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;
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.
Pfam Domains: PF06657 - Centrosome microtubule-binding domain of Cep57 PF14073 - Centrosome localisation domain of Cep57
ModBase Predicted Comparative 3D Structure on Q86XR8
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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.
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
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Common Gene Haplotype Alleles 
