IFT88 Gene Summary [Human]
This gene encodes a member of the tetratrico peptide repeat (TPR) family. The encoded protein is involved in cilium biogenesis. Mutations of a similar gene in mouse can cause polycystic kidney disease. Several transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2017]
Details
| Type | Protein Coding |
| Official Symbol | IFT88 |
| Official Name | intraflagellar transport 88 [Source:HGNC Symbol;Acc:HGNC:20606] |
| Ensembl ID | ENSG00000032742 |
| Bio databases IDs | |
| Aliases | intraflagellar transport 88, polaris homolog |
| Synonyms | D13S1056E, DAF19, flexo, fxo, hTg737, intraflagellar transport 88, orpk, polaris, TG737, Tg737Rpw, TgN737Rpw, TTC10 |
| 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 IFT88 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- TPR repeat
- Soluble N-ethylmaleimide-sensitive factor (NSF) Attachment Protein family
- Tetratricopeptide repeats
- outer membrane assembly lipoprotein YfiO
- protein binding
- tetratricopeptide repeat
- Anaphase-promoting complex, cyclosome, subunit 3
- kinesin binding
- Soluble NSF attachment protein, SNAP
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- neoplastic cell transformation
- fibrosis
- diabetes mellitus
- liver neoplasia
- major depression
- hyperplasia
- liver neoplasm
- hydrocephalus
- hypoplasia
role in cell
- formation
- proliferation
- formation in
- production in
- expression in
- growth
- colony formation
- phosphorylation in
- number
- binding 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
- kinocilia
- mother centriole
- motile cilia
- microtubule cytoskeleton
- ciliary transition zone
- cytoplasmic vesicle membrane
- ciliary tip
- non-motile cilium
- cilia
- manchette
- basal bodies
- centrosome
- centriole
- axonemes
- cytoplasmic bridges
- cytosol
- connecting cilia
- primary cilia
- trans Golgi network
- nucleoli
- sperm tail
- acrosome
- photoreceptor inner segments
- mitotic spindle
- dendritic knobs
- centrosomal fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human IFT88 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- inner ear receptor stereocilium organization
- cilium morphogenesis
- intraflagellar transport
- kidney development
- response to silicon dioxide
- regulation of autophagic vacuole assembly
- positive regulation of flagellum assembly
- intraflagellar anterograde transport
Cellular Component
Where in the cell the gene product is active
- motile cilium
- centrosome
- centriole
- cilium basal body
- cilium
- cytosol
- intraflagellar transport particle B
- sperm flagellum
- manchette
Molecular Function
What the gene product does at the molecular level
- protein binding
- kinesin binding