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Aliases for CEP57 Gene

Aliases for CEP57 Gene

  • Centrosomal Protein 57kDa 2 3
  • Testis-Specific Protein 57 3 4
  • FGF2-Interacting Protein 3 4
  • Translokin 3 4
  • TSP57 3 4
  • Proliferation-Inducing Protein 8 3
  • KIAA0092 4
  • Cep57 4
  • PIG8 3
  • MVA2 3

External Ids for CEP57 Gene

Previous GeneCards Identifiers for CEP57 Gene

  • GC11P095165
  • GC11P095523
  • GC11P091589

Summaries for CEP57 Gene

Entrez Gene Summary for CEP57 Gene

  • This gene encodes a cytoplasmic protein called Translokin. This protein localizes to the centrosome and has a function in microtubular stabilization. The N-terminal half of this protein is required for its centrosome localization and for its multimerization, and the C-terminal half is required for nucleating, bundling and anchoring microtubules to the centrosomes. This protein specifically interacts with fibroblast growth factor 2 (FGF2), sorting nexin 6, Ran-binding protein M and the kinesins KIF3A and KIF3B, and thus mediates the nuclear translocation and mitogenic activity of the FGF2. It also interacts with cyclin D1 and controls nucleocytoplasmic distribution of the cyclin D1 in quiescent cells. This protein is crucial for maintaining correct chromosomal number during cell division. Mutations in this gene cause mosaic variegated aneuploidy syndrome, a rare autosomal recessive disorder. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011]

GeneCards Summary for CEP57 Gene

CEP57 (Centrosomal Protein 57kDa) is a Protein Coding gene. Diseases associated with CEP57 include mosaic variegated aneuploidy syndrome and mosaic variegated aneuploidy syndrome 2. Among its related pathways are Regulation of PLK1 Activity at G2/M Transition and Organelle biogenesis and maintenance. GO annotations related to this gene include protein homodimerization activity and microtubule binding. An important paralog of this gene is CEP57L1.

UniProtKB/Swiss-Prot for CEP57 Gene

  • Centrosomal protein which may be required for microtubule attachment to centrosomes. May act by forming ring-like structures around microtubules. Mediates nuclear translocation and mitogenic activity of the internalized growth factor FGF2, but that of FGF1.

Gene Wiki entry for CEP57 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CEP57 Gene

Genomics for CEP57 Gene

Regulatory Elements for CEP57 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for CEP57 Gene

Chromosome:
11
Start:
95,789,965 bp from pter
End:
95,832,693 bp from pter
Size:
42,729 bases
Orientation:
Plus strand

Genomic View for CEP57 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CEP57 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CEP57 Gene

Proteins for CEP57 Gene

  • Protein details for CEP57 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q86XR8-CEP57_HUMAN
    Recommended name:
    Centrosomal protein of 57 kDa
    Protein Accession:
    Q86XR8
    Secondary Accessions:
    • A0PJH1
    • A8K5D0
    • B4DDP5
    • F5H5F7
    • Q14704
    • Q5JB46
    • Q8IXP0
    • Q9BVF9

    Protein attributes for CEP57 Gene

    Size:
    500 amino acids
    Molecular mass:
    57089 Da
    Quaternary structure:
    • Homodimer and homooligomer. Interacts with microtubules. Interacts with FGF2 and RAP80. Does not interact with FGF1 or FGF2 isoform 24 kDa.
    SequenceCaution:
    • Sequence=AAH29385.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=BAA07654.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for CEP57 Gene

    Alternative splice isoforms for CEP57 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CEP57 Gene

Proteomics data for CEP57 Gene at MOPED

Post-translational modifications for CEP57 Gene

  • Ubiquitination at Lys 95, Lys 106, Lys 167, Lys 230, Lys 248, and Lys 396
  • Modification sites at PhosphoSitePlus

Antibody Products

No data available for DME Specific Peptides for CEP57 Gene

Domains & Families for CEP57 Gene

Protein Domains for CEP57 Gene

Suggested Antigen Peptide Sequences for CEP57 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q86XR8

UniProtKB/Swiss-Prot:

