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Gene Symbol |
SMC3 |
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Aliases |
BAM, BMH, CDLS3, CSPG6, HCAP, SMC3L1 |
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Entrez Gene ID |
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Gene Name |
Structural maintenance of chromosomes 3 |
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Chromosomal Location |
10q25.2 |
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HGNC ID |
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Summary |
This gene belongs to the SMC3 subfamily of SMC proteins. The encoded protein occurs in certain cell types as either an intracellular, nuclear protein or a secreted protein. The nuclear form, known as structural maintenance of chromosomes 3, is a component of the multimeric cohesin complex that holds together sister chromatids during mitosis, enabling proper chromosome segregation. Post-translational modification of the encoded protein by the addition of chondroitin sulfate chains gives rise to the secreted proteoglycan bamacan, an abundant basement membrane protein. [provided by RefSeq, Jul 2008]
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RefSeq DNA |
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RefSeq mRNA |
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e!Ensembl
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Gene Ontology (GO)
| GO ID |
Ontology |
Function |
Evidence |
Reference |
| GO:0000278 |
Biological process |
Mitotic cell cycle |
TAS |
9506951 |
| GO:0006275 |
Biological process |
Regulation of DNA replication |
IMP |
19907496 |
| GO:0007062 |
Biological process |
Sister chromatid cohesion |
IMP |
15917200 |
| GO:0007062 |
Biological process |
Sister chromatid cohesion |
NAS |
11590136 |
| GO:0032876 |
Biological process |
Negative regulation of DNA endoreduplication |
IMP |
15917200 |
| GO:0044791 |
Biological process |
Positive regulation by host of viral release from host cell |
IDA |
19444697 |
| GO:0051321 |
Biological process |
Meiotic cell cycle |
IDA |
12498344 |
| GO:0051702 |
Biological process |
Interaction with symbiont |
IDA |
19444697 |
| GO:1901673 |
Biological process |
Regulation of mitotic spindle assembly |
IMP |
11590136 |
| GO:0000785 |
Cellular component |
Chromatin |
IDA |
16682347, 19907496 |
| GO:0005604 |
Cellular component |
Basement membrane |
TAS |
8621634 |
| GO:0005634 |
Cellular component |
Nucleus |
TAS |
9506951 |
| GO:0008278 |
Cellular component |
Cohesin complex |
IDA |
11590136, 22628566 |
| GO:0008278 |
Cellular component |
Cohesin complex |
NAS |
9506951 |
| GO:0016363 |
Cellular component |
Nuclear matrix |
IDA |
11590136 |
| GO:0030893 |
Cellular component |
Meiotic cohesin complex |
IDA |
21242291 |
| GO:0097431 |
Cellular component |
Mitotic spindle pole |
IDA |
11590136 |
| GO:0003777 |
Molecular function |
Microtubule motor activity |
NAS |
11590136 |
| GO:0005515 |
Molecular function |
Protein binding |
IPI |
9506951, 11590136, 11983169, 15656913, 15737063, 15837422, 15855230, 16682347, 16802858, 17105772, 17112726, 17113138, 17349791, 17962804, 18235444, 18832153, 19444697, 19629043, 19907496, 20818333, 22293751, 22540012, 22628566, 22885700, 23242214, 24299456, 26496610, 30021884 |
| GO:0046982 |
Molecular function |
Protein heterodimerization activity |
IPI |
11590136 |
| GO:0048487 |
Molecular function |
Beta-tubulin binding |
IDA |
11590136 |
| GO:0070840 |
Molecular function |
Dynein complex binding |
IDA |
11590136 |
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| Protein Information |
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Protein Name |
Structural maintenance of chromosomes protein 3, SMC protein 3, basement membrane-associated chondroitin proteoglycan, chondroitin sulfate proteoglycan 6 (bamacan), chromosome-associated polypeptide |
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Function |
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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. |
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UniProt |
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Interactions |
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| STRING |
MINT |
IntAct |
| ENSP00000353731 |
P27487 |
P27487 |
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View interactions
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Associated Diseases
| Disease group | Disease Name | References |
| Blood Disorders |
| Anemia |
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| Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| Cornelia de Lange syndrome |
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| Microcephaly |
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| Wiedemann-Steiner syndrome |
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| Endocrine System Diseases |
| PCOS |
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| Musculoskeletal Diseases |
| Radial Club Hand |
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| Neoplasms |
| Leukemia |
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| Myeloid Leukemia |
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| Psychiatric/Brain disorders |
| Intellectual Disability |
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| Neurodevelopmental Disorders |
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References |
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| Shim Unjin, Kim Han-Na, Lee Hyejin, Oh Jee-Young, Sung Yeon-Ah, Kim Hyung-Lae |
| Department of Internal Medicine, Seoul Seonam Hospital, Ewha Womans University Medical Center, Seoul, Korea.| Department of Biochemistry, Ewha Womans University School of Medicine, Seoul, Korea.| Department of Internal Medicine, Ewha Womans University School of Medicine, Seoul, Korea.| Department of Internal Medicine, Ewha Womans University School of Medicine, Seoul, Korea.| Department of Internal Medicine, Ewha Womans University School of Medicine, Seoul, Korea.| Department of Biochemistry, Ewha Womans University School of Medicine, Seoul, Korea. |
| PLoS One. 2015 Aug 26;10(8):e0136609. doi: 10.1371/journal.pone.0136609. |
Abstract
BACKGROUND: Polycystic ovary syndrome (PCOS) is one of the most common endocrine disorders in women of reproductive age, and it is affected by both environmental and genetic factors. Although the genetic component of PCOS is evident, studies aiming to identify susceptibility genes have shown controversial results. This study conducted a pathway-based analysis using a dataset obtained through a genome-wide association study (GWAS) to elucidate the biological pathways that contribute to PCOS susceptibility and the associated genes. METHODS: We used GWAS data on 636,797 autosomal single nucleotide polymorphisms (SNPs) from 1,221 individuals (432 PCOS patients and 789 controls) for analysis. A pathway analysis was conducted using meta-analysis gene-set enrichment of variant associations (MAGENTA). Top-ranking pathways or gene sets associated with PCOS were identified, and significant genes within the pathways were analyzed. RESULTS: The pathway analysis of the GWAS dataset identified significant pathways related to oocyte meiosis and the regulation of insulin secretion by acetylcholine and free fatty acids (all nominal gene-set enrichment analysis (GSEA) P-values < 0.05). In addition, INS, GNAQ, STXBP1, PLCB3, PLCB2, SMC3 and PLCZ1 were significant genes observed within the biological pathways (all gene P-values < 0.05). CONCLUSIONS: By applying MAGENTA pathway analysis to PCOS GWAS data, we identified significant pathways and candidate genes involved in PCOS. Our findings may provide new leads for understanding the mechanisms underlying the development of PCOS. |
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| © 2019, Biomedical Informatics Centre, NIRRH |
National Institute for Research in Reproductive Health, Jehangir Merwanji Street, Parel, Mumbai-400 012
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