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SMC1B
Identifiers
Aliases	SMC1B, SMC1BETA, SMC1L2, structural maintenance of chromosomes 1B
External IDs	OMIM: 608685; MGI: 2154049; HomoloGene: 13786; GeneCards: SMC1B; OMA:SMC1B - orthologs
Gene location (Human) Chr. Chromosome 22 (human) Band 22q13.31 Start 45,344,063 bp End 45,413,619 bp
Gene location (Mouse) Chr. Chromosome 15 (mouse) Band 15|15 E2 Start 84,948,890 bp End 85,016,165 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in testicle right testis left testis gonad buccal mucosa cell monocyte Achilles tendon lymph node tonsil appendix Top expressed in spermatid spermatocyte seminiferous tubule zygote secondary oocyte primary oocyte morula ovary Gonadal ridge embryo More reference expression data BioGPS n/a
Gene ontology Molecular function DNA binding nucleotide binding ATP binding Cellular component lateral element condensed nuclear chromosome synaptonemal complex chromosome, centromeric region nucleus nucleoplasm chromosome meiotic cohesin complex cytosol Biological process cell cycle meiosis chromosome organization sister chromatid cohesion Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 27127 140557 Ensembl ENSG00000077935 ENSMUSG00000022432 UniProt Q8NDV3 Q920F6 RefSeq (mRNA) NM_001291501 NM_148674 NM_080470 RefSeq (protein) NP_001278430 NP_683515 NP_536718 Location (UCSC) Chr 22: 45.34 – 45.41 Mb Chr 15: 84.95 – 85.02 Mb PubMed search
Wikidata
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Structural maintenance of chromosomes protein 1B (SMC-1B) is a protein that in humans is encoded by the SMC1B gene. SMC proteins engage in chromosome organization and can be broken into 3 groups based on function which are cohesins, condensins, and DNA repair. SMC-1B belongs to a family of proteins required for chromatid cohesion and DNA recombination during meiosis and mitosis. SMC1B protein appears to participate with other cohesins REC8, STAG3 and SMC3 in sister-chromatid cohesion throughout the whole meiotic process in human oocytes.

Function

SMC1B is essential for meiosis in which it has 3 main roles. SMC1B is known to be involved in the fusion of chromosomes during meiosis in both homologous and non-homologous chromosomes. SMC1B develops the axial elements (AE) found in synaptonemal complexes in association with other cohesin proteins REC8 and SMC3 as well as AE proteins SCP2 and SCP3. Sister chromatid cohesion in meiosis is supplied by SMC1B. SMC1B can also protect telomeres from damage, something that SMC1A has not been shown to be capable of. Additionally, in somatic cells SMC1B associates with SMC3 and RAD21 in a mitotic cohesin complex which had been thought to only include SMC1α. Depletion of SMC1B in somatic cells showed dysregulation of some gene expression.

Clinical Significance

Human Papillomavirus (HPV)

Human Papillomavirus (HPV) is a DNA virus and the most prevalent sexually transmitted infection. HPV-16 and HPV-18 are responsible for most cases of cervical cancer from HPV. SMC1B has increased expression in HPV(+) cases. HPV recruits SMC1 along with a transcriptional factor, CTCF, to enable replication of the virus's genome. SMC1 is crucially important to the regulation of the virus life cycle.

Genome Instability and Cancer

SMC1B protects genetic stability from ultraviolet and infrared radiation. Altered expression of SMC1B can cause DNA damage repair to fail that then causes genome instability. Expression of SMC1B higher or lower than normal is associated with certain cancers. Meiotic subunits STAG3 and REC8 are also expressed with SMC1B in cancers. High expression of SMC1B can be associated with pancreatic cancers and ovarian cancer, while low expression increases the risk of cancer progression due to low genetic stability.

