O43542 (XRCC3_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 114.
History...
Names·Attributes·General annotation·Ontologies·Interactions·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Interactions·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: DNA repair protein XRCC3 Alternative name(s): X-ray repair cross-complementing protein 3 | ||
| Gene names |
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| Organism | Homo sapiens (Human) [Reference proteome] | ||
| Taxonomic identifier | 9606 [NCBI] | ||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo![]() |
Protein attributes
| Sequence length | 346 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | Involved in the homologous recombination repair (HRR) pathway of double-stranded DNA, thought to repair chromosomal fragmentation, translocations and deletions. Plays a role in regulating mitochondrial DNA copy number under conditions of oxidative stress in the presence of RAD51 and RAD51C. Ref.9 |
| Subunit structure | Interacts with RAD51C and RAD51. Part of a complex consisting of RAD51B, RAD51C, RAD51D, XRCC2 and XRCC3. Forms a complex with FANCD2, BRCA2 and phosphorylated FANCG. Interacts with SWSAP1 and ZSWIM7; involved in homologous recombination repair. Ref.5 Ref.6 Ref.11 |
| Subcellular location | Nucleus. Cytoplasm. Cytoplasm › perinuclear region. Mitochondrion. Note: Accumulates in discrete nuclear foci prior to DNA damage, and these foci persist throughout the time course of DNA repair. Ref.7 Ref.9 |
| Induction | Stress-induced increase in the mitochondrial levels is seen. Ref.9 |
| Involvement in disease | Breast cancer (BC) [MIM:114480]: A common malignancy originating from breast epithelial tissue. Breast neoplasms can be distinguished by their histologic pattern. Invasive ductal carcinoma is by far the most common type. Breast cancer is etiologically and genetically heterogeneous. Important genetic factors have been indicated by familial occurrence and bilateral involvement. Mutations at more than one locus can be involved in different families or even in the same case. Cutaneous malignant melanoma 6 (CMM6) [MIM:613972]: A malignant neoplasm of melanocytes, arising de novo or from a pre-existing benign nevus, which occurs most often in the skin but also may involve other sites. |
| Sequence similarities | Belongs to the RecA family. RAD51 subfamily. |
Ontologies
Binary interactions
With | Entry | #Exp. | IntAct | Notes |
|---|---|---|---|---|
| SWSAP1 | Q6NVH7 | 2 | EBI-2849976,EBI-5281637 |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 346 | 346 | DNA repair protein XRCC3 | PRO_0000122951 | |||||
Regions | |||||||||
| Nucleotide binding | 107 – 114 | 8 | ATP Potential | ||||||
Natural variations | |||||||||
| Natural variant | 94 | 1 | R → H. Ref.2 Corresponds to variant rs3212057 [ dbSNP | Ensembl ]. | VAR_020405 | |||||
| Natural variant | 241 | 1 | T → M in CMM6 susceptibility; associated with cutaneous malignant melanoma. Ref.1 Ref.2 Ref.12 Corresponds to variant rs861539 [ dbSNP | Ensembl ]. | VAR_013006 | |||||
| Natural variant | 271 | 1 | G → R. Corresponds to variant rs28903080 [ dbSNP | Ensembl ]. | VAR_029295 | |||||
| Natural variant | 302 | 1 | R → H. Corresponds to variant rs28903081 [ dbSNP | Ensembl ]. | VAR_029296 | |||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "XRCC2 and XRCC3, new human Rad51-family members, promote chromosome stability and protect against DNA cross-links and other damages." Liu N., Lamerdin J.E., Tebbs R.S., Schild D., Tucker J.D., Shen M.R., Brookman K.W., Siciliano M.J., Walter C.A., Fan W., Narayana L.S., Zhou Z.-Q., Adamson A.W., Sorensen K.J., Chen D.J., Jones N.J., Thompson L.H. Mol. Cell 1:783-793(1998) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA], VARIANT MET-241. Tissue: Cervix carcinoma. |
| [2] | NIEHS SNPs program Submitted (APR-2002) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS HIS-94 AND MET-241. |
| [3] | "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Lymph, Muscle and Placenta. |
| [4] | "Variants in DNA double-strand break repair genes and breast cancer susceptibility." Kuschel B., Auranen A., McBride S., Novik K.L., Antoniou A., Lipscombe J.M., Day N.E., Easton D.F., Ponder B.A., Pharoah P.D., Dunning A. Hum. Mol. Genet. 11:1399-1407(2002) [PubMed] [Europe PMC] [Abstract] Cited for: INVOLVEMENT IN BC SUSCEPTIBILITY. |
| [5] | "RAD51C interacts with RAD51B and is central to a larger protein complex in vivo exclusive of RAD51." Miller K.A., Yoshikawa D.M., McConnell I.R., Clark R., Schild D., Albala J.S. J. Biol. Chem. 277:8406-8411(2002) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION IN A COMPLEX WITH RAD51B; RAD51C; RAD51D AND XRCC3. |
