Protein-coding gene in the species Homo sapiens
UIMC1 |
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Available structures |
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PDB | Ortholog search: PDBe RCSB |
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List of PDB id codes |
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2MKF, 2MKG, 2RR9, 2N9E |
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Identifiers |
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Aliases | UIMC1, RAP80, X2HRIP110, ubiquitin interaction motif containing 1 |
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External IDs | OMIM: 609433; MGI: 103185; HomoloGene: 9455; GeneCards: UIMC1; OMA:UIMC1 - orthologs |
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Gene location (Human) |
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![Chromosome 5 (human)](//upload.wikimedia.org/wikipedia/commons/thumb/6/61/Ideogram_human_chromosome_5.svg/300px-Ideogram_human_chromosome_5.svg.png) | Chr. | Chromosome 5 (human)[1] |
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| Band | 5q35.2 | Start | 176,905,005 bp[1] |
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End | 177,022,633 bp[1] |
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Gene location (Mouse) |
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![Chromosome 13 (mouse)](//upload.wikimedia.org/wikipedia/commons/thumb/0/04/Ideogram_house_mouse_chromosome_13.svg/260px-Ideogram_house_mouse_chromosome_13.svg.png) | Chr. | Chromosome 13 (mouse)[2] |
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| Band | 13|13 B1 | Start | 55,175,693 bp[2] |
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End | 55,248,113 bp[2] |
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RNA expression pattern |
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Bgee | Human | Mouse (ortholog) |
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Top expressed in | - left testis
- right testis
- sural nerve
- Achilles tendon
- monocyte
- left ovary
- granulocyte
- right ovary
- epithelium of colon
- body of uterus
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| Top expressed in | - dentate gyrus of hippocampal formation granule cell
- epiblast
- tunica media of zone of aorta
- Paneth cell
- gastrula
- mesenteric lymph nodes
- body of femur
- spleen
- hair follicle
- bone marrow
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| More reference expression data |
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BioGPS | ![](//upload.wikimedia.org/wikipedia/commons/thumb/5/55/PBB_GE_UIMC1_220746_s_at_fs.png/250px-PBB_GE_UIMC1_220746_s_at_fs.png) | More reference expression data |
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Gene ontology |
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Molecular function | - histone binding
- K63-linked polyubiquitin modification-dependent protein binding
- protein binding
| Cellular component | - BRCA1-A complex
- nucleus
- nucleoplasm
- nuclear body
| Biological process | - response to ionizing radiation
- positive regulation of DNA repair
- histone H2A K63-linked deubiquitination
- negative regulation of transcription, DNA-templated
- double-strand break repair via nonhomologous end joining
- regulation of transcription, DNA-templated
- transcription, DNA-templated
- cellular response to DNA damage stimulus
- double-strand break repair
- DNA repair
- protein deubiquitination
- mitotic G2 DNA damage checkpoint signaling
- chromatin organization
| Sources:Amigo / QuickGO |
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Orthologs |
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Species | Human | Mouse |
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Entrez | | |
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Ensembl | | |
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UniProt | | |
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RefSeq (mRNA) | |
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NM_001199297 NM_001199298 NM_016290 NM_001317961 |
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NM_001293660 NM_011307 NM_001359757 NM_001359758 |
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RefSeq (protein) | |
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NP_001186226 NP_001186227 NP_001304890 NP_057374 |
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NP_001280589 NP_035437 NP_001346686 NP_001346687 |
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Location (UCSC) | Chr 5: 176.91 – 177.02 Mb | Chr 13: 55.18 – 55.25 Mb |
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PubMed search | [3] | [4] |
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Wikidata |
View/Edit Human | View/Edit Mouse |
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BRCA1-A complex subunit RAP80 is a protein that in humans is encoded by the UIMC1 gene.[5][6]
Repair of DNA damage
RAP80, the protein product of the UIMC1 gene, is a core component of the deubiquitin complex BRCA1-A.[7] Other core components of the BRCA1-A complex are the BRCC36 protein (BRCC3 gene), BRE protein (BRE (gene)), and MERIT40 protein (BABAM1 gene).[7]
BRCA1, as distinct from BRCA1-A, is employed in the repair of chromosomal damage with an important role in the error-free homologous recombinational (HR) repair of DNA double-strand breaks. Sequestration of BRCA1 away from the DNA damage site suppresses homologous recombination and redirects the cell in the direction of repair by the process of non-homologous end joining (NHEJ).[7] The role of BRCA1-A complex appears to be to bind BRCA1 with high affinity and withdraw it away from the site of DNA damage to the periphery where it remains sequestered, thus promoting NHEJ in preference to HR.
