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    Cfap65 cilia and flagella associated protein 65 [ Mus musculus (house mouse) ]

    Gene ID: 241116, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Cfap65provided by MGI
    Official Full Name
    cilia and flagella associated protein 65provided by MGI
    Primary source
    MGI:MGI:2444274
    See related
    Ensembl:ENSMUSG00000047021 AllianceGenome:MGI:2444274
    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
    Ccdc108; A230051F10; B230363K08Rik
    Summary
    Involved in sperm axoneme assembly. Located in cytoplasm and sperm flagellum. Is expressed in lateral ventricle choroid plexus; lung; metencephalon part of 4th ventricle choroid plexus; and testis. Used to study spermatogenic failure 40. Human ortholog(s) of this gene implicated in spermatogenic failure 40. Orthologous to human CFAP65 (cilia and flagella associated protein 65). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in testis adult (RPKM 56.8), lung adult (RPKM 7.4) and 1 other tissue See more
    Orthologs
    human all
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    Genomic context

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    See Cfap65 in Genome Data Viewer
    Location:
    1 C4; 1 38.54 cM
    Exon count:
    34
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 1 NC_000067.7 (74941230..74974785, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 1 NC_000067.6 (74902071..74935626, complement)

    Chromosome 1 - NC_000067.7Genomic Context describing neighboring genes Neighboring gene crystallin, beta A2 Neighboring gene microRNA 375 Neighboring gene Indian hedgehog Neighboring gene non-homologous end joining factor 1 Neighboring gene STARR-seq mESC enhancer starr_01350 Neighboring gene STARR-seq mESC enhancer starr_01351 Neighboring gene STARR-seq mESC enhancer starr_01352

    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. CFAP65 is required in the acrosome biogenesis and mitochondrial sheath assembly during spermiogenesis. Wang W, et al. Hum Mol Genet, 2021 Nov 16. PMID 34231842
    2. A novel homozygous CFAP65 mutation in humans causes male infertility with multiple morphological abnormalities of the sperm flagella. Zhang X, et al. Clin Genet, 2019 Dec. PMID 31571197
    3. Biallelic mutations in CFAP65 cause male infertility with multiple morphological abnormalities of the sperm flagella in humans and mice. Li W, et al. J Med Genet, 2020 Feb. PMID 31501240
    4. Deleterious variants in X-linked CFAP47 induce asthenoteratozoospermia and primary male infertility. Liu C, et al. Am J Hum Genet, 2021 Feb 4. PMID 33472045, Free PMC Article
    5. MORC2B is essential for meiotic progression and fertility. Shi B, et al. PLoS Genet, 2018 Jan. PMID 29329290, Free PMC Article

    See all (22) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. CFAP65 is required in the acrosome biogenesis and mitochondrial sheath assembly during spermiogenesis.
      Title: CFAP65 is required in the acrosome biogenesis and mitochondrial sheath assembly during spermiogenesis.
    2. Biallelic mutations in CFAP65 cause male infertility with multiple morphological abnormalities of the sperm flagella in humans and mice.
      Title: Biallelic mutations in CFAP65 cause male infertility with multiple morphological abnormalities of the sperm flagella in humans and mice.
    3. Ccdc108 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)
    • Endonuclease-mediated (4)  1 citation
    • Targeted (2) 

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in flagellated sperm motility IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in sperm axoneme assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in sperm axoneme assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in acrosomal membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    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 cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in sperm flagellum IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in sperm flagellum IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in sperm flagellum ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in sperm midpiece ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in sperm midpiece ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    cilia- and flagella-associated protein 65
    Names
    coiled-coil domain containing 108
    coiled-coil domain-containing protein 108

    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_001039495.2 → NP_001034584.1  cilia- and flagella-associated protein 65

