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    Cfap61 cilia and flagella associated protein 61 [ Mus musculus (house mouse) ]

    Gene ID: 78774, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Cfap61provided by MGI
    Official Full Name
    cilia and flagella associated protein 61provided by MGI
    Primary source
    MGI:MGI:1926024
    See related
    Ensembl:ENSMUSG00000037143 AllianceGenome:MGI:1926024
    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
    4930529M08Rik
    Summary
    Acts upstream of or within flagellated sperm motility and spermatid nucleus elongation. Located in axoneme and sperm flagellum. Part of radial spoke stalk. Used to study oligoasthenoteratozoospermia. Human ortholog(s) of this gene implicated in spermatogenic failure 84. Orthologous to human CFAP61 (cilia and flagella associated protein 61). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in testis adult (RPKM 5.7) and lung adult (RPKM 0.3) See more
    Orthologs
    human all
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    Genomic context

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    See Cfap61 in Genome Data Viewer
    Location:
    2 G1; 2 71.28 cM
    Exon count:
    30
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 2 NC_000068.8 (145776677..146056955)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 2 NC_000068.7 (145934757..146215035)

    Chromosome 2 - NC_000068.8Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_05933 Neighboring gene STARR-positive B cell enhancer ABC_E8796 Neighboring gene STARR-positive B cell enhancer ABC_E5996 Neighboring gene STARR-positive B cell enhancer mm9_chr2:145783203-145783504 Neighboring gene N(alpha)-acetyltransferase 20, NatB catalytic subunit Neighboring gene crooked neck pre-mRNA splicing factor 1 Neighboring gene STARR-seq mESC enhancer starr_05934 Neighboring gene STARR-seq mESC enhancer starr_05935 Neighboring gene STARR-seq mESC enhancer starr_05936 Neighboring gene predicted gene, 34629 Neighboring gene RIKEN cDNA A930019D19 gene Neighboring gene Ral GTPase activating protein, alpha subunit 2 (catalytic) Neighboring gene insulinoma-associated 1

    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. Absence of murine CFAP61 causes male infertility due to multiple morphological abnormalities of the flagella. Huang T, et al. Sci Bull (Beijing), 2020 May 30. PMID 36659204
    2. Biallelic CFAP61 variants cause male infertility in humans and mice with severe oligoasthenoteratozoospermia. Hu T, et al. J Med Genet, 2023 Feb. PMID 35387802
    3. CFAP61 is required for sperm flagellum formation and male fertility in human and mouse. Liu S, et al. Development, 2021 Dec 1. PMID 34792097
    4. Identification of positional candidate genes for body weight and adiposity in subcongenic mice. Chiu S, et al. Physiol Genomics, 2007 Sep 19. PMID 17536020
    5. Mouse screen reveals multiple new genes underlying mouse and human hearing loss. Ingham NJ, et al. PLoS Biol, 2019 Apr. PMID 30973865, Free PMC Article

    See all (16) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. 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.
    2. 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.
    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

    • MGC58680, MGC129508, MGC129509

    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 
    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
    		  
    acts_upstream_of_or_within flagellated sperm motility IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in sperm flagellum assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of sperm flagellum assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within sperm flagellum assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in sperm flagellum assembly ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within spermatid nucleus elongation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in axoneme IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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 ISA
    Inferred from Sequence Alignment
    more info
    		 PubMed 
    part_of radial spoke stalk IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    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
    		  
    located_in sperm flagellum IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    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_001369121.1 → NP_001356050.1  cilia- and flagella-associated protein 61 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AL672100, AL732467, AL935056
      Consensus CDS
      CCDS89562.1
      UniProtKB/Swiss-Prot
      Q3KNX7, Q8CEL2, Q8R1E0
      UniProtKB/TrEMBL
      A8Y5L4, B2FDI8
      Related
      ENSMUSP00000118411.2, ENSMUST00000133433.8
      Conserved Domains (2) summary
      COG1251
      Location:660 → 779
      NirB; NAD(P)H-nitrite reductase, large subunit [Energy production and conversion]
      pfam16092
      Location:15 → 268
      DUF4821; Domain of unknown function (DUF4821)

