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CEP57 Gene

protein-coding   GIFtS: 58
GCID: GC11P095523

Centrosomal Protein 57kDa

  See CEP57-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Centrosomal Protein 57kDa1 2     KIAA00923 5
TSP572 3 5     Centrosomal Protein Of 57 KDa2
Testis-Specific Protein 572 3     Proliferation-Inducing Protein 82
FGF2-Interacting Protein2 3     translokin2
MVA22 5     Cep573
PIG82 5     Translokin3

External Ids:    HGNC: 307941   Entrez Gene: 97022   Ensembl: ENSG000001660377   OMIM: 6079515   UniProtKB: Q86XR83   

Export aliases for CEP57 gene to outside databases

Previous GC identifers: GC11P095165 GC11P091589


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. GO annotations related to this gene include fibroblast growth factor binding and protein homodimerization activity. An important paralog of this gene is CEP57L1.

UniProtKB/Swiss-Prot: CEP57_HUMAN, Q86XR8
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 Wiki entry for CEP57 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000011.9  NT_033899.9  NC_018922.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the CEP57 gene promoter:
         TBP   Pax-5   HTF   CUTL1   IRF-2   POU2F1   POU2F1b   TFIID   POU2F1a   POU2F1c   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCEP57 promoter sequence
   Search Chromatin IP Primers for CEP57

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CEP57


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 11q21   Ensembl cytogenetic band:  11q21   HGNC cytogenetic band: 11q21

CEP57 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CEP57 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11P095523:  view genomic region     (about GC identifiers)

Start:
95,523,129 bp from pter      End:
95,565,857 bp from pter
Size:
42,729 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: CEP57_HUMAN, Q86XR8 (See protein sequence)
Recommended Name: Centrosomal protein of 57 kDa  
Size: 500 amino acids; 57089 Da
Subunit: Homodimer and homooligomer. Interacts with microtubules. Interacts with FGF2 and RAP80. Does not interact
with FGF1 or FGF2 isoform 24 kDa
Sequence caution: Sequence=AAH29385.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential
poly-A sequence; Sequence=BAA07654.2; Type=Erroneous initiation; Note=Translation N-terminally shortened;
1 PDB 3D structure from and Proteopedia for CEP57:
4L0R (3D)    
Secondary accessions: A0PJH1 A8K5D0 B4DDP5 F5H5F7 Q14704 Q5JB46 Q8IXP0 Q9BVF9
Alternative splicing: 5 isoforms:  Q86XR8-1   Q86XR8-2   Q86XR8-3   Q86XR8-4   Q86XR8-5   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for CEP57: NX_Q86XR8

Explore proteomics data for CEP57 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys95, Lys106, Lys167, Lys230, Lys248, Lys396
  • Modification sites at PhosphoSitePlus

  • See CEP57 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001230705.1  NP_001230706.1  NP_055494.2  

    ENSEMBL proteins: 
     ENSP00000441392   ENSP00000317902   ENSP00000443866   ENSP00000438065   ENSP00000437422  
     ENSP00000445821   ENSP00000442481   ENSP00000440996   ENSP00000445706   ENSP00000444749  
     ENSP00000440256   ENSP00000317487   ENSP00000443436  
    Reactome Protein details: Q86XR8

    CEP57 Human Recombinant Protein Products:

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    Novus Biologicals CEP57 Lysates
    Sino Biological Recombinant Protein for CEP57
    Browse Sino Biological Cell Lysates
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    Cloud-Clone Corp. Proteins for CEP57

     
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    Search eBioscience for ELISAs for CEP57 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    3 InterPro protein domains:
     IPR024957 Cep57_MT-bd_dom
     IPR025913 Cep57_CLD
     IPR010597 Centrosomal_protein_57kDa

    Graphical View of Domain Structure for InterPro Entry Q86XR8

    ProtoNet protein and cluster: Q86XR8

    UniProtKB/Swiss-Prot: CEP57_HUMAN, Q86XR8
    Domain: The C-terminal region mediates the interaction with microtubules and is able to nucleate and bundles
    microtubules in vitro (By similarity)
    Domain: The centrosome localization domain (CLD) region mediates the localization to centrosomes and
    homooligomerization (By similarity)
    Similarity: Belongs to the translokin family


