Human Gene CEP57 (ENST00000325542.10_8) from GENCODE V47lift37
  Description: centrosomal protein 57, transcript variant 1 (from RefSeq NM_014679.5)
Gencode Transcript: ENST00000325542.10_8
Gencode Gene: ENSG00000166037.11_13
Transcript (Including UTRs)
   Position: hg19 chr11:95,523,662-95,565,857 Size: 42,196 Total Exon Count: 11 Strand: +
Coding Region
   Position: hg19 chr11:95,523,863-95,564,420 Size: 40,558 Coding Exon Count: 11 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr11:95,523,662-95,565,857)mRNA (may differ from genome)Protein (500 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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-  Comments and Description Text from UniProtKB
  ID: CEP57_HUMAN
DESCRIPTION: RecName: Full=Centrosomal protein of 57 kDa; Short=Cep57; AltName: Full=FGF2-interacting protein; AltName: Full=Testis-specific protein 57; AltName: Full=Translokin;
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 (By similarity).
SUBUNIT: Homodimer and homooligomer. Interacts with microtubules. Interacts with FGF2 and RAP80. Does not interact with FGF1 or FGF2 isoform 24 kDa.
INTERACTION: P01106:MYC; NbExp=3; IntAct=EBI-308614, EBI-447544;
SUBCELLULAR LOCATION: Nucleus (By similarity). Cytoplasm. Cytoplasm, cytoskeleton, centrosome.
TISSUE SPECIFICITY: Ubiquitous.
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).
DISEASE: Defects in CEP57 are the cause of mosaic variegated aneuploidy syndrome type 2 (MVA2) [MIM:614114]. MVA2 is 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.
SIMILARITY: Belongs to the translokin family.
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;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: CEP57
Diseases sorted by gene-association score: mosaic variegated aneuploidy syndrome 2* (1019), mosaic variegated aneuploidy syndrome* (791), mitral valve stenosis (7), mitral valve insufficiency (5)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 19.88 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 387.88 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -85.40201-0.425 Picture PostScript Text
3' UTR -300.301437-0.209 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR010597 - Centrosomal_protein_57kDa
IPR025913 - Cep57_CLD
IPR024957 - Cep57_MT-bd_dom

Pfam Domains:
PF06657 - Centrosome microtubule-binding domain of Cep57
PF14073 - Centrosome localisation domain of Cep57

ModBase Predicted Comparative 3D Structure on Q86XR8
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0008017 microtubule binding
GO:0017134 fibroblast growth factor binding
GO:0042802 identical protein binding
GO:0042803 protein homodimerization activity
GO:0043015 gamma-tubulin binding

Biological Process:
GO:0000060 protein import into nucleus, translocation
GO:0000070 mitotic sister chromatid segregation
GO:0000086 G2/M transition of mitotic cell cycle
GO:0007286 spermatid development
GO:0008543 fibroblast growth factor receptor signaling pathway
GO:0010389 regulation of G2/M transition of mitotic cell cycle
GO:0034453 microtubule anchoring
GO:0051260 protein homooligomerization
GO:0097711 ciliary basal body docking

Cellular Component:
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005794 Golgi apparatus
GO:0005813 centrosome
GO:0005815 microtubule organizing center
GO:0005829 cytosol
GO:0005856 cytoskeleton
GO:0005874 microtubule


-  Descriptions from all associated GenBank mRNAs
  BC001233 - Homo sapiens centrosomal protein 57kDa, mRNA (cDNA clone MGC:4896 IMAGE:3451715), complete cds.
AK291245 - Homo sapiens cDNA FLJ77284 complete cds.
AK293277 - Homo sapiens cDNA FLJ59312 complete cds, highly similar to Centrosomal protein of 57 kDa.
AK098647 - Homo sapiens cDNA FLJ25781 fis, clone TST06626.
BC031048 - Homo sapiens centrosomal protein 57kDa, mRNA (cDNA clone IMAGE:5271448).
AY239292 - Homo sapiens proliferation-inducing protein 8 mRNA, complete cds.
D42054 - Homo sapiens KIAA0092 mRNA.
BC039711 - Homo sapiens centrosomal protein 57kDa, mRNA (cDNA clone MGC:47657 IMAGE:5415088), complete cds.
BC029385 - Homo sapiens centrosomal protein 57kDa, mRNA (cDNA clone IMAGE:4609570), partial cds.
CU691748 - Synthetic construct Homo sapiens gateway clone IMAGE:100020801 5' read CEP57 mRNA.
KJ902012 - Synthetic construct Homo sapiens clone ccsbBroadEn_11406 CEP57 gene, encodes complete protein.
AB385276 - Synthetic construct DNA, clone: pF1KA0092, Homo sapiens CEP57 gene for centrosomal protein 57 kDa, complete cds, without stop codon, in Flexi system.
AY225092 - Homo sapiens translokin mRNA, complete cds.
BC009053 - Homo sapiens centrosomal protein 57kDa, mRNA (cDNA clone IMAGE:3855177).
JD393336 - Sequence 374360 from Patent EP1572962.
AK125164 - Homo sapiens cDNA FLJ43174 fis, clone FCBBF3007604.
JD389013 - Sequence 370037 from Patent EP1572962.
JD098581 - Sequence 79605 from Patent EP1572962.
JD357083 - Sequence 338107 from Patent EP1572962.
JD204536 - Sequence 185560 from Patent EP1572962.
JD539456 - Sequence 520480 from Patent EP1572962.
JD331718 - Sequence 312742 from Patent EP1572962.
JD502776 - Sequence 483800 from Patent EP1572962.
JD073361 - Sequence 54385 from Patent EP1572962.
JD202677 - Sequence 183701 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q86XR8 (Reactome details) participates in the following event(s):

