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 ... See more...

Aliases for CEP57 Gene

Aliases for CEP57 Gene

  • Centrosomal Protein 57 2 3 5
  • Translokin 2 3 4
  • TSP57 2 3 4
  • Centrosomal Protein Of 57 KDa 3 4
  • Testis-Specific Protein 57 3 4
  • Centrosomal Protein 57kDa 2 3
  • FGF2-Interacting Protein 3 4
  • KIAA0092 2 4
  • Proliferation-Inducing Protein 8 3
  • CEP57 5
  • Cep57 4
  • MVA2 3
  • PIG8 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 57) is a Protein Coding gene. Diseases associated with CEP57 include Mosaic Variegated Aneuploidy Syndrome 2 and Mosaic Variegated Aneuploidy Syndrome. Among its related pathways are Regulation of PLK1 Activity at G2/M Transition and Organelle biogenesis and maintenance. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and microtubule binding. An important paralog of this gene is CEP57L1.

UniProtKB/Swiss-Prot Summary 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 CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CEP57 Gene

Genomics for CEP57 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CEP57 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CEP57 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CEP57

Top Transcription factor binding sites by QIAGEN in the CEP57 gene promoter:
  • CUTL1
  • HTF
  • IRF-2
  • Pax-5
  • POU2F1
  • POU2F1a
  • POU2F1b
  • POU2F1c
  • TBP
  • TFIID

Genomic Locations for CEP57 Gene

Latest Assembly
chr11:95,789,965-95,832,693
(GRCh38/hg38)
Size:
42,729 bases
Orientation:
Plus strand

Previous Assembly
chr11:95,523,662-95,565,857
(GRCh37/hg19 by Entrez Gene)
Size:
42,196 bases
Orientation:
Plus strand

chr11:95,523,129-95,565,857
(GRCh37/hg19 by Ensembl)
Size:
42,729 bases
Orientation:
Plus strand

Genomic View for CEP57 Gene

Genes around CEP57 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CEP57 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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=Extended N-terminus.; 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

Post-translational modifications for CEP57 Gene

  • Ubiquitination at Lys95, Lys106, Lys167, Lys230, Lys248, and Lys396
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for CEP57 Gene

Domains & Families for CEP57 Gene

Gene Families for CEP57 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for CEP57 Gene

Suggested Antigen Peptide Sequences for CEP57 Gene

GenScript: Design optimal peptide antigens:
  • Translokin (CEP57_HUMAN)

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

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.

Phenotypes From GWAS Catalog for CEP57 Gene

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 IEA,IBA 21873635
GO:0017134 fibroblast growth factor binding IPI 12717444
GO:0042802 identical protein binding IEA --
GO:0042803 protein homodimerization activity IPI 12717444
genes like me logo Genes that share ontologies with CEP57: view
genes like me logo Genes that share phenotypes with CEP57: view

Human Phenotype Ontology for CEP57 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CEP57

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CEP57 gene
Compartment Confidence
cytoskeleton 5
cytosol 5
golgi apparatus 5
nucleus 4
plasma membrane 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Microtubules (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CEP57 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus ISS 12954732
GO:0005737 cytoplasm IEA --
GO:0005794 Golgi apparatus IDA 10942595
GO:0005813 centrosome IBA,IDA 14654843
GO:0005815 microtubule organizing center IEA --
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:0000086 G2/M transition of mitotic cell cycle TAS --
GO:0007286 spermatid development ISS 12954732
GO:0008543 fibroblast growth factor receptor signaling pathway IPI 12717444
GO:0010389 regulation of G2/M transition of mitotic cell cycle TAS --
GO:0034453 microtubule anchoring IEA --
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

mRNA/cDNA for CEP57 Gene

4 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
16 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CEP57

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

Expression for CEP57 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for CEP57 Gene



Protein tissue co-expression partners for CEP57 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CEP57

SOURCE GeneReport for Unigene cluster for CEP57 Gene:

Hs.101014

mRNA Expression by UniProt/SwissProt for CEP57 Gene:

Q86XR8-CEP57_HUMAN
Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for CEP57 Gene

  • Blood(4.3)
  • Kidney(4.3)
  • Bone marrow(4.2)
  • Nervous system(3.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CEP57 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cheek
  • chin
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • hypothalamus
  • jaw
  • lip
  • mandible
  • maxilla
  • meninges
  • mouth
  • neck
  • nose
  • outer ear
  • pituitary gland
  • skull
  • thyroid
Thorax:
  • aorta
  • chest wall
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • sternum
Abdomen:
  • abdominal wall
  • intestine
  • kidney
  • large intestine
  • small intestine
Pelvis:
  • penis
  • placenta
  • testicle
  • urethra
  • uterus
  • vagina
  • vulva
General:
  • blood
  • blood vessel
  • bone marrow
  • coagulation system
  • lymph vessel
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • spinal cord
  • white blood cell
genes like me logo Genes that share expression patterns with CEP57: view