CEP57_HUMAN :
  • The C-terminal region mediates the interaction with microtubules and is able to nucleate and bundles microtubules in vitro.
  • Belongs to the translokin family.
Domain:
  • The C-terminal region mediates the interaction with microtubules and is able to nucleate and bundles microtubules in vitro.
  • The centrosome localization domain (CLD) region mediates the localization to centrosomes and homooligomerization.
Family:
  • Belongs to the translokin family.
genes like me logo Genes that share domains with CEP57: view

No data available for Gene Families for CEP57 Gene

Function for CEP57 Gene

Molecular function for CEP57 Gene

UniProtKB/Swiss-Prot Function:
Centrosomal protein which may be required for microtubule attachment to centrosomes. May act by forming ring-like structures around microtubules. Mediates nuclear translocation and mitogenic activity of the internalized growth factor FGF2, but that of FGF1.

Gene Ontology (GO) - Molecular Function for CEP57 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 15607035
GO:0008017 microtubule binding IBA --
GO:0017134 fibroblast growth factor binding IPI 12717444
GO:0042802 identical protein binding --
GO:0042803 protein homodimerization activity IPI 12717444
genes like me logo Genes that share ontologies with CEP57: view

Phenotypes for CEP57 Gene

genes like me logo Genes that share phenotypes with CEP57: view

Animal Model Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CEP57

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for CEP57 Gene

Localization for CEP57 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CEP57 Gene

Nucleus. Cytoplasm. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CEP57 Gene COMPARTMENTS Subcellular localization image for CEP57 gene
Compartment Confidence
cytoskeleton 5
golgi apparatus 5
cytosol 4
nucleus 4

Gene Ontology (GO) - Cellular Components for CEP57 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus ISS 12954732
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA --
GO:0005794 Golgi apparatus IDA 10942595
GO:0005813 centrosome IDA 14654843
genes like me logo Genes that share ontologies with CEP57: view

Pathways & Interactions for CEP57 Gene

genes like me logo Genes that share pathways with CEP57: view

Gene Ontology (GO) - Biological Process for CEP57 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000060 protein import into nucleus, translocation ISS 12717444
GO:0000070 mitotic sister chromatid segregation IBA --
GO:0000086 G2/M transition of mitotic cell cycle TAS --
GO:0000278 mitotic cell cycle TAS --
GO:0006996 organelle organization TAS --
genes like me logo Genes that share ontologies with CEP57: view

No data available for SIGNOR curated interactions for CEP57 Gene

Drugs & Compounds for CEP57 Gene

No Compound Related Data Available

Transcripts for CEP57 Gene

Unigene Clusters for CEP57 Gene

Centrosomal protein 57kDa:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CEP57

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CEP57 Gene

ExUns: 1a · 1b · 1c · 1d · 1e · 1f ^ 2 ^ 3 ^ 4a · 4b · 4c · 4d ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9 ^ 10a · 10b ^ 11 ^ 12
SP1: - - - -
SP2: - - -
SP3: - - - - -
SP4: - - - - -
SP5: - - -
SP6: -
SP7: - -
SP8:

Relevant External Links for CEP57 Gene

GeneLoc Exon Structure for
CEP57
ECgene alternative splicing isoforms for
CEP57

Expression for CEP57 Gene

mRNA expression in normal human tissues for CEP57 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for CEP57 Gene

This gene is overexpressed in Cerebrospinal fluid (26.2), Peripheral blood mononuclear cells (25.3), and Monocytes (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for CEP57 Gene



SOURCE GeneReport for Unigene cluster for CEP57 Gene Hs.101014

mRNA Expression by UniProt/SwissProt for CEP57 Gene

Q86XR8-CEP57_HUMAN
Tissue specificity: Ubiquitous.
genes like me logo Genes that share expression patterns with CEP57: view

Protein tissue co-expression partners for CEP57 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for CEP57 Gene

