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Aliases for BBS1 Gene

Aliases for BBS1 Gene

  • Bardet-Biedl Syndrome 1 2 3
  • BBS2-Like Protein 2 3 4
  • BBS2L2 3 4
  • Bardet-Biedl Syndrome 1 Protein 3

External Ids for BBS1 Gene

Summaries for BBS1 Gene

Entrez Gene Summary for BBS1 Gene

  • Mutations in this gene have been observed in patients with the major form (type 1) of Bardet-Biedl syndrome. The encoded protein may play a role in eye, limb, cardiac and reproductive system development. [provided by RefSeq, Jul 2008]

GeneCards Summary for BBS1 Gene

BBS1 (Bardet-Biedl Syndrome 1) is a Protein Coding gene. Diseases associated with BBS1 include bardet-biedl syndrome 1 and bbs1-related bardet-biedl syndrome. GO annotations related to this gene include patched binding and smoothened binding. An important paralog of this gene is ENSG00000256349.

UniProtKB/Swiss-Prot for BBS1 Gene

  • 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.

Gene Wiki entry for BBS1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BBS1 Gene

Genomics for BBS1 Gene

Genomic Location for BBS1 Gene

Start:
66,510,606 bp from pter
End:
66,533,627 bp from pter
Size:
23,022 bases
Orientation:
Plus strand

Genomic View for BBS1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for BBS1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BBS1 Gene

Regulatory Elements for BBS1 Gene

Proteins for BBS1 Gene

  • Protein details for BBS1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NFJ9-BBS1_HUMAN
    Recommended name:
    Bardet-Biedl syndrome 1 protein
    Protein Accession:
    Q8NFJ9
    Secondary Accessions:
    • Q32MM9
    • Q32MN0
    • Q96SN4

    Protein attributes for BBS1 Gene

    Size:
    593 amino acids
    Molecular mass:
    65083 Da
    Quaternary 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. Interacts with PKD1 (PubMed:24939912).

    Alternative splice isoforms for BBS1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for BBS1 Gene

Proteomics data for BBS1 Gene at MOPED

Post-translational modifications for BBS1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for BBS1 Gene

Domains for BBS1 Gene

Protein Domains for BBS1 Gene

genes like me logo Genes that share domains with BBS1: view

No data available for Gene Families and UniProtKB/Swiss-Prot for BBS1 Gene

Function for BBS1 Gene

Molecular function for BBS1 Gene

UniProtKB/Swiss-Prot 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.

Gene Ontology (GO) - Molecular Function for BBS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001103 RNA polymerase II repressing transcription factor binding IPI 22302990
GO:0005113 patched binding IPI 22228099
GO:0005119 smoothened binding IPI 22228099
GO:0005515 protein binding IPI 16327777
genes like me logo Genes that share ontologies with BBS1: view
genes like me logo Genes that share phenotypes with BBS1: view

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for BBS1 Gene

Localization for BBS1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BBS1 Gene

Cell projection, cilium membrane. Cytoplasm. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriolar satellite.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for BBS1 Gene COMPARTMENTS Subcellular localization image for BBS1 gene
Compartment Confidence
plasma membrane 5
nucleus 4
cytosol 3

Gene Ontology (GO) - Cellular Components for BBS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm --
GO:0005813 centrosome IBA --
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton --
GO:0005886 plasma membrane --
genes like me logo Genes that share ontologies with BBS1: view

Pathways for BBS1 Gene

SuperPathways for BBS1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for BBS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001895 retina homeostasis IMP 17980398
GO:0006996 organelle organization TAS --
GO:0007601 visual perception IEA --
GO:0035058 nonmotile primary cilium assembly IMP 17980398
GO:0042384 cilium assembly IMP 17574030
genes like me logo Genes that share ontologies with BBS1: view

No data available for Pathways by source for BBS1 Gene

Transcripts for BBS1 Gene

Unigene Clusters for BBS1 Gene

Bardet-Biedl syndrome 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for BBS1 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b ^ 17 ^ 18a · 18b ^ 19 ^
SP1: - - -
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8: - - - - - - - - - - - - - - - -
SP9: - -
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17: -
SP18:
SP19:
SP20:
SP21:
SP22: - -
SP23:
SP24:
SP25:

ExUns: 20a · 20b ^ 21 ^ 22a · 22b · 22c · 22d ^ 23a · 23b ^ 24 ^ 25a · 25b ^ 26 ^ 27a · 27b ^ 28 ^ 29a · 29b ^ 30a · 30b ^ 31a · 31b · 31c · 31d ^ 32a · 32b ^
SP1:
SP2: - - - - - - - - - - - -
SP3: - - - - - -
SP4: - - - - - - -
SP5: - - - - - - - -
SP6: - - - -
SP7: - - - - - - - -
SP8: -
SP9:
SP10: - - -
SP11:
SP12: -
SP13: - -
SP14: - -
SP15: - - - -
SP16: -
SP17:
SP18:
SP19: - -
SP20:
SP21:
SP22:
SP23:
SP24:
SP25:

ExUns: 33a · 33b · 33c · 33d ^ 34 ^ 35 ^ 36a · 36b ^ 37 ^ 38 ^ 39a · 39b ^ 40a · 40b ^ 41a · 41b
SP1:
SP2: - -
SP3: - -
SP4: -
SP5: - - - - - -
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:
SP18:
SP19:
SP20:
SP21:
SP22:
SP23:
SP24:
SP25:

Relevant External Links for BBS1 Gene

GeneLoc Exon Structure for
BBS1
ECgene alternative splicing isoforms for
BBS1

Expression for BBS1 Gene

mRNA expression in normal human tissues for BBS1 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for BBS1 Gene

SOURCE GeneReport for Unigene cluster for BBS1 Gene Hs.502915

mRNA Expression by UniProt/SwissProt for BBS1 Gene

Q8NFJ9-BBS1_HUMAN
Tissue specificity: Highly expressed in the kidney. Also found in fetal tissue, testis, retina, adipose tissue, heart, skeletal muscle and pancreas
genes like me logo Genes that share expressions with BBS1: view

Orthologs for BBS1 Gene

This gene was present in the common ancestor of animals.

