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

Gene ID: 100048534, updated on 8-Dec-2022

Summary

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
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Genomic context

See Cfap43 in Genome Data Viewer
Location:
19 40.41 cM; 19 D1
Exon count:
40
Annotation release Status Assembly Chr Location
109 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 SWI5 dependent recombination repair 1 Neighboring gene microRNA 8090 Neighboring gene predicted gene, 30021 Neighboring gene glutathione S-transferase omega 1

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

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

General gene information

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 cerebrospinal fluid circulation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in cilium assembly IBA
Inferred from Biological aspect of Ancestor
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 
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
PubMed 
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
 
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
PubMed 
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

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

    Status: PROVISIONAL

    Source sequence(s)
    AC126679, AC131719, AK015497
    Consensus CDS
    CCDS57146.1
    UniProtKB/Swiss-Prot
    E9Q7R9
    UniProtKB/TrEMBL
    E9Q7R9
    Related
    ENSMUSP00000125007.2, ENSMUST00000160247.3
    Conserved Domains (4) summary
    COG2319
    Location:332537
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:321358
    7WD40; WD40 repeat [structural motif]
    cl25732
    Location:9271300
    SMC_N; RecF/RecN/SMC N terminal domain
    cl26511
    Location:11081539
    Neuromodulin_N; Gap junction protein N-terminal region

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

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_011247103.4XP_011245405.1  cilia- and flagella-associated protein 43 isoform X1

    Conserved Domains (3) summary
    PTZ00121
    Location:10641495
    PTZ00121; MAEBL; Provisional
    COG1196
    Location:8831256
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    COG2319
    Location:332485
    WD40; WD40 repeat [General function prediction only]
  2. XM_006526532.5XP_006526595.1  cilia- and flagella-associated protein 43 isoform X2

    Conserved Domains (3) summary
    COG2319
    Location:332537
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:321358
    7WD40; WD40 repeat [structural motif]
    pfam02463
    Location:9251605
    SMC_N; RecF/RecN/SMC N terminal domain
  3. XM_017318031.3XP_017173520.1  cilia- and flagella-associated protein 43 isoform X5

    Conserved Domains (2) summary
    PTZ00121
    Location:7021050
    PTZ00121; MAEBL; Provisional
    pfam02463
    Location:519867
    SMC_N; RecF/RecN/SMC N terminal domain
  4. XM_017318032.3XP_017173521.1  cilia- and flagella-associated protein 43 isoform X6

    Conserved Domains (1) summary
    PTZ00121
    Location:532738
    PTZ00121; MAEBL; Provisional
  5. XM_036161360.1XP_036017253.1  cilia- and flagella-associated protein 43 isoform X3

    Conserved Domains (4) summary
    PTZ00121
    Location:11081539
    PTZ00121; MAEBL; Provisional
    COG1196
    Location:9271300
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    COG2319
    Location:332537
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:321358
    7WD40; WD40 repeat [structural motif]
  6. XM_006526534.5XP_006526597.1  cilia- and flagella-associated protein 43 isoform X4

    Conserved Domains (3) summary
    COG1196
    Location:9271300
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    COG2319
    Location:332537
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:321358
    7WD40; WD40 repeat [structural motif]

RNA

  1. XR_003952732.2 RNA Sequence

  2. XR_001782551.3 RNA Sequence