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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

XRCC1 Gene

protein-coding GIFtS: 66
GCID: GC19M044047

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

(Previous symbol: RCC)

Microbiology & Infectious Diseases Congress

See 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)
About This Section

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 bladder cancer susceptibility, and cardia cancer, and among its related super-pathways are Removal of DNA patch containing abasic residue and Cell Cycle / Checkpoint Control. GO annotations related to this gene include damaged DNA binding and protein 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000019.9 NC_018930.2 NT_011109.16

Regulatory elements:

SABiosciences 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 SABiosciences Chromatin IP Primers for XRCC1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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

Subcellular location: Nucleus. Note=Accumulates at sites of DNA damage

6/8 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:

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

APLF

UniProtKB: Sumoylated

View modification sites using PhosphoSitePlus

View neXtProt modification sites for NX_P18887

XRCC1 Protein expression data from MOPED¹, PaxDb² and MAXQB³ : About this image

REFSEQ proteins: NP_006288.2

ENSEMBL proteins:

ENSP00000262887 ENSP00000443671 ENSP00000470391 ENSP00000470045 ENSP00000472128

ENSP00000471159

Reactome Protein details: P18887
Human Recombinant Protein Products for XRCC1:

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	Browse Sino Biological Recombinant Proteins Browse Sino Biological Cell Lysates
	Browse ProSpec Recombinant Proteins
	Cloud-Clone Corp. Proteins for XRCC1

Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table

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

XRCC1 for ontologies About GeneDecksing

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Assay Products for XRCC1:

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	Cloud-Clone Corp. ELISAs for XRCC1 Cloud-Clone Corp. CLIAs for XRCC1

(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

3 InterPro protein domains:

IPR002706 Xrcc1_N

IPR001357 BRCT_dom

IPR008979 Galactose-bd-like

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

XRCC1 for domains About GeneDecksing

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

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 (GO ID links to tree view): About this table

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

XRCC1 for ontologies About GeneDecksing

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	homeostasis/metabolism
mortality/aging	nervous system	normal	tumorigenesis

XRCC1 for phenotypes About GeneDecksing

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

inGenious Targeting Laboratory - Custom generated mouse model solutions for XRCC1

inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for XRCC1

genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for XRCC1

genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for XRCC1

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Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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Gene Editing Products:			DNA2.0 Custom Protein Engineering Service for XRCC1
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Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
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Cell Line Products:		GenScript Custom overexpressing Cell Line Services for XRCC1
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for XRCC1

(Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
About This Section

SuperPaths for XRCC1 About (see all 8)

See pathways by source

SuperPath

Contained pathways About

Resolution of Abasic Sites (AP sites)

	Resolution of Abasic Sites (AP sites)	0.89			Base excision repair	0.53
	Base Excision Repair	0.89

DNA Damage

DNA Damage

0.32

Cell Cycle / Checkpoint Control

0.32

Base-Excision Repair, AP Site Formation

Resolution of AP sites via the single-nucleotide replacement pathway

0.83

Nucleotide Excision Repair

DNA Repair

0.46

Chks in Checkpoint Regulation

DNA Repair Mechanisms

0.32

Pathways by source See SuperPaths
Show all pathways

1 EMD Millipore Pathway for XRCC1

Meiosis

1 Downloadable PowerPoint Slide of QIAGEN 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

4 Reactome Pathways for XRCC1

	DNA Repair
	Base Excision Repair
	Resolution of Abasic Sites (AP sites)
	Resolution of AP sites via the single-nucleotide replacement pathway

1 Kegg Pathway (Kegg details for XRCC1):

Base excision repair

XRCC1 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for XRCC1

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

5/58 Interacting proteins for XRCC1 (P18887^{1, 2, 3} ENSP00000262887⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 58)

