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Q8NFJ9 (BBS1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 94. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Bardet-Biedl syndrome 1 protein
Alternative name(s):
BBS2-like protein 2
Gene names
Name:BBS1
Synonyms:BBS2L2
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length593 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

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. Ref.6 Ref.9

Subunit structure

Part of BBSome complex, that contains BBS1, BBS2, BBS4, BBS5, BBS7, BBS8/TTC8, BBS9 and BBIP10. Interacts with the C-terminus of RAB3IP. Interacts with CCDC28B and ALDOB. Ref.5 Ref.6 Ref.7 Ref.9

Subcellular location

Cell projectioncilium membrane. Cytoplasm. Cytoplasmcytoskeletonmicrotubule organizing centercentrosomecentriolar satellite Ref.6 Ref.9.

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.1 Ref.10 Ref.11 Ref.12 Ref.13 Ref.14 Ref.15 Ref.17

Ontologies

Keywords
   Biological processCilium biogenesis/degradation
Protein transport
Sensory transduction
Transport
Vision
   Cellular componentCell membrane
Cell projection
Cilium
Cytoplasm
Cytoskeleton
Membrane
   Coding sequence diversityAlternative splicing
Polymorphism
   DiseaseBardet-Biedl syndrome
Ciliopathy
Disease mutation
Mental retardation
Obesity
   PTMAcetylation
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processGolgi to plasma membrane protein transport

Inferred from mutant phenotype PubMed 19150989. Source: MGI

cilium assembly

Inferred from mutant phenotype Ref.6. Source: BHF-UCL

nonmotile primary cilium assembly

Inferred from mutant phenotype PubMed 17980398. Source: BHF-UCL

photoreceptor cell maintenance

Inferred from mutant phenotype PubMed 17980398. Source: BHF-UCL

response to stimulus

Inferred from electronic annotation. Source: UniProtKB-KW

retina homeostasis

Inferred from mutant phenotype PubMed 17980398. Source: BHF-UCL

visual perception

Inferred from electronic annotation. Source: UniProtKB-KW

   Cellular_componentBBSome

Inferred from direct assay Ref.6. Source: BHF-UCL

ciliary membrane

Inferred from electronic annotation. Source: UniProtKB-SubCell

cytoplasm

Inferred from electronic annotation. Source: UniProtKB-SubCell

microtubule organizing center

Inferred from electronic annotation. Source: UniProtKB-SubCell

   Molecular_functionRNA polymerase II repressing transcription factor binding

Inferred from physical interaction PubMed 22302990. Source: MGI

patched binding

Inferred from physical interaction PubMed 22228099. Source: MGI

smoothened binding

Inferred from physical interaction PubMed 22228099. Source: MGI

Complete GO annotation...

Alternative products

This entry describes 3 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.
Isoform 2 (identifier: Q8NFJ9-3)

The sequence of this isoform differs from the canonical sequence as follows:
     242-370: Missing.
     567-593: LVLREGQSAPLLSAHVNMPGSEGLAAA → GPALVPRGR
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Initiator methionine11Removed Ref.8
Chain2 – 593592Bardet-Biedl syndrome 1 protein
PRO_0000064841

