Research
General Information
ZIRC
ZFIN ID: ZDB-GENE-060126-1
Gene Name: Bardet-Biedl syndrome 1
Gene Symbol: bbs1
Previous Name: im:7144669
Location: Chr: 21   Details
Nomenclature History
GENE EXPRESSION
Directly Submitted Expression Data: 1 figure (1 image) from Thisse et al., 2004 [IMAGE:7144669]
Wild-type Stages, Structures: Zygote:1-cell (0.0h-0.75h) to Hatching:Pec-fin (60.0h-72.0h)
  unspecified
MUTANTS AND TARGETED KNOCKDOWNS
Alleles: sa13530, sa16994
Knockdown reagents: MO1-bbs1 (1), MO2-bbs1 (1), MO3-bbs1 (1), MO4-bbs1 (1)
PHENOTYPE
Data: 20 figures from 9 publications
Observed in: axis, brain, cell migration involved in gastrulation, convergent extension (all 25) expand

Phenotype of Human Orthologue OMIM Phenotype ID
Bardet-Biedl syndrome 1 209900
GENE ONTOLOGY
Ontology GO Term
Biological Process Kupffer's vesicle development (more)
Cellular Component BBSome (more)
Molecular Function molecular_function (more)
GO Terms (all 15)
PROTEIN FAMILIES, DOMAINS AND SITES
  • InterPro:IPR011047 (1)
  • InterPro:IPR027295 (1)
  • InterPro:IPR028784 (1)
  • TRANSCRIPTS
    Type Name Length (bp) Analysis
    mRNA bbs1-001 (1) 2711
    GENE PRODUCT DESCRIPTION No description available
    ANTIBODIES No data available
    CONSTRUCTS WITH SEQUENCES FROM bbs1 No data available
    SEGMENT (CLONE AND PROBE) RELATIONSHIPS
    bbs1 Contained in: [BAC] DKEY-197A18, DKEYP-50D11 (1)
    bbs1 Encodes: [EST] IMAGE:7144669 (1) (order this)
    [cDNA] MGC:163029 (1) (order this), MGC:193670 (1) (order this), MGC:193678 (1) (order this)
    SEQUENCE INFORMATION
    Type Accession # Length (bp/aa) Analysis
    RNA RefSeq:NM_001098251 (1) 2781 bp
    Genomic GenBank:BX511175 (1) 134295 bp
    Select Tool
    Polypeptide UniProtKB:A4QP86 (1) 588 aa
    Sequence Clusters UniGene:43752 (1)
    Sequence Information (all 19)
    OTHER bbs1 GENE PAGES
  • Gene:568986 (1)
  • VEGA:OTTDARG00000028281 (1)
  • Ensembl(Zv9):ENSDARG00000075169 (1)
  • ORTHOLOGY
      Evidence
    Species Symbol Chr (Position) Accession # AA
    Zebrafish bbs1 21  
    Human BBS1 11 (11q13)
  • OMIM:209901
  • Gene:582
  • Orthology Details
    CITATIONS (26)