IFT43
entrez
112752
canonical
uniprot
Q96FT9
canonical
ensembl
ENSG00000119650
resolver
ensp
ENSP00000238628
resolver
ensp
ENSP00000324177
resolver
ensp
ENSP00000451096
resolver
genesymbol
IFT43
resolver
genesymbol_syn
C14orf179
resolver
hgnc
HGNC:29669
resolver
uniprot
B3KPT6
resolver
uniprot
B4DZI9
resolver
uniprot
G3V385
resolver
uniprot
O95418
resolver
uniprot
Q9ULA9
resolver
uniprot_entry
IFT43_HUMAN
resolver
uniprot_sec
B3KPT6
resolver
uniprot_sec
B4DZI9
resolver
uniprot_sec
G3V385
resolver
uniprot_sec
O95418
resolver
uniprot_sec
Q9ULA9
resolver
amino_acid_sequence
MEDLLDLDEELRYSLATSRAKMGRRAQQESAQAENHLNGKNSSLTLTGETSSAKLPRCRQGGWAGDSVKASKFRRKASEEIEDFRLRPQSLNGSDYGGDIPIIPDLEEVQEEDFVLQVAAPPSIQIKRVMTYRDLDNDLMKYSAIQTLDGEIDLKLLTKVLAPEHEVREDDVGWDWDHLFTEVSSEVLTEWDPLQTEKEDPAGQARHT
uniprot
proteins
disease_involvement
DISEASE: Cranioectodermal dysplasia 3 (CED3) [MIM:614099]: 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. {ECO:0000269|PubMed:21378380}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Retinitis pigmentosa 81 (RP81) [MIM:617871]: A form of retinitis pigmentosa, 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. RP81 inheritance is autosomal recessive. {ECO:0000269|PubMed:28973684}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Short-rib thoracic dysplasia 18 with polydactyly (SRTD18) [MIM:617866]: 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:28400947}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: As a component of IFT complex A (IFT-A), a complex required for retrograde ciliary transport and entry into cilia of G protein-coupled receptors (GPCRs), it is involved in ciliogenesis (PubMed:28400947, PubMed:28973684). Involved in retrograde ciliary transport along microtubules from the ciliary tip to the base (PubMed:21378380). {ECO:0000269|PubMed:21378380, ECO:0000269|PubMed:28400947, ECO:0000269|PubMed:28973684}.
uniprot
proteins
mass_dalton
23529
uniprot
proteins
protein_family
IFT43 family
uniprot
proteins
pubmed
12508121
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
19450523
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
20889716
uniprot
proteins
pubmed
21378380
uniprot
proteins
pubmed
22361696
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
27932497
uniprot
proteins
pubmed
28400947
uniprot
proteins
pubmed
28973684
uniprot
proteins
pubmed
29220510
uniprot
proteins
sequence_length
208
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000269|PubMed:22361696}. Cell projection, cilium {ECO:0000269|PubMed:27932497, ECO:0000269|PubMed:28973684}. Note=Associated with microtubules (PubMed:22361696). Localized at the distal tip of the cilium (PubMed:28973684). {ECO:0000269|PubMed:22361696, ECO:0000269|PubMed:28973684}.
uniprot
proteins