U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Gene ID: 100048534, updated on 11-Apr-2024

Summary

Go to the top of the page Help
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. Acts upstream of or within brain development; epithelial cilium movement involved in extracellular fluid movement; and sperm axoneme assembly. 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, Apr 2022]
Expression
Biased expression in testis adult (RPKM 16.9), frontal lobe adult (RPKM 1.9) and 4 other tissues See more
Orthologs
human all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
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

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • 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

Go to the top of the pageHelp

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. 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
  4. 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
  5. CFAP43 modulates ciliary beating in mouse and Xenopus. Rachev E, et al. Dev Biol, 2020 Mar 15. PMID 31884020

See all (18) 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

Go to the top of the page Help

Alleles

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

General gene information

Go to the top of the page Help

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 differentiation IEA
Inferred from Electronic Annotation
more info
  
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 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 
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 spermatogenesis IEA
Inferred from Electronic Annotation
more info
  
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 cell projection IEA
Inferred from Electronic Annotation
more info
  
located_in cilium IEA
Inferred from Electronic Annotation
more info
  
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
  
located_in cytoskeleton IEA
Inferred from Electronic Annotation
more info
  
located_in motile cilium IEA
Inferred from Electronic Annotation
more info
  

General protein information

Go to the top of the page Help
Preferred Names
cilia- and flagella-associated protein 43
Names
WD repeat domain 96

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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

Gene LinkOut

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

Molecular Biology Databases
Research Materials
Tools
Miscellaneous