RMI1

Protein-coding gene in the species Homo sapiens

RMI1

| Available structures

PDB| Ortholog search: PDBe RCSB
| List of PDB id codes

3MXN, 3NBH, 3NBI, 4CGY, 4CHT, 4DAY

Identifiers
Aliases| RMI1, BLAP75, C9orf76, FAAP75, RecQ mediated genome instability 1
External IDs| OMIM: 610404; MGI: 1921636; HomoloGene: 41601; GeneCards: RMI1; OMA:RMI1 - orthologs
| Gene location (Human)

Chr.| Chromosome 9 (human)[1]

Band| 9q21.32| Start| 83,980,798 bp[1]
End| 84,004,074 bp[1]
| Gene location (Mouse)

Chr.| Chromosome 13 (mouse)[2]

Band| 13|13 B1| Start| 58,550,062 bp[2]
End| 58,558,962 bp[2]
| RNA expression pattern

Bgee| | Human| Mouse (ortholog)

|

| Top expressed in

* oocyte

* secondary oocyte

* Epithelium of choroid plexus

* gonad

* bronchial epithelial cell

* ventricular zone

* embryo

* ganglionic eminence

* testicle

* retinal pigment epithelium

| Top expressed in

* zygote

* secondary oocyte

* spermatocyte

* Rostral migratory stream

* spermatid

* genital tubercle

* tail of embryo

* hand

* primary oocyte

* otolith organ

More reference expression data
BioGPS| |

More reference expression data
| Gene ontology

Molecular function|

* nucleotide binding
* protein binding

Cellular component|

* nucleus
* nucleoplasm
* nuclear body
* RecQ family helicase-topoisomerase III complex

Biological process|

* DNA replication
* response to dietary excess
* reduction of food intake in response to dietary excess
* response to glucose
* multicellular organism growth
* glucose homeostasis
* resolution of meiotic recombination intermediates
* double-strand break repair via homologous recombination
* regulation of signal transduction by p53 class mediator

Sources:Amigo / QuickGO
| Orthologs

Species| Human| Mouse
Entrez| |

80010

74386

Ensembl| |

ENSG00000178966

ENSMUSG00000035367

UniProt| |

Q9H9A7

Q9D4G9

RefSeq (mRNA)| |

NM_024945
NM_001358291
NM_001358292
NM_001358293
NM_001358294

NM_001168248
NM_028904

RefSeq (protein)| |

NP_079221
NP_001345220
NP_001345221
NP_001345222
NP_001345223

NP_001161720
NP_083180

Location (UCSC)| Chr 9: 83.98 – 84 Mb| Chr 13: 58.55 – 58.56 Mb
PubMed search| [3]| [4]
Wikidata
| View/Edit Human| View/Edit Mouse

|

RecQ-mediated genome instability protein 1 is a protein that in humans is encoded by the RMI1 gene.[5][6]

## Genetic disorders

[edit]

Mutations in RMI1 are associated with Bloom-Syndrome like disorder.[7] Two patients, both with microcephalic dwarfism came from the same family. They carried identical heterozygous mutations: [1255_1259del][Lys419LeufsTer5].

## Function

[edit]

RMI1 protein is a component of the Bloom Syndrome Complex.[8] RMI1 protein is made up of 2 OB (oligonucleotide binding) domains. OB1 binds to Topoisomerase III alpha,[9] while OB2 binds to RMI2 within the Bloom Syndrome complex, and FANCM of the Fanconi Anaemia pathway.[10]

An insert within OB1 domain of RMI1 inserts into the catalytic centre of Topoisomerase III alpha, and is necessary for the optimal activity of this enzyme during cellular DNA repair and homologous recombination.[9]

## Meiosis

[edit]

During meiosis in budding yeast Saccharomyces cerevisiae, TOP3 (a type I topoisomerase) and its accessory factor RMI1 form a heterodimer that functions to allow passage of one DNA single strand through another. The TOP3-RMI1 heterodimer associates with Sgs1 (Bloom helicase ortholog) to form a complex that catalyzes dissolution of double Holliday junctions.[11] Furthermore, the TOP3-RMI1 heterodimer participates in all meiotic recombination functions associated with Sgs1, most significantly as an early recombination intermediate chaperone, promoting regulated crossover and non-crossover recombination and preventing accumulation of aberrant recombination intermediates.[12] In particular, the TOP3-RMI1–SGS1 complex promotes early formation of non-crossover recombinants during meiosis.[12]

