IFT56
entrez
79989
canonical
uniprot
A0AVF1
canonical
ensembl
ENSG00000105948
resolver
ensp
ENSP00000339135
resolver
ensp
ENSP00000410655
resolver
ensp
ENSP00000418788
resolver
ensp
ENSP00000419279
resolver
ensp
ENSP00000443253
resolver
ensp
ENSP00000539950
resolver
enst
ENST00000474035
resolver
enst
ENST00000495038
resolver
genesymbol
IFT56
resolver
genesymbol
TTC26
resolver
genesymbol_syn
FLJ12571
resolver
genesymbol_syn
TTC26
resolver
hgnc
HGNC:21882
resolver
uniprot
A4D1S3
resolver
uniprot
B7Z1H0
resolver
uniprot
B7Z2T3
resolver
uniprot
B7Z5M0
resolver
uniprot
C9J2N7
resolver
uniprot
F6PWE7
resolver
uniprot
F6VU12
resolver
uniprot
F8W724
resolver
uniprot
Q96CU4
resolver
uniprot
Q9H9S8
resolver
uniprot
Q9NTC0
resolver
uniprot_entry
B7Z1H0_HUMAN
resolver
uniprot_entry
B7Z2T3_HUMAN
resolver
uniprot_entry
F6PWE7_HUMAN
resolver
uniprot_entry
F6VU12_HUMAN
resolver
uniprot_entry
IFT56_HUMAN
resolver
uniprot_entry
Q96CU4_HUMAN
resolver
uniprot_sec
A4D1S3
resolver
uniprot_sec
B7Z5M0
resolver
uniprot_sec
C9J2N7
resolver
uniprot_sec
F8W724
resolver
uniprot_sec
Q9H9S8
resolver
uniprot_sec
Q9NTC0
resolver
amino_acid_sequence
MMLSRAKPAVGRGVQHTDKRKKKGRKIPKLEELLSKRDFTGAITLLEFKRHVGEEEEDTNLWIGYCAFHLGDYKRALEEYENATKEENCNSEVWVNLACTYFFLGMYKQAEAAGFKASKSRLQNRLLFHLAHKFNDEKKLMSFHQNLQDVTEDQLSLASIHYMRSHYQEAIDIYKRILLDNREYLALNVYVALCYYKLDYYDVSQEVLAVYLQQIPDSTIALNLKACNHFRLYNGRAAEAELKSLMDNASSSFEFAKELIRHNLVVFRGGEGALQVLPPLVDVIPEARLNLVIYYLRQDDVQEAYNLIKDLEPTTPQEYILKGVVNAALGQEMGSRDHMKIAQQFFQLVGGSASECDTIPGRQCMASCFFLLKQFDDVLIYLNSFKSYFYNDDIFNFNYAQAKAATGNTSEGEEAFLLIQSEKMKNDYIYLSWLARCYIMNKKPRLAWELYLKMETSGESFSLLQLIANDCYKMGQFYYSAKAFDVLERLDPNPEYWEGKRGACVGIFQMIIAGREPKETLREVLHLLRSTGNTQVEYMIRIMKKWAKENRVSI
uniprot
proteins
disease_involvement
DISEASE: Biliary, renal, neurologic, and skeletal syndrome (BRENS) [MIM:619534]: An autosomal recessive ciliopathy with multisystemic manifestations including severe neonatal cholestasis that progresses to liver fibrosis and cirrhosis, postaxial polydactyly, hydrocephalus, retinal abnormalities, and situs inversus. Additional features may include congenital cardiac defects, echogenic kidneys with renal failure, ocular abnormalities, joint hyperextensibility, and dysmorphic facial features. Some patients have global developmental delay. Brain imaging typically shows dilated ventricles, hypomyelination, and white matter abnormalities, although some patients have been described with abnormal pituitary development. {ECO:0000269|PubMed:31595528, ECO:0000269|PubMed:32617964}. 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 required for transport of proteins in the motile cilium. Required for transport of specific ciliary cargo proteins related to motility, while it is neither required for IFT complex B assembly or motion nor for cilium assembly. Required for efficient coupling between the accumulation of GLI2 and GLI3 at the ciliary tips and their dissociation from the negative regulator SUFU. Plays a key role in maintaining the integrity of the IFT complex B and the proper ciliary localization of the IFT complex B components. Not required for IFT complex A ciliary localization or function. Essential for maintaining proper microtubule organization within the ciliary axoneme. {ECO:0000269|PubMed:31595528}.
uniprot
proteins
mass_dalton
64178
uniprot
proteins
protein_family
IFT56 family
uniprot
proteins
pubmed
12690205
uniprot
proteins
pubmed
12853948
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
31595528
uniprot
proteins
pubmed
32617964
uniprot
proteins
sequence_length
554
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell projection, cilium {ECO:0000250|UniProtKB:Q8BS45}. Note=Localizes at the base to the ciliary transition zone. {ECO:0000250|UniProtKB:Q8BS45}.
uniprot
proteins