IFT57 Gene Summary [Human]
Predicted to enable DNA binding activity. Acts upstream of or within activation of cysteine-type endopeptidase activity involved in apoptotic process; apoptotic process; and regulation of apoptotic process. Predicted to be located in ciliary basal body. Predicted to be part of axoneme and intraciliary transport particle B. Predicted to be active in Golgi apparatus; centrosome; and cilium. Implicated in orofaciodigital syndrome. [provided by Alliance of Genome Resources, Apr 2022]
Details
| Type | Protein Coding |
| Official Symbol | IFT57 |
| Official Name | intraflagellar transport 57 [Source:HGNC Symbol;Acc:HGNC:17367] |
| Ensembl ID | ENSG00000114446 |
| Bio databases IDs | |
| Aliases | intraflagellar transport 57 |
| Synonyms | 4833420A15Rik, ESRRBL1, HIPPI, intraflagellar transport 57, MHS4R2, OFD18 |
| 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 IFT57 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Intra-flagellar transport protein 57
- death effector domain-like
- myosin homology domain
- protein binding
Pathways
Biological processes and signaling networks where the IFT57 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
- insomnia
- edema
- growth failure
- exencephaly
- hypotelorism
- orofaciodigital syndrome type 18
- metabolic syndrome X
- polydactyly
role in cell
- activation in
- cell death
- expression in
- apoptosis
- proliferation
- fragmentation in
- fragmentation
- quantity
- molecular cleavage in
- 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 tip
- Cytoplasm
- cilia
- Nucleus
- basal bodies
- centrosome
- Golgi Apparatus
- axonemes
- connecting cilia
- primary cilia
- cis face of the Golgi apparatus
- perinuclear space
- Golgi cisternae
- dendrites
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human IFT57 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- keratinocyte proliferation
- cilium morphogenesis
- smoothened signaling pathway
- regulation of apoptotic process
- motile cilium assembly
- negative regulation of keratinocyte proliferation
- neural tube closure
- intraflagellar transport
- apoptotic process
- heart looping
- activation of cysteine-type endopeptidase activity involved in apoptotic process
- intraflagellar anterograde transport
Cellular Component
Where in the cell the gene product is active
- dendrite terminus
- photoreceptor connecting cilium
- centrosome
- cilium basal body
- cilium
- intraflagellar transport particle B
- Golgi apparatus
- axoneme
Molecular Function
What the gene product does at the molecular level
- DNA binding
- protein binding