    2. NM_175280.3 → NP_780489.2  cilia- and flagella-associated protein 61 isoform 2

      See identical proteins and their annotated locations for NP_780489.2

      Status: VALIDATED

      Source sequence(s)
      AK038772
      Consensus CDS
      CCDS50736.1
      UniProtKB/TrEMBL
      B7ZCD6
      Related
      ENSMUSP00000112099.2, ENSMUST00000116398.8
      Conserved Domains (1) summary
      pfam16092
      Location:15 → 237
      DUF4821; Domain of unknown function (DUF4821)

    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_000068.8 Reference GRCm39 C57BL/6J

      Range
      145776677..146056955
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_030252249.1 → XP_030108109.1  cilia- and flagella-associated protein 61 isoform X1

      UniProtKB/Swiss-Prot
      Q3KNX7, Q8CEL2, Q8R1E0
      Conserved Domains (2) summary
      COG1251
      Location:660 → 779
      NirB; NAD(P)H-nitrite reductase, large subunit [Energy production and conversion]
      pfam16092
      Location:17 → 268
      DUF4821; Domain of unknown function (DUF4821)

    2. XM_030252246.2 → XP_030108106.1  cilia- and flagella-associated protein 61 isoform X2

      UniProtKB/Swiss-Prot
      Q3KNX7, Q8CEL2, Q8R1E0
      Conserved Domains (2) summary
      COG1251
      Location:658 → 777
      NirB; NAD(P)H-nitrite reductase, large subunit [Energy production and conversion]
      pfam16092
      Location:17 → 268
      DUF4821; Domain of unknown function (DUF4821)

    3. XM_036162725.1 → XP_036018618.1  cilia- and flagella-associated protein 61 isoform X7

      Conserved Domains (1) summary
      pfam16092
      Location:17 → 268
      DUF4821; Domain of unknown function (DUF4821)

    4. XM_030252245.1 → XP_030108105.1  cilia- and flagella-associated protein 61 isoform X1

      UniProtKB/Swiss-Prot
      Q3KNX7, Q8CEL2, Q8R1E0
      Conserved Domains (2) summary
      COG1251
      Location:660 → 779
      NirB; NAD(P)H-nitrite reductase, large subunit [Energy production and conversion]
      pfam16092
      Location:17 → 268
      DUF4821; Domain of unknown function (DUF4821)

    5. XM_036162724.1 → XP_036018617.1  cilia- and flagella-associated protein 61 isoform X6

      Conserved Domains (2) summary
      COG1251
      Location:419 → 538
      NirB; NAD(P)H-nitrite reductase, large subunit [Energy production and conversion]
      pfam16092
      Location:1 → 27
      DUF4821; Domain of unknown function (DUF4821)

    6. XM_030252247.1 → XP_030108107.1  cilia- and flagella-associated protein 61 isoform X3

      UniProtKB/Swiss-Prot
      Q3KNX7, Q8CEL2, Q8R1E0
      Conserved Domains (2) summary
      COG1251
      Location:596 → 715
      NirB; NAD(P)H-nitrite reductase, large subunit [Energy production and conversion]
      pfam16092
      Location:2 → 204
      DUF4821; Domain of unknown function (DUF4821)

    7. XM_030252250.1 → XP_030108110.1  cilia- and flagella-associated protein 61 isoform X5

      UniProtKB/Swiss-Prot
      Q3KNX7, Q8CEL2, Q8R1E0
      Conserved Domains (2) summary
      COG1251
      Location:464 → 583
      NirB; NAD(P)H-nitrite reductase, large subunit [Energy production and conversion]
      pfam16092
      Location:1 → 72
      DUF4821; Domain of unknown function (DUF4821)

    8. XM_030252248.2 → XP_030108108.1  cilia- and flagella-associated protein 61 isoform X4

      UniProtKB/Swiss-Prot
      Q3KNX7, Q8CEL2, Q8R1E0
      Conserved Domains (2) summary
      COG1251
      Location:556 → 675
      NirB; NAD(P)H-nitrite reductase, large subunit [Energy production and conversion]
      pfam16092
      Location:1 → 164
      DUF4821; Domain of unknown function (DUF4821)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8CEL2.2 GenPept UniProtKB/Swiss-Prot:Q8CEL2

    Gene LinkOut

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

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