BBIP1
entrez
92482
canonical
uniprot
A8MTZ0
canonical
ensembl
ENSG00000214413
resolver
ensp
ENSP00000432274
resolver
ensp
ENSP00000432849
resolver
ensp
ENSP00000433157
resolver
ensp
ENSP00000436622
resolver
ensp
ENSP00000474675
resolver
ensp
ENSP00000498430
resolver
ensp
ENSP00000498552
resolver
genesymbol
BBIP1
resolver
genesymbol_syn
BBIP10
resolver
genesymbol_syn
NCRNA00081
resolver
hgnc
HGNC:28093
resolver
uniprot
E9PIY9
resolver
uniprot
E9PM41
resolver
uniprot
E9PRI7
resolver
uniprot_entry
BBIP1_HUMAN
resolver
uniprot_sec
E9PIY9
resolver
uniprot_sec
E9PM41
resolver
uniprot_sec
E9PRI7
resolver
amino_acid_sequence
MLKAAAKRPELSGKNTISNNSDMAEVKSMFREVLPKQGPLFVEDIMTMVLCKPKLLPLKSLTLEKLEKMHQAAQNTIRQQEMAEKDQRQITH
uniprot
proteins
disease_involvement
DISEASE: Bardet-Biedl syndrome 18 (BBS18) [MIM:615995]: 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:24026985}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: The BBSome complex is thought to function as a coat complex required for sorting of specific membrane proteins to the primary cilia. The BBSome complex is required for ciliogenesis but is dispensable for centriolar satellite function. This ciliogenic function is mediated in part by the Rab8 GDP/GTP exchange factor, which localizes to the basal body and contacts the BBSome. Rab8(GTP) enters the primary cilium and promotes extension of the ciliary membrane. Firstly the BBSome associates with the ciliary membrane and binds to RAB3IP/Rabin8, the guanosyl exchange factor (GEF) for Rab8 and then the Rab8-GTP localizes to the cilium and promotes docking and fusion of carrier vesicles to the base of the ciliary membrane. Required for primary cilia assembly and BBSome stability. Regulates cytoplasmic microtubule stability and acetylation. {ECO:0000269|Ref.4}.
uniprot
proteins
mass_dalton
10506
uniprot
proteins
protein_family
BBIP10 family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15164054
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
24026985
uniprot
proteins
sequence_length
92
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell projection, cilium {ECO:0000269|Ref.4}. Cytoplasm {ECO:0000269|Ref.4}. Note=Localizes inside the primary cilium but not at centriolar satellites.
uniprot
proteins