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

Gene ID: 68099, updated on 27-Nov-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; ciliary transition zone; and mitochondrion. 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, Nov 2024]
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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See Cibar1 in Genome Data Viewer
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. The Cby3/ciBAR1 complex positions the annulus along the sperm flagellum during spermiogenesis. Hoque M, et al. J Cell Biol, 2024 Mar 4. PMID 38197861, Free PMC Article
  3. 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
  4. 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
  5. 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

See all (26) 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)
  • Endonuclease-mediated (2) 
  • Targeted (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
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 cilium assembly ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in inner mitochondrial membrane organization ISO
Inferred from Sequence Orthology
more info
  
involved_in inner mitochondrial membrane organization ISS
Inferred from Sequence or Structural Similarity
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 centriole 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 cytoplasm ISS
Inferred from Sequence or Structural Similarity
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 mitochondrial inner membrane ISS
Inferred from Sequence or Structural Similarity
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
  
located_in nucleus ISS
Inferred from Sequence or Structural Similarity
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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