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    CFAP61 cilia and flagella associated protein 61 [ Homo sapiens (human) ]

    Gene ID: 26074, updated on 10-Dec-2024

    Summary

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    Official Symbol
    CFAP61provided by HGNC
    Official Full Name
    cilia and flagella associated protein 61provided by HGNC
    Primary source
    HGNC:HGNC:15872
    See related
    Ensembl:ENSG00000089101 MIM:620381; AllianceGenome:HGNC:15872
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SPGF84; CaM-IP3; C20orf26; dJ1002M8.3; dJ1178H5.4
    Summary
    Involved in sperm flagellum assembly. Predicted to be located in radial spoke stalk and sperm flagellum. Implicated in spermatogenic failure 84. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in testis (RPKM 3.3), heart (RPKM 1.5) and 2 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CFAP61 in Genome Data Viewer
    Location:
    20p11.23
    Exon count:
    28
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (20052532..20360698)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (20106812..20419226)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (20033176..20341342)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12706 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:19819023-19819524 Neighboring gene Ras and Rab interactor 2 Neighboring gene ribosomal protein L12 pseudogene 12 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:19866384-19866884 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17601 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17602 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:19938653-19939384 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr20:19939385-19940116 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:19960987-19961488 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:19961489-19961988 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:19973649-19974520 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17603 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12708 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr20:19999269-20000468 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:19998307-19998807 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12707 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17604 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17605 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12709 Neighboring gene uncharacterized LOC124904880 Neighboring gene NANOG hESC enhancer GRCh37_chr20:20086826-20087390 Neighboring gene N-alpha-acetyltransferase 20, NatB catalytic subunit Neighboring gene crooked neck pre-mRNA splicing factor 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr20:20146043-20146208 Neighboring gene uncharacterized LOC105372554 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17606 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:20247710-20248210 Neighboring gene CFAP61 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17607 Neighboring gene ribosomal protein L17 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12710 Neighboring gene RNA, 7SL, cytoplasmic 690, pseudogene Neighboring gene Sharpr-MPRA regulatory region 7426 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:20347841-20348611 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr20:20373434-20374633 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:20375428-20375972 Neighboring gene Sharpr-MPRA regulatory region 956 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:20375973-20376516 Neighboring gene NANOG hESC enhancer GRCh37_chr20:20391221-20391855 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17608 Neighboring gene Ral GTPase activating protein catalytic subunit alpha 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17609 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17610 Neighboring gene INSM transcriptional repressor 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17611 Neighboring gene VISTA enhancer hs688 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17612 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17613 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17614 Neighboring gene eukaryotic translation initiation factor 4E family member 2 pseudogene 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Identification of a novel CFAP61 homozygous splicing variant associated with multiple morphological abnormalities of the flagella. Barbotin AL, et al. J Assist Reprod Genet, 2024 Jun. PMID 38775994,
    2. Biallelic Variants in CFAP61 Cause Multiple Morphological Abnormalities of the Flagella and Male Infertility. Ma A, et al. Front Cell Dev Biol, 2021. PMID 35174165, Free PMC Article
    3. CFAP61 knockdown aggravates male infertility by inhibiting testosterone secretion by Leydig cells via the MAPK/COX-2 pathway. Zhu W, et al. Funct Integr Genomics, 2023 Nov 20. PMID 37982895
    4. Biallelic CFAP61 variants cause male infertility in humans and mice with severe oligoasthenoteratozoospermia. Hu T, et al. J Med Genet, 2023 Feb. PMID 35387802
    5. A conserved CaM- and radial spoke associated complex mediates regulation of flagellar dynein activity. Dymek EE, et al. J Cell Biol, 2007 Nov 5. PMID 17967944, Free PMC Article

    See all (14) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Identification of a novel CFAP61 homozygous splicing variant associated with multiple morphological abnormalities of the flagella.
      Title: Identification of a novel CFAP61 homozygous splicing variant associated with multiple morphological abnormalities of the flagella.
    2. CFAP61 knockdown aggravates male infertility by inhibiting testosterone secretion by Leydig cells via the MAPK/COX-2 pathway.
      Title: CFAP61 knockdown aggravates male infertility by inhibiting testosterone secretion by Leydig cells via the MAPK/COX-2 pathway.
    3. Biallelic CFAP61 variants cause male infertility in humans and mice with severe oligoasthenoteratozoospermia.
      Title: Biallelic CFAP61 variants cause male infertility in humans and mice with severe oligoasthenoteratozoospermia.
    4. CFAP61 is required for sperm flagellum formation and male fertility in human and mouse.
      Title: CFAP61 is required for sperm flagellum formation and male fertility in human and mouse.
    5. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    6. Observational study of gene-disease association. (HuGE Navigator)
      Title: Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Spermatogenic failure 84
    MedGen: C5830562 OMIM: 620409 GeneReviews: Not available
    		not available

    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

    • DKFZp434K156

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in cilium movement ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in cilium organization ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in sperm flagellum assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in sperm flagellum assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in axoneme ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in motile cilium ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    part_of radial spoke stalk ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in sperm flagellum IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    cilia- and flagella-associated protein 61

    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_001167816.1 → NP_001161288.1  cilia- and flagella-associated protein 61 isoform 2

      See identical proteins and their annotated locations for NP_001161288.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) has multiple differences, compared to variant 1. The encoded isoform (2) is shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AL035454, AL049648, AL117439
      Consensus CDS
      CCDS54452.1
      UniProtKB/Swiss-Prot
      Q8NHU2
      Related
      ENSP00000414537.2, ENST00000451767.6
      Conserved Domains (1) summary
      pfam16092
      Location:15 → 272
      DUF4821; Domain of unknown function (DUF4821)

    2. NM_015585.4 → NP_056400.3  cilia- and flagella-associated protein 61 isoform 1

      See identical proteins and their annotated locations for NP_056400.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AK307817, AL035454, AL049648, AL161658, BC028708
      Consensus CDS
      CCDS33447.1
      UniProtKB/Swiss-Prot
      A6NHA1, Q5JXV4, Q5TE18, Q8N5R9, Q8NHU2, Q96M59, Q9BQL2, Q9H127, Q9H128, Q9NQH4, Q9UFV8, Q9Y4V7
      UniProtKB/TrEMBL
      B7Z8Z0
      Related
      ENSP00000245957.5, ENST00000245957.10
      Conserved Domains (1) summary
      pfam16092
      Location:15 → 272
      DUF4821; Domain of unknown function (DUF4821)

    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_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      20052532..20360698
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      20106812..20419226
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8NHU2.3 GenPept UniProtKB/Swiss-Prot:Q8NHU2

    Gene LinkOut

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

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