Q8IWZ6 (BBS7_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified May 1, 2013. Version 94. History...
Names and origin
|Protein names||Recommended name:|
Bardet-Biedl syndrome 7 protein
BBS2-like protein 1
|Organism||Homo sapiens (Human) [Reference proteome]|
|Taxonomic identifier||9606 [NCBI]|
|Taxonomic lineage||Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo|
|Sequence length||715 AA.|
|Protein existence||Evidence at protein level|
General annotation (Comments)
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. Ref.6
Part of BBSome complex, that contains BBS1, BBS2, BBS4, BBS5, BBS7, BBS8, BBS9 and BBIP10. The BBSome complex binds to PCM1 and tubulin. Interacts with BBS2 (via C-terminus). Interacts with CCDC28B. Ref.5 Ref.6 Ref.7
|Involvement in 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.
Bardet-Biedl syndrome 7 (BBS7) [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.
|This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]|
|Isoform 1 (identifier: Q8IWZ6-1) |
Also known as: Long; lBBS2L1;
This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
|Isoform 2 (identifier: Q8IWZ6-2) |
Also known as: Short; sBBS2L1;
The sequence of this isoform differs from the canonical sequence as follows:
Sequence annotation (Features)
|Feature key||Position(s)||Length||Description||Graphical view||Feature identifier|
|Chain||1 – 715||715||Bardet-Biedl syndrome 7 protein||PRO_0000064846|
|Alternative sequence||673 – 715||43||Missing in isoform 2.||VSP_008850|
|Natural variant||63||1||G → R in BBS7. Ref.11||VAR_066286|
|Natural variant||66||1||I → F in BBS7. Ref.10||VAR_038893|
|Natural variant||211||1||T → I in BBS7. Ref.1 Ref.9||VAR_017212|
|Natural variant||293||1||Q → P Found in a patient with Bardet-Biedl syndrome also carrying a frameshift mutation in BBS10 and variant R-834 in KIF7. Ref.12||VAR_066459|
|Natural variant||323||1||H → R in BBS7. Ref.1||VAR_017213|
|Natural variant||671||1||Y → C in a patient with Meckel-Gruber like syndrome also carrying Y-60 in TTC21B. Ref.8||VAR_065555|
|Sequence conflict||469||1||Q → L in AAO16025. Ref.1|
|Sequence conflict||469||1||Q → L in AAO16026. Ref.1|
|Sequence conflict||469||1||Q → L in BAA91767. Ref.2|
|AF521643 mRNA. Translation: AAO16025.1.|
AF521644 mRNA. Translation: AAO16026.1.
AK001577 mRNA. Translation: BAA91767.1.
AC079341 Genomic DNA. Translation: AAY40970.1.
BC032691 mRNA. Translation: AAH32691.1.
|RefSeq||NP_060660.2. NM_018190.3. |
3D structure databases
Protein-protein interaction databases
|IntAct||Q8IWZ6. 26 interactions.|
Protocols and materials databases
Genome annotation databases
|Ensembl||ENST00000264499; ENSP00000264499; ENSG00000138686. |
ENST00000506636; ENSP00000423626; ENSG00000138686.
|UCSC||uc003ied.3. human. |
|HGNC||HGNC:18758. BBS7. |
|MIM||209900. phenotype. |
|Orphanet||110. Bardet-Biedl syndrome. |
Gene expression databases
|GermOnline||ENSG00000138686. Homo sapiens. |
Family and domain databases
|Gene3D||22.214.171.124. 2 hits. |
|InterPro||IPR016575. Bardet-Biedl_syndrome_7_prot. |
|PIRSF||PIRSF011091. BBS7. 1 hit. |
|SUPFAM||SSF50978. WD40_like. 1 hit. |
|Accession||Primary (citable) accession number: Q8IWZ6|
Secondary accession number(s): Q4W5P8, Q8N581, Q9NVI4
|Entry status||Reviewed (UniProtKB/Swiss-Prot)|
|Annotation program||Chordata Protein Annotation Program|
|Disclaimer||Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.|
|Human chromosome 4|
Human chromosome 4: entries, gene names and cross-references to MIM
|Human entries with polymorphisms or disease mutations|
List of human entries with polymorphisms or disease mutations
|Human polymorphisms and disease mutations|
Index of human polymorphisms and disease mutations
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot