IFT74 Gene Summary [Human]

This gene encodes a core intraflagellar transport (IFT) protein which belongs to a multi-protein complex involved in the transport of ciliary proteins along axonemal microtubules. IFT proteins are found at the base of the cilium as well as inside the cilium, where they assemble into long arrays between the ciliary base and tip. This protein, together with intraflagellar transport protein 81, binds and transports tubulin within cilia and is required for ciliogenesis. Naturally occurring mutations in this gene are associated with amyotrophic lateral sclerosis--frontotemporal dementia and Bardet-Biedl Syndrome. [provided by RefSeq, Mar 2017]

Details

Type
Protein Coding
Official Symbol
IFT74
Official Name
intraflagellar transport 74 [Source:HGNC Symbol;Acc:HGNC:21424]
Ensembl ID
ENSG00000096872
Bio databases IDs NCBI: 80173 Ensembl: ENSG00000096872
Aliases intraflagellar transport 74, capillary morphogenesis protein 1
Synonyms 1700029H06Rik, b2b796Clo, BBS22, CCDC2, CMG-1, intraflagellar transport 74, JBTS40, SPGF58
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 IFT74 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • beta-tubulin binding
  • helix-rich Mycoplasma protein
  • chromatin binding
  • 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
  • Joubert syndrome type 40
  • Bardet-Biedl syndrome type 22
  • hereditary disorder
  • spermatogenic failure 58
  • congenital heart disease
  • Jeune syndrome
regulates
  • DNA promoter
  • DNA endogenous promoter
  • CCND2
  • RNA polymerase II
role in cell
  • cell death
  • proliferation
  • development
  • 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.
  • Cytoplasm
  • motile cilia
  • ciliary tip
  • cilia
  • Nucleus
  • centrosome

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human IFT74 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • negative regulation of keratinocyte proliferation
  • heart development
  • Notch signaling pathway
  • keratinocyte proliferation
  • cilium morphogenesis
  • intraflagellar transport involved in cilium morphogenesis
  • positive regulation of cell adhesion mediated by integrin
  • positive regulation of transcription from RNA polymerase II promoter
  • intraflagellar anterograde transport
  • determination of left/right symmetry
  • keratinocyte development

Cellular Component

Where in the cell the gene product is active
  • nucleus
  • motile cilium
  • centrosome
  • acrosomal vesicle
  • cilium
  • intraflagellar transport particle B

Molecular Function

What the gene product does at the molecular level
  • protein binding
  • beta-tubulin binding
  • chromatin binding

Gene-Specific Assays for Results You Can Trust

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