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Gene · 582

BBS1: Bardet-Biedl syndrome 1

12 sourcesgene-search-2026-11-11-0.2.0

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ConductScience Library. BBS1: Bardet-Biedl syndrome 1. Genes, record 582. Release gene-search-2026-11-11-0.2.0, 11 Nov 2026. https://conductscience.org/library/genes/582

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Gene

Symbol
BBS1
HGNC
Name
Bardet-Biedl syndrome 1
HGNC
NCBI Gene ID
582
NCBI Gene
HGNC ID
HGNC:966
HGNC
Ensembl
ENSG00000174483
NCBI Gene
Aliases
BBS2L2, FLJ23590
NCBI Gene
Type
protein-coding
NCBI Gene

Proteins1

Reviewed human proteins whose Swiss-Prot entry states the gene.

UniProt entryProteinLengthStructuresGene stated in
Q8NFJ9BBSome complex member BBS15931Ensembl, GeneID, HGNC

Source UniProt

Patents28

Patents whose sequence listing contains this protein's exact sequence. A patent can list a sequence without claiming it.

PublicationPublishedSEQ ID NOProteinSource
JP 2026515744 A2026-05-19198Q8NFJ9Espacenet
JP 2026004568 A2026-01-1438582Q8NFJ9Espacenet
EP 4667578 A22025-12-24106Q8NFJ9Espacenet
EP 4650780 A22025-11-195119Q8NFJ9Espacenet
EP 4641201 A22025-10-294711Q8NFJ9Espacenet
JP 2025131621 A2025-09-09106Q8NFJ9Espacenet
JP 2025120285 A2025-08-159Q8NFJ9Espacenet
JP 2025517969 A2025-06-124711Q8NFJ9Espacenet
JP 2025517970 A2025-06-125119Q8NFJ9Espacenet
JP 2025062604 A2025-04-148235Q8NFJ9Espacenet

1 to 10 of 28

See all 28 patents

Drugs0

Drugs a ChEMBL mechanism record says act on the gene's protein, through Open Targets.

None in this release.

Trials0

Trials of those drugs. A trial joins the gene only through a drug that acts on it.

None in this release.

NIH grants577

NIH grants whose papers are about the gene, through NIH's grant-paper links.

GrantTitleBBS1 papersNewest fiscal year
R01GM089933Quality Control of the cilia proteome102025
I01BX004249Neuronal Mechanisms of Obesity-Induced Hypertension62025
P30EY025580Multidisciplinary Investigations in Visual Science52025
P30CA013696Cancer Center Support Grant42025
P30DK026687New York Obesity Research Center42025
P30DK084567Mayo Center for Cell Signaling in Gastroenterology42025
R01EY022356Molecular Basis of Human Visual System Disorders42025
ZIAHD000641Physiology, Psychology, and Genetics of Obesity42025
ZIAHG200328Rare & Mosaic Disorders Molecular Research42025
P30EY010572Ophthalmology Core Facility32025

1 to 10 of 577Source NIH's project files

See all 577 nih grants

Papers946

Newest first. Swiss-Prot's references are curated; PubTator's text mining finds papers that name the gene, not always ones about it.

TitleJournalYearPMIDFound bySource
A comprehensive overview of genetic mutations in Iranian patients with Bardet-Biedl syndrome.Mol Genet Metab Rep202642774553PubTator, text miningPubMed
Whole-exome sequencing-centered genetic evaluation for early-onset obesity in Chinese children: a retrospective single-center cohort.Transl Pediatr202642724349PubTator, text miningPubMed
Mesenchymal drift in ciliopathy iPSC-derived RPE reveals a convergent pathogenic cell state.Cell Rep202642667617PubTator, text miningPubMed
Clinical, Genetic, and Endocrine Features of Bardet-Biedl Syndrome in a Pediatric and Adult Cohort.Am J Med Genet A202642596080PubTator, text miningPubMed
Smoking-Related Clinical and Molecular Abnormalities in Idiopathic Pulmonary Fibrosis-Associated Pulmonary Hypertension.Pulm Circ202642454257PubTator, text miningPubMed
Atypical Prenatal Phenotypic Spectrum: A Case Series of Four Unique Presentations With Genetic and Diagnostic Insights.Clin Genet202642438042PubTator, text miningPubMed
Whole Exome Sequencing Reveals Promising Genes Associated with Congenital Renal Parenchymal Anomalies in Greek Children.Children (Basel)202642353922PubTator, text miningPubMed
Bardet-Biedl syndrome 1 mutations differentially impact BBSome integrity and ciliary trafficking.Cell Commun Signal202642316211PubTator, text miningPubMed
Clinical heterogeneity associated with Bardet-Biedl syndrome-related genes in presumed non-syndromic inherited retinal disease.Front Cell Dev Biol202642311504PubTator, text miningPubMed
Expanding the Utility of Exome Sequencing in Preventive and Population Genetics.Am J Med Genet A202642212615PubTator, text miningPubMed

