IFT74
entrez
80173
canonical
uniprot
Q96LB3
canonical
ensembl
ENSG00000096872
resolver
ensp
ENSP00000369402
resolver
ensp
ENSP00000389224
resolver
ensp
ENSP00000393907
resolver
ensp
ENSP00000404122
resolver
ensp
ENSP00000795441
resolver
genesymbol
IFT74
resolver
genesymbol_syn
CCDC2
resolver
genesymbol_syn
CMG1
resolver
hgnc
HGNC:21424
resolver
uniprot
Q3B789
resolver
uniprot
Q5VY34
resolver
uniprot
Q6PGQ8
resolver
uniprot
Q9H643
resolver
uniprot
Q9H8G7
resolver
uniprot_entry
IFT74_HUMAN
resolver
uniprot_sec
Q3B789
resolver
uniprot_sec
Q5VY34
resolver
uniprot_sec
Q6PGQ8
resolver
uniprot_sec
Q9H643
resolver
uniprot_sec
Q9H8G7
resolver
amino_acid_sequence
MASNHKSSAARPVSRGGVGLTGRPPSGIRPLSGNIRVATAMPPGTARPGSRGCPIGTGGVLSSQIKVAHRPVTQQGLTGMKTGTKGPQRQILDKSYYLGLLRSKISELTTEVNKLQKGIEMYNQENSVYLSYEKRAETLAVEIKELQGQLADYNMLVDKLNTNTEMEEVMNDYNMLKAQNDRETQSLDVIFTERQAKEKQIRSVEEEIEQEKQATDDIIKNMSFENQVKYLEMKTTNEKLLQELDTLQQQLDSQNMKKESLEAEIAHSQVKQEAVLLHEKLYELESHRDQMIAEDKSIGSPMEEREKLLKQIKDDNQEIASMERQLTDTKEKINQFIEEIRQLDMDLEEHQGEMNQKYKELKKREEHMDTFIETFEETKNQELKRKAQIEANIVALLEHCSRNINRIEQISSITNQELKMMQDDLNFKSTEVQKSQSTAQNLTSDIQRLQLDLQKMELLESKMTEEQHSLKSKIKQMTTDLEIYNDLPALKSSGEEKIKKLHQERMILSTHRNAFKKIMEKQNIEYEALKTQLQENETHSQLTNLERKWQHLEQNNFAMKEFIATKSQESDYQPIKKNVTKQIAEYNKTIVDALHSTSGN
uniprot
proteins
disease_involvement
DISEASE: Bardet-Biedl syndrome 22 (BBS22) [MIM:617119]: A form of Bardet-Biedl syndrome, 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:27486776}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Joubert syndrome 40 (JBTS40) [MIM:619582]: A form of Joubert syndrome, a disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy, renal disease, liver fibrosis, and polydactyly. JBTS40 inheritance is autosomal recessive. {ECO:0000269|PubMed:33531668, ECO:0000269|PubMed:34539760}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Spermatogenic failure 58 (SPGF58) [MIM:619585]: An autosomal recessive male infertility disorder characterized by absent or severely reduced sperm motility, due to multiple morphological abnormalities of the sperm flagellum. {ECO:0000269|PubMed:33689014}. Note=The disease is caused by variants affecting the gene represented in this entry. A homozygous variant at codon 86 has been identified in 2 unrelated affected individuals. In addition to encoding a missense, this variant also affects splicing, predominantly through the induction of an in-frame deletion of 10 amino acids within exon 3. Other minor transcripts can be detected in patient's sperm that use cryptic donor sites present in intron 3, leading either to the retention of 18 bp of intron 3 and an in-frame insertion of 6 amino acids, or to the retention of 108 bp of intron 3, which induces a frameshift and a truncated protein. {ECO:0000269|PubMed:33689014}.
uniprot
proteins
function
FUNCTION: Component of the intraflagellar transport (IFT) complex B: together with IFT81, forms a tubulin-binding module that specifically mediates transport of tubulin within the cilium (PubMed:23990561). Binds beta-tubulin via its basic region (PubMed:23990561). Required for ciliogenesis (PubMed:23990561). Essential for flagellogenesis during spermatogenesis (PubMed:33689014). {ECO:0000269|PubMed:23990561, ECO:0000269|PubMed:33689014}.
uniprot
proteins
mass_dalton
69239
uniprot
proteins
protein_family
IFT74 family
uniprot
proteins
pubmed
11683410
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15024030
uniprot
proteins
pubmed
15164053
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15955805
uniprot
proteins
pubmed
23990561
uniprot
proteins
pubmed
24129315
uniprot
proteins
pubmed
24339792
uniprot
proteins
pubmed
27486776
uniprot
proteins
pubmed
28428259
uniprot
proteins
pubmed
28625565
uniprot
proteins
pubmed
33531668
uniprot
proteins
pubmed
33689014
uniprot
proteins
pubmed
34539760
uniprot
proteins
sequence_length
600
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell projection, cilium {ECO:0000269|PubMed:15024030}. Cytoplasmic vesicle {ECO:0000269|PubMed:11683410}. Cell projection, cilium, flagellum {ECO:0000269|PubMed:33689014}. Cytoplasmic vesicle, secretory vesicle, acrosome {ECO:0000250|UniProtKB:Q8BKE9}. Note=Localizes along primary cilia at interphase and around the basal body/centriole at interphase and mitosis (PubMed:15024030). In male germ cells, strongly expressed in the vesicles of spermatocytes and round spermatids and also in the acrosome and centrosome regions of elongating spermatids and in developing sperm tails (By similarity). {ECO:0000250|UniProtKB:Q8BKE9, ECO:0000269|PubMed:15024030}.
uniprot
proteins