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Aliases for BBS1 Gene

Aliases for BBS1 Gene

  • Bardet-Biedl Syndrome 1 2 3 5
  • BBS2-Like Protein 2 3 4
  • BBS2L2 3 4

External Ids for BBS1 Gene

Previous GeneCards Identifiers for BBS1 Gene

  • GC11U990008
  • GC11P066024
  • GC11P066025
  • GC11P066006
  • GC11P066247
  • GC11P066276

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 bardet-biedl syndrome. Among its related pathways are Organelle biogenesis and maintenance and Cargo trafficking to the periciliary membrane. GO annotations related to this gene include RNA polymerase II repressing transcription factor 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

Regulatory Elements for BBS1 Gene

Promoters for BBS1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around BBS1 on UCSC Golden Path with GeneCards custom track

Genomic Location for BBS1 Gene

Chromosome:
11
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

Genes around BBS1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BBS1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BBS1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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 & Families for BBS1 Gene

Gene Families for BBS1 Gene

Protein Domains for BBS1 Gene

Suggested Antigen Peptide Sequences for BBS1 Gene

Graphical View of Domain Structure for InterPro Entry

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

No data available for 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:0005113 patched binding IPI 22228099
GO:0005119 smoothened binding IPI 22228099
genes like me logo Genes that share ontologies with BBS1: view
genes like me logo Genes that share phenotypes with BBS1: view

Human Phenotype Ontology for BBS1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets 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
cytoskeleton 5
cytosol 5
plasma membrane 5
nucleus 1

Gene Ontology (GO) - Cellular Components for BBS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005930 axoneme IBA --
GO:0034464 BBSome IEA,IDA 17574030
genes like me logo Genes that share ontologies with BBS1: view

Pathways & Interactions for BBS1 Gene

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

Gene Ontology (GO) - Biological Process for BBS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001895 retina homeostasis IMP 17980398
GO:0007601 visual perception IEA --
GO:0043001 Golgi to plasma membrane protein transport IMP 19150989
GO:0050896 response to stimulus IEA --
genes like me logo Genes that share ontologies with BBS1: view

No data available for SIGNOR curated interactions for BBS1 Gene

Drugs & Compounds for BBS1 Gene

No Compound Related Data Available

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

Protein differential expression in normal tissues from HIPED for BBS1 Gene

This gene is overexpressed in Retina (26.6), Plasma (24.9), and Cerebrospinal fluid (8.6).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with BBS1: view

Protein tissue co-expression partners for BBS1 Gene

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for BBS1 Gene

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 35
  • 99.38 (n)
  • 98.99 (a)
cow
(Bos Taurus)
Mammalia BBS1 35
  • 87.5 (n)
  • 87.16 (a)
-- 36
  • 87 (a)
OneToMany
dog
(Canis familiaris)
Mammalia -- 36
  • 92 (a)
OneToMany
BBS1 35
  • 89.98 (n)
  • 92.57 (a)
mouse
(Mus musculus)
Mammalia Bbs1 16
Bbs1 36
  • 92 (a)
OneToMany
Bbs1 35
  • 87.47 (n)
  • 92.59 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 84 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 77 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Bbs1 35
  • 86.95 (n)
  • 92.59 (a)
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 63 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia bbs1 35
  • 64.76 (n)
  • 67.71 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4352 35
zebrafish
(Danio rerio)
Actinopterygii bbs1 36
  • 67 (a)
OneToMany
bbs1 35
  • 65.28 (n)
  • 67.94 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007459 35
  • 50.77 (n)
  • 38.43 (a)
fruit fly
(Drosophila melanogaster)
Insecta BBS1 35
  • 47.13 (n)
  • 32.26 (a)
BBS1 36
  • 29 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea bbs-1 35
  • 43.89 (n)
  • 28.85 (a)
bbs-1 36
  • 28 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 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
rs35520756 Bardet-Biedl syndrome 1 (BBS1) 66,519,725(+) ACCCC(A/G)AGGCC reference, missense
VAR_017216 Bardet-Biedl syndrome 1 (BBS1)
VAR_017217 Bardet-Biedl syndrome 1 (BBS1)
VAR_038880 Bardet-Biedl syndrome 1 (BBS1)
VAR_038881 Bardet-Biedl syndrome 1 (BBS1)

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

Variation tolerance for BBS1 Gene

Residual Variation Intolerance Score: 66.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.11; 2.44% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for BBS1 Gene

HapMap Linkage Disequilibrium report
BBS1
Human Gene Mutation Database (HGMD)
BBS1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BBS1 Gene

Disorders for BBS1 Gene

MalaCards: The human disease database

(21) MalaCards diseases for BBS1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
bardet-biedl syndrome 1
  • bardet-biedl syndrome 1, modifier of
bardet-biedl syndrome
  • biedl-bardet syndrome
bbs1-related bardet-biedl syndrome
  • bardet-biedl syndrome 1
bardet-biedl syndrome 19
  • bbs19
abdominal obesity-metabolic syndrome 3
  • central obesity, type 2 diabetes, hypertension, and early-onset coronary artery disease
- elite association - COSMIC cancer census association via MalaCards
Search BBS1 in MalaCards View complete list of genes associated with diseases

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.

Relevant External Links for BBS1

Genetic Association Database (GAD)
BBS1
Human Genome Epidemiology (HuGE) Navigator
BBS1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
BBS1
genes like me logo Genes that share disorders with BBS1: view

No data available for Genatlas for BBS1 Gene

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 67
  2. Requirement of Bardet-Biedl syndrome proteins for leptin receptor signaling. (PMID: 19150989) Seo S. … Sheffield V.C. (Hum. Mol. Genet. 2009) 3 23
  3. Bardet-biedl syndrome: an atypical phenotype in brothers with a proven BBS1 mutation. (PMID: 18766993) Cannon P.S. … Lloyd I.C. (Ophthalmic Genet. 2008) 3 23
  4. Retinal disease expression in Bardet-Biedl syndrome-1 (BBS1) is a spectrum from maculopathy to retina-wide degeneration. (PMID: 17065520) Azari A.A. … Jacobson S.G. (Invest. Ophthalmol. Vis. Sci. 2006) 3 23
  5. 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 23

Products for BBS1 Gene

Sources for BBS1 Gene

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