IFT52
entrez
51098
canonical
uniprot
Q9Y366
canonical
ensembl
ENSG00000101052
resolver
ensp
ENSP00000362121
resolver
ensp
ENSP00000362130
resolver
ensp
ENSP00000541418
resolver
ensp
ENSP00000602958
resolver
ensp
ENSP00000602959
resolver
ensp
ENSP00000602961
resolver
enst
ENST00000373030
resolver
enst
ENST00000373039
resolver
enst
ENST00000932899
resolver
enst
ENST00000932900
resolver
enst
ENST00000932902
resolver
genesymbol
IFT52
resolver
genesymbol_syn
C20orf9
resolver
genesymbol_syn
NGD5
resolver
hgnc
HGNC:15901
resolver
uniprot
B3KMA1
resolver
uniprot
E1P5W9
resolver
uniprot
Q5H8Z0
resolver
uniprot
Q9H1G3
resolver
uniprot
Q9H1G4
resolver
uniprot
Q9H1H2
resolver
uniprot_entry
IFT52_HUMAN
resolver
uniprot_sec
B3KMA1
resolver
uniprot_sec
E1P5W9
resolver
uniprot_sec
Q5H8Z0
resolver
uniprot_sec
Q9H1G3
resolver
uniprot_sec
Q9H1G4
resolver
uniprot_sec
Q9H1H2
resolver
amino_acid_sequence
MEKELRSTILFNAYKKEIFTTNNGYKSMQKKLRSNWKIQSLKDEITSEKLNGVKLWITAGPREKFTAAEFEILKKYLDTGGDVFVMLGEGGESRFDTNINFLLEEYGIMVNNDAVVRNVYHKYFHPKEALVSSGVLNREISRAAGKAVPGIIDEESSGNNAQALTFVYPFGATLSVMKPAVAVLSTGSVCFPLNRPILAFYHSKNQGGKLAVLGSCHMFSDQYLDKEENSKIMDVVFQWLTTGDIHLNQIDAEDPEISDYMMLPYTATLSKRNRECLQESDEIPRDFTTLFDLSIFQLDTTSFHSVIEAHEQLNVKHEPLQLIQPQFETPLPTLQPAVFPPSFRELPPPPLELFDLDETFSSEKARLAQITNKCTEEDLEFYVRKCGDILGVTSKLPKDQQDAKHILEHVFFQVVEFKKLNQEHDIDTSETAFQNNF
uniprot
proteins
disease_involvement
DISEASE: Short-rib thoracic dysplasia 16 with or without polydactyly (SRTD16) [MIM:617102]: 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:26880018, ECO:0000269|PubMed:27466190}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Involved in ciliogenesis as part of a complex involved in intraflagellar transport (IFT), the bi-directional movement of particles required for the assembly, maintenance and functioning of primary cilia (PubMed:27466190). Required for the anterograde transport of IFT88 (PubMed:27466190). {ECO:0000269|PubMed:27466190}.
uniprot
proteins
mass_dalton
49706
uniprot
proteins
pubmed
10810093
uniprot
proteins
pubmed
11780052
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
25860617
uniprot
proteins
pubmed
26880018
uniprot
proteins
pubmed
27466190
uniprot
proteins
pubmed
30929735
uniprot
proteins
pubmed
31637240
uniprot
proteins
sequence_length
437
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell projection, cilium {ECO:0000250|UniProtKB:Q62559}.
uniprot
proteins