CEP350 (centrosomal protein 350)
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Gene
Gene information from NCBI Gene database.
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| Entrez ID | 9857 |
| Gene name | Centrosomal protein 350 |
| Gene symbol | CEP350 |
| Synonyms (NCBI Gene) |
CAP350GM133
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| Chromosome | 1 |
| Chromosome location | 1q25.2 |
| Summary | The product of this gene is a large protein with a CAP-Gly domain typically found in cytoskeleton-associated proteins. The encoded protein primarily localizes to the centrosome, a non-membraneous organelle that functions as the major microtubule-organizin |
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miRNA
miRNA information provided by mirtarbase database.
593
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Gene ontology (GO)
Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
21
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Other IDs
Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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Protein
Protein information from UniProt database.
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UniProt ID
Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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Q5VT06 | |||||||||||||||
| Protein name | Centrosome-associated protein 350 (Cep350) (Centrosome-associated protein of 350 kDa) | |||||||||||||||
| Protein function | Plays an essential role in centriole growth by stabilizing a procentriolar seed composed of at least, SASS6 and CPAP (PubMed:19052644). Required for anchoring microtubules to the centrosomes and for the integrity of the microtubule network (PubM | |||||||||||||||
| PDB | 2COZ | |||||||||||||||
| Family and domains |
Pfam
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| Tissue specificity | TISSUE SPECIFICITY: Detected in heart, brain, skeletal muscle, testis, placenta, lung, liver, kidney and pancreas. {ECO:0000269|PubMed:11891061, ECO:0000269|PubMed:15615782}. | |||||||||||||||
| Sequence |
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| Sequence length | 3117 | |||||||||||||||
| Interactions | View interactions | |||||||||||||||
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Associated diseases
Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
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Evidence Score:
★☆☆☆☆ Gene-disease association found in Text Mining only
★★☆☆☆ Found in Text Mining and Unknown/Other Associations
★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources
★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
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