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

Gene ID: 27078, updated on 26-Sep-2022

Summary

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. Acts upstream of or within several processes, including embryonic digit morphogenesis; neuroepithelial cell differentiation; and smoothened signaling pathway. Located in ciliary transition zone and membrane. Part of MKS complex. Is expressed in embryo. 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, Apr 2022]
Expression
Broad expression in testis adult (RPKM 74.8), ovary adult (RPKM 19.1) and 19 other tissues See more
Orthologs
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Genomic context

See B9d1 in Genome Data Viewer
Location:
11; 11 B2
Exon count:
7
Annotation release Status Assembly Chr Location
109 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 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 GRB2-related adaptor protein Neighboring gene solute carrier family 5 (sodium/glucose cotransporter), member 10

Genomic regions, transcripts, and products

Expression

  • 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

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Targeted (3)  1 citation
  • Endonuclease-mediated (2) 

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 
Component Evidence Code Pubs
part_of MKS complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
part_of MKS complex IDA
Inferred from Direct Assay
more info
PubMed 
located_in cell projection IEA
Inferred from Electronic Annotation
more info
 
located_in centrosome ISO
Inferred from Sequence Orthology
more info
 
located_in ciliary basal body ISO
Inferred from Sequence Orthology
more info
 
located_in ciliary transition zone IDA
Inferred from Direct Assay
more info
PubMed 
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 IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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

    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:1784
    B9-C2; Ciliary basal body-associated, B9 protein
  2. NM_001330781.1NP_001317710.1  B9 domain-containing protein 1 isoform 3 precursor

    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:1747
    B9-C2; Ciliary basal body-associated, B9 protein
  3. NM_013717.3NP_038745.1  B9 domain-containing protein 1 isoform 1 precursor

    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
    UniProtKB/TrEMBL
    A0A8C6MZQ8
    Related
    ENSMUSP00000099717.4, ENSMUST00000102657.10
    Conserved Domains (1) summary
    pfam07162
    Location:17173
    B9-C2; Ciliary basal body-associated, B9 protein

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

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_006533447.3XP_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:2079
    B9-C2; Ciliary basal body-associated, B9 protein
  2. XM_006533448.3XP_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:2079
    B9-C2; Ciliary basal body-associated, B9 protein