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000087206 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000025878 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ Yan Z, Kim YS, Jetten AM (Aug 2002). "RAP80, a novel nuclear protein that interacts with the retinoid-related testis-associated receptor". J Biol Chem. 277 (35): 32379–88. doi:10.1074/jbc.M203475200. PMID 12080054.
- ^ "Entrez Gene: UIMC1 ubiquitin interaction motif containing 1".
- ^ a b c Rabl J (October 2020). "BRCA1-A and BRISC: Multifunctional Molecular Machines for Ubiquitin Signaling". Biomolecules. 10 (11). doi:10.3390/biom10111503. PMC 7692841. PMID 33142801.
Further reading
- Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- Kim YS, Nakanishi G, Oudes AJ, et al. (2004). "Tsp57: a novel gene induced during a specific stage of spermatogenesis". Biol. Reprod. 70 (1): 106–13. doi:10.1095/biolreprod.103.018465. PMID 12954732.
- Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
- Colland F, Jacq X, Trouplin V, et al. (2004). "Functional proteomics mapping of a human signaling pathway". Genome Res. 14 (7): 1324–32. doi:10.1101/gr.2334104. PMC 442148. PMID 15231748.
- Beausoleil SA, Jedrychowski M, Schwartz D, et al. (2004). "Large-scale characterization of HeLa cell nuclear phosphoproteins". Proc. Natl. Acad. Sci. U.S.A. 101 (33): 12130–5. Bibcode:2004PNAS..10112130B. doi:10.1073/pnas.0404720101. PMC 514446. PMID 15302935.
- Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
- Olsen JV, Blagoev B, Gnad F, et al. (2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks". Cell. 127 (3): 635–48. doi:10.1016/j.cell.2006.09.026. PMID 17081983. S2CID 7827573.
- Wang B, Matsuoka S, Ballif BA, et al. (2007). "Abraxas and RAP80 form a BRCA1 protein complex required for the DNA damage response". Science. 316 (5828): 1194–8. Bibcode:2007Sci...316.1194W. doi:10.1126/science.1139476. PMC 3573690. PMID 17525340.
- Sobhian B, Shao G, Lilli DR, et al. (2007). "RAP80 targets BRCA1 to specific ubiquitin structures at DNA damage sites". Science. 316 (5828): 1198–202. Bibcode:2007Sci...316.1198S. doi:10.1126/science.1139516. PMC 2706583. PMID 17525341.
- Kim H, Chen J, Yu X (2007). "Ubiquitin-binding protein RAP80 mediates BRCA1-dependent DNA damage response". Science. 316 (5828): 1202–5. Bibcode:2007Sci...316.1202K. doi:10.1126/science.1139621. PMID 17525342. S2CID 31636419.
- Shebzukhov YV, Koroleva EP, Khlgatian SV, et al. (2007). "RAP80/UIMC1 as cancer-associated antigen: alternative splice variants and their immunogenicity". Cancer Lett. 255 (2): 255–62. doi:10.1016/j.canlet.2007.04.013. PMID 17562356.
- Yan J, Kim YS, Yang XP, et al. (2007). "The ubiquitin-interacting motif containing protein RAP80 interacts with BRCA1 and functions in DNA damage repair response". Cancer Res. 67 (14): 6647–56. doi:10.1158/0008-5472.CAN-07-0924. PMC 2391092. PMID 17621610.
- Yan J, Yang XP, Kim YS, et al. (2007). "RAP80 interacts with the SUMO-conjugating enzyme UBC9 and is a novel target for sumoylation". Biochem. Biophys. Res. Commun. 362 (1): 132–8. doi:10.1016/j.bbrc.2007.07.158. PMC 2049087. PMID 17698038.