Official symbol | CEP57 |
Gene id | 9702 |
Organism | Homo sapiens |
Official full symbol | centrosomal protein 57 |
Gene type | protein-coding |
Also known as | MVA2, PIG8, TSP57 |
Summary | 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. |
Genomic regions | Chromosome 11 |
Name | Transcript ID | bp | Protein | Biotype | CCDS | UniProt Match | RefSeq Match | Flags |
CEP57-202 | ENST00000325542.10 | 3141 | 500aa | Protein coding | CCDS8304 | Q86XR8-1 | NM_014679.5 | TSL:1, GENCODE basic, APPRIS P4, MANE Select v0.92, |
CEP57-201 | ENST00000325486.9 | 3098 | 474aa | Protein coding | CCDS58166 | Q86XR8-2 | - | TSL:1, GENCODE basic, APPRIS ALT2, |
CEP57-213 | ENST00000541150.5 | 2911 | 491aa | Protein coding | CCDS58167 | Q86XR8-5 | - | TSL:5, GENCODE basic, APPRIS ALT2, |
CEP57-207 | ENST00000537677.5 | 1647 | 473aa | Protein coding | CCDS86240 | F5GYW0 | - | TSL:5, GENCODE basic, APPRIS ALT2, |
CEP57-210 | ENST00000538658.5 | 2084 | 270aa | Protein coding | - | Q86XR8-3 | - | TSL:1, GENCODE basic, |
CEP57-214 | ENST00000541365.5 | 870 | 205aa | Protein coding | - | F5H1B0 | - | CDS 3' incomplete, TSL:3, |
CEP57-216 | ENST00000544522.5 | 851 | 198aa | Protein coding | - | F5H0C6 | - | CDS 3' incomplete, TSL:2, |
CEP57-203 | ENST00000535224.1 | 760 | 254aa | Protein coding | - | H0YFT8 | - | CDS 5' and 3' incomplete, TSL:3, |
CEP57-206 | ENST00000537093.5 | 404 | 134aa | Protein coding | - | H0YGT4 | - | CDS 5' and 3' incomplete, TSL:5, |
CEP57-212 | ENST00000540830.5 | 1936 | 71aa | Nonsense mediated decay | - | F5GXS6 | - | TSL:1, |
CEP57-211 | ENST00000539855.5 | 1739 | 82aa | Nonsense mediated decay | - | F5H6R3 | - | TSL:5, |
CEP57-208 | ENST00000538095.1 | 590 | 52aa | Nonsense mediated decay | - | F5GZ93 | - | TSL:4, |
CEP57-204 | ENST00000535497.1 | 446 | 41aa | Nonsense mediated decay | - | F5H7J4 | - | TSL:3, |
CEP57-205 | ENST00000536587.5 | 447 | No protein | Processed transcript | - | - | - | TSL:5, |
CEP57-209 | ENST00000538158.1 | 2632 | No protein | Retained intron | - | - | - | TSL:2, |
CEP57-215 | ENST00000541768.1 | 503 | No protein | Retained intron | - | - | - | TSL:2, |
Target Gene | CEP57 |
This KO Strategy | loading |
Red Cotton™ Notes | Gene CEP57 had been KO in hela cell line. |
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