IFT52 - intraflagellar transport 52 Gene
Also Known as NGD2; NGD5; CGI-53; C20orf9
Species: Homo sapiens (human)
Summary
This gene encodes a conserved proline-rich protein that is a component of the intraflagellar transport-B (IFT-B) core complex. The encoded protein is essential for the integrity of the IFT-B core complex, and for biosynthesis and maintenance of cilia. Mutations in this gene are associated with ciliopathy that affects the skeleton. [provided by RefSeq, Oct 2016]
IFT52 Products (1)
| mRNA | Protein | Name |
|---|---|---|
| NM_001323579.2 | NP_001310508.1 | intraflagellar transport protein 52 homolog isoform 5 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
31637240 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in cilium assembly |
IMP
IMP: Inferred from mutant phenotype
|
27466190 | GOA |
| involved in intraciliary anterograde transport |
IMP
IMP: Inferred from mutant phenotype
|
27466190 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in ciliary base |
IDA
IDA: Inferred from direct assay
|
31637240 | GOA |
| part of intraciliary transport particle B |
IPI
IPI: Inferred from physical interaction
|
26980730 | GOA |
| located in photoreceptor connecting cilium |
IDA
IDA: Inferred from direct assay
|
31637240 | GOA |
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
intraflagellar transport protein 52 homolog |
|