References

1. ^ GRCh38: Ensembl release 89: ENSG00000077935 – Ensembl, May 2017
2. ^ GRCm38: Ensembl release 89: ENSMUSG00000022432 – 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. "Entrez Gene: structural maintenance of chromosomes 1B".
6. Dunham I, Shimizu N, Roe BA, Chissoe S, Hunt AR, Collins JE, et al. (December 1999). "The DNA sequence of human chromosome 22". Nature. 402 (6761): 489–495. Bibcode:1999Natur.402..489D. doi:10.1038/990031. PMID 10591208.
7. ^ Revenkova E, Eijpe M, Heyting C, Gross B, Jessberger R (October 2001). "Novel meiosis-specific isoform of mammalian SMC1". Molecular and Cellular Biology. 21 (20): 6984–6998. doi:10.1128/MCB.21.20.6984-6998.2001. PMC 99874. PMID 11564881.
8. Michaelis C, Ciosk R, Nasmyth K (October 1997). "Cohesins: chromosomal proteins that prevent premature separation of sister chromatids". Cell. 91 (1): 35–45. doi:10.1016/S0092-8674(01)80007-6. PMID 9335333. S2CID 18572651.
9. Hirano T, Kobayashi R, Hirano M (May 1997). "Condensins, chromosome condensation protein complexes containing XCAP-C, XCAP-E and a Xenopus homolog of the Drosophila Barren protein". Cell. 89 (4): 511–521. doi:10.1016/S0092-8674(00)80233-0. PMID 9160743. S2CID 15061740.
10. Fousteri MI, Lehmann AR (April 2000). "A novel SMC protein complex in Schizosaccharomyces pombe contains the Rad18 DNA repair protein". The EMBO Journal. 19 (7): 1691–1702. doi:10.1093/emboj/19.7.1691. PMC 310237. PMID 10747036.
11. Mannini L, Cucco F, Quarantotti V, Amato C, Tinti M, Tana L, et al. (December 2015). "SMC1B is present in mammalian somatic cells and interacts with mitotic cohesin proteins". Scientific Reports. 5: 18472. Bibcode:2015NatSR...518472M. doi:10.1038/srep18472. PMC 4682075. PMID 26673124.
12. Garcia-Cruz R, Brieño MA, Roig I, Grossmann M, Velilla E, Pujol A, et al. (September 2010). "Dynamics of cohesin proteins REC8, STAG3, SMC1 beta and SMC3 are consistent with a role in sister chromatid cohesion during meiosis in human oocytes". Human Reproduction. 25 (9): 2316–2327. doi:10.1093/humrep/deq180. PMID 20634189.
13. ^ Biswas U, Wetzker C, Lange J, Christodoulou EG, Seifert M, Beyer A, Jessberger R (Dec 26, 2013). "Meiotic cohesin SMC1β provides prophase I centromeric cohesion and is required for multiple synapsis-associated functions". PLOS Genetics. 9 (12): e1003985. doi:10.1371/journal.pgen.1003985. PMC 3873225. PMID 24385917.
14. Eijpe M, Offenberg H, Jessberger R, Revenkova E, Heyting C (March 2003). "Meiotic cohesin REC8 marks the axial elements of rat synaptonemal complexes before cohesins SMC1beta and SMC3". The Journal of Cell Biology. 160 (5): 657–670. doi:10.1083/jcb.200212080. PMC 2173354. PMID 12615909.
15. Novak I, Wang H, Revenkova E, Jessberger R, Scherthan H, Höög C (January 2008). "Cohesin Smc1beta determines meiotic chromatin axis loop organization". The Journal of Cell Biology. 180 (1): 83–90. doi:10.1083/jcb.200706136. PMC 2213612. PMID 18180366.
16. Biswas U, Stevense M, Jessberger R (January 2018). "SMC1α Substitutes for Many Meiotic Functions of SMC1β but Cannot Protect Telomeres from Damage". Current Biology. 28 (2): 249–261.e4. doi:10.1016/j.cub.2017.12.020. PMC 5788747. PMID 29337080.
17. ^ Mannini L, Cucco F, Quarantotti V, Amato C, Tinti M, Tana L, et al. (December 2015). "SMC1B is present in mammalian somatic cells and interacts with mitotic cohesin proteins". Scientific Reports. 5: 18472. Bibcode:2015NatSR...518472M. doi:10.1038/srep18472. PMC 4682075. PMID 26673124.
18. ^ Yi F, Wang Z, Liu J, Zhang Y, Wang Z, Xu H, et al. (Sep 3, 2017). "Structural Maintenance of Chromosomes protein 1: Role in Genome Stability and Tumorigenesis". International Journal of Biological Sciences. 13 (8): 1092–1099. doi:10.7150/ijbs.21206. PMC 5599913. PMID 28924389.
19. Milner, Danny (2015). Diagnostic pathology. Infectious diseases. Danny A., Jr. Milner, Nicole Pecora, Isaac Solomon, Thing Rinda Soong. Elsevier Health Sciences. pp. 40–42. ISBN 978-0-323-40037-4. OCLC 921986998.
20. ^ Mehta K, Gunasekharan V, Satsuka A, Laimins LA (April 2015). "Human papillomaviruses activate and recruit SMC1 cohesin proteins for the differentiation-dependent life cycle through association with CTCF insulators". PLOS Pathogens. 11 (4): e1004763. doi:10.1371/journal.ppat.1004763. PMC 4395367. PMID 25875106.
21. Degli Esposti D, Sklias A, Lima SC, Beghelli-de la Forest Divonne S, Cahais V, Fernandez-Jimenez N, et al. (April 2017). "Unique DNA methylation signature in HPV-positive head and neck squamous cell carcinomas". Genome Medicine. 9 (1): 33. doi:10.1186/s13073-017-0419-z. PMC 5382363. PMID 28381277.
22. Boukaba A, Liu J, Ward C, Wu Q, Arnaoutov A, Liang J, et al. (October 2022). "Ectopic expression of meiotic cohesin generates chromosome instability in cancer cell line". Proceedings of the National Academy of Sciences of the United States of America. 119 (40): e2204071119. Bibcode:2022PNAS..11904071B. doi:10.1073/pnas.2204071119. PMC 9549395. PMID 36179046.

