Ift140 Gene Summary [Mouse]
Acts upstream of or within several processes, including cilium organization; embryonic organ development; and regionalization. Located in cytoskeleton and photoreceptor cell cilium. Part of intraciliary transport particle A. Is expressed in several structures, including adrenal gland; bone; eye; heart; and perichondrium. Used to study asphyxiating thoracic dystrophy 1 and short-rib thoracic dysplasia 9 with or without polydactyly. Human ortholog(s) of this gene implicated in retinitis pigmentosa and short-rib thoracic dysplasia 9 with or without polydactyly. Orthologous to human IFT140 (intraflagellar transport 140). [provided by Alliance of Genome Resources, Apr 2025]
Details
| Type | Protein Coding |
| Official Symbol | Ift140 |
| Official Name | intraflagellar transport 140 [Source:MGI Symbol;Acc:MGI:2146906] |
| Ensembl ID | ENSMUSG00000024169 |
| Bio databases IDs | |
| Aliases | intraflagellar transport 140 |
| Synonyms | AI661311, c305C8.4, c380F5.1, gs114, intraflagellar transport 140, LOC100044023, mKIAA0590, MZSDS, RP80, SRTD9, Tce5, WDTC2 |
| Species | Mouse, Mus musculus |
| 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 mouse Ift140 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- RNAse H
- WD40
- protein binding
Pathways
Biological processes and signaling networks where the Ift140 gene in mouse 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
- retinitis pigmentosa type 80
- short-rib thoracic dysplasia type 9 without polydactyly
- short-rib thoracic dysplasia type 1
- retinitis pigmentosa
- retinal dystrophy
- autosomal dominant polycystic kidney disease
- Jeune syndrome
- nephronophthisis
- IFT140-related recessive ciliopathy
- RP1 mutation positive retinal ciliopathy
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
- mother centriole
- ciliary transition zone
- ciliary tip
- non-motile cilium
- cilia
- basal bodies
- centrosome
- centriole
- Mitochondria
- axonemes
- connecting cilia
- nucleoplasm
- photoreceptor outer segments
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Ift140 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- heart development
- cilium morphogenesis
- embryonic camera-type eye development
- photoreceptor cell outer segment organization
- embryonic cranial skeleton morphogenesis
- determination of left/right symmetry
- intraflagellar retrograde transport
- neural tube patterning
- regulation of smoothened signaling pathway
- embryonic digit morphogenesis
Cellular Component
Where in the cell the gene product is active
- photoreceptor connecting cilium
- centrosome
- centriole
- cilium basal body
- cilium
- intraflagellar transport particle A
- axoneme
Molecular Function
What the gene product does at the molecular level
- protein binding