## References

[edit]

1. ^ a b c GRCh38: Ensembl release 89: ENSG00000178966 - Ensembl, May 2017
2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000035367 - 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. ^ Yin J, Sobeck A, Xu C, Meetei AR, Hoatlin M, Li L, Wang W (April 2005). "BLAP75, an essential component of Bloom's syndrome protein complexes that maintain genome integrity". The EMBO Journal. 24 (7): 1465–1476\. doi:10.1038/sj.emboj.7600622. PMC 1142546. PMID 15775963.1465-1476&rft.date=2005-04&rft_id=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1142546#id-name=PMC&rft_id=info:pmid/15775963&rft_id=info:doi/10.1038/sj.emboj.7600622&rft.aulast=Yin&rft.aufirst=J&rft.au=Sobeck,+A&rft.au=Xu,+C&rft.au=Meetei,+AR&rft.au=Hoatlin,+M&rft.au=Li,+L&rft.au=Wang,+W&rft_id=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1142546&rfr_id=info:sid/en.wikipedia.org:RMI1" class="Z3988">
6. ^ "Entrez Gene: RMI1 RMI1, RecQ mediated genome instability 1, homolog (S. cerevisiae)".
7. ^ Martin CA, Sarlós K, Logan CV, Thakur RS, Parry DA, Bizard AH, et al. (August 2018). "Mutations in TOP3A Cause a Bloom Syndrome-like Disorder". American Journal of Human Genetics. 103 (2): 221–231\. doi:10.1016/j.ajhg.2018.07.001. PMC 6080766. PMID 30057030.221-231&rft.date=2018-08&rft_id=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6080766#id-name=PMC&rft_id=info:pmid/30057030&rft_id=info:doi/10.1016/j.ajhg.2018.07.001&rft.aulast=Martin&rft.aufirst=CA&rft.au=Sarlós,+K&rft.au=Logan,+CV&rft.au=Thakur,+RS&rft.au=Parry,+DA&rft.au=Bizard,+AH&rft.au=Leitch,+A&rft.au=Cleal,+L&rft.au=Ali,+NS&rft.au=Al-Owain,+MA&rft.au=Allen,+W&rft.au=Altmüller,+J&rft.au=Aza-Carmona,+M&rft.au=Barakat,+BA&rft.au=Barraza-García,+J&rft.au=Begtrup,+A&rft.au=Bogliolo,+M&rft.au=Cho,+MT&rft.au=Cruz-Rojo,+J&rft.au=Dhahrabi,+HA&rft.au=Elcioglu,+NH&rft.au=Gorman,+GS&rft.au=Jobling,+R&rft.au=Kesterton,+I&rft.au=Kishita,+Y&rft.au=Kohda,+M&rft.au=Le+Quesne+Stabej,+P&rft.au=Malallah,+AJ&rft.au=Nürnberg,+P&rft.au=Ohtake,+A&rft.au=Okazaki,+Y&rft.au=Pujol,+R&rft.au=Ramirez,+MJ&rft.au=Revah-Politi,+A&rft.au=Shimura,+M&rft.au=Stevens,+P&rft.au=Taylor,+RW&rft.au=Turner,+L&rft.au=Williams,+H&rft.au=Wilson,+C&rft.au=Yigit,+G&rft.au=Zahavich,+L&rft.au=Alkuraya,+FS&rft.au=Surralles,+J&rft.au=Iglesias,+A&rft.au=Murayama,+K&rft.au=Wollnik,+B&rft.au=Dattani,+M&rft.au=Heath,+KE&rft.au=Hickson,+ID&rft.au=Jackson,+AP&rft_id=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6080766&rfr_id=info:sid/en.wikipedia.org:RMI1" class="Z3988">