Orthologs for CEP57 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CEP57 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia CEP57 35
  • 90.65 (n)
  • 91.38 (a)
CEP57 36
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CEP57 35
  • 89.67 (n)
  • 90.2 (a)
CEP57 36
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cep57 35
  • 87.35 (n)
  • 88.25 (a)
Cep57 16
Cep57 36
  • 87 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CEP57 35
  • 99.73 (n)
  • 99.8 (a)
CEP57 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cep57 35
  • 85.54 (n)
  • 85.12 (a)
oppossum
(Monodelphis domestica)
Mammalia CEP57 36
  • 73 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CEP57 36
  • 63 (a)
OneToOne
chicken
(Gallus gallus)
Aves CEP57 35
  • 64.17 (n)
  • 62.82 (a)
CEP57 36
  • 61 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CEP57 36
  • 51 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cep57 35
  • 58.62 (n)
  • 55.51 (a)
zebrafish
(Danio rerio)
Actinopterygii cep57 35
  • 53.02 (n)
  • 47.39 (a)
CEP57 36
  • 44 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3538 36
  • 39 (a)
OneToMany
Species with no ortholog for CEP57:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CEP57 Gene

ENSEMBL:
Gene Tree for CEP57 (if available)
TreeFam:
Gene Tree for CEP57 (if available)

Paralogs for CEP57 Gene

Paralogs for CEP57 Gene

Pseudogenes.org Pseudogenes for CEP57 Gene

genes like me logo Genes that share paralogs with CEP57: view

Variants for CEP57 Gene

Sequence variations from dbSNP and Humsavar for CEP57 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type MAF
rs139110744 -- 95,799,281(+) GCATT(C/T)TTCAT reference, missense
rs138900325 -- 95,811,437(+) GGTTG(C/G)GGGGA intron-variant
rs138387942 -- 95,819,872(+) TCCTT(C/G)TCAAA intron-variant
rs138276490 -- 95,815,979(+) CTTTC(A/T)CTTTT intron-variant
rs138233304 -- 95,811,204(+) GACTG(C/G)ATTAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CEP57 Gene

Variant ID Type Subtype PubMed ID
nsv832235 CNV Gain 17160897
esv2606020 CNV Deletion 19546169

Variation tolerance for CEP57 Gene

Residual Variation Intolerance Score: 27.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.61; 82.67% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CEP57 Gene

HapMap Linkage Disequilibrium report
CEP57
Human Gene Mutation Database (HGMD)
CEP57

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CEP57 Gene

Disorders for CEP57 Gene

MalaCards: The human disease database

(4) MalaCards diseases for CEP57 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
mosaic variegated aneuploidy syndrome
  • mva syndrome
mosaic variegated aneuploidy syndrome 2
  • mva2
mitral valve stenosis
  • mitral stenosis
mitral valve insufficiency
  • congenital insufficiency of mitral valve
- elite association
Search CEP57 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CEP57_HUMAN
  • Mosaic variegated aneuploidy syndrome 2 (MVA2) [MIM:614114]: A severe developmental disorder characterized 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. The risk of malignancy is high, with rhabdomyosarcoma, Wilms tumor and leukemia reported in several cases. {ECO:0000269 PubMed:21552266}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for CEP57

Genetic Association Database (GAD)
CEP57
Human Genome Epidemiology (HuGE) Navigator
CEP57
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CEP57
genes like me logo Genes that share disorders with CEP57: view

No data available for Genatlas for CEP57 Gene

Publications for CEP57 Gene

  1. Pivotal role of translokin/CEP57 in the unconventional secretion versus nuclear translocation of FGF2. (PMID: 19804566) Meunier S. … Prats H. (Traffic 2009) 23 67
  2. Cep57, a multidomain protein with unique microtubule and centrosomal localization domains. (PMID: 18294141) Momotani K. … Somlyo A.V. (Biochem. J. 2008) 23 67
  3. Tsp57: a novel gene induced during a specific stage of spermatogenesis. (PMID: 12954732) Kim Y.S. … Jetten A.M. (Biol. Reprod. 2004) 23 67
  4. Systematic identification of hepatocellular proteins interacting with NS5A of the hepatitis C virus. (PMID: 15607035) Ahn J. … Hoe K.-L. (J. Biochem. Mol. Biol. 2004) 23 67
  5. Translokin is an intracellular mediator of FGF-2 trafficking. (PMID: 12717444) Bossard C. … Prats H. (Nat. Cell Biol. 2003) 23 67

Products for CEP57 Gene

Sources for CEP57 Gene

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