IFT140 Gene Summary [Human]

This gene encodes one of the subunits of the intraflagellar transport (IFT) complex A. Intraflagellar transport is involved in the genesis, resorption and signaling of primary cilia. The primary cilium is a microtubule-based sensory organelle at the surface of most quiescent mammalian cells, that receives signals from its environment, such as the flow of fluid, light or odors, and transduces those signals to the nucleus. Loss of the corresponding protein in mouse results in renal cystic disease. [provided by RefSeq, Jun 2012]

Details

Type
Protein Coding
Official Symbol
IFT140
Official Name
intraflagellar transport 140 [Source:HGNC Symbol;Acc:HGNC:29077]
Ensembl ID
ENSG00000187535
Bio databases IDs NCBI: 9742 Ensembl: ENSG00000187535
Aliases intraflagellar transport 140
Synonyms AI661311, c305C8.4, c380F5.1, gs114, intraflagellar transport 140, LOC100044023, mKIAA0590, MZSDS, RP80, SRTD9, Tce5, WDTC2
Species
Human, Homo sapiens
OrthologiesMouseRat

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 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 human 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 human 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

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.