CEP57 (centrosomal protein 57kDa)
2011-12-01 Sandra Hanks , Katie Snape , Nazneen Rahman AffiliationInstitute of Cancer Research, Division of Genetics, Epidemiology, Brookes Lawley Building, 15 Cotswold Road, Sutton, Surrey SM2 5NG, UK
Identity
HGNC
LOCATION
11q21
LOCUSID
ALIAS
MVA2,PIG8,TSP57
FUSION GENES
DNA/RNA
Figure 1. Schematic representation of CEP57 demonstrating the relative exon sizes.
Description
CEP57 spans over 42 kb and is composed of 11 exons.
Proteins
Figure 2. Schematic representation of CEP57 demonstrating significant functional or structural domains.
Description
500 amino acids, 57 kDa.
Expression
Ubiquituously expressed.
Localisation
Nucleus, cytoplasm, cytoskeleton, centrosome.
Function
Centrosomal protein required for microtubule attachment to centrosomes. Also involved in intracellular bidirectional trafficking of factors such as FGF2 along microtubules.
Homology
The CEP57 gene is conserved in chimpanzee, dog, cow, mouse, rat, chicken, and zebrafish.
Mutations
Figure 3. Schematic representation of CEP57 demonstrating the relative exon sizes and positions of known mutations. Biallelic mutations are represented by coloured lines, with mutations in the same individual in matching colours.
Germinal
Biallelic, loss-of-function mutations in CEP57 have been found in three MVA pedigrees (figure 3).
Implicated in
Entity name
Note
MVA is a rare recessive condition characterised by mosaic aneuploidies, predominantly trisomies and monosomies, involving multiple different chromosomes and tissues. Affected individuals typically present with severe intrauterine growth retardation and microcephaly. Eye anomalies, mild dysmorphism, variable developmental delay and a broad spectrum of additional congenital abnormalities and medical conditions may also occur.
Prognosis
The prognosis for an individual with MVA syndrome is based on the malformations present in the individual. There is early mortality in a significant proportion of cases due to failure to thrive and/or complications of congenital abnormalities, epilepsy, infections or malignancy.
Cytogenetics
MVA is characterised by mosaic aneuploidies, predominantly trisomies and monosomies, involving multiple different chromosomes and tissues. The proportion of aneuploid cells varies but is usually >10% and is substantially greater than in normal individuals. Some patients with MVA also demonstrate premature chromatid separation in colchicine-treated blood lymphocyte and fibroblast cultures.
Oncogenesis
The risk of malignancy in MVA is high with Wilms tumour, rhabdomyosarcoma, leukaemia and granulosa cell tumour of the ovary reported in several cases. Myelodysplastic syndrome has also been observed.
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 18548531 | 2008 | Clinical and genetic heterogeneity in patients with mosaic variegated aneuploidy: delineation of clinical subtypes. | García-Castillo H et al |
| 15475955 | 2004 | Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B. | Hanks S et al |
| 12116237 | 2002 | Mosaic variegated aneuploidy with growth hormone deficiency and congenital heart defects. | Lane AH et al |
| 16411201 | 2006 | Monoallelic BUB1B mutations and defective mitotic-spindle checkpoint in seven families with premature chromatid separation (PCS) syndrome. | Matsuura S et al |
| 19804566 | 2009 | Pivotal role of translokin/CEP57 in the unconventional secretion versus nuclear translocation of FGF2. | Meunier S et al |
| 18294141 | 2008 | Cep57, a multidomain protein with unique microtubule and centrosomal localization domains. | Momotani K et al |
| 21552266 | 2011 | Mutations in CEP57 cause mosaic variegated aneuploidy syndrome. | Snape K et al |
Other Information
Locus ID:
NCBI: 9702
MIM: 607951
HGNC: 30794
Ensembl: ENSG00000166037
Variants:
dbSNP: 9702
ClinVar: 9702
TCGA: ENSG00000166037
COSMIC: CEP57
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36635612 | 2023 | Mosaic variegated aneuploidy syndrome 2 with biallelic novel CEP57 splice site variation in Indian siblings: Expanding the clinical and molecular spectrum. | 0 |
| 36635612 | 2023 | Mosaic variegated aneuploidy syndrome 2 with biallelic novel CEP57 splice site variation in Indian siblings: Expanding the clinical and molecular spectrum. | 0 |
| 33492359 | 2021 | Cep57 and Cep57L1 maintain centriole engagement in interphase to ensure centriole duplication cycle. | 8 |
| 34500087 | 2021 | Mosaic Variegated Aneuploidy syndrome 2 caused by biallelic variants in CEP57, two new cases and review of the phenotype. | 3 |
| 33492359 | 2021 | Cep57 and Cep57L1 maintain centriole engagement in interphase to ensure centriole duplication cycle. | 8 |
| 34500087 | 2021 | Mosaic Variegated Aneuploidy syndrome 2 caused by biallelic variants in CEP57, two new cases and review of the phenotype. | 3 |
| 32152252 | 2020 | Requirement of the Cep57-Cep63 Interaction for Proper Cep152 Recruitment and Centriole Duplication. | 15 |
| 32861809 | 2020 | Follow-up of two adult brothers with homozygous CEP57 pathogenic variants expands the phenotype of Mosaic Variegated Aneuploidy Syndrome. | 4 |
| 32152252 | 2020 | Requirement of the Cep57-Cep63 Interaction for Proper Cep152 Recruitment and Centriole Duplication. | 15 |
| 32861809 | 2020 | Follow-up of two adult brothers with homozygous CEP57 pathogenic variants expands the phenotype of Mosaic Variegated Aneuploidy Syndrome. | 4 |
| 30804344 | 2019 | The Cep57-pericentrin module organizes PCM expansion and centriole engagement. | 30 |
| 30804344 | 2019 | The Cep57-pericentrin module organizes PCM expansion and centriole engagement. | 30 |
| 26743940 | 2016 | Cep57 is a Mis12-interacting kinetochore protein involved in kinetochore targeting of Mad1-Mad2. | 14 |
| 26743940 | 2016 | Cep57 is a Mis12-interacting kinetochore protein involved in kinetochore targeting of Mad1-Mad2. | 14 |
| 26561035 | 2015 | Copy number variation in CEP57L1 predisposes to congenital absence of bilateral ACL and PCL ligaments. | 5 |
Citation
Sandra Hanks ; Katie Snape ; Nazneen Rahman
CEP57 (centrosomal protein 57kDa)
Atlas Genet Cytogenet Oncol Haematol. 2011-12-01
Online version: http://atlasgeneticsoncology.org/gene/43008/cep57-(centrosomal-protein-57kda)
