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Protein

DNA repair protein XRCC1

Gene

XRCC1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Involved in DNA single-strand break repair by mediating the assembly of DNA break repair protein complexes. Probably during DNA repair, negatively regulates ADP-ribose levels by modulating ADP-ribosyltransferase PARP1 activity.1 Publication

GO - Molecular functioni

  • 3' overhang single-stranded DNA endodeoxyribonuclease activity Source: Ensembl
  • DNA ligase activity Source: Reactome
  • enzyme binding Source: BHF-UCL
  • oxidized DNA binding Source: UniProtKB

GO - Biological processi

Keywordsi

Biological processDNA damage, DNA repair

Enzyme and pathway databases

ReactomeiR-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-5696397 Gap-filling DNA repair synthesis and ligation in GG-NER
R-HSA-6782210 Gap-filling DNA repair synthesis and ligation in TC-NER
SignaLinkiP18887
SIGNORiP18887

Names & Taxonomyi

Protein namesi
Recommended name:
DNA repair protein XRCC1
Alternative name(s):
X-ray repair cross-complementing protein 1
Gene namesi
Name:XRCC1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 19

Organism-specific databases

EuPathDBiHostDB:ENSG00000073050.11
HGNCiHGNC:12828 XRCC1
MIMi194360 gene
neXtProtiNX_P18887

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Spinocerebellar ataxia, autosomal recessive, 26 (SCAR26)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR26 is a progressive disease characterized by gait and limb ataxia, loss of independent ambulation, oculomotor apraxia, and peripheral neuropathy with distal muscle weakness and areflexia.
See also OMIM:617633
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_079140431K → N in SCAR26; may result in aberrant splicing. 1 PublicationCorresponds to variant dbSNP:rs761564262EnsemblClinVar.1
Natural variantiVAR_079141465 – 633Missing in SCAR26. 1 PublicationAdd BLAST169

Keywords - Diseasei

Neurodegeneration

Organism-specific databases

DisGeNETi7515
MalaCardsiXRCC1
MIMi617633 phenotype
PharmGKBiPA369

Polymorphism and mutation databases

BioMutaiXRCC1
DMDMi317373290

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000660441 – 633DNA repair protein XRCC1Add BLAST633

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei140PhosphoserineCombined sources1
Cross-linki176Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1); alternateCombined sources
Cross-linki176Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternateCombined sources
Modified residuei198PhosphothreonineCombined sources1
Modified residuei199PhosphoserineCombined sources1
Modified residuei202PhosphothreonineCombined sources1
Modified residuei204PhosphoserineCombined sources1
Modified residuei226PhosphoserineCombined sources1
Modified residuei241PhosphoserineCombined sources1
Modified residuei257PhosphothreonineCombined sources1
Modified residuei259PhosphoserineCombined sources1
Modified residuei266PhosphoserineCombined sources1
Modified residuei281PhosphothreonineCombined sources1
Modified residuei371Phosphoserine; by PRKDC1 Publication1
Modified residuei408PhosphoserineCombined sources1
Modified residuei409PhosphoserineCombined sources1
Modified residuei410PhosphoserineCombined sources1
Modified residuei421PhosphoserineCombined sources1
Modified residuei446PhosphoserineCombined sources1
Modified residuei447PhosphoserineCombined sources1
Modified residuei453PhosphothreonineCombined sources1
Modified residuei457PhosphothreonineCombined sources1
Modified residuei461PhosphoserineCombined sources1
Modified residuei485PhosphoserineCombined sources1 Publication1
Modified residuei488PhosphothreonineCombined sources1 Publication1
Modified residuei518Phosphoserine1 Publication1
Modified residuei519Phosphothreonine1 Publication1
Modified residuei523Phosphothreonine1 Publication1

Post-translational modificationi

Phosphorylation of Ser-371 causes dimer dissociation. Phosphorylation by CK2 promotes interaction with APTX and APLF.5 Publications
Sumoylated.1 Publication

Keywords - PTMi

Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

EPDiP18887
MaxQBiP18887
PaxDbiP18887
PeptideAtlasiP18887
PRIDEiP18887
ProteomicsDBi53619

