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MGP003987

UniProt Annotations

Entry Information

Gene Name	centrosomal protein 57kDa
Protein Entry	CEP57_HUMAN
UniProt ID	Q86XR8
Species	Human

Comments

Comment type	Description
Alternative Products	Event=Alternative splicing; Named isoforms=5; Name=1; IsoId=Q86XR8-1; Sequence=Displayed; Name=2; IsoId=Q86XR8-2; Sequence=VSP_012262; Name=3; IsoId=Q86XR8-3; Sequence=VSP_012263, VSP_012264; Name=4; IsoId=Q86XR8-4; Sequence=VSP_037839, VSP_037840; Note=No experimental confirmation available.; Name=5; IsoId=Q86XR8-5; Sequence=VSP_037839; Note=No experimental confirmation available.;
Disease	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.
Domain	The centrosome localization domain (CLD) region mediates the localization to centrosomes and homooligomerization. {ECO:0000250}.
Domain	The C-terminal region mediates the interaction with microtubules and is able to nucleate and bundles microtubules in vitro. {ECO:0000250}.
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. {ECO:0000269\|PubMed:22321063}.
Interaction	P01106:MYC; NbExp=3; IntAct=EBI-308614, EBI-447544;
Sequence Caution	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};
Similarity	Belongs to the translokin family. {ECO:0000305}.
Subcellular Location	Nucleus {ECO:0000250}. Cytoplasm. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome.
Subunit	Homodimer and homooligomer. Interacts with microtubules. Interacts with FGF2 and RAP80. Does not interact with FGF1 or FGF2 isoform 24 kDa. {ECO:0000269\|PubMed:12717444}.
Tissue Specificity	Ubiquitous. {ECO:0000269\|PubMed:12717444}.
Web Resource	Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/CEP57ID43008ch11q21.html";