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    Cfap43 cilia and flagella associated protein 43 [ Mus musculus (house mouse) ]

    Gene ID: 100048534, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Cfap43provided by MGI
    Official Full Name
    cilia and flagella associated protein 43provided by MGI
    Primary source
    MGI:MGI:1289258
    See related
    Ensembl:ENSMUSG00000044948 AllianceGenome:MGI:1289258
    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
    Wdr96; D19Ertd652e; 4632415N18Rik; 4930428C11Rik; 4930463G05Rik
    Summary
    Involved in regulation of cilium beat frequency and sperm axoneme assembly. Acts upstream of or within several processes, including epithelial cilium movement involved in extracellular fluid movement; motile cilium assembly; and spermatogenesis. Located in 9+2 motile cilium and axoneme. Is expressed in lateral ventricle choroid plexus and metencephalon part of 4th ventricle choroid plexus. Used to study normal pressure hydrocephalus and spermatogenic failure 19. Human ortholog(s) of this gene implicated in normal pressure hydrocephalus and spermatogenic failure 19. Orthologous to human CFAP43 (cilia and flagella associated protein 43). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in testis adult (RPKM 16.9), frontal lobe adult (RPKM 1.9) and 4 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Cfap43 in Genome Data Viewer
    Location:
    19 40.41 cM; 19 D1
    Exon count:
    40
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 19 NC_000085.7 (47723706..47825893, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 19 NC_000085.6 (47736857..47837454, complement)

    Chromosome 19 - NC_000085.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 26085 Neighboring gene predicted gene, 24805 Neighboring gene CapStarr-seq enhancer MGSCv37_chr19:47805577-47805764 Neighboring gene STARR-positive B cell enhancer ABC_E8756 Neighboring gene STARR-seq mESC enhancer starr_46368 Neighboring gene SWI5 dependent recombination repair 1 Neighboring gene microRNA 8090 Neighboring gene STARR-seq mESC enhancer starr_46371 Neighboring gene STARR-positive B cell enhancer ABC_E2529 Neighboring gene STARR-seq mESC enhancer starr_46373 Neighboring gene STARR-seq mESC enhancer starr_46374 Neighboring gene predicted gene, 30021 Neighboring gene glutathione S-transferase omega 1

    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. Nonsense mutation in CFAP43 causes normal-pressure hydrocephalus with ciliary abnormalities. Morimoto Y, et al. Neurology, 2019 May 14. PMID 31004071, Free PMC Article
    2. Creation of knock out and knock in mice by CRISPR/Cas9 to validate candidate genes for human male infertility, interest, difficulties and feasibility. Kherraf ZE, et al. Mol Cell Endocrinol, 2018 Jun 15. PMID 29522859
    3. Oligogenic heterozygous inheritance of sperm abnormalities in mouse. Martinez G, et al. Elife, 2022 Apr 22. PMID 35451961, Free PMC Article
    4. Mutations in CFAP43 and CFAP44 cause male infertility and flagellum defects in Trypanosoma and human. Coutton C, et al. Nat Commun, 2018 Feb 15. PMID 29449551, Free PMC Article
    5. Biallelic Mutations in CFAP43 and CFAP44 Cause Male Infertility with Multiple Morphological Abnormalities of the Sperm Flagella. Tang S, et al. Am J Hum Genet, 2017 Jun 1. PMID 28552195, Free PMC Article

    See all (19) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. CFAP43 modulates ciliary beating in mouse and Xenopus.
      Title: CFAP43 modulates ciliary beating in mouse and Xenopus.
    2. Cfap43-KO mice exhibited a hydrocephalus phenotype with morphologic abnormality of motile cilia.
      Title: Nonsense mutation in CFAP43 causes normal-pressure hydrocephalus with ciliary abnormalities.
    3. biallelic mutations in either CFAP43 or CFAP44 can cause sperm flagellar abnormalities and impair sperm motility.
      Title: Biallelic Mutations in CFAP43 and CFAP44 Cause Male Infertility with Multiple Morphological Abnormalities of the Sperm Flagella.
    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

