CEP57
entrez
9702
canonical
uniprot
Q86XR8
canonical
ensembl
ENSG00000166037
resolver
ensp
ENSP00000317487
resolver
ensp
ENSP00000317902
resolver
ensp
ENSP00000441392
resolver
ensp
ENSP00000443436
resolver
ensp
ENSP00000542275
resolver
ensp
ENSP00000542278
resolver
ensp
ENSP00000610450
resolver
ensp
ENSP00000610451
resolver
ensp
ENSP00000614677
resolver
enst
ENST00000537677
resolver
genesymbol
CEP57
resolver
genesymbol_syn
KIAA0092
resolver
genesymbol_syn
TSP57
resolver
hgnc
HGNC:30794
resolver
uniprot
A0PJH1
resolver
uniprot
A8K5D0
resolver
uniprot
B4DDP5
resolver
uniprot
F5GYW0
resolver
uniprot
F5H5F7
resolver
uniprot
Q14704
resolver
uniprot
Q5JB46
resolver
uniprot
Q8IXP0
resolver
uniprot
Q9BVF9
resolver
uniprot_entry
CEP57_HUMAN
resolver
uniprot_entry
F5GYW0_HUMAN
resolver
uniprot_sec
A0PJH1
resolver
uniprot_sec
A8K5D0
resolver
uniprot_sec
B4DDP5
resolver
uniprot_sec
F5H5F7
resolver
uniprot_sec
Q14704
resolver
uniprot_sec
Q5JB46
resolver
uniprot_sec
Q8IXP0
resolver
uniprot_sec
Q9BVF9
resolver
amino_acid_sequence
MAAASVSAASGSHLSNSFAEPSRSNGSMVRHSSSPYVVYPSDKPFLNSDLRRSPSKPTLAYPESNSRAIFSALKNLQDKIRRLELERIQAEESVKTLSRETIEYKKVLDEQIQERENSKNEESKHNQELTSQLLAAENKCNLLEKQLEYMRNMIKHAEMERTSVLEKQVSLERERQHDQTHVQSQLEKLDLLEQEYNKLTTMQALAEKKMQELEAKLHEEEQERKRMQAKAAELQTGLETNRLIFEDKATPCVPNARRIKKKKSKPPEKKSSRNYFGAQPHYRLCLGDMPFVAGKSTSPSHAVVANVQLVLHLMKQHSKALCNDRVINSIPLAKQVSSRGGKSKKLSVTPPSSNGINEELSEVLQTLQDEFGQMSFDHQQLAKLIQESPTVELKDKLECELEALVGRMEAKANQITKVRKYQAQLEKQKLEKQKKELKATKKTLDEERNSSSRSGITGTTNKKDFMKLRPGEKRRKNLQLLKDMQSIQNSLQSSSLCWDY
uniprot
proteins
disease_involvement
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 variants affecting the gene represented in this entry.
uniprot
proteins
function
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}.
uniprot
proteins
mass_dalton
57089
uniprot
proteins
protein_family
Translokin family
uniprot
proteins
pubmed
12717444
uniprot
proteins
pubmed
14654843
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16554811
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
21552266
uniprot
proteins
pubmed
22321063
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
7788527
uniprot
proteins
sequence_length
500
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000250}. Cytoplasm. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:14654843}.
uniprot
proteins