| 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
|