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    B9d1 B9 protein domain 1 [ Mus musculus (house mouse) ]

    Gene ID: 27078, updated on 9-Dec-2024

    Summary

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    Official Symbol
    B9d1provided by MGI
    Official Full Name
    B9 protein domain 1provided by MGI
    Primary source
    MGI:MGI:1351471
    See related
    Ensembl:ENSMUSG00000001039 AllianceGenome:MGI:1351471
    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
    B9; Eppb9
    Summary
    Enables hedgehog receptor activity. Involved in cilium assembly and smoothened signaling pathway. Acts upstream of or within several processes, including embryonic digit morphogenesis; in utero embryonic development; and neuroepithelial cell differentiation. Located in ciliary transition zone and membrane. Part of MKS complex. Is expressed in embryo and secondary heart field. Used to study Meckel syndrome. Human ortholog(s) of this gene implicated in Joubert syndrome 27 and Meckel syndrome. Orthologous to human B9D1 (B9 domain containing 1). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in testis adult (RPKM 74.8), ovary adult (RPKM 19.1) and 19 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See B9d1 in Genome Data Viewer
    Location:
    11 B2; 11 37.96 cM
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 11 NC_000077.7 (61395970..61403757)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 11 NC_000077.6 (61505144..61512931)

    Chromosome 11 - NC_000077.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E6995 Neighboring gene microfibrillar-associated protein 4 Neighboring gene mitogen-activated protein kinase 7 Neighboring gene B9 protein domain 1, opposite strand Neighboring gene epsin 2 Neighboring gene STARR-seq mESC enhancer starr_29682 Neighboring gene STARR-positive B cell enhancer ABC_E3957 Neighboring gene STARR-positive B cell enhancer ABC_E3958 Neighboring gene CapStarr-seq enhancer MGSCv37_chr11:61483303-61483412 Neighboring gene GRB2-related adaptor protein Neighboring gene solute carrier family 5 (sodium/glucose cotransporter), member 10

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Bioinformatic analysis of ciliary transition zone proteins reveals insights into the evolution of ciliopathy networks. Barker AR, et al. BMC Genomics, 2014 Jun 26. PMID 24969356, Free PMC Article
    2. Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome. Romani M, et al. Orphanet J Rare Dis, 2014 May 5. PMID 24886560, Free PMC Article
    3. TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone. Roberson EC, et al. J Cell Biol, 2015 Apr 13. PMID 25869670, Free PMC Article
    4. Disruption of a ciliary B9 protein complex causes Meckel syndrome. Dowdle WE, et al. Am J Hum Genet, 2011 Jul 15. PMID 21763481, Free PMC Article
    5. Cilia gene mutations cause atrioventricular septal defects by multiple mechanisms. Burnicka-Turek O, et al. Hum Mol Genet, 2016 Jul 15. PMID 27340223, Free PMC Article

    See all (22) 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 (3)  1 citation

    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 hedgehog receptor activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    acts_upstream_of_or_within camera-type eye development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cilium assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cilium assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    acts_upstream_of_or_within embryonic digit morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within in utero embryonic development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within neuroepithelial cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within regulation of protein localization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within smoothened signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in smoothened signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within vasculature development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of MKS complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of MKS complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in centrosome ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in centrosome ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in ciliary basal body ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in ciliary basal body ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in ciliary transition zone IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    B9 domain-containing protein 1
    Names
    endothelial precursor cells protein B9

    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_001330780.1 → NP_001317709.1  B9 domain-containing protein 1 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an exon in the coding region, which results in a frameshift and an early stop codon, compared to variant 1. The encoded isoform (2) is shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AK010355, AW121128, BQ044636
      UniProtKB/Swiss-Prot
      Q9R1S0
      Related
      ENSMUST00000140548.8
      Conserved Domains (1) summary
      pfam07162
      Location:17 → 84
      B9-C2; Ciliary basal body-associated, B9 protein

    2. NM_001330781.1 → NP_001317710.1  B9 domain-containing protein 1 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an exon in the coding region, which results in a frameshift and an early stop codon, compared to variant 1. The encoded isoform (3) is shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AK010355, AW121128, CF551490
      UniProtKB/Swiss-Prot
      Q9R1S0
      Related
      ENSMUST00000155176.8
      Conserved Domains (1) summary
      pfam07162
      Location:17 → 47
      B9-C2; Ciliary basal body-associated, B9 protein

    3. NM_013717.3 → NP_038745.1  B9 domain-containing protein 1 isoform 1

      See identical proteins and their annotated locations for NP_038745.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AK010355, AW121128
      Consensus CDS
      CCDS24815.1
      UniProtKB/Swiss-Prot
      Q9R1S0
      Related
      ENSMUSP00000099717.4, ENSMUST00000102657.10
      Conserved Domains (1) summary
      pfam07162
      Location:17 → 173
      B9-C2; Ciliary basal body-associated, B9 protein

    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_000077.7 Reference GRCm39 C57BL/6J

      Range
      61395970..61403757
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006533447.3 → XP_006533510.1  B9 domain-containing protein 1 isoform X1

      See identical proteins and their annotated locations for XP_006533510.1

      Conserved Domains (1) summary
      pfam07162
      Location:20 → 79
      B9-C2; Ciliary basal body-associated, B9 protein

    2. XM_006533448.3 → XP_006533511.1  B9 domain-containing protein 1 isoform X1

      See identical proteins and their annotated locations for XP_006533511.1

      Conserved Domains (1) summary
      pfam07162
      Location:20 → 79
      B9-C2; Ciliary basal body-associated, B9 protein
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9R1S0.1 GenPept UniProtKB/Swiss-Prot:Q9R1S0

    Gene LinkOut

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