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    Cibar1 CBY1 interacting BAR domain containing 1 [ Mus musculus (house mouse) ]

    Gene ID: 68099, updated on 21-Apr-2024

    Summary

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    Official Symbol
    Cibar1provided by MGI
    Official Full Name
    CBY1 interacting BAR domain containing 1provided by MGI
    Primary source
    MGI:MGI:1915349
    See related
    Ensembl:ENSMUSG00000028218 AllianceGenome:MGI:1915349
    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
    Fam92a; Fam92a1; 6720467C03Rik
    Summary
    Predicted to enable phospholipid binding activity. Involved in cilium assembly; limb morphogenesis; and positive regulation of smoothened signaling pathway. Located in ciliary basal body and ciliary transition zone. Is expressed in apical ectodermal ridge; limb bud; and limb mesenchyme. Used to study polydactyly. Orthologous to human CIBAR1 (CBY1 interacting BAR domain containing 1). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in CNS E18 (RPKM 13.6), CNS E11.5 (RPKM 11.7) and 21 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    4 A1; 4 5.58 cM
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 4 NC_000070.7 (12153142..12172047, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 4 NC_000070.6 (12153142..12172023, complement)

    Chromosome 4 - NC_000070.7Genomic Context describing neighboring genes Neighboring gene poly A binding protein, cytoplasmic 4 pseudogene Neighboring gene ubiquitin-conjugating enzyme E2 variant 2 pseudogene Neighboring gene RNA binding motif protein 12 B1 Neighboring gene predicted gene, 46845 Neighboring gene predicted gene, 46846 Neighboring gene heterogeneous nuclear ribonucleoprotein A3 pseudogene

    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. [Cloning, expression, distribution and subcellular localization of AK078438 gene]. Huang L, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi, 2007 Jun. PMID 17557235
    2. FAM92A1 is a BAR domain protein required for mitochondrial ultrastructure and function. Wang L, et al. J Cell Biol, 2019 Jan 7. PMID 30404948, Free PMC Article
    3. FAM92A Underlies Nonsyndromic Postaxial Polydactyly in Humans and an Abnormal Limb and Digit Skeletal Phenotype in Mice. Schrauwen I, et al. J Bone Miner Res, 2019 Feb. PMID 30395363, Free PMC Article
    4. BAR Domain-Containing FAM92 Proteins Interact with Chibby1 To Facilitate Ciliogenesis. Li FQ, et al. Mol Cell Biol, 2016 Nov 1. PMID 27528616, Free PMC Article
    5. Disruption of exon-bridging interactions between the minor and major spliceosomes results in alternative splicing around minor introns. Olthof AM, et al. Nucleic Acids Res, 2021 Apr 6. PMID 33660780, Free PMC Article

    See all (22) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The Cby3/ciBAR1 complex positions the annulus along the sperm flagellum during spermiogenesis.
      Title: The Cby3/ciBAR1 complex positions the annulus along the sperm flagellum during spermiogenesis.
    2. a new nonsyndromic autosomal recessive nonsyndromic postaxial polydactyly type A ciliopathy due to a loss-of-function variant in FAM92A.
      Title: FAM92A Underlies Nonsyndromic Postaxial Polydactyly in Humans and an Abnormal Limb and Digit Skeletal Phenotype in Mice.
    3. Protein expression, expressing profile and subcellular localization of AK078438 gene set the basis for further exploration of its functions.[AK078438]
      Title: [Cloning, expression, distribution and subcellular localization of AK078438 gene].
    Submit: New GeneRIF Correction

    Variation

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    Alleles

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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables phospholipid binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    acts_upstream_of_or_within cell projection organization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cilium assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cilium assembly ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in inner mitochondrial membrane organization ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in limb morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in limb morphogenesis ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in membrane organization ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in membrane tubulation ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in positive regulation of smoothened signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cell projection IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in centriole ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in ciliary basal body IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in ciliary basal body IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in ciliary base ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in ciliary transition zone IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in ciliary transition zone IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cilium IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in mitochondrial crista ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in mitochondrial inner membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrion ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleus ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    CBY1-interacting BAR domain-containing protein 1
    Names
    family with sequence similarity 92, member A
    protein FAM92A
    protein FAM92A1

    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_001310743.1 → NP_001297672.1  CBY1-interacting BAR domain-containing protein 1 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site and lacks an alternate in-frame exon in the central coding region, compared to variant 1. The encoded isoform (2) is four amino acids shorter than isoform 1.
      Source sequence(s)
      AK013129, AK019574, AL929413, BE953978, CJ064072
      Consensus CDS
      CCDS80077.1
      UniProtKB/TrEMBL
      J3KMP6, Z4YJZ2
      Related
      ENSMUSP00000084284.5, ENSMUST00000087052.11
      Conserved Domains (1) summary
      cd07598
      Location:77 → 283
      BAR_FAM92; The Bin/Amphiphysin/Rvs (BAR) domain of Family with sequence similarity 92 (FAM92)

    2. NM_026558.5 → NP_080834.3  CBY1-interacting BAR domain-containing protein 1 isoform 1

      See identical proteins and their annotated locations for NP_080834.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AK078438, AL929413, BC055848, BE953978, CJ064072
      Consensus CDS
      CCDS51123.1
      UniProtKB/TrEMBL
      A0A8Q0KEJ4, J3KMP6
      Related
      ENSMUSP00000103920.3, ENSMUST00000108285.9
      Conserved Domains (1) summary
      cd07598
      Location:77 → 287
      BAR_FAM92; The Bin/Amphiphysin/Rvs (BAR) domain of Family with sequence similarity 92 (FAM92)

    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_000070.7 Reference GRCm39 C57BL/6J

      Range
      12153142..12172047 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006538210.5 → XP_006538273.1  CBY1-interacting BAR domain-containing protein 1 isoform X2

      UniProtKB/TrEMBL
      J3KMP6
      Related
      ENSMUSP00000135961.2, ENSMUST00000177837.8
      Conserved Domains (1) summary
      cd07598
      Location:77 → 290
      BAR_FAM92; The Bin/Amphiphysin/Rvs (BAR) domain of Family with sequence similarity 92 (FAM92)

    2. XM_006538209.5 → XP_006538272.1  CBY1-interacting BAR domain-containing protein 1 isoform X1

      UniProtKB/TrEMBL
      J3KMP6
      Conserved Domains (1) summary
      cd07598
      Location:77 → 294
      BAR_FAM92; The Bin/Amphiphysin/Rvs (BAR) domain of Family with sequence similarity 92 (FAM92)

    3. XM_006538212.5 → XP_006538275.1  CBY1-interacting BAR domain-containing protein 1 isoform X3

      Conserved Domains (1) summary
      cd07598
      Location:77 → 257
      BAR_FAM92; The Bin/Amphiphysin/Rvs (BAR) domain of Family with sequence similarity 92 (FAM92)

    RNA

    1. XR_003954999.2 RNA Sequence

    2. XR_003955000.2 RNA Sequence

    3. XR_001784190.3 RNA Sequence

    4. XR_004941950.1 RNA Sequence

    5. XR_881072.4 RNA Sequence

    6. XR_004941949.1 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8BP22.2 GenPept UniProtKB/Swiss-Prot:Q8BP22

    Gene LinkOut

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

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