KIAA1549 Gene Summary [Human]
The protein encoded by this gene belongs to the UPF0606 family. This gene has been found to be fused to the BRAF oncogene in many cases of pilocytic astrocytoma. The fusion results from 2Mb tandem duplications at 7q34. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2012]
Details
| Type | Protein Coding |
| Official Symbol | KIAA1549 |
| Official Name | KIAA1549 [Source:HGNC Symbol;Acc:HGNC:22219] |
| Ensembl ID | ENSG00000122778 |
| Bio databases IDs | |
| Aliases | KIAA1549 |
| Synonyms | D630045J12Rik, KIAA1549 homolog, LOC286025, mKIAA1549, RGD1306271, RIKEN, RIKEN cDNA D630045J12 gene, RP86 |
| 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 KIAA1549 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Domain of unknown function (DUF3827)
- Family of unknown function (DUF5585)
- 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
- schizophrenia
- retinal dystrophy
- retinitis pigmentosa type 86
- nonalcoholic fatty liver disease
- astrocytoma
- glioma formation
- Hutchinson-Gilford progeria syndrome
- retinitis pigmentosa
regulated by
- SNX27
- Retromer
role in cell
- accumulation in
- accumulation
- morphology
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- connecting cilia
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human KIAA1549 gene, providing context for its role in the cell.
Cellular Component
Where in the cell the gene product is active
- photoreceptor connecting cilium
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- protein binding