    Find genes that share domains with CEP57           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CEP57_HUMAN, Q86XR8
    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): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI--
    GO:0008017microtubule binding IEA--
    GO:0017134fibroblast growth factor binding IPI12717444
    GO:0042802identical protein binding ----
    GO:0042803protein homodimerization activity IPI12717444
         
    Find genes that share ontologies with CEP57           About GenesLikeMe


    Animal Models:
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    miRNA
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    miRTarBase miRNAs that target CEP57:
    hsa-mir-421 (MIRT039373)

    Block miRNA regulation of human, mouse, rat CEP57 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate CEP57 (see all 33):
    hsa-miR-498 hsa-miR-520d-5p hsa-miR-631 hsa-miR-106a hsa-let-7a-2* hsa-miR-340 hsa-miR-519a hsa-miR-3661
    SwitchGear 3'UTR luciferase reporter plasmidCEP57 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat CEP57

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    GenScript: all cDNA clones in your preferred vector: CEP57 (NM_014679)
    Sino Biological Human cDNA Clone for CEP57
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CEP57

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CEP57


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    CEP57_HUMAN, Q86XR8: Nucleus (By similarity). Cytoplasm. Cytoplasm, cytoskeleton, microtubule organizing center,
    centrosome
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    golgi apparatus5
    cytosol4
    nucleus3
    mitochondrion2

    Gene Ontology (GO): Selected cellular component terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus ISS12954732
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--
    GO:0005794Golgi apparatus IDA10942595
    GO:0005813centrosome IDA14654843

    Find genes that share ontologies with CEP57           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for CEP57 About    
    See pathways by source

    SuperPathContained pathways About
    1Regulation of PLK1 Activity at G2/M Transition
    Recruitment of mitotic centrosome proteins and complexes0.86
    Regulation of PLK1 Activity at G2/M Transition0.77
    Loss of Nlp from mitotic centrosomes0.86
    G2/M Transition0.70
    Centrosome maturation0.86
    Mitotic G2-G2/M phases0.69
    Loss of proteins required for interphase microtubule organizationfrom the centrosome0.86
    2Cell Cycle, Mitotic
    Cell Cycle, Mitotic0.90
    Cell Cycle0.90


    Find genes that share SuperPaths with CEP57           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    4 Reactome Pathways for CEP57
        Recruitment of mitotic centrosome proteins and complexes
    Loss of proteins required for interphase microtubule organization,from the centrosome
    Regulation of PLK1 Activity at G2/M Transition
    Loss of Nlp from mitotic centrosomes


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for CEP57
    Interactions:

        Search GeneGlobe Interaction Network for CEP57

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for CEP57 (Q86XR81, 3 ENSP000003179024) via UniProtKB, MINT, STRING, and/or I2D (see all 62)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MYCP011061, 3EBI-308614,EBI-447544 I2D: score=1 
    FGF2P090383, ENSP000002644984I2D: score=1 STRING: ENSP00000264498
    UIMC1Q96RL13, ENSP000003664344I2D: score=1 STRING: ENSP00000366434
    MEGF10Q96KG73, ENSP000002744734I2D: score=2 STRING: ENSP00000274473
    GCC1Q96CN93I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000060protein import into nucleus, translocation ISS12717444
    GO:0000086G2/M transition of mitotic cell cycle TAS--
    GO:0000278mitotic cell cycle TAS--
    GO:0007286spermatid development ISS12954732
    GO:0008543fibroblast growth factor receptor signaling pathway IPI12717444

    Find genes that share ontologies with CEP57           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for CEP57



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for CEP57 gene (3 alternative transcripts): 
    NM_001243776.1  NM_001243777.1  NM_014679.4  

    Unigene Cluster for CEP57:

