CEP170 (centrosomal protein 170)
|
Gene
Gene information from NCBI Gene database.
|
|
| Entrez ID | 9859 |
| Gene name | Centrosomal protein 170 |
| Gene symbol | CEP170 |
| Synonyms (NCBI Gene) |
FAM68AKABKIAA0470
|
| Chromosome | 1 |
| Chromosome location | 1q43 |
| Summary | The product of this gene is a component of the centrosome, a non-membraneous organelle that functions as the major microtubule-organizing center in animal cells. During interphase, the encoded protein localizes to the sub-distal appendages of mature centr |
|
miRNA
miRNA information provided by mirtarbase database.
405
|
|||||||||||||||||||||||||
|
|||||||||||||||||||||||||
|
Gene ontology (GO)
Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
13
|
|||||||||||||||||||||||||||||||
|
|||||||||||||||||||||||||||||||
|
Other IDs
Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
|
|||||||
|
|||||||
|
Protein
Protein information from UniProt database.
|
||||||||||||||||
|
UniProt ID
Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
|
Q5SW79 | |||||||||||||||
| Protein name | Centrosomal protein of 170 kDa (Cep170) (KARP-1-binding protein) (KARP1-binding protein) | |||||||||||||||
| Protein function | Plays a role in microtubule organization (PubMed:15616186). Required for centriole subdistal appendage assembly (PubMed:28422092). | |||||||||||||||
| PDB | 4JON | |||||||||||||||
| Family and domains |
Pfam
|
|||||||||||||||
| Sequence |
|
|||||||||||||||
| Sequence length | 1584 | |||||||||||||||
| Interactions | View interactions | |||||||||||||||
|
Associated diseases
Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
|
|||||||||||||||||||||||||||||||||||||||||||
|
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)
|
|||||||||||||||||||||||||||||||||||||||||||
|
|||||||||||||||||||||||||||||||||||||||||||
|
|||||||||||||||||||||||||||||||||||||||||||