)	Actinopterygii	xrcc1¹	X-ray repair complementing defective repair in Chinese more	57.71(n) 54.26(a)		445480 NM_001003988.1 NP_001003988.1
fruit fly (Drosophila melanogaster)	Insecta	XRCC1³	nucleotide-excision repair	40(a)		4F5 --

ENSEMBL Gene Tree for XRCC1 (if available)
TreeFam Gene Tree for XRCC1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for XRCC1 gene

LOC100133315² ENSG00000268361²

Find genes that share paralogs with XRCC1 About GenesLikeMe

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Polymorphic Variants from UniProtKB/Swiss-Prot

XRCC1_HUMAN, P18887: Carriers of the polymorphic Gln-399 allele may be at greater risk for tobacco- and age-related DNA

damage

SNP ID	Valid	Clinical significance	Chr 19 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
VAR_036277⁴		A colorectal cancer sample⁴	--	see VAR_036277	2	R W	mis⁴		0	--	--	--	--
rs45592142^1,2	C	--	40478190(+)	`TGTGT-/GTGTGT GTGTGTGTATAGC`	1	--	cds¹		0	--	--	--	--
rs12609770^1,2	C,H	--	44047004(+)	`CAATCA/GCCTCA`	1	--	ds500¹		2		NA	4
rs184793460^1,2		--	44047027(+)	`ATGTGG/TTGGAG`	1	--	ds500¹		0	--	--	--	--
rs189526358^1,2		--	44047218(+)	`AGCCTA/CATGGG`	1	--	ds500¹		0	--	--	--	--
rs141578656^1,2		--	44047231(+)	`CCAGG-/CCCTCC`	1	--	ds500¹		0	--	--	--	--
rs3213401^1,2	C,F	--	44047312(-)	`GAACTGGGA ATC/-TGACC`	1	--	ds500¹		1		NS	178
rs142571717^1,2	C	--	44047314(+)	`TCAGA-/TT CCCAGTTCCC`	1	--	ds500¹		0	--	--	--	--
rs2682558^1,2	C,F	--	44047316(-)	`ACTGGG/AAATCT`	1	--	ds500¹		4		NS WA NA	178
rs147305387^1,2		--	44047364(+)	`CAGAAA/GAGACA`	1	--	ds500¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for XRCC1 (44047192 - 44084625 bp)

Structural Variations
Database of Genomic Variants (DGV) 1 variation for XRCC1: About this table

Variant ID	Type	Subtype	PubMed ID
nsv912107	CNV	Loss	21882294

Human Gene Mutation Database (HGMD): XRCC1

Site Specific Mutation Identification with PCR Assays

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 194360 OMIM disorders: --

13 diseases for XRCC1:
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cardia cancer gastric cardia carcinoma mutagen sensitivity oral leukoplakia

colorectal cancer bladder cancer susceptibility breast cancer xeroderma pigmentosum, group d

lung cancer acute lymphoblastic leukemia squamous cell carcinoma of the head and neck microtia

prostate cancer

6 inferred disease relationships from the University of Copenhagen DISEASES database for XRCC1:

Xeroderma pigmentosum Lung cancer Breast cancer Carcinoma

Urinary bladder cancer Colorectal cancer

Find genes that share disorders with XRCC1 About GenesLikeMe

Selected Novoseek inferred disease relationships for XRCC1 gene (see all 45) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
xeroderma pigmentosum	73.7	28	11016934 (1), 17593927 (1), 19109787 (1), 19657998 (1) (see all 26)
cancer	60.3	79	16172217 (6), 15896924 (4), 16550161 (4), 16137195 (3) (see all 48)
cancer lung	58.1	77	18999926 (4), 17417947 (4), 19481337 (4), 12618330 (3) (see all 34)
nsclc	50.5	31	19958624 (3), 19683826 (2), 15534883 (2), 16157195 (2) (see all 13)
bladder cancer	46.2	30	18272472 (5), 18336890 (3), 20514470 (2), 12223443 (2) (see all 15)
neck cancer	44.8	7	19846968 (2), 11867203 (1), 18833034 (1), 19643719 (1)
carcinoma squamous cell	44.7	19	17614107 (2), 19444915 (2), 19230024 (2), 1574572 (1) (see all 15)
breast cancer	44.6	106	16457697 (6), 15666192 (5), 18481169 (5), 15734955 (4) (see all 42)
genetic susceptibility	43.6	5	15666192 (1), 15252855 (1), 17385092 (1), 19673050 (1) (see all 5)
colorectal cancer	43.3	30	18806752 (4), 15800946 (3), 20033188 (3), 17009149 (3) (see all 13)

