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Bbs9 Bardet-Biedl syndrome 9 [ Mus musculus (house mouse) ]

Gene ID: 319845, updated on 21-Apr-2024

Summary

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Official Symbol
Bbs9provided by MGI
Official Full Name
Bardet-Biedl syndrome 9provided by MGI
Primary source
MGI:MGI:2442833
See related
Ensembl:ENSMUSG00000035919 AllianceGenome:MGI:2442833
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
E130103I17Rik
Summary
Involved in cilium assembly. Acts upstream of or within fat cell differentiation. Located in membrane. Part of BBSome. Is expressed in midgut; nervous system; sensory organ; and spleen. Human ortholog(s) of this gene implicated in Bardet-Biedl syndrome; Bardet-Biedl syndrome 9; craniosynostosis; and primary ovarian insufficiency. Orthologous to human BBS9 (Bardet-Biedl syndrome 9). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in testis adult (RPKM 9.5), CNS E18 (RPKM 5.2) and 26 other tissues See more
Orthologs
human all
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Genomic context

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Location:
9 A3; 9 9.17 cM
Exon count:
27
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 9 NC_000075.7 (22386819..22799579)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 9 NC_000075.6 (22475559..22888283)

Chromosome 9 - NC_000075.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_23549 Neighboring gene STARR-positive B cell enhancer ABC_E2286 Neighboring gene anillin, actin binding protein Neighboring gene STARR-seq mESC enhancer starr_23553 Neighboring gene microtubule associated tyrosine carboxypeptidase 2 Neighboring gene STARR-seq mESC enhancer starr_23554 Neighboring gene STARR-positive B cell enhancer ABC_E5056 Neighboring gene ribosomal protein L7A pseudogene Neighboring gene retinitis pigmentosa 9 (human) Neighboring gene STARR-seq mESC enhancer starr_23558 Neighboring gene STARR-positive B cell enhancer mm9_chr9:22454080-22454380 Neighboring gene tubulin, beta 2B pseudogene Neighboring gene STARR-seq mESC enhancer starr_23559 Neighboring gene STARR-seq mESC enhancer starr_23562 Neighboring gene predicted gene, 39309 Neighboring gene STARR-seq mESC enhancer starr_23563 Neighboring gene STARR-seq mESC enhancer starr_23564 Neighboring gene STARR-seq mESC enhancer starr_23565 Neighboring gene VISTA enhancer mm1296 Neighboring gene STARR-seq mESC enhancer starr_23566 Neighboring gene predicted gene, 36685 Neighboring gene STARR-seq mESC enhancer starr_23567 Neighboring gene predicted gene, 36743 Neighboring gene VISTA enhancer mm1696

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
  • 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. Knockdown of Bardet-Biedl syndrome gene BBS9/PTHB1 leads to cilia defects. Veleri S, et al. PLoS One, 2012. PMID 22479622, Free PMC Article
  2. Comparative genome mapping in the sequence-based era: early experience with human chromosome 7. Thomas JW, et al. Genome Res, 2000 May. PMID 10810084, Free PMC Article
  3. IFT27 links the BBSome to IFT for maintenance of the ciliary signaling compartment. Eguether T, et al. Dev Cell, 2014 Nov 10. PMID 25446516, Free PMC Article
  4. DAZ-interacting Protein 1 (Dzip1) Phosphorylation by Polo-like Kinase 1 (Plk1) Regulates the Centriolar Satellite Localization of the BBSome Protein during the Cell Cycle. Zhang B, et al. J Biol Chem, 2017 Jan 27. PMID 27979967, Free PMC Article
  5. Temporal expression pattern of Bardet-Biedl syndrome genes in adipogenesis. Forti E, et al. Int J Biochem Cell Biol, 2007. PMID 17379567

See all (31) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Knockdown of Bbs9 in mouse IMCD3 cells results in the absence of cilia.
    Title: Knockdown of Bardet-Biedl syndrome gene BBS9/PTHB1 leads to cilia defects.
Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Chemically induced (ENU) (1) 
  • Endonuclease-mediated (2) 

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
acts_upstream_of_or_within 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 IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in cilium assembly NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in fat cell differentiation IEP
Inferred from Expression Pattern
more info
 PubMed 
involved_in protein localization to cilium ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within 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 ISO
Inferred from Sequence Orthology
more info
  
located_in cell projection IEA
Inferred from Electronic Annotation
more info
  
located_in centriolar satellite ISO
Inferred from Sequence Orthology
more info
  
located_in ciliary basal body ISO
Inferred from Sequence Orthology
more info
 PubMed 
located_in ciliary membrane ISO
Inferred from Sequence Orthology
more info
  
located_in ciliary transition zone ISO
Inferred from Sequence Orthology
more info
  
located_in cilium ISO
Inferred from Sequence Orthology
more info
  
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
  
located_in cytoskeleton IEA
Inferred from Electronic Annotation
more info
  
is_active_in membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in pericentriolar material ISO
Inferred from Sequence Orthology
more info
  
located_in plasma membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
protein PTHB1
Names
EST 3159894
bardet-Biedl syndrome 9 protein homolog
parathyroid hormone-responsive B1 gene protein homolog

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_001360258.1 → NP_001347187.1  protein PTHB1 isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC093926, AC113106, AC113127, AC164882
    Consensus CDS
    CCDS22928.1
    Related
    ENSMUSP00000122058.2, ENSMUST00000147712.8
    Conserved Domains (2) summary
    pfam14727
    Location:1 → 417
    PHTB1_N; PTHB1 N-terminus
    pfam14728
    Location:440 → 808
    PHTB1_C; PTHB1 C-terminus

