SMC3

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Structural maintenance of chromosomes 3
Identifiers
Symbols SMC3 ; BAM; BMH; CDLS3; CSPG6; HCAP; SMC3L1
External IDs OMIM606062 MGI1339795 HomoloGene3974 GeneCards: SMC3 Gene
RNA expression pattern
PBB GE SMC3 209259 s at tn.png
PBB GE SMC3 209257 s at tn.png
PBB GE SMC3 209258 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 9126 13006
Ensembl ENSG00000108055 ENSMUSG00000024974
UniProt Q9UQE7 Q9CW03
RefSeq (mRNA) NM_005445 NM_007790
RefSeq (protein) NP_005436 NP_031816
Location (UCSC) Chr 10:
112.33 – 112.36 Mb
Chr 19:
53.6 – 53.65 Mb
PubMed search [1] [2]

Structural maintenance of chromosomes 3, also known as SMC3, is a human gene.[1] This gene belongs to the SMC3 subfamily of SMC proteins. The encoded protein occurs in certain cell types as either an intracellular, nuclear protein or a secreted protein. The nuclear form, known as structural maintenance of chromosomes 3, is a component of the multimeric cohesin complex that holds together sister chromatids during mitosis, enabling proper chromosome segregation. Post-translational modification of the encoded protein by the addition of chondroitin sulfate chains gives rise to the secreted proteoglycan bamacan, an abundant basement membrane protein.[1]

Model organisms[edit]

Model organisms have been used in the study of SMC3 function. A conditional knockout mouse line, called Smc3tm1a(EUCOMM)Wtsi[9][10] was generated as part of the International Knockout Mouse Consortium program — a high-throughput mutagenesis project to generate and distribute animal models of disease to interested scientists.[11][12][13]

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.[7][14] Twenty two tests were carried out on mutant mice and six significant abnormalities were observed.[7] No homozygous mutant embryos were identified during gestation, and thus none survived until weaning. The remaining tests were carried out on heterozygous mutant adult mice. Females had a higher than normal incidence of pre-wean death in their offspring, and also had a decreased body weight. Males heterozygotes displayed a shortened, upturned snout.[7][14]

Interactions[edit]

SMC3 (gene) has been shown to interact with REC8,[15] MXD1,[16] KIFAP3,[17] MXI1[16] and SMC1A.[15][18][19][20]

See also[edit]

References[edit]

  1. ^ a b "Entrez Gene: SMC3 structural maintenance of chromosomes 3". 
  2. ^ "Body weight data for Smc3". Wellcome Trust Sanger Institute. 
  3. ^ "Dysmorphology data for Smc3". Wellcome Trust Sanger Institute. 
  4. ^ "DEXA data for Smc3". Wellcome Trust Sanger Institute. 
  5. ^ "Salmonella infection data for Smc3". Wellcome Trust Sanger Institute. 
  6. ^ "Citrobacter infection data for Smc3". Wellcome Trust Sanger Institute. 
  7. ^ a b c d 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. 
  8. ^ Mouse Resources Portal, Wellcome Trust Sanger Institute.
  9. ^ "International Knockout Mouse Consortium". 
  10. ^ "Mouse Genome Informatics". 
  11. ^ Skarnes, W. C.; Rosen, B.; West, A. P.; Koutsourakis, M.; Bushell, W.; Iyer, V.; Mujica, A. O.; Thomas, M.; Harrow, J.; Cox, T.; Jackson, D.; Severin, J.; Biggs, P.; Fu, J.; Nefedov, M.; De Jong, P. J.; Stewart, A. F.; Bradley, A. (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.  edit
  12. ^ Dolgin E (2011). "Mouse library set to be knockout". Nature 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718. 
  13. ^ Collins FS, Rossant J, Wurst W (2007). "A Mouse for All Reasons". Cell 128 (1): 9–13. doi:10.1016/j.cell.2006.12.018. PMID 17218247. 
  14. ^ a b van der Weyden L, White JK, Adams DJ, Logan DW (2011). "The mouse genetics toolkit: revealing function and mechanism.". Genome Biol 12 (6): 224. doi:10.1186/gb-2011-12-6-224. PMC 3218837. PMID 21722353. 
  15. ^ a b Lee, Jibak; Iwai Toshiharu, Yokota Takehiro, Yamashita Masakane (July 2003). "Temporally and spatially selective loss of Rec8 protein from meiotic chromosomes during mammalian meiosis". J. Cell. Sci. (England) 116 (Pt 13): 2781–90. doi:10.1242/jcs.00495. ISSN 0021-9533. PMID 12759374. 
  16. ^ a b Gupta, K; Anand G, Yin X, Grove L, Prochownik E V (March 1998). "Mmip1: a novel leucine zipper protein that reverses the suppressive effects of Mad family members on c-myc". Oncogene (ENGLAND) 16 (9): 1149–59. doi:10.1038/sj.onc.1201634. ISSN 0950-9232. PMID 9528857. 
  17. ^ Shimizu, K; Shirataki H, Honda T, Minami S, Takai Y (March 1998). "Complex formation of SMAP/KAP3, a KIF3A/B ATPase motor-associated protein, with a human chromosome-associated polypeptide". J. Biol. Chem. (UNITED STATES) 273 (12): 6591–4. doi:10.1074/jbc.273.12.6591. ISSN 0021-9258. PMID 9506951. 
  18. ^ Kim, Seong-Tae; Xu Bo, Kastan Michael B (March 2002). "Involvement of the cohesin protein, Smc1, in Atm-dependent and independent responses to DNA damage". Genes Dev. (United States) 16 (5): 560–70. doi:10.1101/gad.970602. ISSN 0890-9369. PMC 155347. PMID 11877376. 
  19. ^ Schmiesing, J A; Ball A R, Gregson H C, Alderton J M, Zhou S, Yokomori K (October 1998). "Identification of two distinct human SMC protein complexes involved in mitotic chromosome dynamics". Proc. Natl. Acad. Sci. U.S.A. (UNITED STATES) 95 (22): 12906–11. doi:10.1073/pnas.95.22.12906. ISSN 0027-8424. PMC 23650. PMID 9789013. 
  20. ^ Gregson, H C; Schmiesing J A, Kim J S, Kobayashi T, Zhou S, Yokomori K (Dec 2001). "A potential role for human cohesin in mitotic spindle aster assembly". J. Biol. Chem. (United States) 276 (50): 47575–82. doi:10.1074/jbc.M103364200. ISSN 0021-9258. PMID 11590136. 

Further reading[edit]

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