Amino acid modifications

Modified residue21N-acetylalanine Ref.8

Natural variations

Alternative sequence1 – 1616MAAAS…CGAES → MDPSWRRSSHSWPQPMPDSG RAPVRPHLAKLEEDVWPCPQ FHQTKAASGPPFV in isoform 3.
VSP_008854
Alternative sequence242 – 370129Missing in isoform 2.
VSP_054152
Alternative sequence567 – 59327LVLRE…GLAAA → GPALVPRGR in isoform 2.
VSP_054153
Natural variant351H → R in BBS1. Ref.12
VAR_038880
Natural variant531K → E in BBS1. Ref.12
VAR_038881
Natural variant1481D → N in BBS1. Ref.12
Corresponds to variant rs200688985 [ dbSNP | Ensembl ].
VAR_038882
Natural variant1601R → Q in BBS1. Ref.14 Ref.17
VAR_038883
Natural variant200 – 2012Missing in BBS1.
VAR_017214
Natural variant2061L → V in a patient with Bardet-Biedl syndrome. Ref.15
Corresponds to variant rs146052054 [ dbSNP | Ensembl ].
VAR_066485
Natural variant2341E → K in BBS1. Ref.11 Ref.12
Corresponds to variant rs35520756 [ dbSNP | Ensembl ].
VAR_017215
Natural variant2451P → L in a patient with Bardet-Biedl syndrome. Ref.15
VAR_066486
Natural variant3051G → S in BBS1. Ref.12
VAR_038884
Natural variant3301I → T in BBS1. Ref.17
VAR_066278
Natural variant3891Missing in BBS1. Ref.12
VAR_038885
Natural variant3901M → R in BBS1. Ref.1 Ref.10 Ref.12 Ref.13 Ref.14 Ref.15 Ref.17
Corresponds to variant rs113624356 [ dbSNP | Ensembl ].
VAR_017216
Natural variant4341Y → S in BBS1. Ref.12
VAR_038886
Natural variant5031L → H in BBS1. Ref.12
VAR_038887
Natural variant5181L → P in BBS1. Ref.10 Ref.13
VAR_017217
Natural variant5181L → Q in BBS1. Ref.12
VAR_038888
Natural variant5241Missing in BBS1. Ref.17
VAR_066279
Natural variant5591G → D in a patient with Meckel-Gruber like syndrome also carrying L-753 in TTC21B and a variant in CC2D2A. Ref.16
VAR_065554

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified October 1, 2002. Version 1.
Checksum: 94C0C05667FE582D

FASTA59365,083
        10         20         30         40         50         60 
MAAASSSDSD ACGAESNEAN SKWLDAHYDP MANIHTFSAC LALADLHGDG EYKLVVGDLG 

        70         80         90        100        110        120 
PGGQQPRLKV LKGPLVMTES PLPALPAAAA TFLMEQHEPR TPALALASGP CVYVYKNLRP 

       130        140        150        160        170        180 
YFKFSLPQLP PNPLEQDLWN QAKEDRIDPL TLKEMLESIR ETAEEPLSIQ SLRFLQLELS 

       190        200        210        220        230        240 
EMEAFVNQHK SNSIKRQTVI TTMTTLKKNL ADEDAVSCLV LGTENKELLV LDPEAFTILA 

       250        260        270        280        290        300 
KMSLPSVPVF LEVSGQFDVE FRLAAACRNG NIYILRRDSK HPKYCIELSA QPVGLIRVHK 

       310        320        330        340        350        360 
VLVVGSTQDS LHGFTHKGKK LWTVQMPAAI LTMNLLEQHS RGLQAVMAGL ANGEVRIYRD 

       370        380        390        400        410        420 
KALLNVIHTP DAVTSLCFGR YGREDNTLIM TTRGGGLIIK ILKRTAVFVE GGSEVGPPPA 

       430        440        450        460        470        480 
QAMKLNVPRK TRLYVDQTLR EREAGTAMHR AFQTDLYLLR LRAARAYLQA LESSLSPLST 

       490        500        510        520        530        540 
TAREPLKLHA VVQGLGPTFK LTLHLQNTST TRPVLGLLVC FLYNEALYSL PRAFFKVPLL 

       550        560        570        580        590 
VPGLNYPLET FVESLSNKGI SDIIKVLVLR EGQSAPLLSA HVNMPGSEGL AAA 

« Hide

Isoform 3 (DPP3-BBS1) [UniParc].

Checksum: 0226F9D57F35804D
Show »

FASTA63069,658
Isoform 2 [UniParc].

Checksum: ECADC15B2602C988
Show »