    Centrosomal protein 57kDa
    Hs.101014  [show with all ESTs]
    Unigene Representative Sequence: NM_001243776
    16 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000537677 ENST00000325542(uc009ywn.2 uc010ruh.2 uc001pfp.2 uc001pfq.2 uc001pfr.2)
    ENST00000538095 ENST00000544522 ENST00000539855 ENST00000541365 ENST00000535497
    ENST00000540830 ENST00000538658(uc001pfo.2) ENST00000536587 ENST00000541768
    ENST00000537093 ENST00000535224 ENST00000538158 ENST00000325486 ENST00000541150

    miRNA
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    Block miRNA regulation of human, mouse, rat CEP57 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate CEP57 (see all 33):
    hsa-miR-498 hsa-miR-520d-5p hsa-miR-631 hsa-miR-106a hsa-let-7a-2* hsa-miR-340 hsa-miR-519a hsa-miR-3661
    SwitchGear 3'UTR luciferase reporter plasmidCEP57 3' UTR sequence
    Inhib. RNA
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    Clone
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: CEP57 (NM_014679)
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    Primer
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    OriGene qPCR primer pairs and template standards for CEP57
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      QuantiFast Probe-based Assays in human, mouse, rat CEP57

    Additional mRNA sequence: 

    AK098647.1 AK291245.1 AK293277.1 AY225092.1 AY239292.1 BC001233.2 BC009053.1 BC029385.1 
    BC031048.1 BC039711.1 D42054.1 

    18 DOTS entries:

    DT.101983260  DT.100026790  DT.95317941  DT.451838  DT.100655053  DT.91661090  DT.101970124  DT.40197303 
    DT.100655055  DT.120737311  DT.120737281  DT.448337  DT.95317974  DT.95317977  DT.100791595  DT.92437597 
    DT.95317946  DT.92027984 

    Selected AceView cDNA sequences (see all 284):

    AA253468 AA507563 AA121355 BU618285 AV709597 BU155784 AK125164 AI079357 
    CK903350 AA954272 AW183176 F09187 AK098647 BQ430045 AL520078 BG110431 
    AI741694 AY225092 BC009053 BQ071676 BQ008579 AI092736 AL599577 BU580499 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for CEP57 (see all 8)    About this scheme

    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:                                      -           -                                   -                                                   


    ECgene alternative splicing isoforms for CEP57

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    CEP57 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    CEP57 Expression
    About this image

    CEP57 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CEP57 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.101014

    UniProtKB/Swiss-Prot: CEP57_HUMAN, Q86XR8
    Tissue specificity: Ubiquitous

        Custom PCR Arrays for CEP57
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    QuantiFast Probe-based Assays in human, mouse, rat CEP57
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CEP57

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for CEP57 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cep571 , 5 centrosomal protein 571, 5 87.35(n)1
    88.25(a)1
      9 (3.49 cM)5
    743601  NM_026665.41  NP_080941.31 
     138077925 
    chicken
    (Gallus gallus)
    Aves CEP571 centrosomal protein 57kDa 64.17(n)
    62.82(a)
      418993  XM_417188.4  XP_417188.1 
    lizard
    (Anolis carolinensis)
    Reptilia CEP576
    centrosomal protein 57kDa
    51(a)
    1 ↔ 1
    3(195343075-195376169)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia cep571 centrosomal protein 57kDa 58.62(n)
    55.51(a)
      100494330  XM_002935576.2  XP_002935622.1 
    zebrafish
    (Danio rerio)
    Actinopterygii cep571 centrosomal protein 57 53.02(n)
    47.39(a)
      791201  NM_001080683.1  NP_001074152.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CEP57 gene
    CEP57L12  
    2 SIMAP similar genes for CEP57 using alignment to 10 protein entries:     CEP57_HUMAN (see all proteins):
    C6orf182    CEP57L1