8. ^ Hodson C, Low JK, van Twest S, Jones SE, Swuec P, Murphy V, et al. (February 2022). "Mechanism of Bloom syndrome complex assembly required for double Holliday junction dissolution and genome stability". Proceedings of the National Academy of Sciences of the United States of America. 119 (6): e2109093119. Bibcode:2022PNAS..11909093H. doi:10.1073/pnas.2109093119. PMC 8832983. PMID 35115399.
9. ^ a b Bocquet N, Bizard AH, Abdulrahman W, Larsen NB, Faty M, Cavadini S, et al. (March 2014). "Structural and mechanistic insight into Holliday-junction dissolution by topoisomerase IIIα and RMI1". Nature Structural & Molecular Biology. 21 (3): 261–268\. doi:10.1038/nsmb.2775. PMC 4292918. PMID 24509834.261-268&rft.date=2014-03&rft_id=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4292918#id-name=PMC&rft_id=info:pmid/24509834&rft_id=info:doi/10.1038/nsmb.2775&rft.aulast=Bocquet&rft.aufirst=N&rft.au=Bizard,+AH&rft.au=Abdulrahman,+W&rft.au=Larsen,+NB&rft.au=Faty,+M&rft.au=Cavadini,+S&rft.au=Bunker,+RD&rft.au=Kowalczykowski,+SC&rft.au=Cejka,+P&rft.au=Hickson,+ID&rft.au=Thomä,+NH&rft_id=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4292918&rfr_id=info:sid/en.wikipedia.org:RMI1" class="Z3988">
10. ^ Deans AJ, West SC (December 2009). "FANCM connects the genome instability disorders Bloom's Syndrome and Fanconi Anemia". Molecular Cell. 36 (6): 943–953\. doi:10.1016/j.molcel.2009.12.006. PMID 20064461.943-953&rft.date=2009-12&rft_id=info:doi/10.1016/j.molcel.2009.12.006&rft_id=info:pmid/20064461&rft.aulast=Deans&rft.aufirst=AJ&rft.au=West,+SC&rft_id=https://doi.org/10.1016%2Fj.molcel.2009.12.006&rfr_id=info:sid/en.wikipedia.org:RMI1" class="Z3988">
11. ^ Bizard AH, Hickson ID (July 2014). "The dissolution of double Holliday junctions". Cold Spring Harbor Perspectives in Biology. 6 (7): a016477. doi:10.1101/cshperspect.a016477. PMC 4067992. PMID 24984776.
12. ^ a b Kaur H, De Muyt A, Lichten M (February 2015). "Top3-Rmi1 DNA single-strand decatenase is integral to the formation and resolution of meiotic recombination intermediates". Molecular Cell. 57 (4): 583–594\. doi:10.1016/j.molcel.2015.01.020. PMC 4338413. PMID 25699707.583-594&rft.date=2015-02&rft_id=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4338413#id-name=PMC&rft_id=info:pmid/25699707&rft_id=info:doi/10.1016/j.molcel.2015.01.020&rft.aulast=Kaur&rft.aufirst=H&rft.au=De+Muyt,+A&rft.au=Lichten,+M&rft_id=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4338413&rfr_id=info:sid/en.wikipedia.org:RMI1" class="Z3988">

