InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: SMC3

Summary

InnateDB Protein

IDBP-89418.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

SMC3

Protein Name

structural maintenance of chromosomes 3

Synonyms

BAM; BMH; CDLS3; CSPG6; HCAP; SMC3L1;

Species

Homo sapiens

Ensembl Protein

ENSP00000354720

InnateDB Gene

IDBG-89416 (SMC3)

Protein Structure

UniProt Annotation

Function

Central component of cohesin, a complex required for chromosome cohesion during the cell cycle. The cohesin complex may form a large proteinaceous ring within which sister chromatids can be trapped. At anaphase, the complex is cleaved and dissociates from chromatin, allowing sister chromatids to segregate. Cohesion is coupled to DNA replication and is involved in DNA repair. The cohesin complex plays also an important role in spindle pole assembly during mitosis and in chromosomes movement. {ECO:0000269PubMed:11076961, ECO:0000269PubMed:19907496}.

Subcellular Localization

Nucleus. Chromosome. Chromosome, centromere. Note=Associates with chromatin. Before prophase it is scattered along chromosome arms. During prophase, most of cohesin complexes dissociate from chromatin probably because of phosphorylation by PLK, except at centromeres, where cohesin complexes remain. At anaphase, the RAD21 subunit of the cohesin complex is cleaved, leading to the dissociation of the complex from chromosomes, allowing chromosome separation. The phosphorylated form at Ser- 1083 is preferentially associated with unsynapsed chromosomal regions (By similarity). {ECO:0000250}.

Disease Associations

Cornelia de Lange syndrome 3 (CDLS3) [MIM:610759]: A form of Cornelia de Lange syndrome, a clinically heterogeneous developmental disorder associated with malformations affecting multiple systems. Characterized by facial dysmorphisms, abnormal hands and feet, growth delay, cognitive retardation, hirsutism, gastroesophageal dysfunction and cardiac, ophthalmologic and genitourinary anomalies. Cornelia de Lange syndrome type 3 is a mild form with absence of major structural anomalies. The phenotype in some instances approaches that of apparently non- syndromic mental retardation. {ECO:0000269PubMed:17273969}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 129 experimentally validated interaction(s) in this database.
They are also associated with 20 interaction(s) predicted by orthology.

Experimentally validated
Total	129 [view]
Protein-Protein	125 [view]
Protein-DNA	4 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	20 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003682	chromatin binding
GO:0003777	microtubule motor activity
GO:0005515	protein binding
GO:0005524	ATP binding
GO:0036033	mediator complex binding
GO:0045502	dynein binding
GO:0046982	protein heterodimerization activity

Biological Process

GO:0000278	mitotic cell cycle
GO:0006275	regulation of DNA replication
GO:0006281	DNA repair
GO:0007052	mitotic spindle organization
GO:0007062	sister chromatid cohesion
GO:0007067	mitotic nuclear division
GO:0007126	meiotic nuclear division
GO:0007165	signal transduction
GO:0019827	stem cell maintenance
GO:0032876	negative regulation of DNA endoreduplication
GO:0051276	chromosome organization

Cellular Component

GO:0000775	chromosome, centromeric region
GO:0000785	chromatin
GO:0000800	lateral element
GO:0000922	spindle pole
GO:0005604	basement membrane
GO:0005634	nucleus
GO:0005654	nucleoplasm
GO:0005694	chromosome
GO:0005737	cytoplasm
GO:0005829	cytosol
GO:0008278	cohesin complex
GO:0016363	nuclear matrix
GO:0030893	meiotic cohesin complex
GO:0034991	nuclear meiotic cohesin complex