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    Bbip1 BBSome interacting protein 1 [ Mus musculus (house mouse) ]

    Gene ID: 100503572, updated on 28-Oct-2024

    Summary

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    Official Symbol
    Bbip1provided by MGI
    Official Full Name
    BBSome interacting protein 1provided by MGI
    Primary source
    MGI:MGI:1913610
    See related
    Ensembl:ENSMUSG00000084957 AllianceGenome:MGI:1913610
    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
    Ncrna00081; 2310002J21Rik; 2610002B11Rik; 4930560M04Rik
    Summary
    Acts upstream of or within several processes, including B cell homeostasis; eating behavior; and receptor localization to non-motile cilium. Predicted to be located in ciliary membrane and cytoplasm. Predicted to be part of BBSome. Used to study Bardet-Biedl syndrome 18. Human ortholog(s) of this gene implicated in Bardet-Biedl syndrome 18. Orthologous to human BBIP1 (BBSome interacting protein 1). [provided by Alliance of Genome Resources, Oct 2024]
    Annotation information
    Note: This gene, previously thought to be non-coding and described as Ncrna00081, is represented as protein coding based on evaluation of the transcript data and evidence of protein detection presented in PMID: 19081074. [23 Dec 2011]
    Expression
    Broad expression in CNS E18 (RPKM 14.1), CNS E14 (RPKM 11.2) and 20 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Bbip1 in Genome Data Viewer
    Location:
    19 D2; 19 48.8 cM
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 19 NC_000085.7 (53918087..53933058, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 19 NC_000085.6 (53929656..53944627, complement)

    Chromosome 19 - NC_000085.7Genomic Context describing neighboring genes Neighboring gene RNA binding motif protein 20 Neighboring gene STARR-seq mESC enhancer starr_46468 Neighboring gene STARR-seq mESC enhancer starr_46470 Neighboring gene predicted gene 16299 Neighboring gene STARR-positive B cell enhancer ABC_E8757 Neighboring gene STARR-positive B cell enhancer ABC_E11040 Neighboring gene predicted gene, 30990 Neighboring gene CapStarr-seq enhancer MGSCv37_chr19:53965483-53965684 Neighboring gene CapStarr-seq enhancer MGSCv37_chr19:53968181-53968334 Neighboring gene CapStarr-seq enhancer MGSCv37_chr19:53968382-53968491 Neighboring gene STARR-positive B cell enhancer ABC_E622 Neighboring gene STARR-seq mESC enhancer starr_46471 Neighboring gene STARR-seq mESC enhancer starr_46472 Neighboring gene programmed cell death 4 Neighboring gene STARR-seq mESC enhancer starr_46473 Neighboring gene Shoc2, leucine rich repeat scaffold protein Neighboring gene STARR-seq mESC enhancer starr_46474 Neighboring gene STARR-seq mESC enhancer starr_46476 Neighboring gene adrenergic receptor, alpha 2a Neighboring gene STARR-seq mESC enhancer starr_46477 Neighboring gene predicted gene, 41865

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Bardet-Biedl Syndrome ciliopathy is linked to altered hematopoiesis and dysregulated self-tolerance. Tsyklauri O, et al. EMBO Rep, 2021 Feb 3. PMID 33426789, Free PMC Article
    2. Impaired ADAMTS9 secretion: A potential mechanism for eye defects in Peters Plus Syndrome. Dubail J, et al. Sci Rep, 2016 Sep 30. PMID 27687499, Free PMC Article
    3. Neuropeptide Y family receptors traffic via the Bardet-Biedl syndrome pathway to signal in neuronal primary cilia. Loktev AV, et al. Cell Rep, 2013 Dec 12. PMID 24316073
    4. A BBSome subunit links ciliogenesis, microtubule stability, and acetylation. Loktev AV, et al. Dev Cell, 2008 Dec. PMID 19081074
    5. Mouse Models of Inherited Retinal Degeneration with Photoreceptor Cell Loss. Collin GB, et al. Cells, 2020 Apr 10. PMID 32290105, Free PMC Article

    See all (21) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Variation

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    Alleles

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

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
    		  
    Process Evidence Code Pubs
    acts_upstream_of_or_within B cell homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within Wnt signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cilium assembly ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within eating behavior IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within erythrocyte homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within gene expression IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within leukocyte homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within lymphocyte homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within myeloid cell homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in receptor localization to non-motile cilium IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within receptor localization to non-motile cilium IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of BBSome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of BBSome ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in ciliary membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    BBSome-interacting protein 1
    Names
    BBSome-interacting protein of 10 kDa

    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_001195338.1 → NP_001182267.1  BBSome-interacting protein 1

      See identical proteins and their annotated locations for NP_001182267.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC117612, BC062276
      Consensus CDS
      CCDS57147.1
      UniProtKB/TrEMBL
      J3QMK2
      Related
      ENSMUSP00000158142.2, ENSMUST00000236370.2
      Conserved Domains (1) summary
      pfam14777
      Location:10 → 64
      BBIP10; Cilia BBSome complex subunit 10

    2. NM_001195348.1 → NP_001182277.1  BBSome-interacting protein 1

      See identical proteins and their annotated locations for NP_001182277.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC117612, AK010048
      Consensus CDS
      CCDS57147.1
      UniProtKB/TrEMBL
      J3QMK2
      Related
      ENSMUSP00000136324.2, ENSMUST00000135402.4
      Conserved Domains (1) summary
      pfam14777
      Location:10 → 64
      BBIP10; Cilia BBSome complex subunit 10

    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_000085.7 Reference GRCm39 C57BL/6J

      Range
      53918087..53933058 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006526547.3 → XP_006526610.1  BBSome-interacting protein 1 isoform X1

      Conserved Domains (1) summary
      pfam14777
      Location:38 → 92
      BBIP10; Cilia BBSome complex subunit 10

    2. XM_006526550.3 → XP_006526613.1  BBSome-interacting protein 1 isoform X3

      See identical proteins and their annotated locations for XP_006526613.1

      UniProtKB/TrEMBL
      J3QMK2
      Conserved Domains (1) summary
      pfam14777
      Location:10 → 64
      BBIP10; Cilia BBSome complex subunit 10

    3. XM_036161364.1 → XP_036017257.1  BBSome-interacting protein 1 isoform X2

      Conserved Domains (1) summary
      pfam14777
      Location:21 → 75
      BBIP10; Cilia BBSome complex subunit 10

    4. XM_030250674.1 → XP_030106534.1  BBSome-interacting protein 1 isoform X3

      UniProtKB/TrEMBL
      J3QMK2
      Conserved Domains (1) summary
      pfam14777
      Location:10 → 64
      BBIP10; Cilia BBSome complex subunit 10
    Nucleotide Protein Strain
    Heading Accession and Version

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