BBS1_HUMAN
Source:
PM23856902
Marked as 'Membrane associated protein'
Confidence:
low (only semi-automatic identification from reviews)
Search PubMed for
(RBC AND this entry)
Gene names:
BBS1
, BBS2L2
Protein names and data:
BBS1_HUMAN
, Bardet-Biedl syndrome 1 protein
, BBS2-like protein 2
Lenght: 593 a.a.
Mass: 65083 Da
fasta formatted sequence
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. The BBSome complex, together with the LTZL1, controls SMO ciliary trafficking and contributes to the sonic hedgehog (SHH) pathway regulation. Required for proper BBSome complex assembly and its ciliary localization.
Disease:
( OMIM:
209900
209901
)
Note=Ciliary dysfunction leads to a broad spectrum of disorders, collectively termed ciliopathies. Overlapping clinical features include retinal degeneration, renal cystic disease, skeletal abnormalities, fibrosis of various organ, and a complex range of anatomical and functional defects of the central and peripheral nervous system. The ciliopathy range of diseases includes Meckel-Gruber syndrome, Bardet-Biedl syndrome, Joubert syndrome, nephronophtisis, Senior-Loken syndrome, and Jeune asphyxiating thoracic dystrophy among others. Single-locus allelism is insufficient to explain the variable penetrance and expressivity of such disorders, leading to the suggestion that variations across multiple sites of the ciliary proteome, including BBS1, influence the clinical outcome. Bardet-Biedl syndrome 1 (BBS1) [MIM:209900]: A syndrome characterized by usually severe pigmentary retinopathy, early- onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. 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. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location:
Cell projection, cilium membrane. Cytoplasm. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriolar satellite.
Tissue specificity:
Highly expressed in the kidney. Also found in fetal tissue, testis, retina, adipose tissue, heart, skeletal muscle and pancreas.
Genetic variants
35 - 35
H -> R (in BBS1). VAR_038880
53 - 53
K -> E (in BBS1). VAR_038881
148 - 148
D -> N (in BBS1; dbSNP:rs200688985). VAR_038882
200688985
160 - 160
R -> Q (in BBS1). VAR_038883
200 - 201
Missing (in BBS1). VAR_017214
206 - 206
L -> V (in a patient with Bardet-Biedl syndrome; dbSNP:rs146052054). VAR_066485
146052054
234 - 234
E -> K (in BBS1; dbSNP:rs35520756). VAR_017215
35520756
245 - 245
P -> L (in a patient with Bardet-Biedl syndrome). VAR_066486
305 - 305
G -> S (in BBS1). VAR_038884
330 - 330
I -> T (in BBS1). VAR_066278
389 - 389
Missing (in BBS1). VAR_038885
390 - 390
M -> R (in BBS1; dbSNP:rs113624356). VAR_017216
113624356
434 - 434
Y -> S (in BBS1). VAR_038886
503 - 503
L -> H (in BBS1). VAR_038887
518 - 518
L -> P (in BBS1). VAR_017217
518 - 518
L -> Q (in BBS1). VAR_038888
524 - 524
Missing (in BBS1). VAR_066279
559 - 559
G -> D (in a patient with Meckel-Gruber like syndrome also carrying L-753 in TTC21B and a variant in CC2D2A). VAR_065554
Database cross-references
UniProt:
Q8NFJ9
Ensembl:
ENST00000318312
MIM:
209900
MIM:
209901
neXtProt:
NX_Q8NFJ9
Antibodypedia:
Q8NFJ9
(may not find the protein thus also not any antibody)
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