SubmitCancel

Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

Q8NFJ9

- BBS1_HUMAN

UniProt

Q8NFJ9 - BBS1_HUMAN

(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Protein

Bardet-Biedl syndrome 1 protein

Gene
BBS1, BBS2L2
Organism
Homo sapiens (Human)
Status
Reviewed - 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

  1. patched binding Source: MGI
  2. protein binding Source: UniProtKB
  3. RNA polymerase II repressing transcription factor binding Source: MGI
  4. smoothened binding Source: MGI

GO - Biological processi

  1. cilium assembly Source: BHF-UCL
  2. Golgi to plasma membrane protein transport Source: MGI
  3. nonmotile primary cilium assembly Source: BHF-UCL
  4. photoreceptor cell maintenance Source: BHF-UCL
  5. response to stimulus Source: UniProtKB-KW
  6. retina homeostasis Source: BHF-UCL
  7. visual perception Source: UniProtKB-KW
Complete GO annotation...

Keywords - Biological processi

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

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: Chromosome 11

Organism-specific databases

HGNCiHGNC:966. BBS1.

Subcellular locationi

Cell projectioncilium membrane. Cytoplasm. Cytoplasmcytoskeletonmicrotubule organizing centercentrosomecentriolar satellite 2 Publications

GO - Cellular componenti

  1. BBSome Source: UniProtKB
  2. ciliary membrane Source: UniProtKB-SubCell
  3. cytoplasm Source: UniProtKB-SubCell
  4. microtubule organizing center Source: UniProtKB-SubCell
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) [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.8 Publications
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.
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. 1 Publication
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.

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.
GenevestigatoriQ8NFJ9.

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.4 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. 18 interactions.
DIPiDIP-46564N.
IntActiQ8NFJ9. 30 interactions.
STRINGi9606.ENSP00000353701.

Structurei

3D structure databases

ProteinModelPortaliQ8NFJ9.

Family & Domainsi

Phylogenomic databases

eggNOGiNOG84787.
HOGENOMiHOG000260890.
HOVERGENiHBG045407.
InParanoidiQ8NFJ9.
KOiK16746.
OMAiLTAHINM.
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. Align

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

MAAASSSDSD ACGAESNEAN SKWLDAHYDP MANIHTFSAC LALADLHGDG    50
EYKLVVGDLG PGGQQPRLKV LKGPLVMTES PLPALPAAAA TFLMEQHEPR 100
TPALALASGP CVYVYKNLRP YFKFSLPQLP PNPLEQDLWN QAKEDRIDPL 150
TLKEMLESIR ETAEEPLSIQ SLRFLQLELS EMEAFVNQHK SNSIKRQTVI 200
TTMTTLKKNL ADEDAVSCLV LGTENKELLV LDPEAFTILA KMSLPSVPVF 250
LEVSGQFDVE FRLAAACRNG NIYILRRDSK HPKYCIELSA QPVGLIRVHK 300
VLVVGSTQDS LHGFTHKGKK LWTVQMPAAI LTMNLLEQHS RGLQAVMAGL 350
ANGEVRIYRD KALLNVIHTP DAVTSLCFGR YGREDNTLIM TTRGGGLIIK 400
ILKRTAVFVE GGSEVGPPPA QAMKLNVPRK TRLYVDQTLR EREAGTAMHR 450
AFQTDLYLLR LRAARAYLQA LESSLSPLST TAREPLKLHA VVQGLGPTFK 500
LTLHLQNTST TRPVLGLLVC FLYNEALYSL PRAFFKVPLL VPGLNYPLET 550
FVESLSNKGI SDIIKVLVLR EGQSAPLLSA HVNMPGSEGL AAA 593
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.
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. 1 Publication
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. VSP_008854Add
BLAST
Alternative sequencei242 – 370129Missing in isoform 2. VSP_054152Add
BLAST
Alternative sequencei567 – 59327LVLRE…GLAAA → GPALVPRGR in isoform 2. VSP_054153Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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. [Q8NFJ9-1]
ENST00000393994; ENSP00000377563; ENSG00000174483.
GeneIDi582.
KEGGihsa:582.
UCSCiuc001oii.1. human. [Q8NFJ9-2]
uc001oij.1. human. [Q8NFJ9-1]

Polymorphism databases

DMDMi38257662.

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:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS8142.1. [Q8NFJ9-1 ]
RefSeqi NP_078925.3. NM_024649.4. [Q8NFJ9-1 ]
UniGenei Hs.502915.

3D structure databases

ProteinModelPortali Q8NFJ9.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 107058. 18 interactions.
DIPi DIP-46564N.
IntActi Q8NFJ9. 30 interactions.
STRINGi 9606.ENSP00000353701.

PTM databases

PhosphoSitei Q8NFJ9.

Polymorphism databases

DMDMi 38257662.

Proteomic databases

MaxQBi Q8NFJ9.
PaxDbi Q8NFJ9.
PRIDEi Q8NFJ9.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000318312 ; ENSP00000317469 ; ENSG00000174483 . [Q8NFJ9-1 ]
ENST00000393994 ; ENSP00000377563 ; ENSG00000174483 .
GeneIDi 582.
KEGGi hsa:582.
UCSCi uc001oii.1. human. [Q8NFJ9-2 ]
uc001oij.1. human. [Q8NFJ9-1 ]

Organism-specific databases

CTDi 582.
GeneCardsi GC11P066276.
GeneReviewsi BBS1.
HGNCi HGNC:966. BBS1.
HPAi HPA058283.
MIMi 209900. phenotype.
209901. gene.
neXtProti NX_Q8NFJ9.
Orphaneti 110. Bardet-Biedl syndrome.
PharmGKBi PA25275.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG84787.
HOGENOMi HOG000260890.
HOVERGENi HBG045407.
InParanoidi Q8NFJ9.
KOi K16746.
OMAi LTAHINM.
PhylomeDBi Q8NFJ9.
TreeFami TF312892.

Miscellaneous databases

GeneWikii BBS1.
GenomeRNAii 582.
NextBioi 2383.
PROi Q8NFJ9.
SOURCEi Search...

Gene expression databases

Bgeei Q8NFJ9.
CleanExi HS_BBS1.
Genevestigatori Q8NFJ9.

Family and domain databases

InterProi IPR028784. BBS1.
IPR011047. Quinonprotein_ADH-like_supfam.
[Graphical view ]
PANTHERi PTHR20870:SF0. PTHR20870:SF0. 1 hit.
SUPFAMi SSF50998. SSF50998. 1 hit.
ProtoNeti Search...

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. 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. 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. Cited for: VARIANT ASP-559, INVOLVEMENT IN CILIOPATHIES.
  17. 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 9, 2014
This is version 97 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