  2. NM_001360259.1 → NP_001347188.1  protein PTHB1 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC093926, AC113106, AC113127, AC164882
    Consensus CDS
    CCDS90520.1
    UniProtKB/Swiss-Prot
    P97498, Q3UMR2, Q7TQH9, Q811G0, Q8BKD7, Q8K0T5
    Related
    ENSMUSP00000120927.2, ENSMUST00000147405.8
    Conserved Domains (2) summary
    pfam14727
    Location:1 → 417
    PHTB1_N; PTHB1 N-terminus
    pfam14728
    Location:443 → 818
    PHTB1_C; PTHB1 C-terminus

  3. NM_178415.1 → NP_848502.1  protein PTHB1 isoform 1

    See identical proteins and their annotated locations for NP_848502.1

    Status: VALIDATED

    Source sequence(s)
    AC093926, AC113106, AC113127, AC164882
    Consensus CDS
    CCDS22928.1
    UniProtKB/Swiss-Prot
    Q811G0
    Related
    ENSMUSP00000116629.2, ENSMUST00000150395.8
    Conserved Domains (2) summary
    pfam14727
    Location:1 → 417
    PHTB1_N; PTHB1 N-terminus
    pfam14728
    Location:440 → 808
    PHTB1_C; PTHB1 C-terminus

  4. NM_181316.4 → NP_851833.2  protein PTHB1 isoform 1

    See identical proteins and their annotated locations for NP_851833.2

    Status: VALIDATED

    Source sequence(s)
    AC093926, AC113106, AC113127, AC164882
    Consensus CDS
    CCDS22928.1
    UniProtKB/Swiss-Prot
    Q811G0
    Related
    ENSMUSP00000043042.10, ENSMUST00000039798.16
    Conserved Domains (2) summary
    pfam14727
    Location:1 → 417
    PHTB1_N; PTHB1 N-terminus
    pfam14728
    Location:440 → 808
    PHTB1_C; PTHB1 C-terminus

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_000075.7 Reference GRCm39 C57BL/6J

    Range
    22386819..22799579
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006510416.5 → XP_006510479.1  protein PTHB1 isoform X1

    See identical proteins and their annotated locations for XP_006510479.1

    UniProtKB/Swiss-Prot
    P97498, Q3UMR2, Q7TQH9, Q811G0, Q8BKD7, Q8K0T5
    Conserved Domains (2) summary
    pfam14727
    Location:1 → 417
    PHTB1_N; PTHB1 N-terminus
    pfam14728
    Location:443 → 818
    PHTB1_C; PTHB1 C-terminus

  2. XM_006510418.5 → XP_006510481.1  protein PTHB1 isoform X1

    See identical proteins and their annotated locations for XP_006510481.1

    UniProtKB/Swiss-Prot
    P97498, Q3UMR2, Q7TQH9, Q811G0, Q8BKD7, Q8K0T5
    Conserved Domains (2) summary
    pfam14727
    Location:1 → 417
    PHTB1_N; PTHB1 N-terminus
    pfam14728
    Location:443 → 818
    PHTB1_C; PTHB1 C-terminus

  3. XM_006510417.4 → XP_006510480.1  protein PTHB1 isoform X1

    See identical proteins and their annotated locations for XP_006510480.1

    UniProtKB/Swiss-Prot
    P97498, Q3UMR2, Q7TQH9, Q811G0, Q8BKD7, Q8K0T5
    Conserved Domains (2) summary
    pfam14727
    Location:1 → 417
    PHTB1_N; PTHB1 N-terminus
    pfam14728
    Location:443 → 818
    PHTB1_C; PTHB1 C-terminus

  4. XM_006510421.4 → XP_006510484.1  protein PTHB1 isoform X5

    Conserved Domains (1) summary
    pfam14727
    Location:1 → 417
    PHTB1_N; PTHB1 N-terminus

  5. XM_036155054.1 → XP_036010947.1  protein PTHB1 isoform X2

    Conserved Domains (2) summary
    pfam14727
    Location:1 → 417
    PHTB1_N; PTHB1 N-terminus
    pfam14728
    Location:440 → 808
    PHTB1_C; PTHB1 C-terminus

  6. XM_006510420.5 → XP_006510483.1  protein PTHB1 isoform X3

    Conserved Domains (2) summary
    pfam14727
    Location:1 → 326
    PHTB1_N; PTHB1 N-terminus
    pfam14728
    Location:352 → 727
    PHTB1_C; PTHB1 C-terminus

  7. XM_011242551.2 → XP_011240853.1  protein PTHB1 isoform X4

    Conserved Domains (2) summary
    pfam14727
    Location:1 → 258
    PHTB1_N; PTHB1 N-terminus
    pfam14728
    Location:284 → 659
    PHTB1_C; PTHB1 C-terminus

  8. XM_036155055.1 → XP_036010948.1  protein PTHB1 isoform X6

    Conserved Domains (1) summary
    pfam14728
    Location:1 → 334
    PHTB1_C; PTHB1 C-terminus

  9. XM_036155056.1 → XP_036010949.1  protein PTHB1 isoform X7

    Conserved Domains (1) summary
    pfam14728
    Location:1 → 329
    PHTB1_C; PTHB1 C-terminus
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q811G0.2 GenPept UniProtKB/Swiss-Prot:Q811G0

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