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    CFAP65 cilia and flagella associated protein 65 [ Homo sapiens (human) ]

    Gene ID: 255101, updated on 10-Dec-2024

    Summary

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    Official Symbol
    CFAP65provided by HGNC
    Official Full Name
    cilia and flagella associated protein 65provided by HGNC
    Primary source
    HGNC:HGNC:25325
    See related
    Ensembl:ENSG00000181378 MIM:614270; AllianceGenome:HGNC:25325
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SPGF40; CCDC108
    Summary
    The protein encoded by this gene has putative coiled-coil domains and may be a transmembrane protein. The chicken ortholog of this gene is involved in the Rose-comb mutation, which is a large chromosome inversion, resulting in altered comb morphology and defects in sperm motility. [provided by RefSeq, Aug 2016]
    Expression
    Biased expression in testis (RPKM 3.3) and lung (RPKM 1.0) See more
    Orthologs
    mouse all
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    Genomic context

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    See CFAP65 in Genome Data Viewer
    Location:
    2q35
    Exon count:
    36
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (219002846..219041551, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (219491221..219529920, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (219867568..219906273, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene crystallin beta A2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12339 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:219864283-219865266 Neighboring gene Sharpr-MPRA regulatory region 4963 Neighboring gene uncharacterized LOC100129175 Neighboring gene microRNA 375 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:219889982-219890482 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17138 Neighboring gene uncharacterized LOC107985987 Neighboring gene Indian hedgehog signaling molecule Neighboring gene microRNA 3131

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Male infertility-associated Ccdc108 regulates multiciliogenesis via the intraflagellar transport machinery. Zhao H, et al. EMBO Rep, 2022 Apr 5. PMID 35201641, Free PMC Article
    2. Biallelic mutations in CFAP65 lead to severe asthenoteratospermia due to acrosome hypoplasia and flagellum malformations. Wang W, et al. J Med Genet, 2019 Nov. PMID 31413122, Free PMC Article
    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. The Rose-comb mutation in chickens constitutes a structural rearrangement causing both altered comb morphology and defective sperm motility. Imsland F, et al. PLoS Genet, 2012 Jun. PMID 22761584, Free PMC Article

    See all (13) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Male infertility-associated Ccdc108 regulates multiciliogenesis via the intraflagellar transport machinery.
      Title: Male infertility-associated Ccdc108 regulates multiciliogenesis via the intraflagellar transport machinery.
    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. CFAP65 mutations may cause spermatozoa to be completely immotile.
      Title: Biallelic mutations in CFAP65 lead to severe asthenoteratospermia due to acrosome hypoplasia and flagellum malformations.
    Submit: New GeneRIF Correction

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Spermatogenic failure 40
    MedGen: C5231451 OMIM: 618664 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC35338, DKFZp434O0527

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding HDA PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in flagellated sperm motility ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in sperm axoneme assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in sperm axoneme assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in acrosomal membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in acrosomal vesicle IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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 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 midpiece IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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

    Genomic

    1. NG_051336.1 RefSeqGene

      Range
      5036..43706
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001278295.1 → NP_001265224.1  cilia- and flagella-associated protein 65 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) contains multiple differences in the UTRs and coding region, including the lack of multiple 3' coding exons, compared to variant 1. It initiates translation at an alternate upstream start codon. The encoded isoform (3) is shorter than isoform 1 and has distinct N- and C-termini.
      Source sequence(s)
      AK302688, BC047637, DB070903, HY027454
      Consensus CDS
      CCDS63126.1
      UniProtKB/TrEMBL
      B4DZ05
      Related
      ENSP00000386945.3, ENST00000409865.7
      Conserved Domains (1) summary
      cl13764
      Location:354 → 420
      ASH; Abnormal spindle-like microcephaly-assoc'd, ASPM-SPD-2-Hydin

