IFT27
entrez
11020
canonical
uniprot
Q9BW83
canonical
ensembl
ENSG00000100360
resolver
ensp
ENSP00000343593
resolver
ensp
ENSP00000393541
resolver
ensp
ENSP00000586958
resolver
ensp
ENSP00000651719
resolver
genesymbol
IFT27
resolver
genesymbol_syn
RABL4
resolver
genesymbol_syn
RAYL
resolver
hgnc
HGNC:18626
resolver
uniprot
O60897
resolver
uniprot_entry
IFT27_HUMAN
resolver
uniprot_sec
O60897
resolver
amino_acid_sequence
MVKLAAKCILAGDPAVGKTALAQIFRSDGAHFQKSYTLTTGMDLVVKTVPVPDTGDSVELFIFDSAGKELFSEMLDKLWESPNVLCLVYDVTNEESFNNCSKWLEKARSQAPGISLPGVLVGNKTDLAGRRAVDSAEARAWALGQGLECFETSVKEMENFEAPFHCLAKQFHQLYREKVEVFRALA
uniprot
proteins
disease_involvement
DISEASE: Bardet-Biedl syndrome 19 (BBS19) [MIM:615996]: A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and intellectual disability. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease. {ECO:0000269|PubMed:24488770}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Small GTPase-like component of the intraflagellar transport (IFT) complex B that promotes the exit of the BBSome complex from cilia via its interaction with ARL6 (PubMed:25443296, PubMed:40384633). Not involved in entry of the BBSome complex into cilium. Prevents aggregation of GTP-free ARL6 (PubMed:25443296). Required for hedgehog signaling. Forms a subcomplex within the IFT complex B with IFT25. Its role in intraflagellar transport is mainly seen in tissues rich in ciliated cells such as kidney and testis. Essential for male fertility, spermiogenesis and sperm flagella formation. Plays a role in the early development of the kidney. May be involved in the regulation of ureteric bud initiation (By similarity). {ECO:0000250|UniProtKB:A8HN58, ECO:0000269|PubMed:25443296, ECO:0000269|PubMed:40384633}.
uniprot
proteins
mass_dalton
20480
uniprot
proteins
mutagenesis
MUTAGEN 19; /note="T->N: GDP-locked."; /evidence="ECO:0000269|PubMed:25443296"; MUTAGEN 68; /note="K->A: GTP-locked."; /evidence="ECO:0000269|PubMed:25443296
uniprot
proteins
protein_family
Rab family
uniprot
proteins
protein_family
Small GTPase superfamily
uniprot
proteins
pubmed
10591208
uniprot
proteins
pubmed
12529303
uniprot
proteins
pubmed
15461802
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
24488770
uniprot
proteins
pubmed
25443296
uniprot
proteins
pubmed
40384633
uniprot
proteins
sequence_length
186
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell projection, cilium {ECO:0000269|PubMed:25443296}. Cytoplasm {ECO:0000250|UniProtKB:Q9D0P8}. Cell projection, cilium, flagellum {ECO:0000250|UniProtKB:Q9D0P8}. Note=Localizes to the sperm flagellum. {ECO:0000250|UniProtKB:Q9D0P8}.
uniprot
proteins