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Bardet Biedl Syndrome Protein 1 (BBS1)

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BBS2L2; BBS2-like protein 2

Bardet Biedl Syndrome Protein 1 (BBS1)
CCC L249
HGNC 966
MGI 1277215
PubMed 12118255
RGD 1307581
UniProt Q8NFJ9
Wiki BBS1
Mutations in this gene have been observed in patients with the major form (type 1) of Bardet-Biedl syndrome. BBS1 may play a role in eye, limb, cardiac and reproductive system development.
By positional cloning, Mykytyn et al. (2002) identified the gene that is mutant in Bardet-Biedl syndrome-1. It was selected for further examination because its encoded protein had modest similarity to the BBS2 protein sequence. The gene consists of 3,370 bp with an open reading frame of 593 codons. By Northern blot analysis, Mykytyn et al. (2002) demonstrated that BBS1 is ubiquitously expressed, including expression in fetal tissues, testes, retina, and adipose tissue. The pattern of expression is similar to that seen for the 3 previously identified BBS genes: BBS2, BBS4, and BBS6 (MKKS).

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Bardet Biedl Syndrome Protein 1 (BBS1) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Bardet Biedl Syndrome Protein 1 (BBS1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Bardet Biedl Syndrome Protein 1 (BBS1) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Bardet Biedl Syndrome Protein 1 (BBS1) CLIA Kit Customized Service Offer
n/a ELISA Kit for Bardet Biedl Syndrome Protein 1 (BBS1) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Bardet Biedl Syndrome Protein 1 (BBS1) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Bardet Biedl Syndrome Protein 1 (BBS1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Bardet Biedl Syndrome Protein 1 (BBS1) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Bardet Biedl Syndrome Protein 1 (BBS1) CLIA Kit Customized Service Offer
n/a ELISA Kit for Bardet Biedl Syndrome Protein 1 (BBS1) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Bardet Biedl Syndrome Protein 1 (BBS1) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Bardet Biedl Syndrome Protein 1 (BBS1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Bardet Biedl Syndrome Protein 1 (BBS1) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Bardet Biedl Syndrome Protein 1 (BBS1) CLIA Kit Customized Service Offer
n/a ELISA Kit for Bardet Biedl Syndrome Protein 1 (BBS1) ELISA Kit Customized Service Offer
  1. "Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome."Nat. Genet. 31:435-438(2002) [PubMed] [Europe PMC] [Abstract]
  2. "Complete sequencing and characterization of 21,243 full-length human cDNAs." Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
  3. "Human chromosome 11 DNA sequence and analysis including novel gene identification." Nature 440:497-500(2006) [PubMed] [Europe PMC] [Abstract]
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  5. "Dissection of epistasis in oligogenic Bardet-Biedl syndrome."Nature 439:326-330(2006) [PubMed] [Europe PMC] [Abstract]
  6. "A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis."Cell 129:1201-1213(2007) [PubMed] [Europe PMC] [Abstract]
  7. "Novel interaction partners of Bardet-Biedl syndrome proteins."Cell Motil. Cytoskeleton 65:143-155(2008) [PubMed] [Europe PMC] [Abstract]
  8. "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
  9. "A novel protein LZTFL1 regulates ciliary trafficking of the BBSome and Smoothened."PLoS Genet. 7:E1002358-E1002358(2011) [PubMed] [Europe PMC] [Abstract]
  10. "Bardet-Biedl syndrome proteins 1 and 3 regulate the ciliary trafficking of polycystic kidney disease 1 protein."Hum. Mol. Genet. 23:5441-5451(2014) [PubMed] [Europe PMC] [Abstract]
  11. "Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1)." Am. J. Hum. Genet. 72:429-437(2003) [PubMed] [Europe PMC] [Abstract]
  12. "Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2."Am. J. Hum. Genet. 72:650-658(2003) [PubMed] [Europe PMC] [Abstract]
  13. "Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome."Am. J. Hum. Genet. 72:1187-1199(2003) [PubMed] [Europe PMC] [Abstract]
  14. "Further support for digenic inheritance in Bardet-Biedl syndrome."J. Med. Genet. 40:E104-E104(2003) [PubMed] [Europe PMC] [Abstract]
  15. "Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort." Eur. J. Hum. Genet. 13:607-616(2005) [PubMed] [Europe PMC] [Abstract]
  16. "Mutation analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals."Hum. Genet. 129:79-90(2011) [PubMed] [Europe PMC] [Abstract]
  17. "TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum." Nat. Genet. 43:189-196(2011) [PubMed] [Europe PMC] [Abstract]
  18. "BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition." Hum. Mutat. 32:610-619(2011) [PubMed] [Europe PMC] [Abstract]