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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
  • Bardet-Biedl Syndrome 1 Protein 3

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 Cargo trafficking to the periciliary membrane and Organelle biogenesis and maintenance. 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 CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BBS1 Gene

Genomics for BBS1 Gene

Regulatory Elements for BBS1 Gene

Enhancers for BBS1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11G066508 1.1 ENCODE 0.7 -0.5 -478 2.9 FOXA2 ARNT AGO1 WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 DPP3 CTSF LOC101928069 PELI3 MRPL11 EHBP1L1 RNU1-84P BRD9P1 ACTN3 ZDHHC24
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around BBS1 on UCSC Golden Path with GeneCards custom track

Promoters for BBS1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000040979 95 1000 ARNT AGO1 WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF143

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

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: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

Human Phenotype Ontology for BBS1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for BBS1 gene
Compartment Confidence
plasma membrane 5
cytoskeleton 5
cytosol 5
nucleus 1

Gene Ontology (GO) - Cellular Components for BBS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005813 centrosome IDA 18762586
GO:0005815 microtubule organizing center IEA --
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton IEA --
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:0006810 transport IEA --
GO:0007601 visual perception IEA --
GO:0015031 protein transport IEA --
GO:0030030 cell projection organization IEA --
genes like me logo Genes that share ontologies with BBS1: view

No data available for SIGNOR curated interactions for BBS1 Gene

Transcripts for BBS1 Gene

Unigene Clusters for BBS1 Gene

Bardet-Biedl syndrome 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for BBS1 Gene



Protein tissue co-expression partners for BBS1 Gene

NURSA nuclear receptor signaling pathways regulating expression of BBS1 Gene:

BBS1

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.

Evidence on tissue expression from TISSUES for BBS1 Gene

  • Nervous system(4.9)
  • Eye(3.3)
  • Lung(3.2)
  • Kidney(3)
  • Pancreas(2.4)
  • Intestine(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for BBS1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • jaw
  • mandible
  • maxilla
  • middle ear
  • mouth
  • olfactory bulb
  • pituitary gland
  • skull
  • tooth
Thorax:
  • breast
  • bronchus
  • heart
  • heart valve
  • lung
Abdomen:
  • biliary tract
  • gallbladder
  • kidney
  • liver
  • pancreas
Pelvis:
  • ovary
  • penis
  • prostate
  • testicle
  • ureter
  • urethra
  • urinary bladder
  • uterus
  • vagina
  • vulva
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • toe
  • upper limb
General:
  • blood
  • blood vessel
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with BBS1: view

Primer 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 34
  • 99.38 (n)
dog
(Canis familiaris)
Mammalia -- 35
  • 92 (a)
OneToMany
BBS1 34
  • 89.98 (n)
cow
(Bos Taurus)
Mammalia BBS1 34
  • 87.5 (n)
-- 35
  • 87 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Bbs1 34 16 35
  • 87.47 (n)
rat
(Rattus norvegicus)
Mammalia Bbs1 34
  • 86.95 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 84 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 77 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 63 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia bbs1 34
  • 64.76 (n)
zebrafish
(Danio rerio)
Actinopterygii bbs1 34 35
  • 65.28 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4352 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007459 34
  • 50.77 (n)
fruit fly
(Drosophila melanogaster)
Insecta BBS1 34 35
  • 47.13 (n)
worm
(Caenorhabditis elegans)
Secernentea bbs-1 34 35
  • 43.89 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 45 (a)
OneToMany
Species where no ortholog for BBS1 was found in the sources mined by GeneCards:
  • 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
rs113624356 Pathogenic, Bardet-Biedl syndrome 1 (BBS1) [MIM:209900] 66,526,181(+) CATCA(G/T)GACCA intron-variant, reference, missense
rs121917778 Pathogenic, Bardet-Biedl syndrome 1 (BBS1) [MIM:209900] 66,530,973(+) GCTGC(C/T)GGTCT intron-variant, reference, missense
rs200688985 Bardet-Biedl syndrome 1 (BBS1) [MIM:209900] 66,515,549(+) GAATC(A/G)ACCCC reference, missense
rs35520756 other, Bardet-Biedl syndrome 1 (BBS1) [MIM:209900] 66,519,725(+) ACCCC(A/G)AGGCC reference, missense
rs376894444 Likely pathogenic, Bardet-Biedl syndrome 1 (BBS1) [MIM:209900] 66,515,586(+) CATCC(A/G)GTGAG reference, missense

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

Variant ID Type Subtype PubMed ID
nsv468601 CNV loss 19166990
nsv522277 CNV loss 19592680
nsv555224 CNV loss 21841781
nsv832193 CNV loss 17160897

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

Human Gene Mutation Database (HGMD)
BBS1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
BBS1

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

Disorders for BBS1 Gene

MalaCards: The human disease database

(27) 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
bardet-biedl syndrome 11
  • bbs11
bardet-biedl syndrome 12
  • bbs12
bardet-biedl syndrome 10
  • bbs10
- 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
  • 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.
  • 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.

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 22 64
  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 22 64
  3. Bardet-Biedl syndrome proteins 1 and 3 regulate the ciliary trafficking of polycystic kidney disease 1 protein. (PMID: 24939912) Su X. … Zhou J. (Hum. Mol. Genet. 2014) 3 4 64
  4. Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip. (PMID: 20801516) Booij J.C. … Florijn R.J. (Ophthalmology 2011) 3 46 64
  5. Requirement of Bardet-Biedl syndrome proteins for leptin receptor signaling. (PMID: 19150989) Seo S. … Sheffield V.C. (Hum. Mol. Genet. 2009) 3 22 64

Products for BBS1 Gene

Sources for BBS1 Gene

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