Q8NFJ9 (BBS1_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 86.
History...
Names·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Bardet-Biedl syndrome 1 protein Alternative name(s): BBS2-like protein 2 | ||||
| Gene names |
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| 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![]() |
Protein attributes
| Sequence length | 593 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | 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.5 |
| Subunit structure | 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 the C-terminus of RAB3IP. Interacts with CCDC28B. Ref.4 Ref.5 |
| Subcellular location | Cell projection › cilium membrane. Cytoplasm. Note: Localizes to nonmembranous centriolar satellites in the cytoplasm. Ref.5 |
| Tissue specificity | Highly expressed in the kidney. Also found in fetal tissue, testis, retina, adipose tissue, heart, skeletal muscle and pancreas. |
| 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 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. |
Ontologies
Binary interactions
With | Entry | #Exp. | IntAct | Notes |
|---|---|---|---|---|
| ALDOB | P05062 | 4 | EBI-1805484,EBI-1045507 | |
| ARL6 | Q9H0F7 | 4 | EBI-1805484,EBI-2891949 | |
| BBS2 | Q9BXC9 | 6 | EBI-1805484,EBI-748297 | |
| BBS4 | Q96RK4 | 5 | EBI-1805484,EBI-1805814 | |
| BBS7 | Q8IWZ6 | 6 | EBI-1805484,EBI-1806001 | |
| BBS9 | Q3SYG4 | 6 | EBI-1805484,EBI-2826852 | |
| EEF1A1 | P68104 | 3 | EBI-1805484,EBI-352162 | |
| Lepr | P48356-1 | 3 | EBI-1805484,EBI-6143588 | From a different organism. |
| PCM1 | Q15154 | 2 | EBI-1805484,EBI-741421 | |
| RAB3IP | Q96QF0-1 | 2 | EBI-1805484,EBI-747860 |
Alternative products
| This entry describes 2 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q8NFJ9-1) 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 3 (identifier: Q8NFJ9-2) Also known as: DPP3-BBS1; The sequence of this isoform differs from the canonical sequence as follows: 1-16: MAAASSSDSDACGAES → MDPSWRRSSHSWPQPMPDSGRAPVRPHLAKLEEDVWPCPQFHQTKAASGPPFV | ||||||
| Note: Based on a readthrough transcript which may produce a DPP3-BBS1 fusion protein. No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 593 | 593 | Bardet-Biedl syndrome 1 protein | PRO_0000064841 | |||||
Natural variations | |||||||||
| Alternative sequence | 1 – 16 | 16 | MAAAS…CGAES → MDPSWRRSSHSWPQPMPDSG RAPVRPHLAKLEEDVWPCPQ FHQTKAASGPPFV in isoform 3. | VSP_008854 | |||||
| Natural variant | 35 | 1 | H → R in BBS1. Ref.9 | VAR_038880 | |||||
| Natural variant | 53 | 1 | K → E in BBS1. Ref.9 | VAR_038881 | |||||
| Natural variant | 148 | 1 | D → N in BBS1. Ref.9 | VAR_038882 | |||||
| Natural variant | 160 | 1 | R → Q in BBS1. Ref.11 Ref.13 | VAR_038883 | |||||
| Natural variant | 200 – 201 | 2 | Missing in BBS1. | VAR_017214 | |||||
| Natural variant | 206 | 1 | L → V in a patient with Bardet-Biedl syndrome. Ref.12 | VAR_066485 | |||||
| Natural variant | 234 | 1 | E → K in BBS1. Ref.8 Ref.9 Corresponds to variant rs35520756 [ dbSNP | Ensembl ]. | VAR_017215 | |||||
| Natural variant | 245 | 1 | P → L in a patient with Bardet-Biedl syndrome. Ref.12 | VAR_066486 | |||||
| Natural variant | 305 | 1 | G → S in BBS1. Ref.9 | VAR_038884 | |||||
| Natural variant | 330 | 1 | I → T in BBS1. Ref.13 | VAR_066278 | |||||
| Natural variant | 389 | 1 | Missing in BBS1. Ref.9 | VAR_038885 | |||||
| Natural variant | 390 | 1 | M → R in BBS1. Ref.1 Ref.7 Ref.9 Ref.10 Ref.11 Ref.12 Ref.13 | VAR_017216 | |||||