      See identical proteins and their annotated locations for NP_001034584.1

      Status: VALIDATED

      Source sequence(s)
      AC139023
      Consensus CDS
      CCDS15060.1
      UniProtKB/Swiss-Prot
      Q3V0B4
      UniProtKB/TrEMBL
      B9EKJ0
      Related
      ENSMUSP00000092440.4, ENSMUST00000094844.4
      Conserved Domains (1) summary
      cl13764
      Location:288 → 354
      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
      74941230..74974785 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006495993.2 → XP_006496056.1  cilia- and flagella-associated protein 65 isoform X5

      UniProtKB/TrEMBL
      B9EKJ0
      Conserved Domains (1) summary
      cl13764
      Location:192 → 258
      ASH; Abnormal spindle-like microcephaly-assoc'd, ASPM-SPD-2-Hydin

    2. XM_011238524.2 → XP_011236826.1  cilia- and flagella-associated protein 65 isoform X3

      UniProtKB/TrEMBL
      B9EKJ0
      Conserved Domains (1) summary
      cl13764
      Location:213 → 279
      ASH; Abnormal spindle-like microcephaly-assoc'd, ASPM-SPD-2-Hydin

    3. XM_006495991.2 → XP_006496054.1  cilia- and flagella-associated protein 65 isoform X2

      UniProtKB/TrEMBL
      B9EKJ0
      Conserved Domains (1) summary
      cl13764
      Location:288 → 354
      ASH; Abnormal spindle-like microcephaly-assoc'd, ASPM-SPD-2-Hydin

    4. XM_006495990.1 → XP_006496053.1  cilia- and flagella-associated protein 65 isoform X1

      See identical proteins and their annotated locations for XP_006496053.1

      UniProtKB/Swiss-Prot
      Q3V0B4
      UniProtKB/TrEMBL
      B9EKJ0
      Conserved Domains (1) summary
      cl13764
      Location:288 → 354
      ASH; Abnormal spindle-like microcephaly-assoc'd, ASPM-SPD-2-Hydin

    5. XM_030254139.1 → XP_030109999.1  cilia- and flagella-associated protein 65 isoform X6

      UniProtKB/TrEMBL
      B9EKJ0
      Conserved Domains (1) summary
      cl13764
      Location:184 → 250
      ASH; Abnormal spindle-like microcephaly-assoc'd, ASPM-SPD-2-Hydin

    6. XM_006495995.4 → XP_006496058.1  cilia- and flagella-associated protein 65 isoform X7

      UniProtKB/TrEMBL
      B9EKJ0
      Conserved Domains (1) summary
      cl13764
      Location:111 → 177
      ASH; Abnormal spindle-like microcephaly-assoc'd, ASPM-SPD-2-Hydin

    7. XM_030254142.1 → XP_030110002.1  cilia- and flagella-associated protein 65 isoform X7

      UniProtKB/TrEMBL
      B9EKJ0
      Conserved Domains (1) summary
      cl13764
      Location:111 → 177
      ASH; Abnormal spindle-like microcephaly-assoc'd, ASPM-SPD-2-Hydin

    8. XM_006495992.4 → XP_006496055.1  cilia- and flagella-associated protein 65 isoform X4

      UniProtKB/TrEMBL
      B9EKJ0
      Conserved Domains (1) summary
      cl13764
      Location:207 → 273
      ASH; Abnormal spindle-like microcephaly-assoc'd, ASPM-SPD-2-Hydin

    9. XM_006495997.4 → XP_006496060.1  cilia- and flagella-associated protein 65 isoform X8

      Conserved Domains (1) summary
      cl13764
      Location:288 → 354
      ASH; Abnormal spindle-like microcephaly-assoc'd, ASPM-SPD-2-Hydin

    RNA

    1. XR_373253.2 RNA Sequence

    2. XR_003955586.1 RNA Sequence

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_172848.2: Suppressed sequence

      Description
      NM_172848.2: This RefSeq was permanently suppressed because it is a nonsense-mediated decay (NMD) candidate.
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q3V0B4.1 GenPept UniProtKB/Swiss-Prot:Q3V0B4

    Gene LinkOut

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

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