IFT80
entrez
57560
canonical
uniprot
Q9P2H3
canonical
ensembl
ENSG00000068885
resolver
ensp
ENSP00000312778
resolver
ensp
ENSP00000418196
resolver
ensp
ENSP00000420646
resolver
genesymbol
IFT80
resolver
genesymbol_syn
KIAA1374
resolver
genesymbol_syn
WDR56
resolver
hgnc
HGNC:29262
resolver
uniprot
B4E0K1
resolver
uniprot
C9J8I0
resolver
uniprot
Q3MJC4
resolver
uniprot
Q86YF4
resolver
uniprot
Q9UIX1
resolver
uniprot_entry
IFT80_HUMAN
resolver
uniprot_sec
B4E0K1
resolver
uniprot_sec
C9J8I0
resolver
uniprot_sec
Q3MJC4
resolver
uniprot_sec
Q86YF4
resolver
uniprot_sec
Q9UIX1
resolver
amino_acid_sequence
MRLKISLLKEPKHQELVSCVGWTTAEELYSCSDDHQIVKWNLLTSETTQIVKLPDDIYPIDFHWFPKSLGVKKQTQAESFVLTSSDGKFHLISKLGRVEKSVEAHCGAVLAGRWNYEGTALVTVGEDGQIKIWSKTGMLRSTLAQQGTPVYSVAWGPDSEKVLYTAGKQLIIKPLQPNAKVLQWKAHDGIILKVDWNSVNDLILSAGEDCKYKVWDSYGRPLYNSQPHEHPITSVAWAPDGELFAVGSFHTLRLCDKTGWSYALEKPNTGSIFNIAWSIDGTQIAGACGNGHVVFAHVVEQHWEWKNFQVTLTKRRAMQVRNVLNDAVDLLEFRDRVIKASLNYAHLVVSTSLQCYVFSTKNWNTPIIFDLKEGTVSLILQAERHFLLVDGSSIYLYSYEGRFISSPKFPGMRTDILNAQTVSLSNDTIAIRDKADEKIIFLFEASTGKPLGDGKFLSHKNEILEIALDQKGLTNDRKIAFIDKNRDLCITSVKRFGKEEQIIKLGTMVHTLAWNDTCNILCGLQDTRFIVWYYPNTVYVDRDILPKTLYERDASEFSKNPHIVSFVGNQVTIRRADGSLVHISITPYPAILHEYVSSSKWEDAVRLCRFVKEQTMWACLAAMAVANRDMTTAEIAYAAIGEIDKVQYINSIKNLPSKESKMAHILLFSGNIQEAEIVLLQAGLVYQAIQININLYNWERALELAVKYKTHVDTVLAYRQKFLETFGKQETNKRYLHYAEGLQIDWEKIKAKIEMEITKEREQSSSSQSSKSIGLKP
uniprot
proteins
disease_involvement
DISEASE: Short-rib thoracic dysplasia 2 with or without polydactyly (SRTD2) [MIM:611263]: 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:17468754}. 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, which is essential for the development and maintenance of motile and sensory cilia. {ECO:0000269|PubMed:17468754}.
uniprot
proteins
mass_dalton
88035
uniprot
proteins
pubmed
10718198
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16641997
uniprot
proteins
pubmed
17468754
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18601909
uniprot
proteins
sequence_length
777
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm. Cytoplasm, cytoskeleton, cilium basal body {ECO:0000250}. Cytoplasm, cytoskeleton, cilium axoneme {ECO:0000250}. Note=Basal body and ciliary axoneme. {ECO:0000250}.
uniprot
proteins