    2. NM_001278296.2 → NP_001265225.1  cilia- and flagella-associated protein 65 isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) contains multiple differences in the UTRs and coding region, including the lack of multiple 3' coding exons, compared to variant 1. It initiates translation at a downstream in-frame start codon. The encoded isoform (4) is shorter than isoform 1 and has a shorter N-terminus and a distinct C-terminus.
      Source sequence(s)
      AK302678, BC047637, DB070903
      Consensus CDS
      CCDS63125.1
      UniProtKB/TrEMBL
      B4DYZ8
      Related
      ENSP00000386258.1, ENST00000410037.5
      Conserved Domains (1) summary
      cl13764
      Location:300 → 366
      ASH; Abnormal spindle-like microcephaly-assoc'd, ASPM-SPD-2-Hydin

    3. NM_152389.4 → NP_689602.2  cilia- and flagella-associated protein 65 isoform 2

      See identical proteins and their annotated locations for NP_689602.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains multiple differences in the UTRs and coding region, including the lack of multiple 3' coding exons, compared to variant 1. It initiates translation at a downstream in-frame start codon. The encoded isoform (2) is shorter than isoform 1 and has a shorter N-terminus and a distinct C-terminus.
      Source sequence(s)
      AC097468, AK302678, BC031585, DB070903
      Consensus CDS
      CCDS2431.2
      UniProtKB/TrEMBL
      Q4ZFW9
      Related
      ENSP00000295729.2, ENST00000295729.6

    4. NM_194302.4 → NP_919278.2  cilia- and flagella-associated protein 65 isoform 1

      See identical proteins and their annotated locations for NP_919278.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AA503417, AK127189, AK302688, BC130281, DB070903
      Consensus CDS
      CCDS2430.2
      UniProtKB/Swiss-Prot
      A2BDD8, E9PCR1, E9PG25, E9PG72, Q6ZSR8, Q6ZU64, Q8N0T4, Q8NDJ3
      Related
      ENSP00000340776.5, ENST00000341552.10
      Conserved Domains (1) summary
      cl13764
      Location:365 → 431
      ASH; Abnormal spindle-like microcephaly-assoc'd, ASPM-SPD-2-Hydin

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      219002846..219041551 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011510915.2 → XP_011509217.1  cilia- and flagella-associated protein 65 isoform X5

      See identical proteins and their annotated locations for XP_011509217.1

      Conserved Domains (1) summary
      cl13764
      Location:300 → 366
      ASH; Abnormal spindle-like microcephaly-assoc'd, ASPM-SPD-2-Hydin

    2. XM_017003753.2 → XP_016859242.1  cilia- and flagella-associated protein 65 isoform X3

    3. XM_011510908.2 → XP_011509210.1  cilia- and flagella-associated protein 65 isoform X2

      See identical proteins and their annotated locations for XP_011509210.1

      Conserved Domains (1) summary
      cl13764
      Location:365 → 431
      ASH; Abnormal spindle-like microcephaly-assoc'd, ASPM-SPD-2-Hydin

    4. XM_047443873.1 → XP_047299829.1  cilia- and flagella-associated protein 65 isoform X2

    5. XM_011510904.3 → XP_011509206.1  cilia- and flagella-associated protein 65 isoform X1

      See identical proteins and their annotated locations for XP_011509206.1

      Conserved Domains (1) summary
      cl13764
      Location:366 → 432
      ASH; Abnormal spindle-like microcephaly-assoc'd, ASPM-SPD-2-Hydin

    6. XM_011510914.2 → XP_011509216.1  cilia- and flagella-associated protein 65 isoform X5

      See identical proteins and their annotated locations for XP_011509216.1

      Conserved Domains (1) summary
      cl13764
      Location:300 → 366
      ASH; Abnormal spindle-like microcephaly-assoc'd, ASPM-SPD-2-Hydin

    7. XM_011510911.2 → XP_011509213.1  cilia- and flagella-associated protein 65 isoform X5

      See identical proteins and their annotated locations for XP_011509213.1

      Conserved Domains (1) summary
      cl13764
      Location:300 → 366
      ASH; Abnormal spindle-like microcephaly-assoc'd, ASPM-SPD-2-Hydin

