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    Bbof1 basal body orientation factor 1 [ Mus musculus (house mouse) ]

    Gene ID: 72873, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Bbof1provided by MGI
    Official Full Name
    basal body orientation factor 1provided by MGI
    Primary source
    MGI:MGI:1920123
    See related
    Ensembl:ENSMUSG00000057265 AllianceGenome:MGI:1920123
    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
    Ccdc176; 2900006K08Rik
    Summary
    Involved in sperm axoneme assembly. Acts upstream of or within several processes, including cilium movement involved in cell motility; negative regulation of microtubule depolymerization; and protein stabilization. Located in axoneme and sperm flagellum. Orthologous to human BBOF1 (basal body orientation factor 1). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in testis adult (RPKM 5.8), kidney adult (RPKM 4.1) and 21 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Bbof1 in Genome Data Viewer
    Location:
    12 D1; 12 39.2 cM
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 12 NC_000078.7 (84455243..84488279)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 12 NC_000078.6 (84408461..84441428)

    Chromosome 12 - NC_000078.7Genomic Context describing neighboring genes Neighboring gene zinc finger protein 410 Neighboring gene LSM6 homolog, U6 small nuclear RNA associated pseudogene Neighboring gene STARR-positive B cell enhancer ABC_E1445 Neighboring gene family with sequence similarity 161, member B Neighboring gene CapStarr-seq enhancer MGSCv37_chr12:85729760-85729947 Neighboring gene coenzyme Q6 monooxygenase Neighboring gene ectonucleoside triphosphate diphosphohydrolase 5 Neighboring gene STARR-positive B cell enhancer ABC_E8493 Neighboring gene ring finger protein 113A2 Neighboring gene aldehyde dehydrogenase family 6, subfamily A1 Neighboring gene STARR-positive B cell enhancer ABC_E80 Neighboring gene lin-52 DREAM MuvB core complex component Neighboring gene STARR-seq mESC enhancer starr_32738 Neighboring gene STARR-seq mESC enhancer starr_32740 Neighboring gene STARR-seq mESC enhancer starr_32741 Neighboring gene visual system homeobox 2

    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. CCDC176 stabilizes microtubule doublets 1 and 9 to ensure proper sperm movement. Liu C, et al. Curr Biol, 2023 Aug 21. PMID 37494937
    2. BBOF1 is required for sperm motility and male fertility by stabilizing the flagellar axoneme in mice. Cao H, et al. Cell Mol Life Sci, 2023 May 17. PMID 37198331, Free PMC Article
    3. A conditional knockout resource for the genome-wide study of mouse gene function. Skarnes WC, et al. Nature, 2011 Jun 15. PMID 21677750, Free PMC Article
    4. A high-resolution anatomical atlas of the transcriptome in the mouse embryo. Diez-Roux G, et al. PLoS Biol, 2011 Jan 18. PMID 21267068, Free PMC Article
    5. Antisense transcription in the mammalian transcriptome. Katayama S, et al. Science, 2005 Sep 2. PMID 16141073

    See all (12) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. CCDC176 stabilizes microtubule doublets 1 and 9 to ensure proper sperm movement.
      Title: CCDC176 stabilizes microtubule doublets 1 and 9 to ensure proper sperm movement.
    2. BBOF1 is required for sperm motility and male fertility by stabilizing the flagellar axoneme in mice.
      Title: BBOF1 is required for sperm motility and male fertility by stabilizing the flagellar axoneme in mice.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    acts_upstream_of_or_within cilium movement involved in cell motility IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within flagellated sperm motility IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in flagellated sperm motility IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in motile cilium assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    acts_upstream_of_or_within negative regulation of microtubule depolymerization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within protein stabilization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within single fertilization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in sperm axoneme assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in axoneme IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in cellular_component ND
    No biological Data available
    more info
    		  
    located_in ciliary basal body ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in sperm flagellum IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in sperm flagellum IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    basal body-orientation factor 1
    Names
    coiled-coil domain containing 176
    coiled-coil domain-containing protein 176

    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_028377.3 → NP_082653.2  basal body-orientation factor 1

      See identical proteins and their annotated locations for NP_082653.2

      Status: VALIDATED

      Source sequence(s)
      AK013494, AK133381, BC151103
      Consensus CDS
      CCDS36492.1
      UniProtKB/Swiss-Prot
      B9EKT3, Q3V079, Q9CUZ3
      Related
      ENSMUSP00000080512.7, ENSMUST00000081828.13
      Conserved Domains (1) summary
      pfam14988
      Location:83 → 276
      DUF4515; Domain of unknown function (DUF4515)

    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_000078.7 Reference GRCm39 C57BL/6J

      Range
      84455243..84488279
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_030246946.2 → XP_030102806.1  basal body-orientation factor 1 isoform X1

      Conserved Domains (1) summary
      pfam14988
      Location:83 → 219
      DUF4515; Domain of unknown function (DUF4515)

    2. XM_030246947.2 → XP_030102807.1  basal body-orientation factor 1 isoform X2

      Conserved Domains (1) summary
      pfam14988
      Location:83 → 219
      DUF4515; Domain of unknown function (DUF4515)

    RNA

    1. XR_001780493.3 RNA Sequence

    2. XR_003950087.2 RNA Sequence

    3. XR_381551.5 RNA Sequence

    4. XR_381550.4 RNA Sequence

    5. XR_001780492.3 RNA Sequence

    6. XR_381548.4 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q3V079.2 GenPept UniProtKB/Swiss-Prot:Q3V079

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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