| Gene Symbol | IFT57 |
|---|---|
| Entrez Gene | 55081 |
| Alt Symbol | ESRRBL1, HIPPI, MHS4R2 |
| Species | Human |
| Gene Type | protein-coding |
| Description | intraflagellar transport 57 |
| Other Description | HIP1 protein interactor|HIP1-interacting protein|dermal papilla-derived protein 8|estrogen-related receptor beta like 1|estrogen-related receptor beta-like protein 1|huntingtin interacting protein-1 interacting protein|intraflagellar transport 57 homolog|intraflagellar transport protein 57 homolog |
| Swissprots | Q96DA9 Q9NWB7 |
| Accessions | EAW79730 Q9NWB7 AB014762 BAB87803 AF139576 AAK13588 AF245220 AAK28373 AK001009 BAA91466 AK298854 BAG60977 BC009690 AAH09690 BC011899 AAH11899 CR457251 CAG33532 DA362330 DQ893050 ABM83976 DQ896298 ABM87297 NM_018010 NP_060480 |
| Function | Required for the formation of cilia. Plays an indirect role in sonic hedgehog signaling, cilia being required for all activity of the hedgehog pathway (By similarity). Has pro- apoptotic function via its interaction with HIP1, leading to recruit caspase-8 (CASP8) and trigger apoptosis. Has the ability to bind DNA sequence motif 5'-AAAGACATG-3' present in the promoter of caspase genes such as CASP1, CASP8 and CASP10, suggesting that it may act as a transcription regulator; however the relevance of such function remains unclear. {ECO:0000250, ECO:0000269|PubMed:11788820, ECO:0000269|PubMed:17107665, ECO:0000269|PubMed:17623017}. |
| Subcellular Location | Cytoplasm, cytoskeleton, cilium basal body {ECO:0000250}. Note=Concentrates within the inner segment of cilia. {ECO:0000250}. |
| Tissue Specificity | Present in many tissues such as brain, thymus, lymph node, lung, liver, skin and kidney (at protein level). {ECO:0000269|PubMed:11788820}. |
| Top Pathways | Huntington's disease |