SMC1A

SMC1A
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2WD5
Identifiers
Aliases	SMC1A, CDLS2, DXS423E, SB1.8, SMC1, SMC1L1, SMC1alpha, SMCB, structural maintenance of chromosomes 1A, EIEE85, DEE85
External IDs	OMIM: 300040; MGI: 1344345; HomoloGene: 4597; GeneCards: SMC1A; OMA:SMC1A - orthologs
Gene location (Human) Chr. X chromosome (human) Band Xp11.22 Start 53,374,149 bp End 53,422,728 bp
Gene location (Mouse) Chr. X chromosome (mouse) Band X|X F3 Start 150,799,424 bp End 150,845,690 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in sural nerve trabecular bone embryo tendon of biceps brachii jejunal mucosa germinal epithelium ventricular zone mucosa of sigmoid colon tibia Achilles tendon Top expressed in genital tubercle Rostral migratory stream tail of embryo neural layer of retina fetal liver hematopoietic progenitor cell ventricular zone external carotid artery internal carotid artery dermis maxillary prominence More reference expression data BioGPS More reference expression data
Gene ontology Molecular function nucleotide binding mediator complex binding chromatin binding protein binding protein heterodimerization activity ATP binding RNA binding protein-containing complex binding Cellular component meiotic cohesin complex chromosome nucleoplasm condensed nuclear chromosome chromosome, centromeric region nucleus kinetochore cytosol cohesin complex nuclear matrix mitotic spindle pole Biological process chromosome organization cellular response to DNA damage stimulus stem cell population maintenance cell division negative regulation of DNA endoreduplication mitotic sister chromatid cohesion mitotic sister chromatid segregation cell cycle response to radiation DNA repair sister chromatid cohesion response to DNA damage checkpoint signaling meiosis regulation of mitotic spindle assembly Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 8243 24061 Ensembl ENSG00000072501 ENSMUSG00000041133 UniProt Q14683 Q68EN4 Q9CU62 RefSeq (mRNA) NM_006306 NM_001281463 NM_019710 RefSeq (protein) NP_001268392 NP_006297 NP_006297.2 NP_062684 Location (UCSC) Chr X: 53.37 – 53.42 Mb Chr X: 150.8 – 150.85 Mb PubMed search
Wikidata
View/Edit Human View/Edit Mouse

Structural maintenance of chromosomes protein 1A is a protein that in humans is encoded by the SMC1A gene.

Function

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.

Interactions

SMC1A has been shown to interact with SMC3 and Ataxia telangiectasia mutated.

See also

• SMC protein
• Cornelia de Lange Syndrome

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. doi:10.1093/dnares/9.3.99. PMID 12168954.
• 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. doi:10.1093/hmg/4.2.251. 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. doi:10.1016/0378-1119(94)90293-3. 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. doi:10.1093/dnares/3.1.17. 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. doi:10.1074/jbc.272.38.24081. PMID 9295362.{{cite journal}}: CS1 maint: unflagged free DOI (link)
• 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. doi:10.1073/pnas.95.22.12906. PMC 23650. 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. doi:10.1128/mcb.19.8.5417. PMC 84384. 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. doi:10.1083/jcb.150.3.405. PMC 2175199. 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. doi:10.1083/jcb.151.4.749. PMC 2169443. 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. PMC 99874. 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.{{cite journal}}: CS1 maint: unflagged free DOI (link)
• Andersen JS, Lyon CE, Fox AH, et al. (2002). "Directed proteomic analysis of the human nucleolus". Curr. Biol. 12 (1): 1–11. doi:10.1016/S0960-9822(01)00650-9. 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. PMC 155347. 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. PMC 155356. 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. doi:10.1023/A:1016563523208. 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. PMC 139241. 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. PMC 307577. PMID 14657349.

External links

• GeneReviews/NCBI/UW/NIH entry on Cornelia de Lange Syndrome