IFT81
entrez
28981
canonical
uniprot
Q8WYA0
canonical
ensembl
ENSG00000122970
resolver
ensp
ENSP00000242591
resolver
ensp
ENSP00000355372
resolver
ensp
ENSP00000449718
resolver
ensp
ENSP00000639965
resolver
ensp
ENSP00000723546
resolver
genesymbol
IFT81
resolver
genesymbol_syn
CDV1
resolver
hgnc
HGNC:14313
resolver
uniprot
Q2YDY1
resolver
uniprot
Q8NB51
resolver
uniprot
Q9BSV2
resolver
uniprot
Q9UNY8
resolver
uniprot_entry
IFT81_HUMAN
resolver
uniprot_sec
Q2YDY1
resolver
uniprot_sec
Q8NB51
resolver
uniprot_sec
Q9BSV2
resolver
uniprot_sec
Q9UNY8
resolver
amino_acid_sequence
MSDQIKFIMDSLNKEPFRKNYNLITFDSLEPMQLLQVLSDVLAEIDPKQLVDIREEMPEQTAKRMLSLLGILKYKPSGNATDMSTFRQGLVIGSKPVIYPVLHWLLQRTNELKKRAYLARFLIKLEVPSEFLQDETVADTNKQYEELMEAFKTLHKEYEQLKISGFSTAEIRKDISAMEEEKDQLIKRVEHLKKRVETAQNHQWMLKIARQLRVEKEREEYLAQQKQEQKNQLFHAVQRLQRVQNQLKSMRQAAADAKPESLMKRLEEEIKFNLYMVTEKFPKELENKKKELHFLQKVVSEPAMGHSDLLELESKINEINTEINQLIEKKMMRNEPIEGKLSLYRQQASIISRKKEAKAEELQEAKEKLASLEREASVKRNQTREFDGTEVLKGDEFKRYVNKLRSKSTVFKKKHQIIAELKAEFGLLQRTEELLKQRHENIQQQLQTMEEKKGISGYSYTQEELERVSALKSEVDEMKGRTLDDMSEMVKKLYSLVSEKKSALASVIKELRQLRQKYQELTQECDEKKSQYDSCAAGLESNRSKLEQEVRRLREECLQEESRYHYTNCMIKNLEVQLRRATDEMKAYISSDQQEKRKAIREQYTKNTAEQENLGKKLREKQKVIRESHGPNMKQAKMWRDLEQLMECKKQCFLKQQSQTSIGQVIQEGGEDRLIL
uniprot
proteins
disease_involvement
DISEASE: Short-rib thoracic dysplasia 19 with or without polydactyly (SRTD19) [MIM:617895]: A form of short-rib thoracic dysplasia, a group of autosomal recessive ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. Polydactyly is variably present. Non-skeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of the disease are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life. Disease spectrum encompasses Ellis-van Creveld syndrome, asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino syndrome, and short rib-polydactyly syndrome. {ECO:0000269|PubMed:27666822}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Component of the intraflagellar transport (IFT) complex B: together with IFT74, forms a tubulin-binding module that specifically mediates transport of tubulin within the cilium. Binds tubulin via its CH (calponin-homology)-like region (PubMed:23990561). Required for ciliogenesis (PubMed:23990561, PubMed:27666822). Required for proper regulation of SHH signaling (PubMed:27666822). Plays an important role during spermatogenesis by modulating the assembly and elongation of the sperm flagella (By similarity). {ECO:0000250|UniProtKB:O35594, ECO:0000269|PubMed:23990561, ECO:0000269|PubMed:27666822}.
uniprot
proteins
mass_dalton
79746
uniprot
proteins
mutagenesis
MUTAGEN 73..75; /note="KYK->EYE: Abolishes tubulin-binding and impaired ciliogenesis; when associated with 113-E-E-114."; /evidence="ECO:0000269|PubMed:23990561"; MUTAGEN 113..114; /note="KK->EE: Abolishes tubulin-binding and impaired ciliogenesis; when associated with 73-E--E-75."; /evidence="ECO:0000269|PubMed:23990561
uniprot
proteins
post_translational_modification
PTM: Palmitoylated by ZDHC5. {ECO:0000250|UniProtKB:O35594}.
uniprot
proteins
protein_family
IFT81 family
uniprot
proteins
pubmed
11130971
uniprot
proteins
pubmed
12549821
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15955805
uniprot
proteins
pubmed
18088087
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
23990561
uniprot
proteins
pubmed
27666822
uniprot
proteins
pubmed
28428259
uniprot
proteins
pubmed
28625565
uniprot
proteins
pubmed
36606424
uniprot
proteins
sequence_length
676
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell projection, cilium {ECO:0000305|PubMed:23990561}. Cytoplasm {ECO:0000250|UniProtKB:O35594}. Cytoplasm, cytoskeleton, cilium basal body {ECO:0000269|PubMed:36606424}.
uniprot
proteins