XRCC1
DNA repair protein XRCC1
Also known as: RCC, XRCC1_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P18887
- Gene
- XRCC1
- Ensembl
- ENSG00000073050
- Chromosome
- 19
- Canonical length
- 633 aa
- Protein class
- Cancer-related genes, Disease related genes, Human disease related genes, Predicted intracellular proteins
- Subcellular location
- Nucleoplasm
- Quaternary structure
- Homodimer
OverviewNCBI 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]
Canonical amino-acid sequenceUniProt
633 residues, UniProt reviewed canonical sequence.
>P18887|XRCC1
1 MPEIRLRHVV SCSSQDSTHC AENLLKADTY RKWRAAKAGE KTISVVLQLE KEEQIHSVDI
61 GNDGSAFVEV LVGSSAGGAG EQDYEVLLVT SSFMSPSESR SGSNPNRVRM FGPDKLVRAA
121 AEKRWDRVKI VCSQPYSKDS PFGLSFVRFH SPPDKDEAEA PSQKVTVTKL GQFRVKEEDE
181 SANSLRPGAL FFSRINKTSP VTASDPAGPS YAAATLQASS AASSASPVSR AIGSTSKPQE
241 SPKGKRKLDL NQEEKKTPSK PPAQLSPSVP KRPKLPAPTR TPATAPVPAR AQGAVTGKPR
301 GEGTEPRRPR AGPEELGKIL QGVVVVLSGF QNPFRSELRD KALELGAKYR PDWTRDSTHL
361 ICAFANTPKY SQVLGLGGRI VRKEWVLDCH RMRRRLPSQR YLMAGPGSSS EEDEASHSGG
421 SGDEAPKLPQ KQPQTKTKPT QAAGPSSPQK PPTPEETKAA SPVLQEDIDI EGVQSEGQDN
481 GAEDSGDTED ELRRVAEQKE HRLPPGQEEN GEDPYAGSTD ENTDSEEHQE PPDLPVPELP
541 DFFQGKHFFL YGEFPGDERR KLIRYVTAFN GELEDYMSDR VQFVITAQEW DPSFEEALMD
601 NPSLAFVRPR WIYSCNEKQK LLPHQLYGVV PQALocalizationUniProt · AlphaFold · HPA
Whether an antibody against XRCC1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.48
- Highest tissue expression
- 34 nTPM
Expression across tissuesHPA
Tissue
- ovary: 34 nTPM
- pituitary gland: 33 nTPM
- thymus: 27 nTPM
- cervix: 25 nTPM
- testis: 25 nTPM
- blood vessel: 24 nTPM
Single-cell type
- oocytes: 55 nCPM
- megakaryocytes: 50 nCPM
- respiratory ciliated cells: 46 nCPM
- cytotrophoblasts: 37 nCPM
- late primary spermatocytes: 36 nCPM
- migrating cytotrophoblasts: 32 nCPM
Immune cell
- basophil: 19 nTPM
- eosinophil: 16 nTPM
- neutrophil: 15 nTPM
- memory CD8 T-cell: 15 nTPM
- T-reg: 15 nTPM
- memory CD4 T-cell: 14 nTPM
Brain region
- cerebellum: 31 nTPM
- cerebral cortex: 28 nTPM
- thalamus: 28 nTPM
- medulla oblongata: 26 nTPM
- basal ganglia: 26 nTPM
- hypothalamus: 26 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about XRCC1.
Disease | AllUniProt
Conditions XRCC1 is implicated in, by any mechanism.
- Spinocerebellar ataxia, autosomal recessive, 26 (SCAR26) MIM:617633
Disease | GeneticClinVar
4 pathogenic / likely-pathogenic of 152 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Spinocerebellar ataxia, autosomal recessive 26
- Malignant tumor of esophagus
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.74
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.72
- DepMap mean gene effect
- -0.29
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 7% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- base-excision repair
- double-strand break repair
- double-strand break repair via nonhomologous end joining
- hippocampus development
- negative regulation of protection from non-homologous end joining at telomere
- negative regulation of protein ADP-ribosylation
- regulation of base-excision repair
- response to hydroperoxide
- single strand break repair
- telomeric DNA-containing double minutes formation
Molecular functions
- 3' overhang single-stranded DNA endodeoxyribonuclease activity
- ADP-D-ribose modification-dependent protein binding
- enzyme binding
- poly-ADP-D-ribose binding
- oxidized DNA binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of XRCC1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads XRCC1 as an antibody target. Whether an autoantibody or antibody against XRCC1 could matter depends on whether native XRCC1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
XRCC1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label XRCC1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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