ZFIN ID: ZDB-GENE-060126-1
Your Input Welcome
We welcome your input and comments. Please use this form to recommend updates to the information in ZFIN. We appreciate as much detail as possible and references as appropriate. We will review your comments promptly.
Please check the highlighted fields and try again.
Thank you for submitting comments. Your input has been emailed to ZFIN curators who may contact you if additional information is required.
Oops. Something went wrong. Please try again later.
Gene Name: Bardet-Biedl syndrome 1
Gene Symbol: bbs1
Sequence Ontology ID : SO:0000704

{{control.fieldName}} Edit

ID: {{control.nomenID}}
{{control.fieldName}}:
Reason:
Comments:

Attributions

{{pub.zdbID}}
Previous Name: im:7144669

Add new Alias

Alias
Attribution

Attributions for Alias: {{control.newAlias}}

{{pub.zdbID}}

Delete Alias:

(Including Attributions)
Location: Chr: 21 Mapping Details/Browsers
Nomenclature History
GENE EXPRESSION
All Expression Data: 2 figures from 2 publications
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 Adult (90d-730d, breeding adult)
  eye, kidney, testis, unspecified (all 5) expand
MUTATIONS AND SEQUENCE TARGETING REAGENTS
Allele Type Localization Consequence Mutagen Suppliers
sa13530 Point Mutation Unknown Premature Stop ENU
  • Zebrafish International Resource Center (ZIRC) (order this)
  • European Zebrafish Resource Center (EZRC) (order this)
    • sa16994 Point Mutation Unknown Splice Site ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
    • sa29611 Point Mutation Unknown Splice Site ENU
    sa37331 Point Mutation Unknown Splice Site ENU
    sa43663 Point Mutation Unknown Splice Site ENU
    Targeting reagents: CRISPR1-bbs1 (1), MO1-bbs1 (1), MO2-bbs1 (1), MO3-bbs1 (1), MO4-bbs1 (1)
    PHENOTYPE
    Data: 30 figures from 10 publications
    Observed in: axis, brain, cell migration involved in gastrulation, cilium movement (all 35) expand
    DISEASE ASSOCIATED WITH bbs1 HUMAN ORTHOLOG
    Disease Ontology Term OMIM Term OMIM Phenotype ID
    Bardet-Biedl syndrome 1 Bardet-Biedl syndrome 1 209900
    GENE ONTOLOGY
    Ontology GO Term
    Biological Process Kupffer's vesicle development (more)
    Cellular Component BBSome (more)
    Molecular Function patched binding (more)
    GO Terms (all 22)
    PROTEIN FAMILIES, DOMAINS AND SITES
  • InterPro:IPR011047 (1)
  • InterPro:IPR015943 (1)
  • InterPro:IPR028784 (1)
  • InterPro:IPR032728 (1)
    		•
  • Pfam:PF14779 (1)
    		•
    TRANSCRIPTS
    Type Name Length (bp) Analysis
    mRNA bbs1-001 (1) 2711
    Select Tool
    GENE PRODUCT DESCRIPTION No description available
    INTERACTIONS AND PATHWAYSNo data available
    ANTIBODIESNo data available
    PLASMIDSNo data available
    CONSTRUCTS WITH SEQUENCES FROM bbs1 No data available
    SEGMENT (CLONE AND PROBE) RELATIONSHIPS
    bbs1Contained in: [BAC] DKEY-197A18 (order this), DKEYP-50D11 (1)
    bbs1Encodes: [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) 2781bp
    Select Tool
    Genomic GenBank:BX511175 (1) 134295bp
    Select Tool
    Polypeptide UniProtKB:A4QP86 (1) 588aa
    Select Tool
    Sequence Clusters UniGene:43752 (1)
    Sequence Information (all 19)
    OTHER bbs1 GENE PAGES
  • Gene:568986 (1)
  • VEGA:OTTDARG00000028281 (1)
  • Ensembl(GRCz10):ENSDARG00000075169 (1)
    • ORTHOLOGY for bbs1 (Chr: 21)
    CITATIONS (29)