UniProt:Q8IWZ6 BBS7

chain
  • chain:1-715
checksum A7856647969713FF
comment
  • 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.SUBUNIT Part of BBSome complex, that contains BBS1, BBS2, BBS4, BBS5, BBS7, BBS8/TTC8, BBS9 and BBIP10. Interacts with BBS2 (via C-terminus). Interacts with CCDC28B and ALDOB. Interacts with SMO; the interaction is indicative for the association of SMO with the BBsome complex to facilitate ciliary localization of SMO.INTERACTION Isoform 2 is ubiquitously expressed. Isoform 1 is expressed in retina, lung, liver, testis, ovary, prostate, small intestine, liver, brain, heart and pancreas.DISEASE 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 BBS7, influence the clinical outcome.DISEASE The disease is caused by variants affecting the gene represented in this entry.ONLINE INFORMATION Retina International's Scientific Newsletter
crossReference
databaseName UniProt
dbId 85829
description
  • recommendedName: Bardet-Biedl syndrome 7 protein alternativeName: BBS2-like protein 1
displayName UniProt:Q8IWZ6 BBS7
geneName
  • BBS7
  • BBS2L1
identifier Q8IWZ6
isSequenceChanged false
keyword
  • Acetylation
  • Alternative splicing
  • Bardet-Biedl syndrome
  • Cell membrane
  • Cell projection
  • Ciliopathy
  • Cilium
  • Cilium biogenesis/degradation
  • Cytoplasm
  • Cytoskeleton
  • Disease variant
  • Intellectual disability
  • Membrane
  • Obesity
  • Protein transport
  • Reference proteome
  • Sensory transduction
  • Transport
  • Vision
modified [InstanceEdit:12187927] Wright, Adam, 2024-03-12
name
  • BBS7
otherIdentifier
  • 11728609_a_at
  • 11728610_at
  • 11743080_at
  • 16979526
  • 219688_PM_at
  • 219688_at
  • 235007_PM_at
  • 235007_at
  • 2784126
  • 2784127
  • 2784128
  • 2784129
  • 2784130
  • 2784132
  • 2784133
  • 2784134
  • 2784135
  • 2784136
  • 2784137
  • 2784138
  • 2784139
  • 2784140
  • 2784142
  • 2784144
  • 2784146
  • 2784147
  • 2784148
  • 2784149
  • 2784150
  • 2784153
  • 2784154
  • 2784156
  • 2784159
  • 2784163
  • 2784164
  • 2784165
  • 2784168
  • 2784169
  • 47503_at
  • 55212
  • 64721_at
  • 79733_at
  • 8102655
  • A_23_P252913
  • A_24_P260361
  • GE82321
  • GO:0001654
  • GO:0001750
  • GO:0001947
  • GO:0005515
  • GO:0005634
  • GO:0005737
  • GO:0005813
  • GO:0005815
  • GO:0005829
  • GO:0005856
  • GO:0005886
  • GO:0005929
  • GO:0005930
  • GO:0006351
  • GO:0006355
  • GO:0006357
  • GO:0007224
  • GO:0007368
  • GO:0007420
  • GO:0007507
  • GO:0007601
  • GO:0008104
  • GO:0015031
  • GO:0016020
  • GO:0023052
  • GO:0030030
  • GO:0030154
  • GO:0030163
  • GO:0032402
  • GO:0032436
  • GO:0034451
  • GO:0034464
  • GO:0036064
  • GO:0042995
  • GO:0043005
  • GO:0043226
  • GO:0044782
  • GO:0045444
  • GO:0046907
  • GO:0048546
  • GO:0048856
  • GO:0050877
  • GO:0050896
  • GO:0051877
  • GO:0060170
  • GO:0060173
  • GO:0060271
  • GO:0061629
  • GO:1903929
  • GO:1905515
  • HMNXSV003006570
  • Hs.136182.0.A1_3p_at
  • ILMN_1703111
  • ILMN_1775012
  • ILMN_1776656
  • ILMN_2257833
  • ILMN_2377056
  • PH_hs_0003793
  • TC04001517.hg
  • g8922614_3p_at
physicalEntity
referenceDatabase [ReferenceDatabase:2] UniProt
referenceGene
referenceTranscript
schemaClass ReferenceGeneProduct
secondaryIdentifier
  • BBS7_HUMAN
  • Q4W5P8
  • Q8N581
  • Q9NVI4
sequenceLength 715
species [Species:48887] Homo sapiens
url https://purl.uniprot.org/uniprot/Q8IWZ6
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