| [6] | "Involvement of Rad51C in two distinct protein complexes of Rad51 paralogs in human cells." Liu N., Schild D., Thelen M.P., Thompson L.H. Nucleic Acids Res. 30:1009-1015(2002) [PubMed] [Europe PMC] [Abstract] Cited for: INTERACTION WITH RAD51 AND RAD51C. |
| [7] | "Cellular localization of human Rad51C and regulation of ubiquitin-mediated proteolysis of Rad51." Bennett B.T., Knight K.L. J. Cell. Biochem. 96:1095-1109(2005) [PubMed] [Europe PMC] [Abstract] Cited for: SUBCELLULAR LOCATION. |
| [8] | "ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage." Matsuoka S., Ballif B.A., Smogorzewska A., McDonald E.R. III, Hurov K.E., Luo J., Bakalarski C.E., Zhao Z., Solimini N., Lerenthal Y., Shiloh Y., Gygi S.P., Elledge S.J. Science 316:1160-1166(2007) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. Tissue: Embryonic kidney. |
| [9] | "Discovery of a novel function for human Rad51: maintenance of the mitochondrial genome." Sage J.M., Gildemeister O.S., Knight K.L. J. Biol. Chem. 285:18984-18990(2010) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION, SUBCELLULAR LOCATION, INDUCTION. |
| [10] | "Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. |
| [11] | "hSWS1.SWSAP1 is an evolutionarily conserved complex required for efficient homologous recombination repair." Liu T., Wan L., Wu Y., Chen J., Huang J. J. Biol. Chem. 286:41758-41766(2011) [PubMed] [Europe PMC] [Abstract] Cited for: INTERACTION WITH SWSAP1 AND ZSWIM7. |
| [12] | "A variant within the DNA repair gene XRCC3 is associated with the development of melanoma skin cancer." Winsey S.L., Haldar N.A., Marsh H.P., Bunce M., Marshall S.E., Harris A.L., Wojnarowska F., Welsh K.I. Cancer Res. 60:5612-5616(2000) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT CMM6 SUSCEPTIBILITY MET-241. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AF035586 mRNA. Translation: AAC05368.1. AF037222 Genomic DNA. Translation: AAC04805.1. AF508041 Genomic DNA. Translation: AAM23015.1. BC001036 mRNA. Translation: AAH01036.1. BC002949 mRNA. Translation: AAH02949.1. BC011725 mRNA. Translation: AAH11725.1. |
| IPI | IPI00023073. |
| RefSeq | NP_001093588.1. NM_001100118.1. NP_001093589.1. NM_001100119.1. NP_005423.1. NM_005432.3. |
| UniGene | Hs.592325. Hs.733412. |
3D structure databases | |
| ProteinModelPortal | O43542. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | O43542. 4 interactions. |
| STRING | 9606.ENSP00000343392. |
PTM databases | |
| PhosphoSite | O43542. |
Proteomic databases | |
| PaxDb | O43542. |
| PRIDE | O43542. |
Protocols and materials databases | |
| DNASU | 7517. |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000352127; ENSP00000343392; ENSG00000126215. ENST00000445556; ENSP00000412990; ENSG00000126215. ENST00000553264; ENSP00000451974; ENSG00000126215. ENST00000554913; ENSP00000451362; ENSG00000126215. ENST00000555055; ENSP00000452598; ENSG00000126215. |
| GeneID | 7517. |
| KEGG | hsa:7517. |
| UCSC | uc001ynx.4. human. |
Organism-specific databases | |
| CTD | 7517. |
| GeneCards | GC14M104163. |
| HGNC | HGNC:12830. XRCC3. |
| MIM | 114480. phenotype. 600675. gene. 613972. phenotype. |
| neXtProt | NX_O43542. |
| PharmGKB | PA37422. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | COG0468. |
| HOGENOM | HOG000239162. |
| HOVERGEN | HBG054179. |
| InParanoid | O43542. |
| KO | K10880. |
| OMA | INQVTEA. |
| OrthoDB | EOG47D9GS. |
| PhylomeDB | O43542. |
Gene expression databases | |
| ArrayExpress | O43542. |
| Bgee | O43542. |
| CleanEx | HS_XRCC3. |
| Genevestigator | O43542. |
| GermOnline | ENSG00000126215. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR013632. DNA_recomb/repair_Rad51_C. IPR016467. DNA_recomb/repair_RecA-like. IPR020588. DNA_recomb_RecA/RadB_ATP-bd. [Graphical view] |
| Pfam | PF08423. Rad51. 1 hit. [Graphical view] |
| PIRSF | PIRSF005856. Rad51. 1 hit. |
| PROSITE | PS50162. RECA_2. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| GenomeRNAi | 7517. |
| NextBio | 29415. |
| SOURCE | Search... |
Entry information
| Entry name | XRCC3_HUMAN | ||||||||
| Accession | Primary (citable) accession number: O43542 Secondary accession number(s): O43568, Q9BU18 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
| Disclaimer | Any 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. | ||||||||
Relevant documents
| Human chromosome 14 Human chromosome 14: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with
