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Gene

BBS1

Bardet-Biedl syndrome 1

Summary

Cytogenetic location
11q13.2
Coordinates
Chromosome 11: 66,510,635–66,533,598 (GRCh38)
Exons
17 exons across 23 kb
Protein
593 amino acids
Inheritance
Autosomal recessive
Also known as
FLJ23590
MANE Select transcript
ENST00000318312.12NM_024649.5
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated report relevant to this gene

  • Bardet-Biedl and Alström Syndromes

    • Bardet-Biedl syndromeAutosomal recessive

      A recessive ciliopathy caused by variants in more than 20 genes (most often BBS1 and BBS10) that causes retinal dystrophy, obesity, extra fingers or toes, kidney anomalies and learning difficulties.

      • 7 GenCC submitters rate it definitive or strong
      What knowing changes

      Diagnosis allows eye, kidney and diabetes surveillance, and setmelanotide is an approved treatment for obesity in Bardet-Biedl syndrome.

Inheritance

Autosomal recessive
It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.

How BBS1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 11, with a bracket where BBS1 sits. BBS1 and 35 genes near it on chromosome 11, from 66,022,117 to 67,022,116.Chromosome 1111q13.2p15.5p15.4p15.3p15.2p15.1p14.3p14.2p14.1p13p12p11.2p11.12p11.11q11q12.1q12.2q12.3q13.1q13.2q13.3q13.4q13.5q14.1q14.2q14.3q21q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.3q2566.2 Mb66.4 Mb66.6 Mb66.8 Mb67 MbCATSPER1: 66,016,752–66,026,479, reverse strandCATSPER1GAL3ST3: 66,040,748–66,049,502, reverse strandGAL3ST3SF3B2: 66,050,729–66,069,308, forward strandSF3B2PACS1: 66,070,017–66,248,638, forward strandPACS1KLC2: 66,257,267–66,267,862, forward strandKLC2RAB1B: 66,268,586–66,277,492, forward strandRAB1BCNIH2: 66,278,170–66,285,301, forward strandCNIH2YIF1A: 66,284,253–66,289,688, reverse strandYIF1ATMEM151A: 66,291,832–66,299,036, forward strandCD248: 66,314,494–66,317,044, reverse strandRIN1: 66,330,241–66,336,840, reverse strandRIN1BRMS1: 66,337,332–66,345,136, reverse strandBRMS1B4GAT1: 66,345,374–66,347,856, reverse strandB4GAT1SLC29A2: 66,360,101–66,372,476, reverse strandSLC29A2NPAS4: 66,421,033–66,426,707, forward strandNPAS4MRPL11: 66,435,075–66,466,738, reverse strandMRPL11PELI3: 66,466,303–66,478,998, forward strandPELI3DPP3: 66,479,990–66,510,188, forward strandDPP3: 66,509,079–66,533,613, forward strandBBS1: 66,510,635–66,533,598, forward strandBBS1ZDHHC24: 66,520,620–66,546,244, reverse strandZDHHC24ACTN3: 66,546,395–66,563,334, forward strandACTN3CTSF: 66,563,462–66,568,879, reverse strandCTSFCCDC87: 66,590,176–66,593,063, reverse strandCCDC87CCS: 66,592,843–66,606,703, forward strandCCSRBM14: 66,616,594–66,629,934, forward strandRBM14RBM14-RBM4: 66,616,626–66,646,469, forward strandRBM14-RBM4RBM4: 66,637,771–66,668,380, forward strandRBM4RBM4B: 66,664,994–66,677,925, reverse strandRBM4BSPTBN2: 66,682,496–66,744,670, reverse strandSPTBN2TOP6BL: 66,744,451–66,843,516, forward strandTOP6BLRCE1: 66,842,835–66,848,159, forward strandRCE1PC: 66,848,208–66,958,524, reverse strandPCLRFN4: 66,856,546–66,860,475, forward strandLRFN4C11orf86: 66,975,272–66,977,009, forward strandC11orf86SYT12: 67,006,772–67,051,110, forward strandSYT12Diagram of BBS1: 17 exons on the forward strand of chromosome 11Exon 1: 8 known disease-causing sitesExon 2: 8 known disease-causing sitesExon 3: 3 known disease-causing sitesExon 4: 23 known disease-causing sitesExon 5: 5 known disease-causing sitesExon 6: 1 known disease-causing siteExon 7: 7 known disease-causing sitesExon 8: 12 known disease-causing sitesExon 9: 13 known disease-causing sitesExon 10: 10 known disease-causing sitesExon 11: 16 known disease-causing sitesExon 12: 8 known disease-causing sitesExon 13: 16 known disease-causing sitesExon 14: 9 known disease-causing sitesExon 15: 10 known disease-causing sitesExon 16: 7 known disease-causing sitesExon 17: 2 known disease-causing sitesExon 1: 66,510,635–66,510,706, 72 basesExon 2: 66,511,013–66,511,089, 77 basesExon 3: 66,511,205–66,511,239, 35 basesExon 4: 66,514,406–66,514,678, 273 basesExon 5: 66,515,540–66,515,586, 47 basesExon 6: 66,515,693–66,515,731, 39 basesExon 7: 66,515,861–66,515,933, 73 basesExon 8: 66,519,617–66,519,748, 132 basesExon 9: 66,521,270–66,521,376, 107 basesExon 10: 66,523,456–66,523,576, 121 basesExon 11: 66,523,724–66,523,882, 159 basesExon 12: 66,526,123–66,526,192, 70 basesExon 13: 66,526,649–66,526,807, 159 basesExon 14: 66,529,819–66,529,952, 134 basesExon 15: 66,530,894–66,531,028, 135 basesExon 16: 66,531,656–66,531,742, 87 basesExon 17: 66,531,951–66,533,598, 1,648 bases1246810121416175′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 3.4 kb of the gene's 23 kb; 1,782 of those bases code for the protein.

How a genome test reads BBS1

205

positions in BBS1 where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 23 kb of BBS1, introns included, not only the 3.4 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). BBS1 gene: Bardet-Biedl syndrome 1. Retrieved 16 October 2026, from https://dantelabs.com/genes/bbs1

Vancouver

Dante Labs. BBS1 gene: Bardet-Biedl syndrome 1 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/bbs1

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