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Protein

Bardet-Biedl syndrome 1 protein

Gene

BBS1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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.2 Publications

GO - Molecular functioni

  • patched binding Source: MGI
  • RNA polymerase II repressing transcription factor binding Source: MGI
  • smoothened binding Source: MGI

GO - Biological processi

  • cilium assembly Source: BHF-UCL
  • Golgi to plasma membrane protein transport Source: MGI
  • nonmotile primary cilium assembly Source: BHF-UCL
  • organelle organization Source: Reactome
  • photoreceptor cell maintenance Source: BHF-UCL
  • protein localization to cilium Source: GO_Central
  • response to stimulus Source: UniProtKB-KW
  • retina homeostasis Source: BHF-UCL
  • visual perception Source: UniProtKB-KW
Complete GO annotation...

Keywords - Biological processi

Cilium biogenesis/degradation, Protein transport, Sensory transduction, Transport, Vision

Enzyme and pathway databases

ReactomeiREACT_267948. BBSome-mediated cargo-targeting to cilium.

Names & Taxonomyi

Protein namesi
Recommended name:
Bardet-Biedl syndrome 1 protein
Alternative name(s):
BBS2-like protein 2
Gene namesi
Name:BBS1
Synonyms:BBS2L2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640 Componenti: Chromosome 11

Organism-specific databases

HGNCiHGNC:966. BBS1.

Subcellular locationi

GO - Cellular componenti

  • axoneme Source: GO_Central
  • BBSome Source: UniProtKB
  • centrosome Source: SYSCILIA_CCNET
  • ciliary basal body Source: GO_Central
  • ciliary membrane Source: UniProtKB-SubCell
  • cytosol Source: Reactome
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Cell projection, Cilium, Cytoplasm, Cytoskeleton, Membrane

Pathology & Biotechi

Involvement in diseasei

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)8 Publications

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA 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.

See also OMIM:209900
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti35 – 351H → R in BBS1. 1 Publication
VAR_038880
Natural varianti53 – 531K → E in BBS1. 1 Publication
VAR_038881
Natural varianti148 – 1481D → N in BBS1. 1 Publication
Corresponds to variant rs200688985 [ dbSNP | Ensembl ].
VAR_038882
Natural varianti160 – 1601R → Q in BBS1. 2 Publications
VAR_038883
Natural varianti200 – 2012Missing in BBS1. 1 Publication
VAR_017214
Natural varianti234 – 2341E → K in BBS1. 2 Publications
Corresponds to variant rs35520756 [ dbSNP | Ensembl ].
VAR_017215
Natural varianti305 – 3051G → S in BBS1. 1 Publication
VAR_038884
Natural varianti330 – 3301I → T in BBS1. 1 Publication
VAR_066278
Natural varianti389 – 3891Missing in BBS1. 1 Publication
VAR_038885
Natural varianti390 – 3901M → R in BBS1. 7 Publications
Corresponds to variant rs113624356 [ dbSNP | Ensembl ].
VAR_017216
Natural varianti434 – 4341Y → S in BBS1.
VAR_038886
Natural varianti503 – 5031L → H in BBS1. 1 Publication
VAR_038887
Natural varianti518 – 5181L → P in BBS1. 2 Publications
VAR_017217
Natural varianti518 – 5181L → Q in BBS1. 1 Publication
VAR_038888
Natural varianti524 – 5241Missing in BBS1. 1 Publication
VAR_066279

Keywords - Diseasei

Bardet-Biedl syndrome, Ciliopathy, Disease mutation, Mental retardation, Obesity

Organism-specific databases

MIMi209900. phenotype.
Orphaneti110. Bardet-Biedl syndrome.
PharmGKBiPA25275.

Polymorphism and mutation databases

BioMutaiBBS1.
DMDMi38257662.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Initiator methioninei1 – 11Removed1 Publication
Chaini2 – 593592Bardet-Biedl syndrome 1 proteinPRO_0000064841Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei2 – 21N-acetylalanine1 Publication

Keywords - PTMi

Acetylation

Proteomic databases

MaxQBiQ8NFJ9.
PaxDbiQ8NFJ9.
PRIDEiQ8NFJ9.