FASTA44649,006

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. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
[3]"Human chromosome 11 DNA sequence and analysis including novel gene identification."
Taylor T.D., Noguchi H., Totoki Y., Toyoda A., Kuroki Y., Dewar K., Lloyd C., Itoh T., Takeda T., Kim D.-W., She X., Barlow K.F., Bloom T., Bruford E., Chang J.L., Cuomo C.A., Eichler E., FitzGerald M.G. expand/collapse author list , Jaffe D.B., LaButti K., Nicol R., Park H.-S., Seaman C., Sougnez C., Yang X., Zimmer A.R., Zody M.C., Birren B.W., Nusbaum C., Fujiyama A., Hattori M., Rogers J., Lander E.S., Sakaki Y.
Nature 440:497-500(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]"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] (ISOFORMS 1 AND 3).
[5]"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.
[6]"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.
[7]"Novel interaction partners of Bardet-Biedl syndrome proteins."
Oeffner F., Moch C., Neundorf A., Hofmann J., Koch M., Grzeschik K.H.
Cell Motil. Cytoskeleton 65:143-155(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH ALDOB.
[8]"Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.
Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS], CLEAVAGE OF INITIATOR METHIONINE [LARGE SCALE ANALYSIS].
[9]"A novel protein LZTFL1 regulates ciliary trafficking of the BBSome and Smoothened."
Seo S., Zhang Q., Bugge K., Breslow D.K., Searby C.C., Nachury M.V., Sheffield V.C.
PLoS Genet. 7:E1002358-E1002358(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, FUNCTION OF THE BBSOME COMPLEX, IDENTIFICATION IN THE BBSOME COMPLEX, SUBCELLULAR LOCATION.
[10]"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. expand/collapse author list , Biesecker L.G., Stone E.M., 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.
[11]"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.
[12]"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.
[13]"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.
[14]"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. expand/collapse author list , Besancon A.-F., Mandel J.-L., Cossee M., Dollfus H.
Eur. J. Hum. Genet. 13:607-616(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS BBS1 GLN-160 AND ARG-390.
[15]"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.
[16]"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. expand/collapse author list , Hansen N.F., Mullikin J.C., Blakesley R.W., Bouffard G.G., Gyapay G., Rieger S., Tonshoff B., Kern I., Soliman N.A., Neuhaus T.J., Swoboda K.J., Kayserili H., Gallagher T.E., Lewis R.A., Bergmann C., Otto E.A., Saunier S., Scambler P.J., Beales P.L., Gleeson J.G., Maher E.R., Attie-Bitach T., Dollfus H., Johnson C.A., Green E.D., Gibbs R.A., Hildebrandt F., Pierce E.A., Katsanis N.
Nat. Genet. 43:189-196(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT ASP-559, INVOLVEMENT IN CILIOPATHIES.
[17]"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. expand/collapse author list , Mitchell G.A., Boycott K., 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.
AP002748 Genomic DNA. No translation available.
BC109064 mRNA. Translation: AAI09065.1.
BC109065 mRNA. Translation: AAI09066.1.
RefSeqNP_078925.3. NM_024649.4.
UniGeneHs.502915.

3D structure databases

ProteinModelPortalQ8NFJ9.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid107058. 17 interactions.
DIPDIP-46564N.
IntActQ8NFJ9. 30 interactions.
STRING9606.ENSP00000353701.

PTM databases

PhosphoSiteQ8NFJ9.

Polymorphism databases

DMDM38257662.

Proteomic databases

PaxDbQ8NFJ9.
PRIDEQ8NFJ9.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000318312; ENSP00000317469; ENSG00000174483. [Q8NFJ9-1]
ENST00000393994; ENSP00000377563; ENSG00000174483.
GeneID582.
KEGGhsa:582.
UCSCuc001oii.1. human. [Q8NFJ9-2]
uc001oij.1. human. [Q8NFJ9-1]

Organism-specific databases

CTD582.
GeneCardsGC11P066276.
HGNCHGNC:966. BBS1.
HPAHPA058283.
MIM209900. phenotype.
209901. gene.
neXtProtNX_Q8NFJ9.
Orphanet110. Bardet-Biedl syndrome.
PharmGKBPA25275.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG84787.
HOGENOMHOG000260890.
HOVERGENHBG045407.
InParanoidQ8NFJ9.
KOK16746.
OMALTAHINM.
PhylomeDBQ8NFJ9.
TreeFamTF312892.

Gene expression databases

BgeeQ8NFJ9.
CleanExHS_BBS1.
GenevestigatorQ8NFJ9.

Family and domain databases

InterProIPR028784. BBS1.
IPR011047. Quinonprotein_ADH-like_supfam.
[Graphical view]
PANTHERPTHR20870:SF0. PTHR20870:SF0. 1 hit.
SUPFAMSSF50998. SSF50998. 1 hit.
ProtoNetSearch...

Other

GeneWikiBBS1.
GenomeRNAi582.
NextBio2383.
PROQ8NFJ9.
SOURCESearch...

Entry information

Entry nameBBS1_HUMAN
AccessionPrimary (citable) accession number: Q8NFJ9
Secondary accession number(s): Q32MM9, Q32MN0, Q96SN4
Entry history
Integrated into UniProtKB/Swiss-Prot: November 7, 2003
Last sequence update: October 1, 2002
Last modified: April 16, 2014
This is version 94 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 11

Human chromosome 11: entries, gene names and cross-references to MIM