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    Cep131 centrosomal protein 131 [ Mus musculus (house mouse) ]

    Gene ID: 12009, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Cep131provided by MGI
    Official Full Name
    centrosomal protein 131provided by MGI
    Primary source
    MGI:MGI:107440
    See related
    Ensembl:ENSMUSG00000039781 AllianceGenome:MGI:107440
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    AZ1; Azi; Azi1
    Summary
    The protein encoding this gene is a centriolar satellite protein that localizes around the basal body via transport along microtubules. Knockdown in mouse fibroblasts results in a reduction in ciliogenesis. Null mutant mice display no discernible ciliary phenotypes and embryonic patterning and adult homeostasis are largely unaffected. Male mice are infertile, however, due to defects in microtubule trafficking in the sperm manchette and flagella. In addition, the protein binds to a complex of proteins associated with Bardet-Biedl syndrome called the BBSome, and depletion of this protein results in an accumulation of the BBSome in cilia. [provided by RefSeq, Oct 2014]
    Expression
    Broad expression in adrenal adult (RPKM 12.1), CNS E11.5 (RPKM 12.1) and 26 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Cep131 in Genome Data Viewer
    Location:
    11 E2; 11 83.96 cM
    Exon count:
    26
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 11 NC_000077.7 (119955247..119977684, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 11 NC_000077.6 (120064429..120086865, complement)

    Chromosome 11 - NC_000077.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 57802 Neighboring gene brain-specific angiogenesis inhibitor 1-associated protein 2 Neighboring gene apoptosis-associated tyrosine kinase Neighboring gene microRNA 3065 Neighboring gene microRNA 338 Neighboring gene STARR-positive B cell enhancer ABC_E4021 Neighboring gene STARR-positive B cell enhancer ABC_E206 Neighboring gene TEPSIN, adaptor related protein complex 4 accessory protein Neighboring gene NADH:ubiquinone oxidoreductase complex assembly factor 8

    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. The AmAZI1ng roles of centriolar satellites during development. Mahjoub MR, et al. PLoS Genet, 2013. PMID 24385938, Free PMC Article
    2. Genomic organization of the mouse AZ1 gene that encodes the protein localized to preacrosomes of spermatids. Aoto H, et al. Genomics, 1997 Feb 15. PMID 9070930
    3. Crystal structure of a bony fish beta2-microglobulin: insights into the evolutionary origin of immunoglobulin superfamily constant molecules. Chen W, et al. J Biol Chem, 2010 Jul 16. PMID 20444690, Free PMC Article
    4. Isolation of a novel cDNA that encodes a protein localized to the pre-acrosome region of spermatids. Aoto H, et al. Eur J Biochem, 1995 Nov 15. PMID 8529672
    5. Acute versus chronic loss of mammalian Azi1/Cep131 results in distinct ciliary phenotypes. Hall EA, et al. PLoS Genet, 2013. PMID 24415959, Free PMC Article

    See all (27) 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)
    • Gene trapped (1) 

    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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    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables protein homodimerization activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables protein homodimerization activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables protein-containing complex binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein-containing complex binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in cilium assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within intraciliary transport IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in intraciliary transport involved in cilium assembly ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in intraciliary transport involved in cilium assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    acts_upstream_of_or_within intramanchette transport IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within manchette assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within non-motile cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of cell population proliferation ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in positive regulation of cell population proliferation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of intracellular protein transport ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in positive regulation of intracellular protein transport ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in protein localization to centrosome IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein localization to centrosome ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in regulation of centrosome duplication IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of centrosome duplication ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in regulation of centrosome duplication ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    acts_upstream_of_or_within sperm axoneme assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within spermatid development IEP
    Inferred from Expression Pattern
    more info
    		 PubMed 
    acts_upstream_of_or_within spermatid development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in spermatogenesis TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in acrosomal vesicle IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in centriolar satellite IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in centriolar satellite IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in centriolar satellite ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in centriolar satellite ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in centriole IEA
    Inferred from Electronic Annotation
    more info
    		  
    colocalizes_with centrosome ISO
    Inferred from Sequence Orthology
    more info
    		  
    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 IEA
    Inferred from Electronic Annotation
    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 manchette IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nuclear membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nuclear membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in sperm head-tail coupling apparatus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    centrosomal protein of 131 kDa
    Names
    5-azacytidine induced gene 1
    5-azacytidine-induced protein 1
    pre-acrosome localization protein 1

    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_001403706.1 → NP_001390635.1  centrosomal protein of 131 kDa isoform 1

      Status: REVIEWED

      Source sequence(s)
      AL807824
      UniProtKB/TrEMBL
      B1AXI9

    2. NM_001403734.1 → NP_001390663.1  centrosomal protein of 131 kDa isoform 2

      Status: REVIEWED

      Source sequence(s)
      AL807824

    3. NM_009734.4 → NP_033864.3  centrosomal protein of 131 kDa isoform 1

      See identical proteins and their annotated locations for NP_033864.3

      Status: REVIEWED

      Source sequence(s)
      AL807824
      Consensus CDS
      CCDS36386.2
      UniProtKB/Swiss-Prot
      B1AXJ0, Q62036
      UniProtKB/TrEMBL
      B1AXI9
      Related
      ENSMUSP00000101834.2, ENSMUST00000106227.8
      Conserved Domains (2) summary
      PHA03252
      Location:877 → 938
      PHA03252; DNA packaging tegument protein UL25; Provisional
      cl19219
      Location:717 → 806
      DUF342; Protein of unknown function (DUF342)

    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
      119955247..119977684 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_003949252.2 RNA Sequence

    2. XR_003949250.2 RNA Sequence

    3. XR_004936703.1 RNA Sequence

    4. XR_003949253.2 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q62036.2 GenPept UniProtKB/Swiss-Prot:Q62036

    Gene LinkOut

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

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