## Further reading

[edit]

* Strausberg RL, Feingold EA, Grouse LH, Derge JG, Klausner RD, Collins FS, et al. (December 2002). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proceedings of the National Academy of Sciences of the United States of America. 99 (26): 16899–16903\. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.16899-16903&rft.date=2002-12&rft_id=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC139241#id-name=PMC&rft_id=info:pmid/12477932&rft_id=info:doi/10.1073/pnas.242603899&rft_id=info:bibcode/2002PNAS...9916899M&rft.aulast=Strausberg&rft.aufirst=RL&rft.au=Feingold,+EA&rft.au=Grouse,+LH&rft.au=Derge,+JG&rft.au=Klausner,+RD&rft.au=Collins,+FS&rft.au=Wagner,+L&rft.au=Shenmen,+CM&rft.au=Schuler,+GD&rft.au=Altschul,+SF&rft.au=Zeeberg,+B&rft.au=Buetow,+KH&rft.au=Schaefer,+CF&rft.au=Bhat,+NK&rft.au=Hopkins,+RF&rft.au=Jordan,+H&rft.au=Moore,+T&rft.au=Max,+SI&rft.au=Wang,+J&rft.au=Hsieh,+F&rft.au=Diatchenko,+L&rft.au=Marusina,+K&rft.au=Farmer,+AA&rft.au=Rubin,+GM&rft.au=Hong,+L&rft.au=Stapleton,+M&rft.au=Soares,+MB&rft.au=Bonaldo,+MF&rft.au=Casavant,+TL&rft.au=Scheetz,+TE&rft.au=Brownstein,+MJ&rft.au=Usdin,+TB&rft.au=Toshiyuki,+S&rft.au=Carninci,+P&rft.au=Prange,+C&rft.au=Raha,+SS&rft.au=Loquellano,+NA&rft.au=Peters,+GJ&rft.au=Abramson,+RD&rft.au=Mullahy,+SJ&rft.au=Bosak,+SA&rft.au=McEwan,+PJ&rft.au=McKernan,+KJ&rft.au=Malek,+JA&rft.au=Gunaratne,+PH&rft.au=Richards,+S&rft.au=Worley,+KC&rft.au=Hale,+S&rft.au=Garcia,+AM&rft.au=Gay,+LJ&rft.au=Hulyk,+SW&rft.au=Villalon,+DK&rft.au=Muzny,+DM&rft.au=Sodergren,+EJ&rft.au=Lu,+X&rft.au=Gibbs,+RA&rft.au=Fahey,+J&rft.au=Helton,+E&rft.au=Ketteman,+M&rft.au=Madan,+A&rft.au=Rodrigues,+S&rft.au=Sanchez,+A&rft.au=Whiting,+M&rft.au=Madan,+A&rft.au=Young,+AC&rft.au=Shevchenko,+Y&rft.au=Bouffard,+GG&rft.au=Blakesley,+RW&rft.au=Touchman,+JW&rft.au=Green,+ED&rft.au=Dickson,+MC&rft.au=Rodriguez,+AC&rft.au=Grimwood,+J&rft.au=Schmutz,+J&rft.au=Myers,+RM&rft.au=Butterfield,+YS&rft.au=Krzywinski,+MI&rft.au=Skalska,+U&rft.au=Smailus,+DE&rft.au=Schnerch,+A&rft.au=Schein,+JE&rft.au=Jones,+SJ&rft.au=Marra,+MA&rft_id=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC139241&rfr_id=info:sid/en.wikipedia.org:RMI1" class="Z3988">
* Meetei AR, de Winter JP, Medhurst AL, Wallisch M, Waisfisz Q, van de Vrugt HJ, et al. (October 2003). "A novel ubiquitin ligase is deficient in Fanconi anemia". Nature Genetics. 35 (2): 165–170\. doi:10.1038/ng1241. PMID 12973351. S2CID 10149290.165-170&rft.date=2003-10&rft_id=https://api.semanticscholar.org/CorpusID:10149290#id-name=S2CID&rft_id=info:pmid/12973351&rft_id=info:doi/10.1038/ng1241&rft.aulast=Meetei&rft.aufirst=AR&rft.au=de+Winter,+JP&rft.au=Medhurst,+AL&rft.au=Wallisch,+M&rft.au=Waisfisz,+Q&rft.au=van+de+Vrugt,+HJ&rft.au=Oostra,+AB&rft.au=Yan,+Z&rft.au=Ling,+C&rft.au=Bishop,+CE&rft.au=Hoatlin,+ME&rft.au=Joenje,+H&rft.au=Wang,+W&rfr_id=info:sid/en.wikipedia.org:RMI1" class="Z3988">
* Suzuki Y, Yamashita R, Shirota M, Sakakibara Y, Chiba J, Mizushima-Sugano J, et al. (September 2004). "Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions". Genome Research. 14 (9): 1711–1718\. doi:10.1101/gr.2435604. PMC 515316. PMID 15342556.1711-1718&rft.date=2004-09&rft_id=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC515316#id-name=PMC&rft_id=info:pmid/15342556&rft_id=info:doi/10.1101/gr.2435604&rft.aulast=Suzuki&rft.aufirst=Y&rft.au=Yamashita,+R&rft.au=Shirota,+M&rft.au=Sakakibara,+Y&rft.au=Chiba,+J&rft.au=Mizushima-Sugano,+J&rft.au=Nakai,+K&rft.au=Sugano,+S&rft_id=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC515316&rfr_id=info:sid/en.wikipedia.org:RMI1" class="Z3988">
