SMC6

 Structural maintenance of chromosomes protein 6 is a protein that in humans is encoded by the SMC6 gene.^[5][6]

SMC6
Identifiers
Aliases	SMC6, SMC-6, SMC6L1, hstructural maintenance of chromosomes 6
External IDs	OMIM: 609387 MGI: 1914491 HomoloGene: 41575 GeneCards: SMC6
Gene location (Human) Chr. Chromosome 2 (human)[1] Band 2p24.2 Start 17,663,812 bp[1] End 17,800,242 bp[1]
Gene location (Mouse) Chr. Chromosome 12 (mouse)[2] Band 12|12 A1.1 Start 11,265,886 bp[2] End 11,319,785 bp[2]
RNA expression pattern More reference expression data
Gene ontology Molecular function • nucleotide binding • GO:0001948 protein binding • ATP binding • ubiquitin protein ligase binding Cellular component • site of double-strand break • PML body • sex chromosome • nuclear speck • Smc5-Smc6 complex • intracellular • nucleoplasm • chromosome • chromosome, telomeric region • interchromatin granule • cell nucleus Biological process • DNA recombination • cellular response to DNA damage stimulus • telomere maintenance via recombination • cellular senescence • positive regulation of chromosome segregation • double-strand break repair via homologous recombination • DNA repair Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	79677	67241
Ensembl	ENSG00000163029	ENSMUSG00000020608
UniProt	Q96SB8	Q924W5
RefSeq (mRNA)	NM_001142286 NM_024624	NM_025695 NM_001324476 NM_001361252
RefSeq (protein)	NP_001135758 NP_078900	NP_001311405 NP_079971 NP_001348181
Location (UCSC)	Chr 2: 17.66 – 17.8 Mb	Chr 12: 11.27 – 11.32 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

It is involved in the Alternative lengthening of telomeres cancer mechanism.^[7]

Role in recombination and meiosisEdit

Smc6 and Smc5 proteins form a heterodimeric ring-like structure and together with other non-SMC elements form the SMC-5/6 complex. In the worm Caenorhabditis elegans this complex interacts with the HIM-6(BLM) helicase to promote meiotic recombination intermediate processing and chromosome maturation.^[8] The SMC-5/6 complex in mouse oocytes is essential for the formation of segregation competent bivalents during meiosis.^[9] In the yeast Saccharomyces cerevisiae, SMC6 is necessary for resistance to DNA damage as well as for damage-induced interchromosomal and sister chromatid recombination.^[10] In humans, a chromosome breakage syndrome characterized by severe lung disease in early childhood is associated with a mutation in a component of the SMC-5/6 complex.^[11] Patient’s cells display chromosome rearrangements, micronuclei, sensitivity to DNA damage and defective homologous recombination.

This article uses material from the Wikipedia article  Metasyntactic variable, which is released under the  Creative Commons Attribution-ShareAlike 3.0 Unported License.