SMC3
Available structures PDB Ortholog search:PDBeRCSB List of PDB id codes 2WD5
Identifiers
Aliases	SMC3, BAM, BMH, CDLS3, CSPG6, HCAP, SMC3L1, structural maintenance of chromosomes 3
External IDs	OMIM:606062;MGI:1339795;HomoloGene:3974;GeneCards:SMC3;OMA:SMC3 - orthologs
Gene location (Human) Chr. Chromosome 10 (human)[1] Band 10q25.2 Start 110,567,684bp[1] End 110,606,048bp[1]
Gene location (Mouse) Chr. Chromosome 19 (mouse)[2] Band 19|19 D2 Start 53,588,829bp[2] End 53,634,264bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in tendon of biceps brachii ventricular zone oocyte testicle gonad ganglionic eminence internal globus pallidus Achilles tendon secondary oocyte superior surface of tongue Top expressed in genital tubercle tail of embryo fetal liver hematopoietic progenitor cell ventricular zone mandibular prominence maxillary prominence epiblast hand secondary oocyte somite More reference expression data BioGPS More reference expression data
Gene ontology Molecular function microtubule motor activity nucleotide binding mediator complex binding chromatin binding protein binding protein heterodimerization activity ATP binding dynein complex binding beta-tubulin binding protein-containing complex binding Cellular component cytosol meiotic cohesin complex nuclear matrix chromosome nucleoplasm lateral element chromatin chromosome, centromeric region nucleus basement membrane intracellular anatomical structure cohesin complex mitotic spindle pole Biological process regulation of DNA replication chromosome organization cellular response to DNA damage stimulus stem cell population maintenance cell division negative regulation of DNA endoreduplication cell cycle DNA repair sister chromatid cohesion mitotic cell cycle meiosis regulation of mitotic spindle assembly Sources:Amigo /QuickGO
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: 110.57 – 110.61 Mb Chr 19: 53.59 – 53.63 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Structural maintenance of chromosomes protein 3 (SMC3) is aprotein that in humans is encoded by theSMC3gene.^[5] SMC3 is a subunit of theCohesin complex which mediatessister chromatid cohesion, homologous recombination andDNA looping. Cohesin is formed of SMC3,SMC1,RAD21 and eitherSA1 orSA2. In humans, SMC3 is present in all cohesin complexes whereas there are multipleparalogs for the other subunits.

SMC3 is a member of theSMC protein family. Members of this family are key regulators of DNA repair, chromosome condensation and chromosome segregation.

The domain organisation of SMC proteins is evolutionarily conserved and is composed of an N-terminalWalker A motif, coiled-coil, "hinge", coiled-coil and a C-terminalWalker B motif. The protein folds back on itself to form a rod-shaped molecule with a heterodimerisation "hinge" domain at one end and anABC-type ATPase "head" at the other. These globular domains are separated by a ~50 nm anti-parallel coiled-coil. SMC3 and SMC1 bind via their hinge domains creating V-shaped heterodimers. The N-terminal domain of RAD21 binds to the coiled coil of SMC3 just above the head domain while the C-terminal domain of RAD21 binds the head domain of SMC1. This end to end binding of the SMC3-SMC1-RAD21 trimer creates a closed ring within which DNA can be entrapped. SA1 or

When DNA is replicated and sister chromatid cohesion is established SMC3 is acetylated on a pair of highly conserved lysines byESCO1 andESCO2. In budding yeast this modification is sufficient to stabilise cohesin on the DNA until mitosis but in animals, binding of sororin is also required.

Duringmeiosis, SMC3 forms cohesin complexes withSMC1ß,STAG3 andREC8 which generate cohesion between homologous chromosomes and sister chromatids.^[6]

Cornelia de Lange syndrome (CdLS) is a rare genetic disorder that presents with variable clinical abnormalities includingdysmorphic features, severe growth retardation,global developmental delay, andintellectual disability. SMC3 is one of five genes that have been implicated in CdLS.^[7] In one case report, a novel SMC3 gene duplication was detected in a child withfailure to thrive,hypotonia and facialdysmorphic features of CdLS.^[7] The same duplication was also observed in the mother, who had milder dysmorphic facies.

SMC3 occurs in certain cell types as a secreted protein and post-translational addition ofchondroitin sulfate chains gives rise to the secretedproteoglycanbamacan, an abundantbasement membrane protein.^[5]

• GeneReviews/NCBI/UW/NIH entry on Cornelia de Lange syndrome
• FactorBookSMC3

• Genes on human chromosome 10
• Human proteins
• Genes mutated in mice

• Articles with short description
• Short description is different from Wikidata