CEP135 Gene Summary [Human]
This gene encodes a centrosomal protein, which acts as a scaffolding protein during early centriole biogenesis, and is also required for centriole-centriole cohesion during interphase. Mutations in this gene are associated with autosomal recessive primary microcephaly-8. [provided by RefSeq, Jun 2012]
Details
| Type | Protein Coding |
| Official Symbol | CEP135 |
| Official Name | centrosomal protein 135 [Source:HGNC Symbol;Acc:HGNC:29086] |
| Ensembl ID | ENSG00000174799 |
| Bio databases IDs | |
| Aliases | centrosomal protein 135 |
| Synonyms | centrosomal protein 135, CEP4, FLJ13621, Gm1044, KIAA0635, MCPH8, RGD1310726 |
| 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 CEP135 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- chromosome segregation protein SMC, primarily archaeal type
- exonuclease SbcC
- Synaptonemal complex protein 1 (SCP-1)
- rad50
- Myosin tail
- helix-rich Mycoplasma protein
- protein binding
- Protein of unknown function (DUF3584)
- identical protein binding
- chromosome segregation protein SMC, common bacterial type
- microtubule binding
- RecF/RecN/SMC N terminal domain
- tubulin binding
- protein homodimerization
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- autosomal recessive primary microcephaly type 8
- hereditary disorder
- auditory neuropathy
role in cell
- assembly
- duplication in
- enzalutamide resistance
- elongation in
- number
- duplication
- formation
- elongation
- length
- replication
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
- centrosome
- centriole
- cytosol
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human CEP135 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- centriole replication
- centriole-centriole cohesion
Cellular Component
Where in the cell the gene product is active
- centrosome
- centriole
- cytosol
Molecular Function
What the gene product does at the molecular level
- tubulin binding
- identical protein binding
- protein binding
- protein homodimerization activity
- microtubule binding