U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Gene ID: 241116, updated on 5-Mar-2024

Summary

Go to the top of the page Help
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; and metencephalon part of 4th ventricle choroid plexus. 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, Apr 2022]
Expression
Biased expression in testis adult (RPKM 56.8), lung adult (RPKM 7.4) and 1 other tissue See more
Orthologs
human all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
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

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • 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

Go to the top of the pageHelp

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 (21) 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

Go to the top of the page Help

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Targeted (2) 
  • Endonuclease-mediated (4)  1 citation

General gene information

Go to the top of the page Help

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
acts_upstream_of_or_within cell projection organization IEA
Inferred from Electronic Annotation
more info
  
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 vesicle ISO
Inferred from Sequence Orthology
more info
  
located_in cell projection IEA
Inferred from Electronic Annotation
more info
  
located_in cilium IEA
Inferred from Electronic Annotation
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 cytoplasmic vesicle IEA
Inferred from Electronic Annotation
more info
  
located_in membrane IEA
Inferred from Electronic Annotation
more info
  
located_in motile cilium IEA
Inferred from Electronic Annotation
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
  

General protein information

Go to the top of the page Help
Preferred Names
cilia- and flagella-associated protein 65
Names
coiled-coil domain containing 108
coiled-coil domain-containing protein 108

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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_001039495.1 → 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)
    AK133278
    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.

Molecular Biology Databases
Research Materials
Tools
Miscellaneous