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: 21 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
    PLASMIDS 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 (27)