REPIN1

Replication initiator 1 is a protein that in humans is encoded by the REPIN1 gene.[5][6]The protein helps enable RNA binding activity as a replication initiation-region protein. The make up of REPIN 1 include three zinc finger hand clusters that organize polydactyl zinc finger proteins containing 15 zing finger DNA- binding motifs.[7] It has also been predicted to help in regulation of transcription via RNA polymerase II with it being located in the nucleoplasm. Expression of this protein has been seen in the colon, spleen, kidney, and 23 other tissues within the human body throughout.[8]

REPIN1
Identifiers
AliasesREPIN1, AP4, RIP60, ZNF464, Zfp464, replication initiator 1
External IDsMGI: 1889817 HomoloGene: 22810 GeneCards: REPIN1
Orthologs
SpeciesHumanMouse
Entrez

29803

58887

Ensembl

ENSG00000214022

ENSMUSG00000052751

UniProt

Q9BWE0

Q5U4E2

RefSeq (mRNA)
RefSeq (protein)
Location (UCSC)Chr 7: 150.37 – 150.37 MbChr 6: 48.57 – 48.58 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

History

REPIN 1 originally was first identified in a study focusing on replication of dihydrofolate reductase gene (dhfr) in Chinese hamsters, with it initiating near stable bent DNA that binds to multiple factors. In the paper scientists used protein DNA cross linking experiments that revealed the 60-kDa polypeptide, with it being labeled by its alternative name RIP60. Due to the cofractionating of ATP-dependent DNA helicase with DNA-binding activity that was origin specific, the study suggested that RIP60 was involved with chromosomal DNA synthesis in mammalian cells.[9]

Genetics

REPIN 1 can be found on chromosome 7q36.1 according to the National Center for Biotechnology Information.[10] REPIN 1 acts as a specific sequence binding protein in human DNA which is required for the start of chromosomal replication. Located in the nucleoplasm and part of the nuclear origin of replication recognition complex within the nucleus, it first binds on 5'-ATT'3' of the sequence. It does this on reiterated sequences downstream of the origin of bidirectional replication (OBR), and at a second 5'-ATT-3' homologous sequence opposite of the orientation within the OBR zone.[11] It encodes proteins containing fifteen C2H2 zinc finger DNA binding motifs to three clusters referred to as hands Z1 (ZFs 1-5), Z2 (ZFs 6-8), and Z3 (ZFs 9-15) with proline rich areas being present between them.[12]

Model organisms

Model organisms have been used in the study of REPIN1 function. A conditional knockout mouse line called Repin1tm1a(EUCOMM)Wtsi was generated at the Wellcome Trust Sanger Institute.[13] Male and female animals underwent a standardized phenotypic screen[14] to determine the effects of deletion.[15][16][17][18] Additional screens performed: - In-depth immunological phenotyping.[19]

References
  1. GRCh38: Ensembl release 89: ENSG00000214022 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000052751 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. Houchens CR, Montigny W, Zeltser L, Dailey L, Gilbert JM, Heintz NH (January 2000). "The dhfr oribeta-binding protein RIP60 contains 15 zinc fingers: DNA binding and looping by the central three fingers and an associated proline-rich region". Nucleic Acids Research. 28 (2): 570–581. doi:10.1093/nar/28.2.570. PMC 102514. PMID 10606657.
  6. "Entrez Gene: REPIN1 replication initiator 1".
  7. Heiker JT, Klöting N (2013-01-01). Litwack G (ed.). "Replication initiator 1 in adipose tissue function and human obesity". Vitamins and Hormones. Obesity. Academic Press. 91: 97–105. PMID 23374714.
  8. "REPIN1 replication initiator 1 [Homo sapiens (human)] - Gene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2023-10-18.
  9. Dailey L, Caddle MS, Heintz N, Heintz NH (December 1990). "Purification of RIP60 and RIP100, mammalian proteins with origin-specific DNA-binding and ATP-dependent DNA helicase activities". Molecular and Cellular Biology. 10 (12): 6225–6235. PMC 362897. PMID 2174103.
  10. "REPIN1 replication initiator 1 [Homo sapiens (human)] - Gene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2023-10-18.
  11. "UniProt". www.uniprot.org. Retrieved 2023-10-18.
  12. Klöting N, Wilke B, Klöting I (July 2007). "Triplet repeat in the Repin1 3'-untranslated region on rat chromosome 4 correlates with facets of the metabolic syndrome". Diabetes/Metabolism Research and Reviews. 23 (5): 406–410. doi:10.1002/dmrr.713. PMID 17173329.
  13. Gerdin AK (2010). "The Sanger Mouse Genetics Programme: high throughput characterisation of knockout mice". Acta Ophthalmologica. 88: 925–7. doi:10.1111/j.1755-3768.2010.4142.x. S2CID 85911512.
  14. "International Mouse Phenotyping Consortium".
  15. Skarnes WC, Rosen B, West AP, Koutsourakis M, Bushell W, Iyer V, et al. (June 2011). "A conditional knockout resource for the genome-wide study of mouse gene function". Nature. 474 (7351): 337–342. doi:10.1038/nature10163. PMC 3572410. PMID 21677750.
  16. Dolgin E (June 2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–263. doi:10.1038/474262a. PMID 21677718.
  17. Collins FS, Rossant J, Wurst W (January 2007). "A mouse for all reasons". Cell. 128 (1): 9–13. doi:10.1016/j.cell.2006.12.018. PMID 17218247. S2CID 18872015.
  18. White JK, Gerdin AK, Karp NA, Ryder E, Buljan M, Bussell JN, et al. (July 2013). "Genome-wide generation and systematic phenotyping of knockout mice reveals new roles for many genes". Cell. 154 (2): 452–464. doi:10.1016/j.cell.2013.06.022. PMC 3717207. PMID 23870131.
  19. "Infection and Immunity Immunophenotyping (3i) Consortium".

Further reading

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