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

Gene ID: 100503572, updated on 2-Nov-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, Nov 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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