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    Cfap57 cilia and flagella associated protein 57 [ Mus musculus (house mouse) ]

    Gene ID: 68625, updated on 30-Apr-2024

    Summary

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    Official Symbol
    Cfap57provided by MGI
    Official Full Name
    cilia and flagella associated protein 57provided by MGI
    Primary source
    MGI:MGI:2686209
    See related
    Ensembl:ENSMUSG00000028730 AllianceGenome:MGI:2686209
    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
    Wdr65; Gm1363; 1110020C03Rik; C130004B06Rik
    Summary
    Is expressed in brain. Orthologous to human CFAP57 (cilia and flagella associated protein 57). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in testis adult (RPKM 24.8) and lung adult (RPKM 0.9) See more
    Orthologs
    human all
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    Genomic context

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    See Cfap57 in Genome Data Viewer
    Location:
    4 D2.1; 4 54.84 cM
    Exon count:
    25
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 4 NC_000070.7 (118411747..118477982, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 4 NC_000070.6 (118554550..118620819, complement)

    Chromosome 4 - NC_000070.7Genomic Context describing neighboring genes Neighboring gene transmembrane protein 125 Neighboring gene predicted gene, 40237 Neighboring gene predicted gene, 52677 Neighboring gene STARR-positive B cell enhancer ABC_E4653 Neighboring gene EBNA1 binding protein 2 Neighboring gene DNA segment, Chr 4, ERATO Doi 617, expressed Neighboring gene predicted gene 12853

    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. Loss-of-function mutations in CFAP57 cause multiple morphological abnormalities of the flagella in humans and mice. Ma A, et al. JCI Insight, 2023 Feb 8. PMID 36752199, Free PMC Article
    2. Genomic strategy identifies a missense mutation in WD-repeat domain 65 (WDR65) in an individual with Van der Woude syndrome. Rorick NK, et al. Am J Med Genet A, 2011 Jun. PMID 21574244, Free PMC Article
    3. Szt2, a novel gene for seizure threshold in mice. Frankel WN, et al. Genes Brain Behav, 2009 Jul. PMID 19624305, Free PMC Article
    4. Cell-free cotranslation and selection using in vitro virus for high-throughput analysis of protein-protein interactions and complexes. Miyamoto-Sato E, et al. Genome Res, 2005 May. PMID 15867431, Free PMC Article
    5. Tissue expression patterns identify mouse cilia genes. McClintock TS, et al. Physiol Genomics, 2008 Jan 17. PMID 17971504

    See all (19) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
    		  
    Process Evidence Code Pubs
    acts_upstream_of_or_within axonemal dynein complex assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within cilium organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within single fertilization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within sperm flagellum assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in sperm flagellum IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    cilia- and flagella-associated protein 57
    Names
    WD repeat domain 65
    WD repeat-containing protein 65

    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_026789.5 → NP_081065.2  cilia- and flagella-associated protein 57

      See identical proteins and their annotated locations for NP_081065.2

      Status: VALIDATED

      Source sequence(s)
      AL669952, BX321881, BX842610
      Consensus CDS
      CCDS51286.1
      UniProtKB/Swiss-Prot
      A2ACY9, Q9D180
      Related
      ENSMUSP00000071863.5, ENSMUST00000071972.11
      Conserved Domains (9) summary
      TIGR01843
      Location:1004 → 1249
      type_I_hlyD; type I secretion membrane fusion protein, HlyD family
      COG1340
      Location:790 → 1080
      COG1340; Uncharacterized coiled-coil protein, contains DUF342 domain [Function unknown]
      COG2319
      Location:71 → 576
      WD40; WD40 repeat [General function prediction only]
      pfam16046
      Location:880 → 1027
      FAM76; FAM76 protein
      sd00039
      Location:391 → 430
      7WD40; WD40 repeat [structural motif]
      cd16269
      Location:829 → 840
      GBP_C; coiled coil [structural motif]
      cl02434
      Location:202 → 329
      CNH; CNH domain
      cl02567
      Location:387 → 665
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
      cl20817
      Location:728 → 854
      GBP_C; Guanylate-binding protein, C-terminal domain

    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_000070.7 Reference GRCm39 C57BL/6J

      Range
      118411747..118477982 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006503371.4 → XP_006503434.1  cilia- and flagella-associated protein 57 isoform X1

      Conserved Domains (6) summary
      TIGR01843
      Location:933 → 1178
      type_I_hlyD; type I secretion membrane fusion protein, HlyD family
      COG1196
      Location:712 → 1047
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      COG2319
      Location:29 → 254
      WD40; WD40 repeat [General function prediction only]
      PRK04863
      Location:621 → 789
      mukB; chromosome partition protein MukB
      sd00039
      Location:340 → 386
      7WD40; WD40 repeat [structural motif]
      cl29593
      Location:340 → 606
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

    2. XM_036164394.1 → XP_036020287.1  cilia- and flagella-associated protein 57 isoform X3

      Conserved Domains (2) summary
      COG1196
      Location:141 → 409
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      PRK03918
      Location:258 → 579
      PRK03918; DNA double-strand break repair ATPase Rad50

    3. XM_036164393.1 → XP_036020286.1  cilia- and flagella-associated protein 57 isoform X2

      Conserved Domains (2) summary
      COG1196
      Location:170 → 505
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      NF033930
      Location:63 → 243
      pneumo_PspA; pneumococcal surface protein A

    RNA

    1. XR_003955005.2 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9D180.3 GenPept UniProtKB/Swiss-Prot:Q9D180

    Gene LinkOut

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

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