Further reading

• Zhang X, Yang H, Lee JJ, Kim E, Lippman SM, Khuri FR, et al. (December 2010). "MicroRNA-related genetic variations as predictors for risk of second primary tumor and/or recurrence in patients with early-stage head and neck cancer". Carcinogenesis. 31 (12): 2118–2123. doi:10.1093/carcin/bgq177. PMC 3105587. PMID 20819778.
• Cobbe N, Heck MM (February 2004). "The evolution of SMC proteins: phylogenetic analysis and structural implications". Molecular Biology and Evolution. 21 (2): 332–347. doi:10.1093/molbev/msh023. PMID 14660695.
• Prieto I, Tease C, Pezzi N, Buesa JM, Ortega S, Kremer L, et al. (2004). "Cohesin component dynamics during meiotic prophase I in mammalian oocytes". Chromosome Research. 12 (3): 197–213. doi:10.1023/B:CHRO.0000021945.83198.0e. PMID 15125634. S2CID 411379.
• Lee J, Iwai T, Yokota T, Yamashita M (July 2003). "Temporally and spatially selective loss of Rec8 protein from meiotic chromosomes during mammalian meiosis". Journal of Cell Science. 116 (Pt 13): 2781–2790. doi:10.1242/jcs.00495. PMID 12759374. S2CID 11040339.
• Harrington JJ, Sherf B, Rundlett S, Jackson PD, Perry R, Cain S, et al. (May 2001). "Creation of genome-wide protein expression libraries using random activation of gene expression". Nature Biotechnology. 19 (5): 440–445. doi:10.1038/88107. PMID 11329013. S2CID 25064683.
• Barbe L, Lundberg E, Oksvold P, Stenius A, Lewin E, Björling E, et al. (March 2008). "Toward a confocal subcellular atlas of the human proteome". Molecular & Cellular Proteomics. 7 (3): 499–508. doi:10.1074/mcp.M700325-MCP200. PMID 18029348.

• Genes on human chromosome 22