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    B9d1 B9 domain containing 1 [ Rattus norvegicus (Norway rat) ]

    Gene ID: 287383, updated on 27-Nov-2024

    Summary

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    Symbol
    B9d1provided by RGD
    Full Name
    B9 domain containing 1provided by RGD
    Primary source
    RGD:1305522
    See related
    EnsemblRapid:ENSRNOG00000002462 AllianceGenome:RGD:1305522
    Gene type
    protein coding
    RefSeq status
    PROVISIONAL
    Organism
    Rattus norvegicus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
    Also known as
    Eppb9
    Summary
    Predicted to enable hedgehog receptor activity. Predicted to be involved in cilium assembly and smoothened signaling pathway. Predicted to act upstream of or within several processes, including embryonic digit morphogenesis; in utero embryonic development; and neuroepithelial cell differentiation. Predicted to be located in ciliary transition zone; membrane; and microtubule organizing center. Predicted to be part of MKS complex. 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, Nov 2024]
    Expression
    Biased expression in Kidney (RPKM 51.4), Brain (RPKM 51.4) and 9 other tissues See more
    Orthologs
    human mouse all
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    Genomic context

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    See B9d1 in Genome Data Viewer
    Location:
    10q22
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) 10 NC_086028.1 (46685410..46698580)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 10 NC_051345.1 (46186222..46196309)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) 10 NC_005109.4 (47784294..47794399)

    Chromosome 10 - NC_086028.1Genomic Context describing neighboring genes Neighboring gene microfibril associated protein 4 Neighboring gene mitogen-activated protein kinase 7 Neighboring gene epsin 2 Neighboring gene transfer RNA valine (anticodon AAC) 10 Neighboring gene uncharacterized LOC134480802 Neighboring gene GRB2-related adaptor protein

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
    • Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
    • BioProject: PRJNA238328
    • Publication: PMID 24510058
    • Analysis date: Mon Jun 6 17:44:12 2016

    Bibliography

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    Related articles in PubMed

    1. Functional interactions between the ciliopathy-associated Meckel syndrome 1 (MKS1) protein and two novel MKS1-related (MKSR) proteins. Bialas NJ, et al. J Cell Sci, 2009 Mar 1. PMID 19208769, Free PMC Article
    2. 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
    3. A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition. Garcia-Gonzalo FR, et al. Nat Genet, 2011 Jul 3. PMID 21725307, Free PMC Article
    4. A ciliopathy complex at the transition zone protects the cilia as a privileged membrane domain. Chih B, et al. Nat Cell Biol, 2011 Dec 18. PMID 22179047
    5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article

    See all (6) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Pathways from PubChem

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    General gene information

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    Markers

    Homology

    Clone Names

    • MGC189582

    Gene Ontology Provided by RGD

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

    General protein information

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    Preferred Names
    B9 domain-containing protein 1
    Names
    B9 protein domain 1
    endothelial precursor cells protein B9
    endothelial precursor 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_001105786.1 → NP_001099256.1  B9 domain-containing protein 1

      See identical proteins and their annotated locations for NP_001099256.1

      Status: PROVISIONAL

      Source sequence(s)
      CH473948
      UniProtKB/Swiss-Prot
      P0C5J2
      UniProtKB/TrEMBL
      A6HF83
      Conserved Domains (1) summary
      pfam07162
      Location:11 → 174
      B9-C2; Ciliary basal body-associated, B9 protein

    RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

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

    Reference GRCr8

    Genomic

    1. NC_086028.1 Reference GRCr8

      Range
      46685410..46698580
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006246553.5 → XP_006246615.1  B9 domain-containing protein 1 isoform X1

      See identical proteins and their annotated locations for XP_006246615.1

      UniProtKB/TrEMBL
      A0A8L2QWM0
      Related
      ENSRNOP00000065889.2, ENSRNOT00000075073.4
      Conserved Domains (1) summary
      pfam07162
      Location:17 → 159
      B9-C2; Ciliary basal body-associated, B9 protein

    2. XM_006246554.5 → XP_006246616.1  B9 domain-containing protein 1 isoform X2

      See identical proteins and their annotated locations for XP_006246616.1

      Conserved Domains (1) summary
      pfam07162
      Location:17 → 138
      B9-C2; Ciliary basal body-associated, B9 protein

    3. XM_039085413.2 → XP_038941341.1  B9 domain-containing protein 1 isoform X6

      Conserved Domains (1) summary
      pfam07162
      Location:11 → 47
      B9-C2; Ciliary basal body-associated, B9 protein

    4. XM_039085416.2 → XP_038941344.1  B9 domain-containing protein 1 isoform X9

      Conserved Domains (1) summary
      pfam07162
      Location:11 → 47
      B9-C2; Ciliary basal body-associated, B9 protein

    5. XM_017597644.3 → XP_017453133.1  B9 domain-containing protein 1 isoform X3

    6. XM_039085411.2 → XP_038941339.1  B9 domain-containing protein 1 isoform X4

      Conserved Domains (1) summary
      pfam07162
      Location:11 → 47
      B9-C2; Ciliary basal body-associated, B9 protein

    7. XM_039085415.2 → XP_038941343.1  B9 domain-containing protein 1 isoform X7

      Conserved Domains (1) summary
      pfam07162
      Location:11 → 47
      B9-C2; Ciliary basal body-associated, B9 protein

    8. XM_039085412.2 → XP_038941340.1  B9 domain-containing protein 1 isoform X5

      UniProtKB/TrEMBL
      B5DFN6
      Related
      ENSRNOP00000059672.1, ENSRNOT00000067379.3
      Conserved Domains (1) summary
      pfam07162
      Location:11 → 135
      B9-C2; Ciliary basal body-associated, B9 protein

    9. XM_063268624.1 → XP_063124694.1  B9 domain-containing protein 1 isoform X8

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P0C5J2.1 GenPept UniProtKB/Swiss-Prot:P0C5J2

    Gene LinkOut

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