CFAP410 Gene Summary [Human]
Four alternatively spliced transcript variants encoding four different isoforms have been found for this nuclear gene. All isoforms contain leucine-rich repeats. Three of these isoforms are mitochondrial proteins and one of them lacks the target peptide, so is not located in mitochondrion. This gene is down-regulated in Down syndrome (DS) brain, which may represent mitochondrial dysfunction in DS patients. [provided by RefSeq, Sep 2012]
Details
| Type | Protein Coding |
| Official Symbol | CFAP410 |
| Official Name | cilia and flagella associated protein 410 [Source:HGNC Symbol;Acc:HGNC:1260] |
| Ensembl ID | ENSG00000160226 |
| Bio databases IDs | |
| Aliases | cilia and flagella associated protein 410, nuclear encoded mitochondrial protein, leucine rich repeat containing 76 |
| Synonyms | 1810043G02Rik, C21orf2, cilia and flagella associated protein 410, D10Jhu13e, LOC100996591, LRRC76, RDMS, RGD1309594, SMDAX, YF5/A2 |
| 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 CFAP410 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- occurring C-terminal to leucine-rich repeats
- Leucine rich repeat
- protein binding
- Leucine Rich repeats (2 copies)
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- retinal dystrophy without macular staphyloma
- susceptibility to amyotrophic lateral sclerosis
- axial spondylometaphyseal dysplasia
- retinal dystrophy with or without macular staphyloma
- amyotrophic lateral sclerosis
- retinitis pigmentosa
- retinal dystrophy
- cone dystrophy
- cone-rod dystrophy
- Leber congenital amaurosis type 1
role in cell
- organization
- assembly
- homologous recombination in
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
- intracellular membrane-bounded organelle
- non-motile cilium
- Plasma Membrane
- basal bodies
- Golgi Apparatus
- Mitochondria
- cytosol
- connecting cilia
- nucleoplasm
- neurites
- photoreceptor outer segments
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human CFAP410 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- regulation of cell shape
- cilium morphogenesis
- cytoskeleton organization
- smoothened signaling pathway
- response to DNA damage stimulus
Cellular Component
Where in the cell the gene product is active
- photoreceptor connecting cilium
- cytoplasm
- cilium basal body
- intracellular membrane-bounded organelle
- mitochondrion
- cytosol
- plasma membrane
- photoreceptor outer segment
Molecular Function
What the gene product does at the molecular level
- protein binding