IFT57
entrez
55081
canonical
uniprot
Q9NWB7
canonical
ensembl
ENSG00000114446
resolver
ensp
ENSP00000264538
resolver
enst
ENST00000264538
resolver
genesymbol
IFT57
resolver
genesymbol_syn
DERP8
resolver
genesymbol_syn
ESRRBL1
resolver
genesymbol_syn
HIPPI
resolver
hgnc
HGNC:17367
resolver
uniprot
Q96DA9
resolver
uniprot_entry
IFT57_HUMAN
resolver
uniprot_sec
Q96DA9
resolver
amino_acid_sequence
MTAALAVVTTSGLEDGVPRSRGEGTGEVVLERGPGAAYHMFVVMEDLVEKLKLLRYEEEFLRKSNLKAPSRHYFALPTNPGEQFYMFCTLAAWLINKAGRPFEQPQEYDDPNATISNILSELRSFGRTADFPPSKLKSGYGEHVCYVLDCFAEEALKYIGFTWKRPIYPVEELEEESVAEDDAELTLNKVDEEFVEEETDNEENFIDLNVLKAQTYHLDMNETAKQEDILESTTDAAEWSLEVERVLPQLKVTIRTDNKDWRIHVDQMHQHRSGIESALKETKGFLDKLHNEITRTLEKISSREKYINNQLENLVQEYRAAQAQLSEAKERYQQGNGGVTERTRLLSEVMEELEKVKQEMEEKGSSMTDGAPLVKIKQSLTKLKQETVEMDIRIGIVEHTLLQSKLKEKSNMTRNMHATVIPEPATGFY
uniprot
proteins
disease_involvement
DISEASE: Orofaciodigital syndrome 18 (OFD18) [MIM:617927]: A form of orofaciodigital syndrome, a group of heterogeneous disorders characterized by malformations of the oral cavity, face and digits, and associated phenotypic abnormalities that lead to the delineation of various subtypes. OFD18 is an autosomal recessive form characterized by short stature, brachymesophalangy, pre- and postaxial polysyndactyly, and stocky femoral necks, as well as oral anomalies and dysmorphic facial features. {ECO:0000269|PubMed:27060890}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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). 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. {ECO:0000250, ECO:0000269|PubMed:11788820, ECO:0000269|PubMed:17107665, ECO:0000269|PubMed:17623017, ECO:0000269|PubMed:26182404}.
uniprot
proteins
mass_dalton
49108
uniprot
proteins
mutagenesis
MUTAGEN 409; /note="K->D: Impairs the interaction with HIP1."; /evidence="ECO:0000269|PubMed:11788820
uniprot
proteins
protein_family
IFT57 family
uniprot
proteins
pubmed
11788820
uniprot
proteins
pubmed
12745083
uniprot
proteins
pubmed
14502241
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17107665
uniprot
proteins
pubmed
17173859
uniprot
proteins
pubmed
17623017
uniprot
proteins
pubmed
25860617
uniprot
proteins
pubmed
26182404
uniprot
proteins
pubmed
27060890
uniprot
proteins
pubmed
31637240
uniprot
proteins
sequence_length
429
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell projection, cilium {ECO:0000250|UniProtKB:Q8BXG3}. Cytoplasm, cytoskeleton, cilium basal body {ECO:0000250|UniProtKB:Q5EA95}. Note=Concentrates within the inner segment of cilia. {ECO:0000250}.
uniprot
proteins