SMC1A

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Structural maintenance of chromosomes 1A
Identifiers
Symbols SMC1A ; CDLS2; DXS423E; SB1.8; SMC1; SMC1L1; SMC1alpha; SMCB
External IDs OMIM300040 MGI1344345 HomoloGene4597 GeneCards: SMC1A Gene
RNA expression pattern
PBB GE SMC1A 201589 at tn.png
PBB GE SMC1A 217555 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 8243 24061
Ensembl ENSG00000072501 ENSMUSG00000041133
UniProt Q14683 Q9CU62
RefSeq (mRNA) NM_001281463 NM_019710
RefSeq (protein) NP_001268392 NP_062684
Location (UCSC) Chr HG1433_PATCH:
53.12 – 53.17 Mb
Chr X:
152.02 – 152.06 Mb
PubMed search [1] [2]

Structural maintenance of chromosomes protein 1A is a protein that in humans is encoded by the SMC1A gene.[1][2]

Function[edit]

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.[2]

Interactions[edit]

SMC1A has been shown to interact with SMC3[3][4][5][6] and Ataxia telangiectasia mutated.[3]

See also[edit]

References[edit]

  1. ^ Rocques PJ, Clark J, Ball S, Crew J, Gill S, Christodoulou Z, Borts RH, Louis EJ, Davies KE, Cooper CS (June 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. doi:10.1093/hmg/4.2.243. PMID 7757074. 
  2. ^ a b "Entrez Gene: SMC1A structural maintenance of chromosomes 1A". 
  3. ^ a b Kim ST, Xu B, Kastan MB (March 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. 
  4. ^ Lee J, Iwai T, Yokota T, Yamashita M (July 2003). "Temporally and spatially selective loss of Rec8 protein from meiotic chromosomes during mammalian meiosis". J. Cell. Sci. 116 (Pt 13): 2781–90. doi:10.1242/jcs.00495. PMID 12759374. 
  5. ^ Schmiesing JA, Ball AR, Gregson HC, Alderton JM, 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. 95 (22): 12906–11. doi:10.1073/pnas.95.22.12906. PMC 23650. PMID 9789013. 
  6. ^ Gregson HC, Schmiesing JA, Kim JS, Kobayashi T, Zhou S, Yokomori K (December 2001). "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. 

Further reading[edit]

External links[edit]