Orthologs for BBS1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia BBS1 36
  • 99.38 (n)
  • 98.99 (a)
cow
(Bos Taurus)
Mammalia -- 37
  • 87 (a)
OneToMany
BBS1 36
  • 87.5 (n)
  • 87.16 (a)
dog
(Canis familiaris)
Mammalia -- 37
  • 92 (a)
OneToMany
BBS1 36
  • 89.98 (n)
  • 92.57 (a)
mouse
(Mus musculus)
Mammalia Bbs1 36
  • 87.47 (n)
  • 92.59 (a)
Bbs1 16
Bbs1 37
  • 92 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 37
  • 84 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 37
  • 77 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Bbs1 36
  • 86.95 (n)
  • 92.59 (a)
lizard
(Anolis carolinensis)
Reptilia -- 37
  • 63 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia bbs1 36
  • 64.76 (n)
  • 67.71 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4352 36
zebrafish
(Danio rerio)
Actinopterygii bbs1 36
  • 65.28 (n)
  • 67.94 (a)
bbs1 37
  • 67 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007459 36
  • 50.77 (n)
  • 38.43 (a)
fruit fly
(Drosophila melanogaster)
Insecta BBS1 36
  • 47.13 (n)
  • 32.26 (a)
BBS1 37
  • 29 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea bbs-1 36
  • 43.89 (n)
  • 28.85 (a)
bbs-1 37
  • 28 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 45 (a)
OneToMany
Species with no ortholog for BBS1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for BBS1 Gene

ENSEMBL:
Gene Tree for BBS1 (if available)
TreeFam:
Gene Tree for BBS1 (if available)

Paralogs for BBS1 Gene

Paralogs for BBS1 Gene

genes like me logo Genes that share paralogs with BBS1: view

Variants for BBS1 Gene

Sequence variations from dbSNP and Humsavar for BBS1 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type MAF
rs1671061 -- 66,515,008(-) aaacc(C/T)tgtct intron-variant
rs1671062 -- 66,514,067(-) AGAGA(C/T)ACTGG intron-variant
rs1671065 -- 66,518,906(+) atgca(C/T)gccat intron-variant
rs1791688 -- 66,510,588(+) CTCGC(C/G)CTTCC upstream-variant-2KB
rs1791689 -- 66,511,828(+) acacc(A/G)tctct intron-variant

Structural Variations from Database of Genomic Variants (DGV) for BBS1 Gene

Variant ID Type Subtype PubMed ID
dgv1187n71 CNV Loss 21882294
nsv832193 CNV Loss 17160897
nsv468601 CNV Loss 19166990
nsv522277 CNV Loss 19592680
nsv897787 CNV Loss 21882294

Relevant External Links for BBS1 Gene

HapMap Linkage Disequilibrium report
BBS1
Human Gene Mutation Database (HGMD)
BBS1
Locus Specific Mutation Databases (LSDB)
BBS1

Disorders for BBS1 Gene

(1) OMIM Diseases for BBS1 Gene (209901)

UniProtKB/Swiss-Prot

BBS1_HUMAN
  • Note=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. {ECO:0000269 PubMed:12118255, ECO:0000269 PubMed:12524598, ECO:0000269 PubMed:12567324, ECO:0000269 PubMed:12677556, ECO:0000269 PubMed:12920096, ECO:0000269 PubMed:15770229, ECO:0000269 PubMed:21052717, ECO:0000269 PubMed:21344540}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(4) Novoseek inferred disease relationships for BBS1 Gene

Disease -log(P) Hits PubMed IDs
bardet-biedl syndrome 97 4
polydactyly 92.1 1
retinitis pigmentosa 79.2 1
obesity 65.4 1

Relevant External Links for BBS1

GeneTests
BBS1
GeneReviews
BBS1
Genetic Association Database (GAD)
BBS1
Human Genome Epidemiology (HuGE) Navigator
BBS1
genes like me logo Genes that share disorders with BBS1: view

Publications for BBS1 Gene

  1. Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2. (PMID: 12567324) Badano J.L. … Katsanis N. (Am. J. Hum. Genet. 2003) 2 3 4 23
  2. Identification of the gene (BBS1) most commonly involved in Bardet- Biedl syndrome, a complex human obesity syndrome. (PMID: 12118255) Mykytyn K. … Sheffield V.C. (Nat. Genet. 2002) 3 4 23
  3. Analysis of 30 genes (355 SNPS) related to energy homeostasis for association with adiposity in European-American and Yup'ik Eskimo populations. (PMID: 19077438) Chung W.K. … Tiwari H.K. (Hum. Hered. 2009) 3 49
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  5. Bardet-Biedl syndrome 1 genotype and obesity in the Newfoundland population. (PMID: 14993910) Fan Y. … Davidson W.S. (Int. J. Obes. Relat. Metab. Disord. 2004) 3 49

Products for BBS1 Gene

Sources for BBS1 Gene

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