* Wu L, Bachrati CZ, Ou J, Xu C, Yin J, Chang M, et al. (March 2006). "BLAP75/RMI1 promotes the BLM-dependent dissolution of homologous recombination intermediates". Proceedings of the National Academy of Sciences of the United States of America. 103 (11): 4068–4073\. Bibcode:2006PNAS..103.4068W. doi:10.1073/pnas.0508295103. PMC 1449647. PMID 16537486.4068-4073&rft.date=2006-03&rft_id=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1449647#id-name=PMC&rft_id=info:pmid/16537486&rft_id=info:doi/10.1073/pnas.0508295103&rft_id=info:bibcode/2006PNAS..103.4068W&rft.aulast=Wu&rft.aufirst=L&rft.au=Bachrati,+CZ&rft.au=Ou,+J&rft.au=Xu,+C&rft.au=Yin,+J&rft.au=Chang,+M&rft.au=Wang,+W&rft.au=Li,+L&rft.au=Brown,+GW&rft.au=Hickson,+ID&rft_id=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1449647&rfr_id=info:sid/en.wikipedia.org:RMI1" class="Z3988">
* Raynard S, Bussen W, Sung P (May 2006). "A double Holliday junction dissolvasome comprising BLM, topoisomerase IIIalpha, and BLAP75". The Journal of Biological Chemistry. 281 (20): 13861–13864\. doi:10.1074/jbc.C600051200. PMID 16595695.13861-13864&rft.date=2006-05&rft_id=info:doi/10.1074/jbc.C600051200&rft_id=info:pmid/16595695&rft.aulast=Raynard&rft.aufirst=S&rft.au=Bussen,+W&rft.au=Sung,+P&rft_id=https://doi.org/10.1074%2Fjbc.C600051200&rfr_id=info:sid/en.wikipedia.org:RMI1" class="Z3988">
* Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M (November 2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks". Cell. 127 (3): 635–648\. doi:10.1016/j.cell.2006.09.026. PMID 17081983. S2CID 7827573.635-648&rft.date=2006-11&rft_id=https://api.semanticscholar.org/CorpusID:7827573#id-name=S2CID&rft_id=info:pmid/17081983&rft_id=info:doi/10.1016/j.cell.2006.09.026&rft.aulast=Olsen&rft.aufirst=JV&rft.au=Blagoev,+B&rft.au=Gnad,+F&rft.au=Macek,+B&rft.au=Kumar,+C&rft.au=Mortensen,+P&rft.au=Mann,+M&rft_id=https://doi.org/10.1016%2Fj.cell.2006.09.026&rfr_id=info:sid/en.wikipedia.org:RMI1" class="Z3988">
* Bussen W, Raynard S, Busygina V, Singh AK, Sung P (October 2007). "Holliday junction processing activity of the BLM-Topo IIIalpha-BLAP75 complex". The Journal of Biological Chemistry. 282 (43): 31484–31492\. doi:10.1074/jbc.M706116200. PMID 17728255.31484-31492&rft.date=2007-10&rft_id=info:doi/10.1074/jbc.M706116200&rft_id=info:pmid/17728255&rft.aulast=Bussen&rft.aufirst=W&rft.au=Raynard,+S&rft.au=Busygina,+V&rft.au=Singh,+AK&rft.au=Sung,+P&rft_id=https://doi.org/10.1074%2Fjbc.M706116200&rfr_id=info:sid/en.wikipedia.org:RMI1" class="Z3988">
* Broberg K, Höglund M, Gustafsson C, Björk J, Ingvar C, Albin M, Olsson H (December 2007). "Genetic variant of the human homologous recombination-associated gene RMI1 (S455N) impacts the risk of AML/MDS and malignant melanoma". Cancer Letters. 258 (1): 38–44\. doi:10.1016/j.canlet.2007.08.005. PMID 17900800.38-44&rft.date=2007-12&rft_id=info:doi/10.1016/j.canlet.2007.08.005&rft_id=info:pmid/17900800&rft.aulast=Broberg&rft.aufirst=K&rft.au=Höglund,+M&rft.au=Gustafsson,+C&rft.au=Björk,+J&rft.au=Ingvar,+C&rft.au=Albin,+M&rft.au=Olsson,+H&rfr_id=info:sid/en.wikipedia.org:RMI1" class="Z3988">

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