IFT140
entrez
9742
canonical
uniprot
Q96RY7
canonical
ensembl
ENSG00000187535
resolver
ensp
ENSP00000354895
resolver
ensp
ENSP00000406012
resolver
ensp
ENSP00000559229
resolver
ensp
ENSP00000632460
resolver
ensp
ENSP00000632461
resolver
ensp
ENSP00000703301
resolver
ensp
ENSP00000783188
resolver
genesymbol
IFT140
resolver
genesymbol_syn
KIAA0590
resolver
genesymbol_syn
WDTC2
resolver
hgnc
HGNC:29077
resolver
uniprot
A2A2A8
resolver
uniprot
D3DU75
resolver
uniprot
O60332
resolver
uniprot
Q9UG52
resolver
uniprot_entry
IF140_HUMAN
resolver
uniprot_sec
A2A2A8
resolver
uniprot_sec
D3DU75
resolver
uniprot_sec
O60332
resolver
uniprot_sec
Q9UG52
resolver
amino_acid_sequence
MALYYDHQIEAPDAAGSPSFISWHPVHPFLAVAYISTTSTGSVDIYLEQGECVPDTHVERPFRVASLCWHPTRLVLAVGWETGEVTVFNKQDKEQHTMPLTHTADITVLRWSPSGNCLLSGDRLGVLLLWRLDQRGRVQGTPLLKHEYGKHLTHCIFRLPPPGEDLVQLAKAAVSGDEKALDMFNWKKSSSGSLLKMGSHEGLLFFVSLMDGTVHYVDEKGKTTQVVSADSTIQMLFYMEKREALVVVTENLRLSLYTVPPEGKAEEVMKVKLSGKTGRRADIALIEGSLLVMAVGEAALRFWDIERGENYILSPDEKFGFEKGENMNCVCYCKVKGLLAAGTDRGRVAMWRKVPDFLGSPGAEGKDRWALQTPTELQGNITQIQWGSRKNLLAVNSVISVAILSERAMSSHFHQQVAAMQVSPSLLNVCFLSTGVAHSLRTDMHISGVFATKDAVAVWNGRQVAIFELSGAAIRSAGTFLCETPVLAMHEENVYTVESNRVQVRTWQGTVKQLLLFSETEGNPCFLDICGNFLVVGTDLAHFKSFDLSRREAKAHCSCRSLAELVPGVGGIASLRCSSSGSTISILPSKADNSPDSKICFYDVEMDTVTVFDFKTGQIDRRETLSFNEQETNKSHLFVDEGLKNYVPVNHFWDQSEPRLFVCEAVQETPRSQPQSANGQPQDGRAGPAADVLILSFFISEEHGFLLHESFPRPATSHSLLGMEVPYYYFTRKPEEADREDEVEPGCHHIPQMVSRRPLRDFVGLEDCDKATRDAMLHFSFFVTIGDMDEAFKSIKLIKSEAVWENMARMCVKTQRLDVAKVCLGNMGHARGARALREAEQEPELEARVAVLATQLGMLEDAEQLYRKCKRHDLLNKFYQAAGRWQEALQVAEHHDRVHLRSTYHRYAGHLEASADCSRALSYYEKSDTHRFEVPRMLSEDLPSLELYVNKMKDKTLWRWWAQYLESQGEMDAALHYYELARDHFSLVRIHCFQGNVQKAAQIANETGNLAASYHLARQYESQEEVGQAVHFYTRAQAFKNAIRLCKENGLDDQLMNLALLSSPEDMIEAARYYEEKGVQMDRAVMLYHKAGHFSKALELAFATQQFVALQLIAEDLDETSDPALLARCSDFFIEHSQYERAVELLLAARKYQEALQLCLGQNMSITEEMAEKMTVAKDSSDLPEESRRELLEQIADCCMRQGSYHLATKKYTQAGNKLKAMRALLKSGDTEKITFFASVSRQKEIYIMAANYLQSLDWRKEPEIMKNIIGFYTKGRALDLLAGFYDACAQVEIDEYQNYDKAHGALTEAYKCLAKAKAKSPLDQETRLAQLQSRMALVKRFIQARRTYTEDPKESIKQCELLLEEPDLDSTIRIGDVYGFLVEHYVRKEEYQTAYRFLEEMRRRLPLANMSYYVSPQAVDAVHRGLGLPLPRTVPEQVRHNSMEDARELDEEVVEEADDDP
uniprot
proteins
disease_involvement
DISEASE: Short-rib thoracic dysplasia 9 with or without polydactyly (SRTD9) [MIM:266920]: 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. SRTD9 is characterized by phalangeal cone-shaped epiphyses, chronic renal disease, nearly constant retinal dystrophy, and mild radiographic abnormality of the proximal femur. Occasional features include short stature, cerebellar ataxia, and hepatic fibrosis. {ECO:0000269|PubMed:22503633, ECO:0000269|PubMed:23418020, ECO:0000269|PubMed:28288023, ECO:0000269|PubMed:28724397, ECO:0000269|PubMed:29688594, ECO:0000269|PubMed:34596737, ECO:0000269|PubMed:35873489, ECO:0000269|PubMed:37628605}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Retinitis pigmentosa 80 (RP80) [MIM:617781]: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. RP80 inheritance is autosomal recessive. {ECO:0000269|PubMed:26216056, ECO:0000269|PubMed:26359340, ECO:0000269|PubMed:26968735, ECO:0000269|PubMed:29111861, ECO:0000269|PubMed:29688594, ECO:0000269|PubMed:36393898}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Polycystic kidney disease 9 (PKD9) [MIM:621164]: A form of polycystic kidney disease, a disorder characterized by progressive