PTM databases

PhosphoSiteiQ8NFJ9.

Expressioni

Tissue specificityi

Highly expressed in the kidney. Also found in fetal tissue, testis, retina, adipose tissue, heart, skeletal muscle and pancreas.

Gene expression databases

BgeeiQ8NFJ9.
CleanExiHS_BBS1.
ExpressionAtlasiQ8NFJ9. baseline.
GenevisibleiQ8NFJ9. HS.

Organism-specific databases

HPAiHPA058283.

Interactioni

Subunit structurei

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. Interacts with PKD1 (PubMed:24939912).5 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
ALDOBP050624EBI-1805484,EBI-1045507
ARL6Q9H0F74EBI-1805484,EBI-2891949
BBS2Q9BXC96EBI-1805484,EBI-748297
BBS4Q96RK45EBI-1805484,EBI-1805814
BBS7Q8IWZ66EBI-1805484,EBI-1806001
BBS9Q3SYG46EBI-1805484,EBI-2826852
EEF1A1P681043EBI-1805484,EBI-352162
LeprP48356-13EBI-1805484,EBI-6143588From a different organism.
PCM1Q151542EBI-1805484,EBI-741421
RAB3IPQ96QF0-12EBI-1805484,EBI-747860

Protein-protein interaction databases

BioGridi107058. 28 interactions.
DIPiDIP-46564N.
IntActiQ8NFJ9. 32 interactions.
STRINGi9606.ENSP00000317469.

Structurei

3D structure databases

ProteinModelPortaliQ8NFJ9.
SMRiQ8NFJ9. Positions 21-406.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Phylogenomic databases

eggNOGiNOG84787.
GeneTreeiENSGT00390000005232.
HOGENOMiHOG000260890.
HOVERGENiHBG045407.
InParanoidiQ8NFJ9.
KOiK16746.
OMAiSICFGRY.
PhylomeDBiQ8NFJ9.
TreeFamiTF312892.

Family and domain databases

InterProiIPR028784. BBS1.
IPR011047. Quinonprotein_ADH-like_supfam.
[Graphical view]
PANTHERiPTHR20870:SF0. PTHR20870:SF0. 1 hit.
SUPFAMiSSF50998. SSF50998. 1 hit.

Sequences (3)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8NFJ9-1) [UniParc]FASTAAdd to basket

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.

« Hide

        10         20         30         40         50
MAAASSSDSD ACGAESNEAN SKWLDAHYDP MANIHTFSAC LALADLHGDG
60 70 80 90 100
EYKLVVGDLG PGGQQPRLKV LKGPLVMTES PLPALPAAAA TFLMEQHEPR
110 120 130 140 150
TPALALASGP CVYVYKNLRP YFKFSLPQLP PNPLEQDLWN QAKEDRIDPL
160 170 180 190 200
TLKEMLESIR ETAEEPLSIQ SLRFLQLELS EMEAFVNQHK SNSIKRQTVI
210 220 230 240 250
TTMTTLKKNL ADEDAVSCLV LGTENKELLV LDPEAFTILA KMSLPSVPVF
260 270 280 290 300
LEVSGQFDVE FRLAAACRNG NIYILRRDSK HPKYCIELSA QPVGLIRVHK
310 320 330 340 350
VLVVGSTQDS LHGFTHKGKK LWTVQMPAAI LTMNLLEQHS RGLQAVMAGL
360 370 380 390 400
ANGEVRIYRD KALLNVIHTP DAVTSLCFGR YGREDNTLIM TTRGGGLIIK
410 420 430 440 450
ILKRTAVFVE GGSEVGPPPA QAMKLNVPRK TRLYVDQTLR EREAGTAMHR
460 470 480 490 500
AFQTDLYLLR LRAARAYLQA LESSLSPLST TAREPLKLHA VVQGLGPTFK
510 520 530 540 550
LTLHLQNTST TRPVLGLLVC FLYNEALYSL PRAFFKVPLL VPGLNYPLET
560 570 580 590
FVESLSNKGI SDIIKVLVLR EGQSAPLLSA HVNMPGSEGL AAA
Length:593
Mass (Da):65,083
Last modified:October 1, 2002 - v1
Checksum:i94C0C05667FE582D
GO
Isoform 3 (identifier: Q8NFJ9-2) [UniParc]FASTAAdd to basket