| Natural variant | 434 | 1 | Y → S in BBS1. Ref.9 | VAR_038886 | |||||
| Natural variant | 503 | 1 | L → H in BBS1. Ref.9 | VAR_038887 | |||||
| Natural variant | 518 | 1 | L → P in BBS1. Ref.7 Ref.10 | VAR_017217 | |||||
| Natural variant | 518 | 1 | L → Q in BBS1. Ref.9 | VAR_038888 | |||||
| Natural variant | 524 | 1 | Missing in BBS1. Ref.13 | VAR_066279 | |||||
| Natural variant | 559 | 1 | G → D in a patient with Meckel-Gruber like syndrome also carrying L-753 in TTC21B and a variant in CC2D2A. Ref.6 | VAR_065554 | |||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome." Mykytyn K., Nishimura D.Y., Searby C.C., Shastri M., Yen H., Beck J.S., Braun T., Streb L.M., Cornier A.S., Cox G.F., Fulton A.B., Carmi R., Lueleci G., Chandrasekharappa S.C., Collins F.S., Jacobson S.G., Heckenlively J.R., Weleber R.G., Stone E.M., Sheffield V.C. Nat. Genet. 31:435-438(2002) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT BBS1 ARG-390. |
| [2] | "Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. Sugano S.Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3). |
| [3] | "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). |
| [4] | "Dissection of epistasis in oligogenic Bardet-Biedl syndrome." Badano J.L., Leitch C.C., Ansley S.J., May-Simera H., Lawson S., Lewis R.A., Beales P.L., Dietz H.C., Fisher S., Katsanis N. Nature 439:326-330(2006) [PubMed] [Europe PMC] [Abstract] Cited for: INTERACTION WITH CCDC28B. |
| [5] | "A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis." Nachury M.V., Loktev A.V., Zhang Q., Westlake C.J., Peraenen J., Merdes A., Slusarski D.C., Scheller R.H., Bazan J.F., Sheffield V.C., Jackson P.K. Cell 129:1201-1213(2007) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY, SUBUNIT, FUNCTION, SUBCELLULAR LOCATION, INTERACTION WITH RAB3IP. |
| [6] | "TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum." Davis E.E., Zhang Q., Liu Q., Diplas B.H., Davey L.M., Hartley J., Stoetzel C., Szymanska K., Ramaswami G., Logan C.V., Muzny D.M., Young A.C., Wheeler D.A., Cruz P., Morgan M., Lewis L.R., Cherukuri P., Maskeri B. Katsanis N.Nat. Genet. 43:189-196(2011) [PubMed] [Europe PMC] [Abstract] Cited for: INVOLVEMENT IN CILIOPATHIES, VARIANT ASP-559. |
| [7] | "Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1)." Mykytyn K., Nishimura D.Y., Searby C.C., Beck G., Bugge K., Haines H.L., Cornier A.S., Cox G.F., Fulton A.B., Carmi R., Iannaccone A., Jacobson S.G., Weleber R.G., Wright A.F., Riise R., Hennekam R.C.M., Lueleci G., Berker-Karauzum S. Sheffield V.C.Am. J. Hum. Genet. 72:429-437(2003) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS BBS1 200-ILE-THR-201 DEL; ARG-390 AND PRO-518. |
| [8] | "Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2." Badano J.L., Ansley S.J., Leitch C.C., Lewis R.A., Lupski J.R., Katsanis N. Am. J. Hum. Genet. 72:650-658(2003) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT BBS1 LYS-234. |
| [9] | "Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome." Beales P.L., Badano J.L., Ross A.J., Ansley S.J., Hoskins B.E., Kirsten B., Mein C.A., Froguel P., Scambler P.J., Lewis R.A., Lupski J.R., Katsanis N. Am. J. Hum. Genet. 72:1187-1199(2003) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS BBS1 ARG-35; GLU-53; ASN-148; LYS-234; SER-305; ILE-389 DEL; ARG-390; SER-434 HIS-503 AND GLN-518. |
| [10] | "Further support for digenic inheritance in Bardet-Biedl syndrome." Fauser S., Munz M., Besch D. J. Med. Genet. 40:E104-E104(2003) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS BBS1 ARG-390 AND PRO-518. |
