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    Ccdc146 coiled-coil domain containing 146 [ Mus musculus (house mouse) ]

    Gene ID: 75172, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Ccdc146provided by MGI
    Official Full Name
    coiled-coil domain containing 146provided by MGI
    Primary source
    MGI:MGI:1922422
    See related
    Ensembl:ENSMUSG00000064280 AllianceGenome:MGI:1922422
    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
    mKIAA1505; 4930528G09Rik
    Summary
    Acts upstream of or within several processes, including nucleus organization; single fertilization; and spermatid development. Predicted to be located in centriole and centrosome. Predicted to be active in cytoskeleton. Used to study male infertility. Human ortholog(s) of this gene implicated in spermatogenic failure 94. Orthologous to human CCDC146 (coiled-coil domain containing 146). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in testis adult (RPKM 5.6), ovary adult (RPKM 0.5) and 1 other tissue See more
    Orthologs
    human all
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    Genomic context

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    See Ccdc146 in Genome Data Viewer
    Location:
    5 A3; 5 9.83 cM
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 5 NC_000071.7 (21496749..21629675, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 5 NC_000071.6 (21292422..21424677, complement)

    Chromosome 5 - NC_000071.7Genomic Context describing neighboring genes Neighboring gene neuroepithelial cell transforming gene 1 pseudogene Neighboring gene predicted gene, 42222 Neighboring gene gamma-secretase activating protein Neighboring gene STARR-seq mESC enhancer starr_12563 Neighboring gene STARR-positive B cell enhancer ABC_E6308 Neighboring gene VISTA enhancer mm186 Neighboring gene STARR-positive B cell enhancer ABC_E6309 Neighboring gene predicted gene, 50626 Neighboring gene STARR-positive B cell enhancer ABC_E6310 Neighboring gene STARR-seq mESC enhancer starr_12565 Neighboring gene STARR-positive B cell enhancer ABC_E3562 Neighboring gene STARR-positive B cell enhancer ABC_E152 Neighboring gene fibrinogen-like protein 2 Neighboring gene family with sequence similarity 185, member A Neighboring gene F-box and leucine-rich repeat protein 13 Neighboring gene STARR-seq mESC enhancer starr_12566 Neighboring gene STARR-seq mESC enhancer starr_12567 Neighboring gene leucine rich repeat containing 17

    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. Homozygous CCDC146 mutation causes oligoasthenoteratozoospermia in humans and mice. Ye JW, et al. Zool Res, 2024 Sep 18. PMID 39245651, Free PMC Article
    2. Lack of CCDC146, a ubiquitous centriole and microtubule-associated protein, leads to non-syndromic male infertility in human and mouse. Muroňová J, et al. Elife, 2024 Mar 5. PMID 38441556, Free PMC Article
    3. Oligogenic heterozygous inheritance of sperm abnormalities in mouse. Martinez G, et al. Elife, 2022 Apr 22. PMID 35451961, Free PMC Article
    4. CCDC146 is required for sperm flagellum biogenesis and male fertility in mice. Ma Y, et al. Cell Mol Life Sci, 2023 Dec 1. PMID 38038747, Free PMC Article
    5. Tissue expression patterns identify mouse cilia genes. McClintock TS, et al. Physiol Genomics, 2008 Jan 17. PMID 17971504

    See all (16) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Homozygous CCDC146 mutation causes oligoasthenoteratozoospermia in humans and mice.
      Title: Homozygous CCDC146 mutation causes oligoasthenoteratozoospermia in humans and mice.
    2. Lack of CCDC146, a ubiquitous centriole and microtubule-associated protein, leads to non-syndromic male infertility in human and mouse.
      Title: Lack of CCDC146, a ubiquitous centriole and microtubule-associated protein, leads to non-syndromic male infertility in human and mouse.
    3. CCDC146 is required for sperm flagellum biogenesis and male fertility in mice.
      Title: CCDC146 is required for sperm flagellum biogenesis and male fertility in mice.
    4. 4930528G09Rik is most abundantly expressed in tissues rich in highly ciliated cells, such as olfactory sensory neurons, and is predicted to be important to cilia.
      Title: Tissue expression patterns identify mouse cilia genes.
    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

    • KIAA1505

    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 
    enables protein-containing complex binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    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 cilium organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within flagellated sperm motility IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within gene expression IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within manchette assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within nucleus organization IGI
    Inferred from Genetic Interaction
    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 
    acts_upstream_of_or_within sperm motility IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    acts_upstream_of_or_within spermatid development IMP
    Inferred from Mutant Phenotype
    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 centriole ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in centrosome ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in cytoskeleton IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    coiled-coil domain-containing protein 146

    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_029195.1 → NP_083471.1  coiled-coil domain-containing protein 146

      Status: VALIDATED

      Source sequence(s)
      AC113052, AK015926, AK220398, AU018841
      Consensus CDS
      CCDS51427.1
      UniProtKB/Swiss-Prot
      E9Q9F7, Q5DTX2
      Related
      ENSMUSP00000110900.2, ENSMUST00000115245.8
      Conserved Domains (1) summary
      COG1196
      Location:150 → 920
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

    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_000071.7 Reference GRCm39 C57BL/6J

      Range
      21496749..21629675 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_036165573.1 → XP_036021466.1  coiled-coil domain-containing protein 146 isoform X1

      Conserved Domains (2) summary
      TIGR02168
      Location:15 → 349
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      NF033930
      Location:247 → 551
      pneumo_PspA; pneumococcal surface protein A

    2. XM_017321126.3 → XP_017176615.1  coiled-coil domain-containing protein 146 isoform X2

      Conserved Domains (1) summary
      TIGR02168
      Location:56 → 381
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    E9Q9F7.1 GenPept UniProtKB/Swiss-Prot:E9Q9F7

    Gene LinkOut

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

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