PTM databases

iPTMnetiP18887
PhosphoSitePlusiP18887

Expressioni

Tissue specificityi

Expressed in fibroblasts, retinal pigmented epithelial cells and lymphoblastoid cells (at protein level).1 Publication

Gene expression databases

BgeeiENSG00000073050 Expressed in 221 organ(s), highest expression level in right ovary
CleanExiHS_XRCC1
ExpressionAtlasiP18887 baseline and differential
GenevisibleiP18887 HS

Organism-specific databases

HPAiCAB005427
HPA006717

Interactioni

Subunit structurei

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 APEX1.9 Publications

Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

BioGridi113349, 79 interactors
CORUMiP18887
DIPiDIP-39067N
IntActiP18887, 49 interactors
MINTiP18887
STRINGi9606.ENSP00000262887

Structurei

Secondary structure

1633
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliP18887
SMRiP18887
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP18887

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini315 – 403BRCT 1PROSITE-ProRule annotationAdd BLAST89
Domaini538 – 629BRCT 2PROSITE-ProRule annotationAdd BLAST92

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiKOG3226 Eukaryota
ENOG410ZE1H LUCA
HOVERGENiHBG052992
InParanoidiP18887
KOiK10803
OrthoDBiEOG091G0KP0
PhylomeDBiP18887
TreeFamiTF101201

Family and domain databases

CDDicd00027 BRCT, 2 hits
Gene3Di2.60.120.260, 1 hit
3.40.50.10190, 2 hits
InterProiView protein in InterPro
IPR001357 BRCT_dom
IPR036420 BRCT_dom_sf
IPR008979 Galactose-bd-like_sf
IPR002706 Xrcc1_N
PfamiView protein in Pfam
PF00533 BRCT, 1 hit
PF16589 BRCT_2, 1 hit
PF01834 XRCC1_N, 1 hit
SMARTiView protein in SMART
SM00292 BRCT, 2 hits
SUPFAMiSSF49785 SSF49785, 1 hit
SSF52113 SSF52113, 2 hits
PROSITEiView protein in PROSITE
PS50172 BRCT, 2 hits

Sequence (1+)i

Sequence statusi: Complete.

This entry has 1 described isoform and 5 potential isoforms that are computationally mapped.Show allAlign All

P18887-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MPEIRLRHVV SCSSQDSTHC AENLLKADTY RKWRAAKAGE KTISVVLQLE
60 70 80 90 100
KEEQIHSVDI GNDGSAFVEV LVGSSAGGAG EQDYEVLLVT SSFMSPSESR
110 120 130 140 150
SGSNPNRVRM FGPDKLVRAA AEKRWDRVKI VCSQPYSKDS PFGLSFVRFH
160 170 180 190 200
SPPDKDEAEA PSQKVTVTKL GQFRVKEEDE SANSLRPGAL FFSRINKTSP
210 220 230 240 250
VTASDPAGPS YAAATLQASS AASSASPVSR AIGSTSKPQE SPKGKRKLDL
260 270 280 290 300
NQEEKKTPSK PPAQLSPSVP KRPKLPAPTR TPATAPVPAR AQGAVTGKPR
310 320 330 340 350
GEGTEPRRPR AGPEELGKIL QGVVVVLSGF QNPFRSELRD KALELGAKYR
360 370 380 390 400
PDWTRDSTHL ICAFANTPKY SQVLGLGGRI VRKEWVLDCH RMRRRLPSRR
410 420 430 440 450
YLMAGPGSSS EEDEASHSGG SGDEAPKLPQ KQPQTKTKPT QAAGPSSPQK
460 470 480 490 500
PPTPEETKAA SPVLQEDIDI EGVQSEGQDN GAEDSGDTED ELRRVAEQKE
510 520 530 540 550
HRLPPGQEEN GEDPYAGSTD ENTDSEEHQE PPDLPVPELP DFFQGKHFFL
560 570 580 590 600
YGEFPGDERR KLIRYVTAFN GELEDNMSDR VQFVITAQEW DPSFEEALMD
610 620 630
NPSLAFVRPR WIYSCNEKQK LLPHQLYGVV PQA
Length:633
Mass (Da):69,477
Last modified:January 11, 2011 - v2
Checksum:i30DB3321234DBFC2
GO