| [11] | "Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort." Hichri H., Stoetzel C., Laurier V., Caron S., Sigaudy S., Sarda P., Hamel C., Martin-Coignard D., Gilles M., Leheup B., Holder M., Kaplan J., Bitoun P., Lacombe D., Verloes A., Bonneau D., Perrin-Schmitt F., Brandt C. Dollfus H.Eur. J. Hum. Genet. 13:607-616(2005) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS BBS1 GLN-160 AND ARG-390. |
| [12] | "Mutation analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals." Janssen S., Ramaswami G., Davis E.E., Hurd T., Airik R., Kasanuki J.M., Van Der Kraak L., Allen S.J., Beales P.L., Katsanis N., Otto E.A., Hildebrandt F. Hum. Genet. 129:79-90(2011) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS VAL-206 AND LEU-245, VARIANT BBS1 ARG-390. |
| [13] | "BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition." Deveault C., Billingsley G., Duncan J.L., Bin J., Theal R., Vincent A., Fieggen K.J., Gerth C., Noordeh N., Traboulsi E.I., Fishman G.A., Chitayat D., Knueppel T., Millan J.M., Munier F.L., Kennedy D., Jacobson S.G., Innes A.M. Heon E.Hum. Mutat. 32:610-619(2011) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS BBS1 GLN-160; THR-330; ARG-390 AND ASN-524 DEL. |
| + | Additional computationally mapped references. |
Web resources
| Mutations of the BBS1 gene Retina International's Scientific Newsletter |
| GeneReviews |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AF503941 mRNA. Translation: AAM92770.1. AK027645 mRNA. Translation: BAB55261.1. BC109064 mRNA. Translation: AAI09065.1. |
| IPI | IPI00045840. IPI00334007. |
| RefSeq | NP_078925.3. NM_024649.4. |
| UniGene | Hs.502915. |
3D structure databases | |
| ProteinModelPortal | Q8NFJ9. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q8NFJ9. 30 interactions. |
| STRING | 9606.ENSP00000353701. |
PTM databases | |
| PhosphoSite | Q8NFJ9. |
Polymorphism databases | |
| DMDM | 38257662. |
Proteomic databases | |
| PaxDb | Q8NFJ9. |
| PRIDE | Q8NFJ9. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000318312; ENSP00000317469; ENSG00000174483. |
| GeneID | 582. |
| KEGG | hsa:582. |
| UCSC | uc001oii.1. human. uc001oij.1. human. |
Organism-specific databases | |
| CTD | 582. |
| GeneCards | GC11P066276. |
| HGNC | HGNC:966. BBS1. |
| MIM | 209900. phenotype. 209901. gene. |
| neXtProt | NX_Q8NFJ9. |
| Orphanet | 110. Bardet-Biedl syndrome. |
| PharmGKB | PA25275. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | NOG84787. |
| HOGENOM | HOG000260890. |
| HOVERGEN | HBG045407. |
| InParanoid | Q8NFJ9. |
| KO | K16746. |
| OMA | SCLVIGT. |
Gene expression databases | |
| ArrayExpress | Q8NFJ9. |
| Bgee | Q8NFJ9. |
| CleanEx | HS_BBS1. |
| Genevestigator | Q8NFJ9. |
| GermOnline | ENSG00000174483. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR011047. Quinonprotein_ADH-like_supfam. [Graphical view] |
| SUPFAM | SSF50998. Quin_alc_DH_like. 1 hit. |
| ProtoNet | Search... |
Other | |
| GenomeRNAi | 582. |
| NextBio | 2383. |
| SOURCE | Search... |
Entry information
| Entry name | BBS1_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q8NFJ9 Secondary accession number(s): Q32MN0, Q96SN4 | ||||||||
| Entry history |
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| 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. | ||||||||
Relevant documents
| Human chromosome 11 Human chromosome 11: 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 |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |

Clusters with
