CEP164 Gene Summary [Human]
This gene encodes a centrosomal protein involved in microtubule organization, DNA damage response, and chromosome segregation. The encoded protein is required for assembly of primary cilia and localizes to mature centrioles. Defects in this gene are a cause of nephronophthisis-related ciliopathies. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]
Details
| Type | Protein Coding |
| Official Symbol | CEP164 |
| Official Name | centrosomal protein 164 [Source:HGNC Symbol;Acc:HGNC:29182] |
| Ensembl ID | ENSG00000110274 |
| Bio databases IDs | |
| Aliases | centrosomal protein 164 |
| Synonyms | BC027092, centrosomal protein 164, D030051D21, KIAA1052, NPHP15, RGD1560988, RGD1561243 |
| 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 CEP164 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Nuf2, DHR10-like domain
- Arginine and glutamate-rich 1
- Ciliary protein causing Leber congenital amaurosis disease
- Synaptonemal complex protein 1 (SCP-1)
- helix-rich Mycoplasma protein
- Type III secretion protein YscO
- Domain with 2 conserved Trp (W) residues
- Myosin-like coiled-coil protein
- WW
- Family with sequence similarity 184, A and B
- Coiled-coil domain-containing protein 154
- Mitotic checkpoint protein
- polo kinase kinase
- Domain of unknown function (DUF4515)
- RNase Y N-terminal region
- Tropomyosin like
- Ezrin/radixin/moesin, alpha-helical domain
- PspA/IM30 family
- protein binding
- Calcium binding and coiled-coil domain (CALCOCO1) like
- PLC-beta C terminal
- WW domain
- Domain of unknown function (DUF4659)
- Domain of unknown function (DUF4686)
- RIM-binding protein of the cytomatrix active zone
- MAP7 (E-MAP-115) family
- Trichohyalin-plectin-homology domain
- Growth-arrest specific micro-tubule binding
- Intermediate filament protein
- Apolipoprotein A1/A4/E domain
- Septation ring formation regulator, EzrA
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
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
- distal centriolar appendage
- mother centriole
- motile cilia
- intracellular membrane-bounded organelle
- ciliary transition fiber
- cilia
- apical compartment
- centrosome
- centriole
- cytosol
- apical cell surfaces
- centriolar appendages
- nucleoplasm
- glial cell projections
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human CEP164 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cell division
- DNA repair
- cilium morphogenesis
Cellular Component
Where in the cell the gene product is active
- centrosome
- extracellular space
- centriole
- intracellular membrane-bounded organelle
- cytosol
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- protein binding