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Clxn calaxin [ Mus musculus (house mouse) ]

Gene ID: 66793, updated on 5-Mar-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. Predicted to act upstream of or within cell chemotaxis; cilium-dependent cell motility; and regulation of flagellated sperm motility. Predicted to be located in 9+2 motile cilium and axoneme. Is expressed in central nervous system and pancreas trunk epithelium. Orthologous to human EFCAB1 (EF-hand calcium binding domain 1). [provided by Alliance of Genome Resources, Apr 2022]
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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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

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. Calaxin is required for cilia-driven determination of vertebrate laterality. Sasaki K, et al. Commun Biol, 2019. PMID 31240264, Free PMC Article
  2. 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
  3. Identification of transcripts with enriched expression in the developing and adult pancreas. Hoffman BG, et al. Genome Biol, 2008. PMID 18554416, Free PMC Article
  4. Large-scale cDNA analysis reveals phased gene expression patterns during preimplantation mouse development. Ko MS, et al. Development, 2000 Apr. PMID 10725249
  5. 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

See all (16) 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
  
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
acts_upstream_of_or_within cell chemotaxis ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within cilium-dependent cell motility ISO
Inferred from Sequence Orthology
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
  
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 cell projection IEA
Inferred from Electronic Annotation
more info
  
located_in cilium IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
  
located_in cytoskeleton IEA
Inferred from Electronic Annotation
more info
  

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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