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	O96017²^,³, ENSP00000372023⁴	MINT-7295039 MINT-7294980 MINT-7294997 MINT-7294787 MINT-7295015 MINT-7295027 MINT-7294958 MINT-7294756 I2D: score=1 STRING: ENSP00000372023
CCNO	P22674²^,³, ENSP00000282572⁴	MINT-7294905 MINT-7294888 I2D: score=1 STRING: ENSP00000282572
POLI	Q9UNA4²^,³, ENSP00000217800⁴	MINT-7296097 MINT-7296110 I2D: score=1 STRING: ENSP00000217800
H2AFX	P16104²^,³, ENSP00000364310⁴	MINT-7543857 I2D: score=1 STRING: ENSP00000364310

About this table

Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (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	response to DNA damage stimulus	--	--

XRCC1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

XRCC1 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for XRCC1

10/48 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

Search CenterWatch for drugs/clinical trials and news about XRCC1

(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,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

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

Congresses - knowledge worth sharing:
European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

miRNA Products:		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat XRCC1
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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

24/374 AceView cDNA sequences (see all 374):

BQ896139 AA722476 AK096168 BM831688 CA395701 BQ056064 BM711287 AI983314

CR591751 AL520680 BX452522 BM698936 BQ682697 AI206971 CR614880 AA402560

BX091022 BQ882089 BM831569 AW002217 AK128554 CR610347 AF322648 AI424752

GeneLoc Exon Structure

5/8 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

XRCC1 expression in normal human tissues (normalized intensities) XRCC1 embryonic expression: see
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

5/33 selected tissues (see all 33) fully expand


Epithelium
vagina ; squamous epithelial cells

Uterus
uterus, post-menopause ; glandular cells

Testis (Reproductive System) fully expand to see all 4 entries
Leydig Cells Testis Interstitium
seminal vesicle ; glandular cells

Colon (Gastrointestinal Tract) fully expand to see all 4 entries
colon ; peripheral nerve/ganglion

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

See XRCC1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for XRCC1

SOURCE GeneReport for Unigene cluster: Hs.98493

SABiosciences Expression via Pathway-Focused 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

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		QIAGEN 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)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for XRCC1 gene from 5/12 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	--	--	53(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	58.35(n) 55.28(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)
About This Section

Paralogs for XRCC1 gene

LOC100133315² ENSG00000268361²

XRCC1 for paralogs About GeneDecksing

(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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
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UniProtKB/Swiss-Prot: XRCC1_HUMAN, P18887

Polymorphism: 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	--	--	--	--
VAR_061727⁴		--	--	see VAR_061727	2	N Y	mis⁴		0	--	--	--	--
VAR_014773⁴		--	--	see VAR_014773	2	R L	mis⁴		0	--	--	--	--
VAR_014774⁴		--	--	see VAR_014774	2	V M	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

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

SABiosciences Cancer Mutation PCR Assays

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

20/129 diseases for XRCC1 (see all 129): About MalaCards

bladder cancer susceptibility cardia cancer oral leukoplakia gastric cardia carcinoma

xeroderma pigmentosum, group d esophageal adenocarcinoma mutagen sensitivity triple-a syndrome

barrett's adenocarcinoma skin cancer microtia alcoholic liver cirrhosis

squamous cell carcinoma of the head and neck leukoplakia acoustic neuroma xeroderma pigmentosum

cervical intraepithelial neoplasia apraxia neuroma pterygium

6 diseases from the University of Copenhagen DISEASES database for XRCC1:

Xeroderma pigmentosum Lung cancer Breast cancer Carcinoma

Urinary bladder cancer Colorectal cancer

XRCC1 for disorders About GeneDecksing

Congresses - knowledge worth sharing:
Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

10/45 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 9 sources (see all 954):
(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. (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. (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. (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. (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. (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. (2005)
The association of XRCC1 gene single nucleotide polym orphisms with response to neoadjuvant chemotherapy in locally advanced cervical carcinoma. (PubMed id 19563645)^{1, 4, 9} Cheng X.D....Xie X. (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. (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. (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. (2006)

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

Query String		PubMed OMIM NCBI Bookshelf
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(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, and/or UniProtKB/TrEMBL,
Wikipedia and/or 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
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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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