    Clone Names

    • FLJ22944

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
    		  
    Process Evidence Code Pubs
    acts_upstream_of_or_within brain development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within cell morphogenesis IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    acts_upstream_of_or_within cell morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within cerebrospinal fluid circulation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cilium assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within cilium organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within epithelial cilium movement involved in extracellular fluid movement ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within establishment of localization in cell IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within flagellated sperm motility IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in flagellated sperm motility IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within motile cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within mucociliary clearance IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within nucleus organization IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in regulation of cilium beat frequency IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in sperm axoneme assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within sperm axoneme assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in sperm axoneme assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in sperm axoneme assembly ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within sperm motility IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    acts_upstream_of_or_within spermatogenesis IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    acts_upstream_of_or_within spermatogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in 9+2 motile cilium IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in axoneme IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in axoneme IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in axoneme ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    cilia- and flagella-associated protein 43
    Names
    WD repeat domain 96

    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_027559.2 → NP_081835.2  cilia- and flagella-associated protein 43

      Status: PROVISIONAL

      Source sequence(s)
      AC126679, AC131719, AK015497
      Consensus CDS
      CCDS57146.1
      UniProtKB/Swiss-Prot
      E9Q7R9
      Related
      ENSMUSP00000125007.2, ENSMUST00000160247.3
      Conserved Domains (4) summary
      COG2319
      Location:332 → 537
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:321 → 358
      7WD40; WD40 repeat [structural motif]
      cl25732
      Location:927 → 1300
      SMC_N; RecF/RecN/SMC N terminal domain
      cl26511
      Location:1108 → 1539
      Neuromodulin_N; Gap junction protein N-terminal region

    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_000085.7 Reference GRCm39 C57BL/6J

      Range
      47723706..47825893 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011247103.4 → XP_011245405.1  cilia- and flagella-associated protein 43 isoform X1

      Conserved Domains (3) summary
      PTZ00121
      Location:1064 → 1495
      PTZ00121; MAEBL; Provisional
      COG1196
      Location:883 → 1256
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      COG2319
      Location:332 → 485
      WD40; WD40 repeat [General function prediction only]

    2. XM_006526532.5 → XP_006526595.1  cilia- and flagella-associated protein 43 isoform X2

      Conserved Domains (3) summary
      COG2319
      Location:332 → 537
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:321 → 358
      7WD40; WD40 repeat [structural motif]
      pfam02463
      Location:925 → 1605
      SMC_N; RecF/RecN/SMC N terminal domain

    3. XM_017318031.3 → XP_017173520.1  cilia- and flagella-associated protein 43 isoform X5

      Conserved Domains (2) summary
      PTZ00121
      Location:702 → 1050
      PTZ00121; MAEBL; Provisional
      pfam02463
      Location:519 → 867
      SMC_N; RecF/RecN/SMC N terminal domain

    4. XM_017318032.3 → XP_017173521.1  cilia- and flagella-associated protein 43 isoform X6

      Conserved Domains (1) summary
      PTZ00121
      Location:532 → 738
      PTZ00121; MAEBL; Provisional

    5. XM_036161360.1 → XP_036017253.1  cilia- and flagella-associated protein 43 isoform X3

      Conserved Domains (4) summary
      PTZ00121
      Location:1108 → 1539
      PTZ00121; MAEBL; Provisional
      COG1196
      Location:927 → 1300
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      COG2319
      Location:332 → 537
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:321 → 358
      7WD40; WD40 repeat [structural motif]

    6. XM_006526534.5 → XP_006526597.1  cilia- and flagella-associated protein 43 isoform X4

      Conserved Domains (3) summary
      COG1196
      Location:927 → 1300
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      COG2319
      Location:332 → 537
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:321 → 358
      7WD40; WD40 repeat [structural motif]

    RNA

    1. XR_003952732.2 RNA Sequence

    2. XR_001782551.3 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    E9Q7R9.1 GenPept UniProtKB/Swiss-Prot:E9Q7R9

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