Computationally mapped potential isoform sequencesi

There are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F5H8D7F5H8D7_HUMAN
DNA repair protein XRCC1
XRCC1
602Annotation score:
M0QYS5M0QYS5_HUMAN
DNA repair protein XRCC1
XRCC1
292Annotation score:
M0R1U8M0R1U8_HUMAN
DNA repair protein XRCC1
XRCC1
210Annotation score:
M0QZ96M0QZ96_HUMAN
DNA repair protein XRCC1
XRCC1
165Annotation score:
M0R0D2M0R0D2_HUMAN
DNA repair protein XRCC1
XRCC1
172Annotation score:

Polymorphismi

Carriers of the polymorphic Gln-399 allele may be at greater risk for tobacco- and age-related DNA damage.

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0147737R → L. Corresponds to variant dbSNP:rs2307186Ensembl.1
Natural variantiVAR_01477410V → M. Corresponds to variant dbSNP:rs2307171Ensembl.1
Natural variantiVAR_01616872V → A1 PublicationCorresponds to variant dbSNP:rs25496Ensembl.1
Natural variantiVAR_029228107R → H. Corresponds to variant dbSNP:rs2228487Ensembl.1
Natural variantiVAR_014775157E → K. Corresponds to variant dbSNP:rs2307180Ensembl.1
Natural variantiVAR_014776161P → L1 PublicationCorresponds to variant dbSNP:rs2307191Ensembl.1
Natural variantiVAR_013400194R → W2 PublicationsCorresponds to variant dbSNP:rs1799782EnsemblClinVar.1
Natural variantiVAR_013401280R → H2 PublicationsCorresponds to variant dbSNP:rs25489Ensembl.1
Natural variantiVAR_014777298K → N. Corresponds to variant dbSNP:rs2307188Ensembl.1
Natural variantiVAR_018775304T → A1 PublicationCorresponds to variant dbSNP:rs25490Ensembl.1
Natural variantiVAR_014778309P → S1 PublicationCorresponds to variant dbSNP:rs25491Ensembl.1
Natural variantiVAR_036277350R → W in a colorectal cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_011487399R → Q7 PublicationsCorresponds to variant dbSNP:rs25487Ensembl.1
Natural variantiVAR_079140431K → N in SCAR26; may result in aberrant splicing. 1 PublicationCorresponds to variant dbSNP:rs761564262EnsemblClinVar.1
Natural variantiVAR_079141465 – 633Missing in SCAR26. 1 PublicationAdd BLAST169
Natural variantiVAR_014779485S → Y. Corresponds to variant dbSNP:rs2307184Ensembl.1
Natural variantiVAR_016169514P → L. Corresponds to variant dbSNP:rs25474Ensembl.1
Natural variantiVAR_014780559R → Q. Corresponds to variant dbSNP:rs2307167Ensembl.1
Natural variantiVAR_014781560R → W. Corresponds to variant dbSNP:rs2307166Ensembl.1
Natural variantiVAR_014782576N → S1 PublicationCorresponds to variant dbSNP:rs2307177Ensembl.1
Natural variantiVAR_061727576N → YCombined sources3 PublicationsCorresponds to variant dbSNP:rs2682557Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M36089 mRNA Translation: AAA63270.1
AF512504 Genomic DNA Translation: AAM34791.1
CR456728 mRNA Translation: CAG33009.1
AC018758 Genomic DNA Translation: AAG09061.1
L34079 Genomic DNA No translation available.
BC023593 mRNA Translation: AAH23593.1
CCDSiCCDS12624.1
PIRiA36353
RefSeqiNP_006288.2, NM_006297.2
UniGeneiHs.98493

Genome annotation databases

EnsembliENST00000262887; ENSP00000262887; ENSG00000073050
GeneIDi7515
KEGGihsa:7515
UCSCiuc002owt.3 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Cross-referencesi

