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    Clxn calaxin [ Mus musculus (house mouse) ]

    Gene ID: 66793, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Clxnprovided by MGI
    Official Full Name
    calaxinprovided by MGI
    Primary source
    MGI:MGI:1914043
    See related
    Ensembl:ENSMUSG00000068617 AllianceGenome:MGI:1914043
    Gene type
    protein coding
    RefSeq status
    PROVISIONAL
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Efcab1; 4930449A16Rik; 5430404L10Rik
    Summary
    Predicted to enable several functions, including beta-tubulin binding activity; calcium-dependent outer dynein arm binding activity; and dynein heavy chain binding activity. Involved in regulation of flagellated sperm motility. Located in cilium. Is expressed in central nervous system and pancreas trunk epithelium. Human ortholog(s) of this gene implicated in primary ciliary dyskinesia. Orthologous to human CLXN (calaxin). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in CNS E18 (RPKM 1.7), limb E14.5 (RPKM 1.6) and 13 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Clxn in Genome Data Viewer
    Location:
    16 A1; 16 10.09 cM
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 16 NC_000082.7 (14724315..14786925)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 16 NC_000082.6 (14906224..14969061)

    Chromosome 16 - NC_000082.7Genomic Context describing neighboring genes Neighboring gene snail family zinc finger 2 Neighboring gene STARR-seq mESC enhancer starr_40195 Neighboring gene predicted gene, 25547 Neighboring gene predicted gene, 33696 Neighboring gene STARR-seq mESC enhancer starr_40198 Neighboring gene predicted gene, 46561 Neighboring gene VISTA enhancer mm466 Neighboring gene predicted gene, 41423 Neighboring gene VISTA enhancer mm383 Neighboring gene predicted gene 5404

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Pathogenic variants in CLXN encoding the outer dynein arm docking-associated calcium-binding protein calaxin cause primary ciliary dyskinesia. Hjeij R, et al. Genet Med, 2023 May. PMID 36727596
    2. Calaxin is required for cilia-driven determination of vertebrate laterality. Sasaki K, et al. Commun Biol, 2019. PMID 31240264, Free PMC Article
    3. Identification of FOXJ1 effectors during ciliogenesis in the foetal respiratory epithelium and embryonic left-right organiser of the mouse. Stauber M, et al. Dev Biol, 2017 Mar 15. PMID 27914912
    4. Identification of transcripts with enriched expression in the developing and adult pancreas. Hoffman BG, et al. Genome Biol, 2008. PMID 18554416, Free PMC Article
    5. Large-scale cDNA analysis reveals phased gene expression patterns during preimplantation mouse development. Ko MS, et al. Development, 2000 Apr. PMID 10725249

    See all (17) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Pathogenic variants in CLXN encoding the outer dynein arm docking-associated calcium-binding protein calaxin cause primary ciliary dyskinesia.
      Title: Pathogenic variants in CLXN encoding the outer dynein arm docking-associated calcium-binding protein calaxin cause primary ciliary dyskinesia.
    2. Mice with a null mutation in Efcab1 display typical phenotypes of primary ciliary dyskinesia, including hydrocephalus, situs inversus, and abnormal motility of trachea cilia and sperm flagella. Strikingly, both males and females are viable and fertile, indicating that calaxin is not essential for fertilization in mice. The 9 + 2 axonemal structures of epithelial multicilia and sperm flagella are normal.
      Title: Calaxin is required for cilia-driven determination of vertebrate laterality.
    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 beta-tubulin binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables calcium ion binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables calcium ion binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables calcium-dependent outer dynein arm binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables cytoskeletal motor regulator activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables dynein heavy chain binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    acts_upstream_of_or_within cell chemotaxis ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in cilium movement ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    acts_upstream_of_or_within cilium-dependent cell motility ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in outer dynein arm assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of cilium movement IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of flagellated sperm motility IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within regulation of flagellated sperm motility ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in regulation of signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in 9+2 motile cilium ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in axoneme ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cilium IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    calaxin
    Names
    EF-hand calcium binding domain 1
    EF-hand calcium-binding domain-containing 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_025769.3 → NP_080045.1  calaxin

      See identical proteins and their annotated locations for NP_080045.1

      Status: PROVISIONAL

      Source sequence(s)
      AC154606
      Consensus CDS
      CCDS27975.1
      UniProtKB/Swiss-Prot
      Q8BSW3, Q8C982, Q8CAI0, Q9D3N2, Q9D527, Q9D5E7
      Related
      ENSMUSP00000087744.2, ENSMUST00000090277.3
      Conserved Domains (2) summary
      cd00051
      Location:72 → 131
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
      pfam13499
      Location:103 → 176
      EF-hand_7; EF-hand domain pair

    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_000082.7 Reference GRCm39 C57BL/6J

      Range
      14724315..14786925
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006522474.5 → XP_006522537.1  calaxin isoform X1

      Conserved Domains (1) summary
      COG5126
      Location:49 → 175
      FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]

    2. XM_036160092.1 → XP_036015985.1  calaxin isoform X2

      Conserved Domains (1) summary
      COG5126
      Location:49 → 175
      FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]

    RNA

    1. XR_875839.4 RNA Sequence

    2. XR_001781852.3 RNA Sequence

    3. XR_004939211.1 RNA Sequence

    4. XR_004939209.1 RNA Sequence

    5. XR_004939210.1 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9D3N2.1 GenPept UniProtKB/Swiss-Prot:Q9D3N2

    Gene LinkOut

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

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