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CEP57 (centrosomal protein 57kDa)

Written2011-12Sandra Hanks, Katie Snape, Nazneen Rahman
Institute of Cancer Research, Division of Genetics, Epidemiology, Brookes Lawley Building, 15 Cotswold Road, Sutton, Surrey SM2 5NG, UK

(Note : for Links provided by Atlas : click)

Identity

Alias_namescentrosomal protein 57kDa
Alias_symbol (synonym)Translokin
TSP57
KIAA0092
Other aliasPIG8
HGNC (Hugo) CEP57
LocusID (NCBI) 9702
Atlas_Id 43008
Location 11q21  [Link to chromosome band 11q21]
Location_base_pair Starts at 95790461 and ends at 95832693 bp from pter ( according to hg19-Feb_2009)  [Mapping CEP57.png]
Fusion genes
(updated 2016)
CEP57 (11q21) / MTMR2 (11q21)MAML2 (11q21) / CEP57 (11q21)TIMP2 (17q25.3) / CEP57 (11q21)

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.

Protein

 
  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

Note
  
Entity Mosaic variegated aneuploidy syndrome (MVA)
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.
  

To be noted

Biallelic mutations in BUB1B have also been identified in individuals with MVA syndrome.

Bibliography

Clinical and genetic heterogeneity in patients with mosaic variegated aneuploidy: delineation of clinical subtypes.
Garcia-Castillo H, Vasquez-Velasquez AI, Rivera H, Barros-Nunez P.
Am J Med Genet A. 2008 Jul 1;146A(13):1687-95. (REVIEW)
PMID 18548531
 
Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B.
Hanks S, Coleman K, Reid S, Plaja A, Firth H, Fitzpatrick D, Kidd A, Mehes K, Nash R, Robin N, Shannon N, Tolmie J, Swansbury J, Irrthum A, Douglas J, Rahman N.
Nat Genet. 2004 Nov;36(11):1159-61. Epub 2004 Oct 10.
PMID 15475955
 
Mosaic variegated aneuploidy with growth hormone deficiency and congenital heart defects.
Lane AH, Aijaz N, Galvin-Parton P, Lanman J, Mangano R, Wilson TA.
Am J Med Genet. 2002 Jul 1;110(3):273-7.
PMID 12116237
 
Monoallelic BUB1B mutations and defective mitotic-spindle checkpoint in seven families with premature chromatid separation (PCS) syndrome.
Matsuura S, Matsumoto Y, Morishima K, Izumi H, Matsumoto H, Ito E, Tsutsui K, Kobayashi J, Tauchi H, Kajiwara Y, Hama S, Kurisu K, Tahara H, Oshimura M, Komatsu K, Ikeuchi T, Kajii T.
Am J Med Genet A. 2006 Feb 15;140(4):358-67.
PMID 16411201
 
Pivotal role of translokin/CEP57 in the unconventional secretion versus nuclear translocation of FGF2.
Meunier S, Navarro MG, Bossard C, Laurell H, Touriol C, Lacazette E, Prats H.
Traffic. 2009 Dec;10(12):1765-72. Epub 2009 Sep 14.
PMID 19804566
 
Cep57, a multidomain protein with unique microtubule and centrosomal localization domains.
Momotani K, Khromov AS, Miyake T, Stukenberg PT, Somlyo AV.
Biochem J. 2008 Jun 1;412(2):265-73.
PMID 18294141
 
Mutations in CEP57 cause mosaic variegated aneuploidy syndrome.
Snape K, Hanks S, Ruark E, Barros-Nunez P, Elliott A, Murray A, Lane AH, Shannon N, Callier P, Chitayat D, Clayton-Smith J, Fitzpatrick DR, Gisselsson D, Jacquemont S, Asakura-Hay K, Micale MA, Tolmie J, Turnpenny PD, Wright M, Douglas J, Rahman N.
Nat Genet. 2011 Jun;43(6):527-9. Epub 2011 May 8.
PMID 21552266
 

Citation

This paper should be referenced as such :
Hanks, S ; Snape, K ; Rahman, N
CEP57 (centrosomal protein 57kDa)
Atlas Genet Cytogenet Oncol Haematol. 2012;16(5):336-338.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/CEP57ID43008ch11q21.html


Other Cancer prone implicated (Data extracted from papers in the Atlas) [ 2 ]
  Mosaic variegated aneuploidy syndrome Variegated aneuploidy related to premature centromere division (PCD)