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.
Show »
Length:630
Mass (Da):69,658
Checksum:i0226F9D57F35804D
GO
Isoform 2 (identifier: Q8NFJ9-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     242-370: Missing.
     567-593: LVLREGQSAPLLSAHVNMPGSEGLAAA → GPALVPRGR

Note: No experimental confirmation available.
Show »
Length:446
Mass (Da):49,006
Checksum:iECADC15B2602C988
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti35 – 351H → R in BBS1. 1 Publication
VAR_038880
Natural varianti53 – 531K → E in BBS1. 1 Publication
VAR_038881
Natural varianti148 – 1481D → N in BBS1. 1 Publication
Corresponds to variant rs200688985 [ dbSNP | Ensembl ].
VAR_038882
Natural varianti160 – 1601R → Q in BBS1. 2 Publications
VAR_038883
Natural varianti200 – 2012Missing in BBS1. 1 Publication
VAR_017214
Natural varianti206 – 2061L → V in a patient with Bardet-Biedl syndrome. 1 Publication
Corresponds to variant rs146052054 [ dbSNP | Ensembl ].
VAR_066485
Natural varianti234 – 2341E → K in BBS1. 2 Publications
Corresponds to variant rs35520756 [ dbSNP | Ensembl ].
VAR_017215
Natural varianti245 – 2451P → L in a patient with Bardet-Biedl syndrome. 1 Publication
VAR_066486
Natural varianti305 – 3051G → S in BBS1. 1 Publication
VAR_038884
Natural varianti330 – 3301I → T in BBS1. 1 Publication
VAR_066278
Natural varianti389 – 3891Missing in BBS1. 1 Publication
VAR_038885
Natural varianti390 – 3901M → R in BBS1. 7 Publications
Corresponds to variant rs113624356 [ dbSNP | Ensembl ].
VAR_017216
Natural varianti434 – 4341Y → S in BBS1.
VAR_038886
Natural varianti503 – 5031L → H in BBS1. 1 Publication
VAR_038887
Natural varianti518 – 5181L → P in BBS1. 2 Publications
VAR_017217
Natural varianti518 – 5181L → Q in BBS1. 1 Publication
VAR_038888
Natural varianti524 – 5241Missing in BBS1. 1 Publication
VAR_066279
Natural varianti559 – 5591G → D in a patient with Meckel-Gruber like syndrome also carrying L-753 in TTC21B and a variant in CC2D2A. 1 Publication
VAR_065554

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 1616MAAAS…CGAES → MDPSWRRSSHSWPQPMPDSG RAPVRPHLAKLEEDVWPCPQ FHQTKAASGPPFV in isoform 3. 2 PublicationsVSP_008854Add
BLAST
Alternative sequencei242 – 370129Missing in isoform 2. CuratedVSP_054152Add
BLAST
Alternative sequencei567 – 59327LVLRE…GLAAA → GPALVPRGR in isoform 2. CuratedVSP_054153Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS8142.1. [Q8NFJ9-1]
RefSeqiNP_078925.3. NM_024649.4. [Q8NFJ9-1]
UniGeneiHs.502915.

Genome annotation databases

EnsembliENST00000318312; ENSP00000317469; ENSG00000174483.
ENST00000393994; ENSP00000377563; ENSG00000174483. [Q8NFJ9-3]
GeneIDi582.
KEGGihsa:582.
UCSCiuc001oii.1. human. [Q8NFJ9-2]
uc001oij.1. human. [Q8NFJ9-1]
uc001oil.1. human.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

Mutations of the BBS1 gene

Retina International's Scientific Newsletter

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS8142.1. [Q8NFJ9-1]
RefSeqiNP_078925.3. NM_024649.4. [Q8NFJ9-1]
UniGeneiHs.502915.

