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Bbs1
Gene Detail
Symbol

Name
ID
Bbs1
Bardet-Biedl syndrome 1 (human)
MGI:1277215
Synonyms
D19Ertd609e
Feature Type
protein coding gene
Genetic Map
Chromosome 19
4.14 cM
Detailed Genetic Map ± 1 cM


Mapping data(3)
Sequence Map
Chr19:4886898-4906627 bp, - strand
From Ensembl annotation of GRCm38

  19730 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:11641  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 cattle; 1 dog; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: BBS1
Gene Tree: Bbs1

Human
homologs
BBS1, Bardet-Biedl syndrome 1
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 582
neXtProt AC: NX_Q8NFJ9

Human Synonyms: BBS2L2

Human Chr (Location): 11q13; chr11:66510648-66533613 (+)  GRCh38.p2

Disease Associations: (1) Diseases Associated with Human BBS1

Mutations,
alleles, and
phenotypes
All mutations/alleles(56) : Gene trapped(51) Targeted(4) Transgenic(1)
Incidental mutations (data from Mutagenetix , APF )
 
Homozygous null mice display partial embryonic lethality, low body weight before weaning, obesity after weaning, retinal degeneration, and abnormal olfactory epithelium and neurons.
 
Human Diseases Modeled in Mice Using Bbs1 (2)    Mutations Annotated to Human Diseases (3)    Phenotype Images(3)
Interactions
Bbs1 interacts with 328 markers (Mir1a-1, Mir1a-2, Mir7-1, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (52 annotations)
Process adult behavior, brain morphogenesis, ...
Component axoneme, BBSome, ...
Function patched binding, phosphoprotein binding, ...
This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase
Expression
Literature Summary: (2 records)
Data Summary: Results (40)    Tissues (26)    Images (13)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 38
RT-PCR 2
cDNA source data(29)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase bbs1    NEW 
Molecular
reagents
All nucleic(31) cDNA(29) Primer pair(2)
Microarray probesets(4)
Other database
links
Ensembl Gene Model ENSMUSG00000006464 (Evidence)
Entrez Gene 52028 (Evidence)
UniGene 23636
DFCI TC1582728, TC1600927
DoTS DT.101176176, DT.483028, DT.91328171
NIA Mouse Gene Index U239365
Consensus CDS Project CCDS29442.1
International Mouse Phenotyping Consortium Status Bbs1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000006464 Ensembl Gene Model | MGI Sequence Detail 19730 C57BL/6J ±  kb
transcript ENSMUST00000053506 Ensembl | MGI Sequence Detail 5581 Not Applicable 
polypeptide ENSMUSP00000055321 Ensembl | MGI Sequence Detail 593 Not Applicable 

For the selected sequences
All sequences(30) RefSeq(4) UniProt(3)
Polymorphisms
SNPs within 2kb(170 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR028784 Bardet-Biedl syndrome 1 protein
InterPro IPR011047 Quinonprotein alcohol dehydrogenase-like superfamily
Protein Ontology PR:000004663 Bardet-Biedl syndrome 1 protein
References
(Earliest) J:60984 Ko MS, et al., Large-scale cDNA analysis reveals phased gene expression patterns during preimplantation mouse development. Development. 2000 Apr;127(8):1737-49
(Latest) J:214168 Seo S, et al., Subretinal gene therapy of mice with Bardet-Biedl syndrome type 1. Invest Ophthalmol Vis Sci. 2013;54(9):6118-32
All references(53)
Disease annotation references (3)
Other
accession IDs
MGI:2147549

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
08/25/2015
MGI 6.0
The Jackson Laboratory