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Cfap119 cilia and flagella associated protein 119 [ Mus musculus (house mouse) ]

Gene ID: 233899, updated on 28-Oct-2024

Summary

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Official Symbol
Cfap119provided by MGI
Official Full Name
cilia and flagella associated protein 119provided by MGI
Primary source
MGI:MGI:2685012
See related
Ensembl:ENSMUSG00000057176 AllianceGenome:MGI:2685012
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
Gm166; Ccdc189
Summary
Acts upstream of or within gene expression; single fertilization; and sperm flagellum assembly. Part of radial spoke. Is active in axoneme. Is expressed in Meckel's cartilage and skeleton. Orthologous to human CFAP119 (cilia and flagella associated protein 119). [provided by Alliance of Genome Resources, Oct 2024]
Expression
Biased expression in testis adult (RPKM 271.5) and thymus adult (RPKM 11.1) See more
Orthologs
human all
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Genomic context

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See Cfap119 in Genome Data Viewer
Location:
7 F3; 7 69.61 cM
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 7 NC_000073.7 (127182527..127187819, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 7 NC_000073.6 (127582383..127588666, complement)

Chromosome 7 - NC_000073.7Genomic Context describing neighboring genes Neighboring gene transmembrane protein 265 Neighboring gene CapStarr-seq enhancer MGSCv37_chr7:134716729-134716937 Neighboring gene phosphorylase kinase, gamma 2 (testis) Neighboring gene STARR-positive B cell enhancer ABC_E6607 Neighboring gene ring finger protein 40 Neighboring gene RIKEN cDNA 1700120K04 gene

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. CCDC189 depletion leads to oligo-astheno-teratozoospermia and male infertility in mice†. Zhou H, et al. Biol Reprod, 2024 Oct 14. PMID 39018224
  2. CCDC189 affects sperm flagellum formation by interacting with CABCOCO1. Wang M, et al. Natl Sci Rev, 2023 Sep. PMID 37601242, Free PMC Article
  3. Identification of transcripts with enriched expression in the developing and adult pancreas. Hoffman BG, et al. Genome Biol, 2008. PMID 18554416, Free PMC Article
  4. Genetic determinants of micronucleus formation in vivo. Adams DJ, et al. Nature, 2024 Mar. PMID 38355793, Free PMC Article
  5. Wnk1 kinase deficiency lowers blood pressure in mice: a gene-trap screen to identify potential targets for therapeutic intervention. Zambrowicz BP, et al. Proc Natl Acad Sci U S A, 2003 Nov 25. PMID 14610273, Free PMC Article

See all (14) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. CCDC189 depletion leads to oligo-astheno-teratozoospermia and male infertility in micedagger.
    Title: CCDC189 depletion leads to oligo-astheno-teratozoospermia and male infertility in mice†.
Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Endonuclease-mediated (3)  1 citation
  • Targeted (2) 

General gene information

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Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables molecular_function ND
No biological Data available
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in biological_process ND
No biological Data available
more info
  
acts_upstream_of_or_within gene expression IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within single fertilization IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within sperm flagellum assembly IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
located_in acrosomal vesicle ISO
Inferred from Sequence Orthology
more info
  
located_in acrosomal vesicle ISS
Inferred from Sequence or Structural Similarity
more info
  
is_active_in axoneme IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in cellular_component ND
No biological Data available
more info
  
located_in cytoplasm ISO
Inferred from Sequence Orthology
more info
  
located_in cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
  
part_of radial spoke IDA
Inferred from Direct Assay
more info
 PubMed 
located_in sperm principal piece ISO
Inferred from Sequence Orthology
more info
  
located_in sperm principal piece ISS
Inferred from Sequence or Structural Similarity
more info
  

General protein information

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Preferred Names
cilia- and flagella-associated protein 119
Names
coiled-coil domain containing 189
coiled-coil domain-containing protein 189

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_001033040.4 → NP_001028212.1  cilia- and flagella-associated protein 119 isoform 1

    See identical proteins and their annotated locations for NP_001028212.1

    Status: VALIDATED

    Source sequence(s)
    AC122417
    Consensus CDS
    CCDS21870.1
    UniProtKB/Swiss-Prot
    Q3UST8, Q6NZQ0
    Related
    ENSMUSP00000072019.4, ENSMUST00000072155.5
    Conserved Domains (1) summary
    pfam14769
    Location:130 → 224
    CLAMP; Flagellar C1a complex subunit C1a-32

  2. NM_001382406.1 → NP_001369335.1  cilia- and flagella-associated protein 119 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC122417
    Conserved Domains (1) summary
    pfam14769
    Location:130 → 184
    CLAMP; Flagellar C1a complex subunit C1a-32

  3. NM_001382407.1 → NP_001369336.1  cilia- and flagella-associated protein 119 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC122417
    Conserved Domains (1) summary
    pfam14769
    Location:130 → 184
    CLAMP; Flagellar C1a complex subunit C1a-32

RNA

  1. NR_175799.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC122417

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_000073.7 Reference GRCm39 C57BL/6J

    Range
    127182527..127187819 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006507745.5 → XP_006507808.1  cilia- and flagella-associated protein 119 isoform X1

    Conserved Domains (1) summary
    pfam14769
    Location:130 → 288
    CLAMP; Flagellar C1a complex subunit C1a-32
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6NZQ0.2 GenPept UniProtKB/Swiss-Prot:Q6NZQ0

Gene LinkOut

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