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

Gene ID: 27078, updated on 2-Nov-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, Nov 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

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. 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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