Web resourcesi

NIEHS-SNPs

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M36089 mRNA Translation: AAA63270.1
AF512504 Genomic DNA Translation: AAM34791.1
CR456728 mRNA Translation: CAG33009.1
AC018758 Genomic DNA Translation: AAG09061.1
L34079 Genomic DNA No translation available.
BC023593 mRNA Translation: AAH23593.1
CCDSiCCDS12624.1
PIRiA36353
RefSeqiNP_006288.2, NM_006297.2
UniGeneiHs.98493

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1CDZX-ray3.20A538-633[»]
1XNANMR-A1-183[»]
1XNTNMR-A1-183[»]
2D8MNMR-A305-420[»]
2W3OX-ray1.85C/D515-522[»]
3K75X-ray2.95B/C1-183[»]
3K77X-ray2.60A/B/C/D/E/F/G/H1-155[»]
3LQCX-ray2.35A1-183[»]
5E6QX-ray2.31A241-276[»]
5W7XX-ray2.00E/F/G/H514-522[»]
5W7YX-ray2.10C/D514-521[»]
ProteinModelPortaliP18887
SMRiP18887
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi113349, 79 interactors
CORUMiP18887
DIPiDIP-39067N
IntActiP18887, 49 interactors
MINTiP18887
STRINGi9606.ENSP00000262887

PTM databases

iPTMnetiP18887
PhosphoSitePlusiP18887

Polymorphism and mutation databases

BioMutaiXRCC1
DMDMi317373290

Proteomic databases

EPDiP18887
MaxQBiP18887
PaxDbiP18887
PeptideAtlasiP18887
PRIDEiP18887
ProteomicsDBi53619

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000262887; ENSP00000262887; ENSG00000073050
GeneIDi7515
KEGGihsa:7515
UCSCiuc002owt.3 human

Organism-specific databases

CTDi7515
DisGeNETi7515
EuPathDBiHostDB:ENSG00000073050.11
GeneCardsiXRCC1
H-InvDBiHIX0040090
HGNCiHGNC:12828 XRCC1
HPAiCAB005427
HPA006717
MalaCardsiXRCC1
MIMi194360 gene
617633 phenotype
neXtProtiNX_P18887
PharmGKBiPA369
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3226 Eukaryota
ENOG410ZE1H LUCA
HOVERGENiHBG052992
InParanoidiP18887
KOiK10803
OrthoDBiEOG091G0KP0
PhylomeDBiP18887
TreeFamiTF101201

Enzyme and pathway databases

ReactomeiR-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-5696397 Gap-filling DNA repair synthesis and ligation in GG-NER
R-HSA-6782210 Gap-filling DNA repair synthesis and ligation in TC-NER
SignaLinkiP18887
SIGNORiP18887

Miscellaneous databases

ChiTaRSiXRCC1 human
EvolutionaryTraceiP18887
GeneWikiiXRCC1
GenomeRNAii7515
PROiPR:P18887
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000073050 Expressed in 221 organ(s), highest expression level in right ovary
CleanExiHS_XRCC1
ExpressionAtlasiP18887 baseline and differential
GenevisibleiP18887 HS

Family and domain databases

CDDicd00027 BRCT, 2 hits
Gene3Di2.60.120.260, 1 hit
3.40.50.10190, 2 hits
InterProiView protein in InterPro
IPR001357 BRCT_dom
IPR036420 BRCT_dom_sf
IPR008979 Galactose-bd-like_sf
IPR002706 Xrcc1_N
PfamiView protein in Pfam
PF00533 BRCT, 1 hit
PF16589 BRCT_2, 1 hit
PF01834 XRCC1_N, 1 hit
SMARTiView protein in SMART
SM00292 BRCT, 2 hits
SUPFAMiSSF49785 SSF49785, 1 hit
SSF52113 SSF52113, 2 hits
PROSITEiView protein in PROSITE
PS50172 BRCT, 2 hits
ProtoNetiSearch...

Entry informationi

Entry nameiXRCC1_HUMAN
AccessioniPrimary (citable) accession number: P18887
Secondary accession number(s): Q6IBS4, Q9HCB1
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1990
Last sequence update: January 11, 2011
Last modified: November 7, 2018
This is version 201 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
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Main funding by: National Institutes of Health

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