    8. XM_011510909.2 → XP_011509211.1  cilia- and flagella-associated protein 65 isoform X2

      See identical proteins and their annotated locations for XP_011509211.1

      Conserved Domains (1) summary
      cl13764
      Location:365 → 431
      ASH; Abnormal spindle-like microcephaly-assoc'd, ASPM-SPD-2-Hydin

    9. XM_017003752.2 → XP_016859241.1  cilia- and flagella-associated protein 65 isoform X2

      Conserved Domains (1) summary
      cl13764
      Location:365 → 431
      ASH; Abnormal spindle-like microcephaly-assoc'd, ASPM-SPD-2-Hydin

    10. XM_017003754.2 → XP_016859243.1  cilia- and flagella-associated protein 65 isoform X5

      Conserved Domains (1) summary
      cl13764
      Location:300 → 366
      ASH; Abnormal spindle-like microcephaly-assoc'd, ASPM-SPD-2-Hydin

    11. XM_011510912.2 → XP_011509214.1  cilia- and flagella-associated protein 65 isoform X5

      See identical proteins and their annotated locations for XP_011509214.1

      Conserved Domains (1) summary
      cl13764
      Location:300 → 366
      ASH; Abnormal spindle-like microcephaly-assoc'd, ASPM-SPD-2-Hydin

    12. XM_011510916.2 → XP_011509218.1  cilia- and flagella-associated protein 65 isoform X6

      Conserved Domains (1) summary
      cl13764
      Location:273 → 339
      ASH; Abnormal spindle-like microcephaly-assoc'd, ASPM-SPD-2-Hydin

    13. XM_011510910.2 → XP_011509212.1  cilia- and flagella-associated protein 65 isoform X4

      Conserved Domains (1) summary
      cl13764
      Location:366 → 432
      ASH; Abnormal spindle-like microcephaly-assoc'd, ASPM-SPD-2-Hydin

    14. XM_011510903.2 → XP_011509205.1  cilia- and flagella-associated protein 65 isoform X1

      See identical proteins and their annotated locations for XP_011509205.1

      Conserved Domains (1) summary
      cl13764
      Location:366 → 432
      ASH; Abnormal spindle-like microcephaly-assoc'd, ASPM-SPD-2-Hydin

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      219491221..219529920 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054341286.1 → XP_054197261.1  cilia- and flagella-associated protein 65 isoform X7

    2. XM_054341280.1 → XP_054197255.1  cilia- and flagella-associated protein 65 isoform X3

    3. XM_054341279.1 → XP_054197254.1  cilia- and flagella-associated protein 65 isoform X2

    4. XM_054341276.1 → XP_054197251.1  cilia- and flagella-associated protein 65 isoform X2

    5. XM_054341275.1 → XP_054197250.1  cilia- and flagella-associated protein 65 isoform X1

    6. XM_054341285.1 → XP_054197260.1  cilia- and flagella-associated protein 65 isoform X7

    7. XM_054341283.1 → XP_054197258.1  cilia- and flagella-associated protein 65 isoform X7

    8. XM_054341277.1 → XP_054197252.1  cilia- and flagella-associated protein 65 isoform X2

    9. XM_054341278.1 → XP_054197253.1  cilia- and flagella-associated protein 65 isoform X2

    10. XM_054341284.1 → XP_054197259.1  cilia- and flagella-associated protein 65 isoform X7

    11. XM_054341282.1 → XP_054197257.1  cilia- and flagella-associated protein 65 isoform X7

    12. XM_054341287.1 → XP_054197262.1  cilia- and flagella-associated protein 65 isoform X6

    13. XM_054341281.1 → XP_054197256.1  cilia- and flagella-associated protein 65 isoform X4

    14. XM_054341274.1 → XP_054197249.1  cilia- and flagella-associated protein 65 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6ZU64.2 GenPept UniProtKB/Swiss-Prot:Q6ZU64

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