Primer products for research

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
Chimpanzee
(Pan troglodytes)
Mammalia CEP57 30 31
  • 99.73 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia CEP57 30 31
  • 90.65 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia CEP57 30 31
  • 89.67 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Cep57 30 17 31
  • 87.35 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Cep57 30
  • 85.54 (n)
Oppossum
(Monodelphis domestica)
Mammalia CEP57 31
  • 73 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia CEP57 31
  • 63 (a)
OneToOne
Chicken
(Gallus gallus)
Aves CEP57 30 31
  • 64.17 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia CEP57 31
  • 51 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia cep57 30
  • 58.62 (n)
Zebrafish
(Danio rerio)
Actinopterygii cep57 30
  • 53.02 (n)
CEP57 31
  • 44 (a)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.3538 31
  • 39 (a)
OneToMany
Species where no ortholog for CEP57 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for CEP57: view image

Paralogs for CEP57 Gene

Paralogs for CEP57 Gene

(2) SIMAP similar genes for CEP57 Gene using alignment to 10 proteins:

  • CEP57_HUMAN
  • F5GXS6_HUMAN
  • F5GYW0_HUMAN
  • F5GZ93_HUMAN
  • F5H0C6_HUMAN
  • F5H1B0_HUMAN
  • F5H6R3_HUMAN
  • F5H7J4_HUMAN
  • H0YFT8_HUMAN
  • H0YGT4_HUMAN

Pseudogenes.org Pseudogenes for CEP57 Gene

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

Variants for CEP57 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CEP57 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
834297 Uncertain Significance: Mosaic variegated aneuploidy syndrome 2 95,831,019(+) G/A
NM_014679.5(CEP57):c.1273-7G>A
INTRON
836256 Uncertain Significance: Mosaic variegated aneuploidy syndrome 2 95,790,737(+) C/G
NM_014679.5(CEP57):c.39C>G (p.His13Gln)
MISSENSE_VARIANT,FIVE_PRIME_UTR
837051 Uncertain Significance: Mosaic variegated aneuploidy syndrome 2 95,799,274(+) C/A
NM_014679.5(CEP57):c.88C>A (p.Arg30=)
SYNONYMOUS
839477 Uncertain Significance: Mosaic variegated aneuploidy syndrome 2 95,822,524(+) C/T
NM_014679.5(CEP57):c.833C>T (p.Ala278Val)
MISSENSE_VARIANT,INTRON
843213 Uncertain Significance: Mosaic variegated aneuploidy syndrome 2 95,799,356(+) C/G
NM_014679.5(CEP57):c.170C>G (p.Pro57Arg)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CEP57 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

Variant ID Type Subtype PubMed ID
esv2606020 CNV deletion 19546169
esv3579857 CNV loss 25503493
esv3627359 CNV loss 21293372
nsv832235 CNV gain 17160897

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)

Additional Variant Information for CEP57 Gene

Human Gene Mutation Database (HGMD)
CEP57
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CEP57

SNP Genotyping and Copy Number Assays for research

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

Disorders for CEP57 Gene

MalaCards: The human disease database

(15) MalaCards diseases for CEP57 Gene - From: OMI, CVR, GTR, ORP, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards
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 variants affecting the gene represented in this entry.

Additional Disease Information for CEP57

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

No data available for Genatlas for CEP57 Gene

Publications for CEP57 Gene

  1. Mutations in CEP57 cause mosaic variegated aneuploidy syndrome. (PMID: 21552266) Snape K … Rahman N (Nature genetics 2011) 3 4 74
  2. Translokin is an intracellular mediator of FGF-2 trafficking. (PMID: 12717444) Bossard C … Prats H (Nature cell biology 2003) 3 4 23
  3. Prediction of the coding sequences of unidentified human genes. III. The coding sequences of 40 new genes (KIAA0081-KIAA0120) deduced by analysis of cDNA clones from human cell line KG-1. (PMID: 7788527) Nagase T … Kotani H (DNA research : an international journal for rapid publication of reports on genes and genomes 1995) 2 3 4
  4. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 41
  5. Pivotal role of translokin/CEP57 in the unconventional secretion versus nuclear translocation of FGF2. (PMID: 19804566) Meunier S … Prats H (Traffic (Copenhagen, Denmark) 2009) 3 23

Products for CEP57 Gene

Sources for CEP57 Gene