SASS6 Gene Summary [Human]
The protein encoded by this gene is a central component of centrioles and is necessary for their duplication and function. Centrioles adopt a cartwheel-shaped structure, with the encoded protein forming the hub and spokes inside a microtubule cylinder. Defects in this gene are a cause of autosomal recessive primary microcephaly. [provided by RefSeq, Oct 2016]
Details
| Type | Processed Transcript |
| Official Symbol | SASS6 |
| Official Name | SAS-6 centriolar assembly protein [Source:HGNC Symbol;Acc:HGNC:25403] |
| Ensembl ID | ENSG00000156876 |
| Bio databases IDs | |
| Aliases | SAS-6 centriolar assembly protein |
| Synonyms | 2810453L12Rik, HSSAS-6, LOC102555636, MCPH14, RGD1306255, SAS-6, SAS-6 centriolar assembly protein |
| 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 SASS6 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Ciliary protein causing Leber congenital amaurosis disease
- Sas6/XLF/XRCC4 coiled-coil domain
- Centriolar protein SAS N-terminal
- Growth-arrest specific micro-tubule binding
- protein binding
- N-terminal head domain found in the XRCC4 superfamily of proteins
- Calcium binding and coiled-coil domain (CALCOCO1) like
Pathways
Biological processes and signaling networks where the SASS6 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- hereditary disorder
- autosomal recessive primary microcephaly type 14
role in cell
- formation
- overduplication
- assembly
- replication
- overduplication in
- assembly in
- duplication in
- duplication
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
- organelle
- centrosome
- centriole
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SASS6 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- positive regulation of G1/S transition of mitotic cell cycle
- centriole replication
- centrosome duplication
- positive regulation of centriole replication
- regulation of mitotic spindle organization
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