    Find genes that share paralogs with CEP57           About GenesLikeMe


    2 Pseudogenes.org Pseudogenes for CEP57
    PGOHUM00000259504 PGOHUM00000240405


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for CEP57 (see all 1007)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2018366861,2
    --91592349(+) CTGAC-/TTTTTTG 3 -- int10--------
    rs339539381,2
    C--91592353(+) CTTTTTA/-GGTCC 3 -- int12Minor allele frequency- -:0.25NA CSA 4
    rs1137987911,2
    C--91592353(+) ACTTTA/TGGTCC 3 -- int11Minor allele frequency- T:0.00CSA 1
    rs562980211,2
    C--91610889(+) CATATG/TTGTTT 3 -- int11Minor allele frequency- T:0.50NA 2
    rs562855341,2
    C--91618851(+) TTGTT-/G/GTT 
            
    TTCCC
    6 -- int1 cds10--------
    rs17271651,2
    C,F,A,H--95392457(+) AAACTG/ATTCAG 3 -- us2k129Minor allele frequency- A:0.44EA NS NA WA CSA EU 5279
    rs1125759741,2
    C--95392480(+) TCTTGC/TTGAAA 3 -- us2k11Minor allele frequency- T:0.50CSA 2
    rs1996712991,2
    C--95392535(+) GACATC/TCCTGT 3 -- us2k10--------
    rs2020110571,2
    F--95392553(+) CAATAC/AATTAG 3 -- us2k11Minor allele frequency- A:0.00EU 1315
    rs1999468721,2
    F--95392554(+) AATACA/GTTAGT 3 -- us2k11Minor allele frequency- G:0.00EU 1317

    HapMap Linkage Disequilibrium report for CEP57 (95523129 - 95565857 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for CEP57:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2606020CNV Deletion19546169
    nsv832235CNV Gain17160897

    Human Gene Mutation Database (HGMD): CEP57
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CEP57
    DNA2.0 Custom Variant and Variant Library Synthesis for CEP57

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 607951   
    OMIM disorders: 614114  
    UniProtKB/Swiss-Prot: CEP57_HUMAN, Q86XR8
  • 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. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • 3 diseases for CEP57:    
    About MalaCards
    mosaic variegated aneuploidy syndrome    mosaic variegated aneuploidy syndrome 2    mosaic variegated aneuploidy syndrome 1


    Find genes that share disorders with CEP57           About GenesLikeMe

    Genetic Association Database (GAD): CEP57
    Human Genome Epidemiology (HuGE) Navigator: CEP57 (3 documents)

    Export disorders for CEP57 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for CEP57 gene, integrated from 10 sources (see all 39):
    (articles sorted by number of sources associating them with CEP57)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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. (PubMed id 7788527)1, 2, 3 Nagase T.... Nomura N. (DNA Res. 1995)
    2. Translokin is an intracellular mediator of FGF-2 trafficking. (PubMed id 12717444)1, 2, 9 Bossard C....Prats H. (Nat. Cell Biol. 2003)
    3. Mutations in CEP57 cause mosaic variegated aneuploidy syndrome. (PubMed id 21552266)1, 2 Snape K....Rahman N. (Nat. Genet. 2011)
    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. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    7. Proteomic characterization of the human centrosome by protein correlation profiling. (PubMed id 14654843)1, 2 Andersen J.S....Mann M. (Nature 2003)
    8. Tsp57: a novel gene induced during a specific stage of spermatogenesis. (PubMed id 12954732)1, 9 Kim Y.S....Jetten A.M. (Biol. Reprod. 2004)
    9. Pivotal role of translokin/CEP57 in the unconventional secretion versus nuclear translocation of FGF2. (PubMed id 19804566)1, 9 Meunier S....Prats H. (Traffic 2009)
    10. Systematic identification of hepatocellular proteins interacting with NS5A of the hepatitis C virus. (PubMed id 15607035)1, 9 Ahn J.... Hoe K.-L. (J. Biochem. Mol. Biol. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 9702 HGNC: 30794 AceView: KIAA0092 Ensembl:ENSG00000166037 euGenes: HUgn9702
    ECgene: CEP57 H-InvDB: CEP57

    (According to HUGE)
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    HUGE: KIAA0092

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for CEP57 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for CEP57 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for CEP57 gene:
    Search GeneIP for patents involving CEP57

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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