3D structure databases

ProteinModelPortaliQ8NFJ9.
SMRiQ8NFJ9. Positions 21-406.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi107058. 28 interactions.
DIPiDIP-46564N.
IntActiQ8NFJ9. 32 interactions.
STRINGi9606.ENSP00000317469.

PTM databases

PhosphoSiteiQ8NFJ9.

Polymorphism and mutation databases

BioMutaiBBS1.
DMDMi38257662.

Proteomic databases

MaxQBiQ8NFJ9.
PaxDbiQ8NFJ9.
PRIDEiQ8NFJ9.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000318312; ENSP00000317469; ENSG00000174483.
ENST00000393994; ENSP00000377563; ENSG00000174483. [Q8NFJ9-3]
GeneIDi582.
KEGGihsa:582.
UCSCiuc001oii.1. human. [Q8NFJ9-2]
uc001oij.1. human. [Q8NFJ9-1]
uc001oil.1. human.

Organism-specific databases

CTDi582.
GeneCardsiGC11P066276.
GeneReviewsiBBS1.
HGNCiHGNC:966. BBS1.
HPAiHPA058283.
MIMi209900. phenotype.
209901. gene.
neXtProtiNX_Q8NFJ9.
Orphaneti110. Bardet-Biedl syndrome.
PharmGKBiPA25275.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG84787.
GeneTreeiENSGT00390000005232.
HOGENOMiHOG000260890.
HOVERGENiHBG045407.
InParanoidiQ8NFJ9.
KOiK16746.
OMAiSICFGRY.
PhylomeDBiQ8NFJ9.
TreeFamiTF312892.

Enzyme and pathway databases

ReactomeiREACT_267948. BBSome-mediated cargo-targeting to cilium.

Miscellaneous databases

ChiTaRSiBBS1. human.
GeneWikiiBBS1.
GenomeRNAii582.
NextBioi2383.
PROiQ8NFJ9.
SOURCEiSearch...

Gene expression databases

BgeeiQ8NFJ9.
CleanExiHS_BBS1.
ExpressionAtlasiQ8NFJ9. baseline.
GenevisibleiQ8NFJ9. HS.

Family and domain databases

InterProiIPR028784. BBS1.
IPR011047. Quinonprotein_ADH-like_supfam.
[Graphical view]
PANTHERiPTHR20870:SF0. PTHR20870:SF0. 1 hit.
SUPFAMiSSF50998. SSF50998. 1 hit.
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. 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.
    , 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. 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. 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. 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. "Bardet-Biedl syndrome proteins 1 and 3 regulate the ciliary trafficking of polycystic kidney disease 1 protein."
    Su X., Driscoll K., Yao G., Raed A., Wu M., Beales P.L., Zhou J.
    Hum. Mol. Genet. 23:5441-5451(2014) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH PKD1.
  11. Cited for: VARIANTS BBS1 200-ILE-THR-201 DEL; ARG-390 AND PRO-518.
  12. "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.
  13. "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.
  14. "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.
  15. Cited for: VARIANTS BBS1 GLN-160 AND ARG-390.
  16. "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.
  17. Cited for: VARIANT ASP-559, INVOLVEMENT IN CILIOPATHIES.
  18. Cited for: VARIANTS BBS1 GLN-160; THR-330; ARG-390 AND ASN-524 DEL.

Entry informationi

Entry nameiBBS1_HUMAN
AccessioniPrimary (citable) accession number: Q8NFJ9
Secondary accession number(s): Q32MM9, Q32MN0, Q96SN4
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 7, 2003
Last sequence update: October 1, 2002
Last modified: July 22, 2015
This is version 108 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

External Data

Dasty 3

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.