1 to 10 of 946

See all 946 papers

Sources 12

  • ClinicalTrials.gov's posted results, through CTTI's AACTFreely available. Acknowledgement requested
  • ChEMBL, through Open TargetsCC BY-SA 3.0
  • ClinicalTrials.govNo license stated
  • EMBL-EBI's patent proteinsNo added restrictions. Attribution expected
  • GenBank's patent filesNo restrictions from NCBI. Submitters may hold rights
  • HGNCCC0
  • NCBI GenePublic domain (US government)
  • NIH's project files and grant-paper linksPublic domain
  • Open TargetsCC0 1.0
  • PubMedNLM's terms
  • PubTator 3Public domain
  • UniProtCC BY 4.0
Each source's terms
  • ClinicalTrials.gov's posted results, through CTTI's AACTClinicalTrials.gov data via Aggregate Analysis of ClinicalTrials.gov (AACT), CTTI. CTTI makes its materials freely available and requests acknowledgement. https://aact.ctti-clinicaltrials.org/documentation/299
  • ChEMBL, through Open TargetsCC BY-SA 3.0, for the parts from ChEMBL. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
  • ClinicalTrials.govnone stated
  • EMBL-EBI's patent proteinsEMBL-EBI's patent protein files from the EPO, JPO, KIPO and USPTO. EMBL-EBI: "EMBL-EBI itself places no additional restrictions on the use or redistribution of the data available via its Data Resources and Tools other than those provided by the original data owners" and "EMBL-EBI expects attribution (e.g. in publications, services or products) for the use of any of its Data Resources and Tools." Read on 11 Nov 2026 at https://www.ebi.ac.uk/about/terms-of-use
  • GenBank's patent filesGenBank's patent files. NCBI: "NCBI places no restrictions on the use or distribution of the GenBank data. However, some submitters may claim patent, copyright, or other intellectual property rights in all or a portion of the data they have submitted." Read on 11 Nov 2026 at https://www.ncbi.nlm.nih.gov/genbank/about/
  • HGNCCC0: https://www.genenames.org/about/license/
  • NCBI GeneNone named for the file. NCBI says information created by or for the US government on its site is in the public domain, and asks that NLM be acknowledged: https://www.ncbi.nlm.nih.gov/home/about/policies/
  • NIH's project files and grant-paper linksPublic domain (NIH RePORTER)
  • Open TargetsCC0 1.0. Open Targets asks that users cite its latest paper: Buniello et al. 2025, Open Targets Platform: facilitating therapeutic hypotheses building in drug discovery, Nucleic Acids Research 53(D1):D1467, PMID 39657122. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
  • PubMedNLM's terms
  • PubTator 3Public domain
  • UniProtCC BY 4.0. UniProt's licence file: "All databases and documents in the UniProt FTP directory may be copied and redistributed freely, without advance permission, provided that this copyright statement is reproduced with each copy." UniProt asks that users cite its latest paper: The UniProt Consortium, UniProt: the Universal Protein Knowledgebase in 2025, Nucleic Acids Research 53:D609-D617, https://doi.org/10.1093/nar/gkae1010. Read on 9 Nov 2026 at https://www.uniprot.org/help/license

ClinicalTrials.gov's data carry an international copyright outside the United States: https://clinicaltrials.gov/about-site/terms-conditions.

For software

Read this gene from software.

The record and each of its lists are JSON, twenty rows a page. No key.

GET https://conductscience.org/api/genes/v1/582

GET https://conductscience.org/api/genes/v1/582/patents?page=2