INTU Gene Summary [Human]
Involved in embryonic digit morphogenesis; roof of mouth development; and tongue morphogenesis. Located in ciliary basal body and motile cilium. Implicated in asphyxiating thoracic dystrophy and orofaciodigital syndrome XVII. [provided by Alliance of Genome Resources, Apr 2022]
Details
| Type | Protein Coding |
| Official Symbol | INTU |
| Official Name | inturned planar cell polarity protein [Source:HGNC Symbol;Acc:HGNC:29239] |
| Ensembl ID | ENSG00000164066 |
| Bio databases IDs | |
| Aliases | inturned planar cell polarity protein, ciliogenesis and planar polarity effector complex subunit 4 |
| Synonyms | 9230116I04Rik, 9430087H23Rik, AC146980.3, CPLANE4, INT, inturned planar cell polarity protein, mKIAA1284, OFD17, PDZD6, PDZK6, SRTD20 |
| 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 INTU often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Intu longin-like domain 3
- protein binding
- cpPDZ_Deg_HtrA-like
- Intu longin-like domain 2
- First Longin domain of INTU, CCZ1 and HPS4
- phosphatidylinositol binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- cancer
- edema
- microphthalmia
- short rib-polydactyly syndrome
- orofaciodigital syndrome type 17
- short-rib thoracic dysplasia 20 with polydactyly
- epithelial cancer
- epithelial neoplasia
- hyperplasia
- skin basal cell carcinoma
regulated by
- lipopolysaccharide
- RNF217-AS1
- topotecan
role in cell
- expression in
- proliferation
- differentiation
- activation
- formation
- formation in
- assembly
- abnormal morphology
- ossification by
- processing in
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 transition zone
- intracellular membrane-bounded organelle
- cilia
- basal bodies
- centriole
- cytosol
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human INTU gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- neural tube development
- cilium morphogenesis
- limb development
- palate development
- nervous system development
- smoothened signaling pathway
- tongue morphogenesis
- spinal cord dorsal/ventral patterning
- motile cilium assembly
- regulation of smoothened signaling pathway
- embryonic digit morphogenesis
- cell division
- negative regulation of keratinocyte proliferation
- keratinocyte differentiation
- vesicle-mediated transport
- intraflagellar transport
- negative regulation of cell division
- establishment of planar polarity
- positive regulation of smoothened signaling pathway
- hair follicle morphogenesis
- protein localization to organelle
- regulation of ossification
Cellular Component
Where in the cell the gene product is active
- motile cilium
- cytoplasm
- cilium basal body
- centriole
- cilium
- ciliary transition zone
- cell surface
Molecular Function
What the gene product does at the molecular level
- protein binding