R-HSA-380272 Plk1-mediated phosphorylation of Nlp
R-HSA-380283 Recruitment of additional gamma tubulin/ gamma TuRC to the centrosome
R-HSA-380294 Loss of C-Nap-1 from centrosomes
R-HSA-380311 Recruitment of Plk1 to centrosomes
R-HSA-380455 Recruitment of CDK11p58 to the centrosomes
R-HSA-380303 Dissociation of Phospho-Nlp from the centrosome
R-HSA-5626220 C2CD3 binds the mother centriole
R-HSA-380508 Translocation of NuMA to the centrosomes
R-HSA-2574845 AJUBA binds centrosome-associated AURKA
R-HSA-8853405 TPX2 binds AURKA at centrosomes
R-HSA-3000319 BORA binds PLK1 and AURKA
R-HSA-2574840 AJUBA facilitates AURKA autophosphorylation
R-HSA-3000310 AURKA phosphorylates PLK1
R-HSA-5626223 C2CD3 and OFD1 recruit 5 distal appendage proteins to the centriole
R-HSA-5626681 Recruitment of transition zone proteins
R-HSA-5626227 CP110 and CEP97 dissociate from the centriole
R-HSA-380316 Association of NuMA with microtubules
R-HSA-8853419 TPX2 promotes AURKA autophosphorylation
R-HSA-5626228 The distal appendage proteins recruit TTBK2
R-HSA-5638009 CEP164 recruits RAB3IP-carrying Golgi-derived vesicles to the basal body
R-HSA-5626699 MARK4 binds ODF2 in the centriole
R-HSA-5617816 RAB3IP stimulates nucleotide exchange on RAB8A
R-HSA-380259 Loss of Nlp from mitotic centrosomes
R-HSA-380270 Recruitment of mitotic centrosome proteins and complexes
R-HSA-380284 Loss of proteins required for interphase microtubule organization from the centrosome
R-HSA-5620912 Anchoring of the basal body to the plasma membrane
R-HSA-380320 Recruitment of NuMA to mitotic centrosomes
R-HSA-2565942 Regulation of PLK1 Activity at G2/M Transition
R-HSA-8854518 AURKA Activation by TPX2
R-HSA-380287 Centrosome maturation
R-HSA-5617833 Cilium Assembly
R-HSA-68877 Mitotic Prometaphase
R-HSA-69275 G2/M Transition
R-HSA-1852241 Organelle biogenesis and maintenance
R-HSA-68886 M Phase
R-HSA-453274 Mitotic G2-G2/M phases
R-HSA-69278 Cell Cycle (Mitotic)
R-HSA-1640170 Cell Cycle

-  Other Names for This Gene
  Alternate Gene Symbols: A0PJH1, A8K5D0, B4DDP5, CEP57_HUMAN, ENST00000325542.1, ENST00000325542.2, ENST00000325542.3, ENST00000325542.4, ENST00000325542.5, ENST00000325542.6, ENST00000325542.7, ENST00000325542.8, ENST00000325542.9, F5H5F7, KIAA0092, NM_014679, Q14704, Q5JB46, Q86XR8, Q8IXP0, Q9BVF9, TSP57, uc317rwt.1, uc317rwt.2
UCSC ID: ENST00000325542.10_8
RefSeq Accession: NM_014679.5
Protein: Q86XR8 (aka CEP57_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
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