SMC1A

From Wikipedia, the free encyclopedia

Structural maintenance of chromosomes 1A

Identifiers

SMC1A; DKFZp686L19178; DXS423E; KIAA0178; MGC138332; SB1.8; SMC1; SMC1L1; SMC1alpha; SMCB

External IDs

OMIM: 300040 MGI: 1344345 HomoloGene: 4597

Gene ontology
Molecular Function:	• nucleotide binding • chromatin binding • microtubule motor activity • protein binding • ATP binding • ATPase activity • protein heterodimerization activity
Cellular Component:	• kinetochore • condensed nuclear chromosome • nucleus • chromosome • cohesin core heterodimer
Biological Process:	• cell cycle checkpoint • DNA metabolic process • DNA repair • cell cycle • mitotic spindle organization and biogenesis • chromosome segregation • mitotic sister chromatid cohesion • meiosis • response to radiation • DNA damage response, signal transduction • chromosome organization and biogenesis • cell division

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_006306 (mRNA)
NP_006297 (protein)

NM_019710 (mRNA)
NP_062684 (protein)

Location

Chr X: 53.42 - 53.47 Mb

Chr X: 147.36 - 147.4 Mb

Pubmed search

[1]

[2]

Structural maintenance of chromosomes 1A, also known as SMC1A, is a human gene.^[1]

Proper cohesion of sister chromatids is a prerequisite for the correct segregation of chromosomes during cell division. The cohesin multiprotein complex is required for sister chromatid cohesion. This complex is composed partly of two structural maintenance of chromosomes (SMC) proteins, SMC3 and either SMC1L2 or the protein encoded by this gene. Most of the cohesin complexes dissociate from the chromosomes before mitosis, although those complexes at the kinetochore remain. Therefore, the encoded protein is thought to be an important part of functional kinetochores. In addition, this protein interacts with BRCA1 and is phosphorylated by ATM, indicating a potential role for this protein in DNA repair. This gene, which belongs to the SMC gene family, is located in an area of the X-chromosome that escapes X inactivation.^[1]

[edit] See also

SMC protein

[edit] References

^ ^a ^b Entrez Gene: SMC1A structural maintenance of chromosomes 1A.

[edit] Further reading

Nakajima D, Okazaki N, Yamakawa H, et al. (2003). "Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones.". DNA Res. 9 (3): 99–106. PMID 12168954.
Rocques PJ, Clark J, Ball S, et al. (1995). "The human SB1.8 gene (DXS423E) encodes a putative chromosome segregation protein conserved in lower eukaryotes and prokaryotes.". Hum. Mol. Genet. 4 (2): 243–9. PMID 7757074.
Brown CJ, Miller AP, Carrel L, et al. (1995). "The DXS423E gene in Xp11.21 escapes X chromosome inactivation.". Hum. Mol. Genet. 4 (2): 251–5. PMID 7757075.
Matoba R, Okubo K, Hori N, et al. (1994). "The addition of 5'-coding information to a 3'-directed cDNA library improves analysis of gene expression.". Gene 146 (2): 199–207. PMID 8076819.
Nagase T, Seki N, Ishikawa K, et al. (1996). "Prediction of the coding sequences of unidentified human genes. V. The coding sequences of 40 new genes (KIAA0161-KIAA0200) deduced by analysis of cDNA clones from human cell line KG-1.". DNA Res. 3 (1): 17–24. PMID 8724849.
Chen Y, Sharp ZD, Lee WH (1997). "HEC binds to the seventh regulatory subunit of the 26 S proteasome and modulates the proteolysis of mitotic cyclins.". J. Biol. Chem. 272 (38): 24081–7. PMID 9295362.
Schmiesing JA, Ball AR, Gregson HC, et al. (1998). "Identification of two distinct human SMC protein complexes involved in mitotic chromosome dynamics.". Proc. Natl. Acad. Sci. U.S.A. 95 (22): 12906–11. PMID 9789013.
Zheng L, Chen Y, Lee WH (1999). "Hec1p, an evolutionarily conserved coiled-coil protein, modulates chromosome segregation through interaction with SMC proteins.". Mol. Cell. Biol. 19 (8): 5417–28. PMID 10409732.
Losada A, Yokochi T, Kobayashi R, Hirano T (2000). "Identification and characterization of SA/Scc3p subunits in the Xenopus and human cohesin complexes.". J. Cell Biol. 150 (3): 405–16. PMID 10931856.
Sumara I, Vorlaufer E, Gieffers C, et al. (2000). "Characterization of vertebrate cohesin complexes and their regulation in prophase.". J. Cell Biol. 151 (4): 749–62. PMID 11076961.
Revenkova E, Eijpe M, Heyting C, et al. (2001). "Novel meiosis-specific isoform of mammalian SMC1.". Mol. Cell. Biol. 21 (20): 6984–98. doi:10.1128/MCB.21.20.6984-6998.2001. PMID 11564881.
Gregson HC, Schmiesing JA, Kim JS, et al. (2002). "A potential role for human cohesin in mitotic spindle aster assembly.". J. Biol. Chem. 276 (50): 47575–82. doi:10.1074/jbc.M103364200. PMID 11590136.
Andersen JS, Lyon CE, Fox AH, et al. (2002). "Directed proteomic analysis of the human nucleolus.". Curr. Biol. 12 (1): 1–11. PMID 11790298.
Kim ST, Xu B, Kastan MB (2002). "Involvement of the cohesin protein, Smc1, in Atm-dependent and independent responses to DNA damage.". Genes Dev. 16 (5): 560–70. doi:10.1101/gad.970602. PMID 11877376.
Yazdi PT, Wang Y, Zhao S, et al. (2002). "SMC1 is a downstream effector in the ATM/NBS1 branch of the human S-phase checkpoint.". Genes Dev. 16 (5): 571–82. doi:10.1101/gad.970702. PMID 11877377.
Gregson HC, Van Hooser AA, Ball AR, et al. (2003). "Localization of human SMC1 protein at kinetochores.". Chromosome Res. 10 (4): 267–77. PMID 12199140.
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. doi:10.1073/pnas.242603899. PMID 12477932.
Stewart GS, Wang B, Bignell CR, et al. (2003). "MDC1 is a mediator of the mammalian DNA damage checkpoint.". Nature 421 (6926): 961–6. doi:10.1038/nature01446. PMID 12607005.
Wang Y, Qin J (2004). "MSH2 and ATR form a signaling module and regulate two branches of the damage response to DNA methylation.". Proc. Natl. Acad. Sci. U.S.A. 100 (26): 15387–92. doi:10.1073/pnas.2536810100. PMID 14657349.