IFT81 Gene Summary [Human]
The protein encoded by this gene, together with IFT74, forms a tubulin-binding module of intraflagellar transport complex B. This module is involved in transport of tubulin within the cilium, and the encoded protein is required for ciliogenesis. Mutations in this gene are a cause of short-rib polydactyly syndromes. [provided by RefSeq, Dec 2016]
Details
| Type | Protein Coding |
| Official Symbol | IFT81 |
| Official Name | intraflagellar transport 81 [Source:HGNC Symbol;Acc:HGNC:14313] |
| Ensembl ID | ENSG00000122970 |
| Bio databases IDs | |
| Aliases | intraflagellar transport 81 |
| Synonyms | CDV-1, CDV-1R, DV1, intraflagellar transport 81, SRTD19 |
| 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 IFT81 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- tubulin binding
- Intraflagellar transport 81 calponin homology domain
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- pain
- bipolar I disorder
- hepatocellular carcinoma
- epithelial cancer
- short-rib thoracic dysplasia 19 without polydactyly
- retinal dystrophy
- short-rib thoracic dysplasia 19 with or without polydactyly
- headache
- major depression
- short-rib thoracic dysplasia 19 with polydactyly
role in cell
- assembly
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Extracellular Space
- motile cilia
- ciliary tip
- Cytoplasm
- cilia
- basal bodies
- centrosome
- centriole
- sperm midpiece
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human IFT81 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cilium morphogenesis
- intraflagellar transport
- spermatogenesis
- intraflagellar transport involved in cilium morphogenesis
- intraflagellar anterograde transport
- regulation of smoothened signaling pathway
Cellular Component
Where in the cell the gene product is active
- motile cilium
- centrosome
- sperm midpiece
- cilium basal body
- centriole
- cytoplasm
- cilium
- sperm principal piece
- intraflagellar transport particle B
Molecular Function
What the gene product does at the molecular level
- tubulin binding
- protein binding