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Cfap221 cilia and flagella associated protein 221 [ Mus musculus (house mouse) ]

Gene ID: 226356, updated on 11-Apr-2024

Summary

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Official Symbol
Cfap221provided by MGI
Official Full Name
cilia and flagella associated protein 221provided by MGI
Primary source
MGI:MGI:2684947
See related
Ensembl:ENSMUSG00000036962 AllianceGenome:MGI:2684947
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
Gm101; Pcdp1
Summary
Enables calmodulin binding activity. Acts upstream of or within cerebrospinal fluid circulation; motile cilium assembly; and mucociliary clearance. Located in extracellular region and sperm flagellum. Orthologous to human CFAP221 (cilia and flagella associated protein 221). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in testis adult (RPKM 4.0) and lung adult (RPKM 0.2) See more
Orthologs
human all
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Genomic context

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Location:
1 E2.3; 1 52.54 cM
Exon count:
27
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 1 NC_000067.7 (119851070..119934624, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 1 NC_000067.6 (119923340..120006958, complement)

Chromosome 1 - NC_000067.7Genomic Context describing neighboring genes Neighboring gene predicted gene 3551 Neighboring gene STARR-positive B cell enhancer ABC_E9474 Neighboring gene predicted gene 28209 Neighboring gene transmembrane protein 177 Neighboring gene predicted gene, 17973 Neighboring gene predicted gene, 33817 Neighboring gene secretin receptor Neighboring gene predicted gene, 33764 Neighboring gene predicted gene, 41936

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. Enhanced response to pulmonary Streptococcus pneumoniae infection is associated with primary ciliary dyskinesia in mice lacking Pcdp1 and Spef2. McKenzie CW, et al. Cilia, 2013 Dec 20. PMID 24360193, Free PMC Article
  2. Genetic interaction between central pair apparatus genes CFAP221, CFAP54, and SPEF2 in mouse models of primary ciliary dyskinesia. McKenzie CW, et al. Sci Rep, 2020 Jul 23. PMID 32704025, Free PMC Article
  3. SPAG17 Is Required for Male Germ Cell Differentiation and Fertility. Kazarian E, et al. Int J Mol Sci, 2018 Apr 21. PMID 29690537, Free PMC Article
  4. Pcdp1 is a central apparatus protein that binds Ca(2+)-calmodulin and regulates ciliary motility. DiPetrillo CG, et al. J Cell Biol, 2010 May 3. PMID 20421426, Free PMC Article
  5. Primary ciliary dyskinesia in mice lacking the novel ciliary protein Pcdp1. Lee L, et al. Mol Cell Biol, 2008 Feb. PMID 18039845, Free PMC Article

See all (8) citations in PubMed

GeneRIFs: Gene References Into Functions

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Endonuclease-mediated (1) 

General gene information

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Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables calmodulin binding IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
acts_upstream_of_or_within cell projection organization IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within cerebrospinal fluid circulation IGI
Inferred from Genetic Interaction
more info
 PubMed 
acts_upstream_of_or_within cerebrospinal fluid circulation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in cilium assembly IEA
Inferred from Electronic Annotation
more info
  
involved_in cilium movement IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within establishment of localization in cell IGI
Inferred from Genetic Interaction
more info
 PubMed 
acts_upstream_of_or_within establishment of localization in cell IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in motile cilium assembly IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within mucociliary clearance IGI
Inferred from Genetic Interaction
more info
 PubMed 
acts_upstream_of_or_within mucociliary clearance IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within sperm flagellum assembly IGI
Inferred from Genetic Interaction
more info
 PubMed 
acts_upstream_of_or_within sperm flagellum assembly IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
is_active_in 9+2 motile cilium IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in 9+2 motile cilium 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 IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytoskeleton IEA
Inferred from Electronic Annotation
more info
  
located_in extracellular region IGI
Inferred from Genetic Interaction
more info
 PubMed 
located_in manchette IDA
Inferred from Direct Assay
more info
 PubMed 
located_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 221
Names
primary ciliary dyskinesia 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_001115074.2 → NP_001108546.1  cilia- and flagella-associated protein 221

    See identical proteins and their annotated locations for NP_001108546.1

    Status: VALIDATED

    Source sequence(s)
    AC124760, AC165443
    Consensus CDS
    CCDS48340.1
    UniProtKB/Swiss-Prot
    A9Q751
    Related
    ENSMUSP00000134576.2, ENSMUST00000174370.8
    Conserved Domains (1) summary
    cl13764
    Location:60 → 127
    ASH; Abnormal spindle-like microcephaly-assoc'd, ASPM-SPD-2-Hydin

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
    119851070..119934624 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017319882.3 → XP_017175371.1  cilia- and flagella-associated protein 221 isoform X1

    UniProtKB/Swiss-Prot
    A9Q751
    Conserved Domains (1) summary
    cl13764
    Location:60 → 127
    ASH; Abnormal spindle-like microcephaly-assoc'd, ASPM-SPD-2-Hydin

  2. XM_017319886.1 → XP_017175375.1  cilia- and flagella-associated protein 221 isoform X2

  3. XM_006529404.3 → XP_006529467.1  cilia- and flagella-associated protein 221 isoform X3

Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
A9Q751.1 GenPept UniProtKB/Swiss-Prot:A9Q751

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