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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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