Genetic Association Database (GAD): XRCC1
Human Genome Epidemiology (HuGE) Navigator: XRCC1 (589 documents)

Export disorders for XRCC1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for XRCC1 gene, integrated from 10 sources (see all 1000):
(articles sorted by number of sources associating them with XRCC1)

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The XRCC1 Arg399Gln polymorphism, sunburn, and non-melanoma skin cancer: evidence of gene-environment interaction. (PubMed id 11782372)^{1, 2, 4, 9} Nelson H.H.... Karagas M.R. (Cancer Res. 2002)
Molecular cloning of the human XRCC1 gene, which corrects defective DNA strand break repair and sister chromatid exchange. (PubMed id 2247054)^{1, 2, 3} Thompson L.H.... Carrano A.V. (Mol. Cell. Biol. 1990)
Increased risk of oral leukoplakia and cancer among mixed tobacco users carrying XRCC1 variant haplotypes and cancer among smokers carrying two risk genotypes: one on each of two loci, GSTM3 and XRCC1 (Codon 280). (PubMed id 16172217)^{1, 4, 9} Majumder M....Roy B. (amp 2005)
A population-based study of the Arg399Gln polymorphism in X-ray repair cross- complementing group 1 (XRCC1) and risk of pancreatic adenocarcinoma. (PubMed id 12183419)^{1, 4, 9} Duell E.J....Kelsey K.T. (Cancer Res. 2002)
Smoking modifies the relationship between XRCC1 haplotypes and HPV16-negative head and neck squamous cell carcinoma. (PubMed id 19230024)^{1, 4, 9} Applebaum K.M....Kelsey K.T. (Int. J. Cancer 2009)
XRCC1 and XRCC3 polymorphisms and their role as effect modifiers of unsaturated fatty acids and antioxidant intake on colorectal adenomas risk. (PubMed id 15767338)^{1, 4, 9} Stern M.C....Haile R.W. (amp 2005)
The association of XRCC1 gene single nucleotide polymorphisms with response to neoadjuvant chemotherapy in locally advanced cervical carcinoma. (PubMed id 19563645)^{1, 4, 9} Cheng X.D....Xie X. (amp 2009)
DNA repair gene hOGG1 codon 326 and XRCC1 codon 399 polymorphisms and bladder cancer risk in a Japanese population. (PubMed id 18272472)^{1, 4, 9} Arizono K....Kuroda Y. (Jpn. J. Clin. Oncol. 2008)
XRCC1 is phosphorylated by DNA-dependent protein kinase in response to DNA damage. (PubMed id 16397295)^{1, 2, 9} Levy N....Menissier-de Murcia J. (Nucleic Acids Res. 2006)
XRCC1 genotype and breast cancer: functional studies and epidemiologic data show interactions between XRCC1 codon 280 His and smoking. (PubMed id 16510609)^{1, 4, 9} Pachkowski B.F....Nakamura J. (Cancer Res. 2006)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 7515	HGNC: 12828	AceView: XRCC1	Ensembl:ENSG00000073050	euGenes: HUgn7515
ECgene: XRCC1	Kegg: 7515	H-InvDB: XRCC1

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for XRCC1	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for XRCC1	Genetics and Cytogenetics in Oncology and Haematology
NIEHS-SNPs	http://egp.gs.washington.edu/data/xrcc1/

Intellectual Property for XRCC1 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for XRCC1 gene:
Search GeneIP for patents involving XRCC1

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

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