intraflagellar transport 57
Annotations refreshed 9 hours ago.
Diagnostic Grade (Green)
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomalBardet Biedl syndrome
BIALLELIC, autosomal or pseudoautosomalLimb disorders
BIALLELIC, autosomal or pseudoautosomalorofaciodigital syndrome 18
Bardet-Biedl syndrome
hypothyroidism
orofaciodigital syndrome
smoking cessation
nutritional deficiency disease
neurodegenerative disease
mixed connective tissue disease
ciliopathy
smoking initiation
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Intraflagellar transport protein 57 homolog
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). Together with RAB23 and KIF17, it is required for the localization of specific G protein-coupled receptors, such as dopamime receptor DRD1, to primary cilia (PubMed:26182404). 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
IFT57 · Q9NWB7
Mean pLDDT
76.4/ 100
Confident
429 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
