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Bbs5 Bardet-Biedl syndrome 5 [ Mus musculus (house mouse) ]

Gene ID: 72569, updated on 2-Nov-2024

Summary

Official Symbol
Bbs5provided by MGI
Official Full Name
Bardet-Biedl syndrome 5provided by MGI
Primary source
MGI:MGI:1919819
See related
Ensembl:ENSMUSG00000063145 AllianceGenome:MGI:1919819
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
1700049I01Rik; 2700023J09Rik
Summary
Predicted to enable RNA polymerase II-specific DNA-binding transcription factor binding activity and phosphatidylinositol-3-phosphate binding activity. Predicted to be involved in cilium assembly and intracellular transport. Located in axoneme; centriolar satellite; and ciliary basal body. Part of BBSome. Is expressed in brain; spinal cord; and testis. Used to study Bardet-Biedl syndrome 5. Human ortholog(s) of this gene implicated in Bardet-Biedl syndrome and Bardet-Biedl syndrome 5. Orthologous to human BBS5 (Bardet-Biedl syndrome 5). [provided by Alliance of Genome Resources, Nov 2024]
Expression
Biased expression in testis adult (RPKM 7.7), CNS E18 (RPKM 2.8) and 13 other tissues See more
Orthologs
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Genomic context

See Bbs5 in Genome Data Viewer
Location:
2 C2; 2 40.91 cM
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 2 NC_000068.8 (69477193..69497915)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 2 NC_000068.7 (69646848..69667571)

Chromosome 2 - NC_000068.8Genomic Context describing neighboring genes Neighboring gene predicted gene, 36393 Neighboring gene dehydrogenase/reductase 9 Neighboring gene STARR-seq mESC enhancer starr_04734 Neighboring gene STARR-seq mESC enhancer starr_04735 Neighboring gene low density lipoprotein receptor-related protein 2 Neighboring gene STARR-seq mESC enhancer starr_04736 Neighboring gene STARR-seq mESC enhancer starr_04740 Neighboring gene STARR-seq mESC enhancer starr_04741 Neighboring gene STARR-positive B cell enhancer ABC_E7822 Neighboring gene STARR-positive B cell enhancer ABC_E5928 Neighboring gene kelch-like 41 Neighboring gene STARR-seq mESC enhancer starr_04743 Neighboring gene FAST kinase domains 1

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Endonuclease-mediated (2) 
  • Targeted (4)  1 citation

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables RNA polymerase II-specific DNA-binding transcription factor binding ISO
Inferred from Sequence Orthology
more info
 
enables phosphatidylinositol-3-phosphate binding IBA
Inferred from Biological aspect of Ancestor
more info
 
enables phosphatidylinositol-3-phosphate binding IEA
Inferred from Electronic Annotation
more info
 
enables phosphatidylinositol-3-phosphate binding ISO
Inferred from Sequence Orthology
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in cell projection organization IEA
Inferred from Electronic Annotation
more info
 
involved_in cilium assembly IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in cilium assembly ISO
Inferred from Sequence Orthology
more info
 
involved_in cilium assembly NAS
Non-traceable Author Statement
more info
PubMed 
involved_in intracellular transport IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in protein transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
part_of BBSome IBA
Inferred from Biological aspect of Ancestor
more info
 
part_of BBSome IDA
Inferred from Direct Assay
more info
PubMed 
part_of BBSome IEA
Inferred from Electronic Annotation
more info
 
part_of BBSome ISO
Inferred from Sequence Orthology
more info
 
located_in axoneme IDA
Inferred from Direct Assay
more info
PubMed 
located_in centriolar satellite IDA
Inferred from Direct Assay
more info
PubMed 
located_in centriolar satellite IEA
Inferred from Electronic Annotation
more info
 
is_active_in ciliary basal body IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in ciliary basal body IDA
Inferred from Direct Assay
more info
PubMed 
located_in ciliary basal body ISO
Inferred from Sequence Orthology
more info
PubMed 
located_in ciliary membrane IEA
Inferred from Electronic Annotation
more info
 
located_in ciliary membrane ISO
Inferred from Sequence Orthology
more info
 
located_in cilium IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
BBSome complex member BBS5; Bardet-Biedl syndrome 5 protein homolog
Names
bardet-Biedl syndrome 5 protein homolog
novel DUF1448 protein

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001362706.1NP_001349635.1  BBSome complex member BBS5 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AK006743, BE950385
    Conserved Domains (1) summary
    pfam07289
    Location:1204
    BBL5; Bardet-Biedl syndrome 5 protein
  2. NM_028284.3NP_082560.1  BBSome complex member BBS5 isoform 1

    See identical proteins and their annotated locations for NP_082560.1

    Status: VALIDATED

    Source sequence(s)
    AL929083
    Consensus CDS
    CCDS16094.1
    UniProtKB/Swiss-Prot
    A2AUC7, Q9CZQ9
    UniProtKB/TrEMBL
    A2AUC6
    Related
    ENSMUSP00000074494.3, ENSMUST00000074963.9
    Conserved Domains (2) summary
    smart00683
    Location:158212
    DM16; Repeats in sea squirt COS41.4, worm R01H10.6, fly CG1126 etc
    pfam07289
    Location:7339
    DUF1448; Protein of unknown function (DUF1448)

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000068.8 Reference GRCm39 C57BL/6J

    Range
    69477193..69497915
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_036162606.1XP_036018499.1  Bardet-Biedl syndrome 5 protein homolog isoform X1

    Conserved Domains (1) summary
    pfam07289
    Location:88287
    BBL5; Bardet-Biedl syndrome 5 protein

RNA

  1. XR_004940743.1 RNA Sequence