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Cfap45 cilia and flagella associated protein 45 [ Mus musculus (house mouse) ]

Gene ID: 71870, updated on 2-Nov-2024

Summary

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Official Symbol
Cfap45provided by MGI
Official Full Name
cilia and flagella associated protein 45provided by MGI
Primary source
MGI:MGI:1919120
See related
Ensembl:ENSMUSG00000026546 AllianceGenome:MGI:1919120
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
Nesg1; Ccdc19; 1700028D05Rik
Summary
Predicted to enable AMP binding activity. Involved in flagellated sperm motility. Acts upstream of or within cerebrospinal fluid circulation; epithelial cilium movement involved in determination of left/right asymmetry; and regulation of cilium beat frequency involved in ciliary motility. Located in 9+0 motile cilium. Is active in axonemal B tubule inner sheath and sperm flagellum. Is expressed in lateral ventricle choroid plexus; lung; metencephalon part of 4th ventricle choroid plexus; and olfactory epithelium. Human ortholog(s) of this gene implicated in visceral heterotaxy. Orthologous to human CFAP45 (cilia and flagella associated protein 45). [provided by Alliance of Genome Resources, Nov 2024]
Expression
Biased expression in testis adult (RPKM 57.4) and lung adult (RPKM 1.6) See more
Orthologs
human all
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Genomic context

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See Cfap45 in Genome Data Viewer
Location:
1 H3; 1 79.91 cM
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 1 NC_000067.7 (172348697..172373437)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 1 NC_000067.6 (172521130..172545870)

Chromosome 1 - NC_000067.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E4391 Neighboring gene immunoglobulin superfamily, member 9 Neighboring gene transgelin 2 Neighboring gene STARR-positive B cell enhancer ABC_E2587 Neighboring gene STARR-positive B cell enhancer ABC_E9066 Neighboring gene STARR-seq mESC enhancer starr_03067 Neighboring gene STARR-positive B cell enhancer ABC_E7779 Neighboring gene STARR-positive B cell enhancer mm9_chr1:174458799-174459099 Neighboring gene RIKEN cDNA 4933439K11 gene Neighboring gene STARR-seq mESC enhancer starr_03068 Neighboring gene V-set and immunoglobulin domain containing 8 Neighboring gene SLAM family member 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 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 cilia and flagella associated protein CFAP52 orchestrated with CFAP45 is required for sperm motility in mice. Wu B, et al. J Biol Chem, 2023 Jul. PMID 37236356, Free PMC Article
  2. CFAP45 deficiency causes situs abnormalities and asthenospermia by disrupting an axonemal adenine nucleotide homeostasis module. Dougherty GW, et al. Nat Commun, 2020 Nov 2. PMID 33139725, Free PMC Article
  3. Comparative physical and transcript maps of approximately 1 Mb around loop-tail, a gene for severe neural tube defects on distal mouse chromosome 1 and human chromosome 1q22-q23. Doudney K, et al. Genomics, 2001 Mar 1. PMID 11401431
  4. De novo protein identification in mammalian sperm using in situ cryoelectron tomography and AlphaFold2 docking. Chen Z, et al. Cell, 2023 Nov 9. PMID 37865089, Free PMC Article
  5. In-cell structural insight into the stability of sperm microtubule doublet. Tai L, et al. Cell Discov, 2023 Nov 21. PMID 37989994, Free PMC Article

See all (19) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. CFAP45 deficiency causes situs abnormalities and asthenospermia by disrupting an axonemal adenine nucleotide homeostasis module.
    Title: CFAP45 deficiency causes situs abnormalities and asthenospermia by disrupting an axonemal adenine nucleotide homeostasis module.
Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

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 AMP binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
acts_upstream_of_or_within cerebrospinal fluid circulation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within epithelial cilium movement involved in determination of left/right asymmetry IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in establishment of left/right asymmetry IEA
Inferred from Electronic Annotation
more info
  
involved_in flagellated sperm motility IDA
Inferred from Direct Assay
more info
 PubMed 
acts_upstream_of_or_within flagellated sperm motility IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within regulation of cilium beat frequency involved in ciliary motility IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
located_in 9+0 motile cilium IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in axonemal B tubule inner sheath IDA
Inferred from Direct Assay
more info
 PubMed 
located_in axonemal microtubule ISO
Inferred from Sequence Orthology
more info
  
located_in axonemal microtubule ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in extracellular region IEA
Inferred from Electronic Annotation
more info
  
located_in nucleoplasm IEA
Inferred from Electronic Annotation
more info
  
located_in nucleoplasm ISO
Inferred from Sequence Orthology
more info
  
is_active_in sperm flagellum IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
cilia- and flagella-associated protein 45
Names
coiled-coil domain containing 19
coiled-coil domain-containing protein 19
nasopharyngeal epithelium specific 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_027972.1 → NP_082248.1  cilia- and flagella-associated protein 45

    See identical proteins and their annotated locations for NP_082248.1

    Status: VALIDATED

    Source sequence(s)
    AK006449, BY229665
    Consensus CDS
    CCDS48447.1
    UniProtKB/Swiss-Prot
    Q9D9U9
    Related
    ENSMUSP00000083057.6, ENSMUST00000085894.12
    Conserved Domains (2) summary
    pfam13868
    Location:187 → 532
    TPH; Trichohyalin-plectin-homology domain
    cl19818
    Location:330 → 385
    DUF106; Integral membrane protein DUF106

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_000067.7 Reference GRCm39 C57BL/6J

    Range
    172348697..172373437
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_036153691.1 → XP_036009584.1  cilia- and flagella-associated protein 45 isoform X1

    Conserved Domains (1) summary
    pfam13868
    Location:155 → 495
    TPH; Trichohyalin-plectin-homology domain
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9D9U9.1 GenPept UniProtKB/Swiss-Prot:Q9D9U9

Gene LinkOut

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