IFT172 Gene Summary [Human]
This gene encodes a subunit of the intraflagellar transport subcomplex IFT-B. Subcomplexes IFT-A and IFT-B are necessary for ciliary assembly and maintenance. Mutations in this gene have been associated with skeletal ciliopathies, with or without polydactyly, such as such short-rib thoracic dysplasias 1, 9 or 10. [provided by RefSeq, Mar 2014]
Details
| Type | Nonsense Mediated Decay |
| Official Symbol | IFT172 |
| Official Name | intraflagellar transport 172 [Source:HGNC Symbol;Acc:HGNC:30391] |
| Ensembl ID | ENSG00000138002 |
| Bio databases IDs | |
| Aliases | intraflagellar transport 172, wimple homolog |
| Synonyms | 4930553F24Rik, avc1, BBS20, intraflagellar transport 172, NPHP17, osm-1, RP71, SLB, SRTD10, wim |
| 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 IFT172 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- LIM binding domain
- WD40
- 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
- retinitis pigmentosa type 71
- short-rib thoracic dysplasia type 10 without polydactyly
- short-rib thoracic dysplasia type 10
- hereditary disorder
- Bardet-Biedl syndrome
- Bardet-Biedl syndrome type 20
- short-rib thoracic dysplasia type 10 with polydactyly
- edema
- psoriasis
- metabolic syndrome X
role in cell
- proliferation
- differentiation
- assembly
- morphology
- organization
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
- cilia
- Nucleus
- basal bodies
- sperm midpiece
- cytoplasmic vesicles
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human IFT172 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- keratinocyte proliferation
- cilium morphogenesis
- limb development
- palate development
- spinal cord motor neuron differentiation
- epidermis development
- smoothened signaling pathway
- brain development
- negative regulation of smoothened signaling pathway
- dorsal/ventral pattern formation
- bone development
- negative regulation of keratinocyte proliferation
- Notch signaling pathway
- neural tube closure
- intraflagellar transport
- positive regulation of smoothened signaling pathway
- embryonic camera-type eye morphogenesis
- heart looping
- protein processing
- cytoplasmic microtubule organization
- intraflagellar anterograde transport
- left/right axis specification
Cellular Component
Where in the cell the gene product is active
- sperm midpiece
- cilium basal body
- cilium
- sperm principal piece
- intraflagellar transport particle B
- axoneme