IQCB1
entrez
9657
canonical
uniprot
Q15051
canonical
ensembl
ENSG00000173226
resolver
ensp
ENSP00000311505
resolver
ensp
ENSP00000323756
resolver
ensp
ENSP00000712613
resolver
ensp
ENSP00000712616
resolver
ensp
ENSP00000712618
resolver
ensp
ENSP00000732503
resolver
genesymbol
IQCB1
resolver
genesymbol_syn
KIAA0036
resolver
genesymbol_syn
NPHP5
resolver
hgnc
HGNC:28949
resolver
uniprot
Q3KS08
resolver
uniprot
Q3KS09
resolver
uniprot
Q5DKQ7
resolver
uniprot
Q8NI79
resolver
uniprot
Q9BS08
resolver
uniprot_entry
IQCB1_HUMAN
resolver
uniprot_sec
Q3KS08
resolver
uniprot_sec
Q3KS09
resolver
uniprot_sec
Q5DKQ7
resolver
uniprot_sec
Q8NI79
resolver
uniprot_sec
Q9BS08
resolver
amino_acid_sequence
MKPTGTDPRILSIAAEVAKSPEQNVPVILLKLKEIINITPLGSSELKKIKQDIYCYDLIQYCLLVLSQDYSRIQGGWTTISQLTQILSHCCVGLEPGEDAEEFYNELLPSAAENFLVLGRQLQTCFINAAKAEEKDELLHFFQIVTDSLFWLLGGHVELIQNVLQSDHFLHLLQADNVQIGSAVMMMLQNILQINSGDLLRIGRKALYSILDEVIFKLFSTPSPVIRSTATKLLLLMAESHQEILILLRQSTCYKGLRRLLSKQETGTEFSQELRQLVGLLSPMVYQEVEEQKLHQAACLIQAYWKGFQTRKRLKKLPSAVIALQRSFRSKRSKMLLEINRQKEEEDLKLQLQLQRQRAMRLSRELQLSMLEIVHPGQVEKHYREMEEKSALIIQKHWRGYRERKNFHQQRQSLIEYKAAVTLQRAALKFLAKCRKKKKLFAPWRGLQELTDARRVELKKRVDDYVRRHLGSPMSDVVSRELHAQAQERLQHYFMGRALEERAQQHREALIAQISTNVEQLMKAPSLKEAEGKEPELFLSRSRPVAAKAKQAHLTTLKHIQAPWWKKLGEESGDEIDVPKDELSIELENLFIGGTKPP
uniprot
proteins
disease_involvement
DISEASE: Senior-Loken syndrome 5 (SLSN5) [MIM:609254]: A renal-retinal disorder characterized by progressive wasting of the filtering unit of the kidney (nephronophthisis), with or without medullary cystic renal disease, and progressive eye disease. Typically this disorder becomes apparent during the first year of life. {ECO:0000269|PubMed:15723066}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Leber congenital amaurosis 10 (LCA10) [MIM:611755]: A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus. {ECO:0000269|PubMed:23446637}. Note=The gene represented in this entry may be involved in disease pathogenesis.
uniprot
proteins
function
FUNCTION: Involved in ciliogenesis. The function in an early step in cilia formation depends on its association with CEP290/NPHP6 (PubMed:21565611, PubMed:23446637). Involved in regulation of the BBSome complex integrity, specifically for presence of BBS2 and BBS5 in the complex, and in ciliary targeting of selected BBSome cargos. May play a role in controlling entry of the BBSome complex to cilia possibly implicating CEP290/NPHP6 (PubMed:25552655). {ECO:0000269|PubMed:23446637, ECO:0000269|PubMed:25552655}.
uniprot
proteins
mass_dalton
68929
uniprot
proteins
mutagenesis
MUTAGEN 549; /note="A->K: Disrupts interaction with CEP290, no effect on interaction with BBS1, BBS2, BBS4, BBS8 and BBS9, abolishes ciliogenesis."; /evidence="ECO:0000269|PubMed:23446637, ECO:0000269|PubMed:25552655
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15723066
uniprot
proteins
pubmed
16322217
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
18723859
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21565611
uniprot
proteins
pubmed
23446637
uniprot
proteins
pubmed
25552655
uniprot
proteins
pubmed
7584026
uniprot
proteins
sequence_length
598
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:21565611}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole {ECO:0000269|PubMed:23446637}. Note=Localization to the centrosome depends on the interaction with CEP290/NPHP6.
uniprot
proteins