CEP120 Gene Summary [Human]
This gene encodes a protein that functions in the microtubule-dependent coupling of the nucleus and the centrosome. A similar protein in mouse plays a role in both interkinetic nuclear migration, which is a characteristic pattern of nuclear movement in neural progenitors, and in neural progenitor self-renewal. Mutations in this gene are predicted to result in neurogenic defects. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
Details
| Type | Retained Intron |
| Official Symbol | CEP120 |
| Official Name | centrosomal protein 120 [Source:HGNC Symbol;Acc:HGNC:26690] |
| Ensembl ID | ENSG00000168944 |
| Bio databases IDs | |
| Aliases | centrosomal protein 120 |
| Synonyms | A230075C01, CCDC100, centrosomal protein 120, JBTS31, RGD1565619, SRTD13 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human CEP120 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Coiled-coil domain-containing protein 3
- Autophagy protein 16 (ATG16)
- Ciliary protein causing Leber congenital amaurosis disease
- Ezrin/radixin/moesin, alpha-helical domain
- coiled-coil domain
- protein binding
- Domain of unknown function (DUF4659)
- Mechanosensitive ion channel porin domain
- Trichohyalin-plectin-homology domain
- Proteobacterial lipase chaperone protein
- BRE1 E3 ubiquitin ligase
- Cep120 protein
- Intermediate filament protein
- Domain of unknown function (DUF4472)
- Centrosomal protein of 63 kDa
- C2 domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- short-rib thoracic dysplasia type 13 without polydactyly
- non-insulin-dependent diabetes mellitus
- short-rib thoracic dysplasia type 13
- Chuvash polycythemia
- Joubert syndrome type 31
- primary snoring
- plasma cell myeloma
- sleep apnea syndrome
- short-rib thoracic dysplasia type 13 with polydactyly
- renal fibrosis
role in cell
- proliferation
- number
- apoptosis
- overduplication
- length
- assembly
- duplication
- maturation
- overduplication in
- organization
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- daughter centriole
- centrosome
- centriole
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human CEP120 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- astral microtubule organization
- centrosome cycle
- positive regulation of centrosome duplication
- neurogenesis
- cerebral cortex development
- positive regulation of flagellum assembly
- interkinetic nuclear migration
Cellular Component
Where in the cell the gene product is active
- centrosome
- centriole
- cytoplasm
Molecular Function
What the gene product does at the molecular level
- protein binding