formation and enlargement of cysts in both kidneys, typically leading to end-stage renal disease in adult life. Cysts may also occur in other organs, particularly the liver. PKD9 is a mild form characterized by a slowly progressive renal disease with onset in adulthood. Affected individuals have limited renal insufficiency and end-stage renal disease is rare. PKD9 inheritance is autosomal dominant with incomplete, age-dependent penetrance. Oligogenic inheritance is observed in some families. {ECO:0000269|PubMed:34890546, ECO:0000269|PubMed:39136524}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.; DISEASE: Cranioectodermal dysplasia 5 (CED5) [MIM:621180]: A form of cranioectodermal dysplasia, a disorder primarily characterized by craniofacial, skeletal and ectodermal abnormalities. Clinical features include craniosynostosis, narrow rib cage, short limbs, brachydactyly, hypoplastic and widely spaced teeth, sparse hair, skin laxity and abnormal nails. Nephronophthisis leading to progressive renal failure, hepatic fibrosis, heart defects, and retinitis pigmentosa have also been described. CED5 inheritance is autosomal recessive. {ECO:0000269|PubMed:32007091, ECO:0000269|PubMed:35873489, ECO:0000269|PubMed:37628605}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Component of the IFT complex A (IFT-A), a complex required for retrograde ciliary transport and entry into cilia of G protein-coupled receptors (GPCRs) (PubMed:20889716, PubMed:22503633, PubMed:36775821). Plays a pivotal role in proper development and function of ciliated cells through its role in ciliogenesis and/or cilium maintenance (PubMed:22503633). Required for the development and maintenance of the outer segments of rod and cone photoreceptor cells. Plays a role in maintenance and the delivery of opsin to the outer segment of photoreceptor cells (By similarity). {ECO:0000250|UniProtKB:E9PY46, ECO:0000269|PubMed:20889716, ECO:0000269|PubMed:22503633, ECO:0000269|PubMed:28724397, ECO:0000269|PubMed:36775821}.
uniprot
proteins
mass_dalton
165193
uniprot
proteins
pubmed
11157797
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15616553
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20889716
uniprot
proteins
pubmed
22503633
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23418020
uniprot
proteins
pubmed
24009529
uniprot
proteins
pubmed
25860617
uniprot
proteins
pubmed
26216056
uniprot
proteins
pubmed
26359340
uniprot
proteins
pubmed
26968735
uniprot
proteins
pubmed
27932497
uniprot
proteins
pubmed
28288023
uniprot
proteins
pubmed
28724397
uniprot
proteins
pubmed
29111861
uniprot
proteins
pubmed
29220510
uniprot
proteins
pubmed
29688594
uniprot
proteins
pubmed
30929735
uniprot
proteins
pubmed
32007091
uniprot
proteins
pubmed
34596737
uniprot
proteins
pubmed
34890546
uniprot
proteins
pubmed
35873489
uniprot
proteins
pubmed
36393898
uniprot
proteins
pubmed
36775821
uniprot
proteins
pubmed
37628605
uniprot
proteins
pubmed
39136524
uniprot
proteins
pubmed
9628581
uniprot
proteins
sequence_length
1462
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium basal body {ECO:0000269|PubMed:22503633, ECO:0000269|PubMed:26968735}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:23418020}. Cell projection, cilium {ECO:0000269|PubMed:22503633, ECO:0000269|PubMed:26968735, ECO:0000269|PubMed:27932497}.
uniprot
proteins