External links

Nomenclature
HGNC (Hugo)CEP57   30794
LRG (Locus Reference Genomic)LRG_526
Cards
AtlasCEP57ID43008ch11q21
Entrez_Gene (NCBI)CEP57  9702  centrosomal protein 57
AliasesMVA2; PIG8; TSP57
GeneCards (Weizmann)CEP57
Ensembl hg19 (Hinxton)ENSG00000166037 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000166037 [Gene_View]  chr11:95790461-95832693 [Contig_View]  CEP57 [Vega]
ICGC DataPortalENSG00000166037
TCGA cBioPortalCEP57
AceView (NCBI)CEP57
Genatlas (Paris)CEP57
WikiGenes9702
SOURCE (Princeton)CEP57
Genetics Home Reference (NIH)CEP57
Genomic and cartography
GoldenPath hg38 (UCSC)CEP57  -     chr11:95790461-95832693 +  11q21   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CEP57  -     11q21   [Description]    (hg19-Feb_2009)
EnsemblCEP57 - 11q21 [CytoView hg19]  CEP57 - 11q21 [CytoView hg38]
Mapping of homologs : NCBICEP57 [Mapview hg19]  CEP57 [Mapview hg38]
OMIM607951   614114   
Gene and transcription
Genbank (Entrez)AA730219 AK098647 AK125164 AK291245 AK293277
RefSeq transcript (Entrez)NM_001243776 NM_001243777 NM_014679
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CEP57
Cluster EST : UnigeneHs.101014 [ NCBI ]
CGAP (NCI)Hs.101014
Alternative Splicing GalleryENSG00000166037
Gene ExpressionCEP57 [ NCBI-GEO ]   CEP57 [ EBI - ARRAY_EXPRESS ]   CEP57 [ SEEK ]   CEP57 [ MEM ]
Gene Expression Viewer (FireBrowse)CEP57 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9702
GTEX Portal (Tissue expression)CEP57
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ86XR8   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ86XR8  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ86XR8
Splice isoforms : SwissVarQ86XR8
PhosPhoSitePlusQ86XR8
Domains : Interpro (EBI)Centrosomal_protein_57kDa    Cep57_CLD    Cep57_MT-bd_dom   
Domain families : Pfam (Sanger)Cep57_CLD (PF14073)    Cep57_MT_bd (PF06657)   
Domain families : Pfam (NCBI)pfam14073    pfam06657   
Conserved Domain (NCBI)CEP57
DMDM Disease mutations9702
Blocks (Seattle)CEP57
PDB (SRS)4L0R   
PDB (PDBSum)4L0R   
PDB (IMB)4L0R   
PDB (RSDB)4L0R   
Structural Biology KnowledgeBase4L0R   
SCOP (Structural Classification of Proteins)4L0R   
CATH (Classification of proteins structures)4L0R   
SuperfamilyQ86XR8
Human Protein AtlasENSG00000166037
Peptide AtlasQ86XR8
HPRD16261
IPIIPI00465200   IPI00005700   IPI00514128   IPI00943523   IPI01010606   IPI01015938   IPI01015568   IPI01013342   IPI01012935   IPI01013925   IPI01010955   
Protein Interaction databases
DIP (DOE-UCLA)Q86XR8
IntAct (EBI)Q86XR8
FunCoupENSG00000166037
BioGRIDCEP57
STRING (EMBL)CEP57
ZODIACCEP57
Ontologies - Pathways
QuickGOQ86XR8
Ontology : AmiGOprotein import into nucleus, translocation  protein import into nucleus, translocation  mitotic sister chromatid segregation  G2/M transition of mitotic cell cycle  protein binding  nucleus  Golgi apparatus  centrosome  cytosol  microtubule  spermatid development  microtubule binding  fibroblast growth factor receptor signaling pathway  fibroblast growth factor binding  microtubule anchoring  protein homodimerization activity  gamma-tubulin binding  protein homooligomerization  ciliary basal body docking  
Ontology : EGO-EBIprotein import into nucleus, translocation  protein import into nucleus, translocation  mitotic sister chromatid segregation  G2/M transition of mitotic cell cycle  protein binding  nucleus  Golgi apparatus  centrosome  cytosol  microtubule  spermatid development  microtubule binding  fibroblast growth factor receptor signaling pathway  fibroblast growth factor binding  microtubule anchoring  protein homodimerization activity  gamma-tubulin binding  protein homooligomerization  ciliary basal body docking  
REACTOMEQ86XR8 [protein]
REACTOME PathwaysR-HSA-8854518 [pathway]   
NDEx NetworkCEP57
Atlas of Cancer Signalling NetworkCEP57
Wikipedia pathwaysCEP57
Orthology - Evolution
OrthoDB9702
GeneTree (enSembl)ENSG00000166037
Phylogenetic Trees/Animal Genes : TreeFamCEP57
HOVERGENQ86XR8
HOGENOMQ86XR8
Homologs : HomoloGeneCEP57
Homology/Alignments : Family Browser (UCSC)CEP57
Gene fusions - Rearrangements
Fusion : MitelmanTIMP2/CEP57 [17q25.3/11q21]  [t(11;17)(q21;q25)]  
Fusion: TCGATIMP2 17q25.3 CEP57 11q21 PRAD
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCEP57 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CEP57
dbVarCEP57
ClinVarCEP57
1000_GenomesCEP57 
Exome Variant ServerCEP57
ExAC (Exome Aggregation Consortium)CEP57 (select the gene name)
Genetic variants : HAPMAP9702
Genomic Variants (DGV)CEP57 [DGVbeta]
DECIPHERCEP57 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCEP57 
Mutations
ICGC Data PortalCEP57 
TCGA Data PortalCEP57 
Broad Tumor PortalCEP57
OASIS PortalCEP57 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCEP57  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCEP57
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
BioMutasearch CEP57
DgiDB (Drug Gene Interaction Database)CEP57
DoCM (Curated mutations)CEP57 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CEP57 (select a term)
intoGenCEP57
NCG5 (London)CEP57
Cancer3DCEP57(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM607951    614114   
Orphanet1351   
MedgenCEP57
Genetic Testing Registry CEP57
NextProtQ86XR8 [Medical]
TSGene9702
GENETestsCEP57
Target ValidationCEP57
Huge Navigator CEP57 [HugePedia]
snp3D : Map Gene to Disease9702
BioCentury BCIQCEP57
ClinGenCEP57
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD9702
Chemical/Pharm GKB GenePA142672123
Clinical trialCEP57
Miscellaneous
canSAR (ICR)CEP57 (select the gene name)
Probes
Litterature
PubMed41 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCEP57
EVEXCEP57
GoPubMedCEP57
iHOPCEP57
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Aug 1 17:23:10 CEST 2017

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