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    Cfap44 cilia and flagella associated protein 44 [ Mus musculus (house mouse) ]

    Gene ID: 212517, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Cfap44provided by MGI
    Official Full Name
    cilia and flagella associated protein 44provided by MGI
    Primary source
    MGI:MGI:1277238
    See related
    Ensembl:ENSMUSG00000071550 AllianceGenome:MGI:1277238
    Gene type
    protein coding
    RefSeq status
    PROVISIONAL
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Wdr52; Gm1750; D16Ertd642e; 6330444M21Rik
    Summary
    Predicted to enable peptidase activity. Involved in sperm axoneme assembly. Acts upstream of or within several processes, including cilium organization; nucleus organization; and spermatogenesis. Predicted to be located in axoneme. Is expressed in choroid plexus and floor plate. Used to study spermatogenic failure 20. Human ortholog(s) of this gene implicated in spermatogenic failure 20. Orthologous to human CFAP44 (cilia and flagella associated protein 44). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in testis adult (RPKM 4.1), CNS E14 (RPKM 1.6) and 11 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Cfap44 in Genome Data Viewer
    Location:
    16 B4; 16 28.72 cM
    Exon count:
    39
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 16 NC_000082.7 (44215103..44303057)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 16 NC_000082.6 (44394742..44482694)

    Chromosome 16 - NC_000082.7Genomic Context describing neighboring genes Neighboring gene SID1 transmembrane family, member 1 Neighboring gene STARR-seq mESC enhancer starr_40897 Neighboring gene STARR-seq mESC enhancer starr_40898 Neighboring gene STARR-seq mESC enhancer starr_40899 Neighboring gene spindle and centriole associated protein 1 Neighboring gene STARR-seq mESC enhancer starr_40902 Neighboring gene STARR-seq mESC enhancer starr_40903 Neighboring gene STARR-seq mESC enhancer starr_40904 Neighboring gene Boc Hedgehog-responsive enhancer Neighboring gene STARR-seq mESC enhancer starr_40905 Neighboring gene BOC cell adhesion associated, oncogene regulated Neighboring gene VISTA enhancer mm1504 Neighboring gene predicted gene, 30064 Neighboring gene microRNA 3081

    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. Creation of knock out and knock in mice by CRISPR/Cas9 to validate candidate genes for human male infertility, interest, difficulties and feasibility. Kherraf ZE, et al. Mol Cell Endocrinol, 2018 Jun 15. PMID 29522859
    2. Oligogenic heterozygous inheritance of sperm abnormalities in mouse. Martinez G, et al. Elife, 2022 Apr 22. PMID 35451961, Free PMC Article
    3. Biallelic Mutations in CFAP43 and CFAP44 Cause Male Infertility with Multiple Morphological Abnormalities of the Sperm Flagella. Tang S, et al. Am J Hum Genet, 2017 Jun 1. PMID 28552195, Free PMC Article
    4. Mutations in CFAP43 and CFAP44 cause male infertility and flagellum defects in Trypanosoma and human. Coutton C, et al. Nat Commun, 2018 Feb 15. PMID 29449551, Free PMC Article
    5. Isolation of novel tissue-specific genes from cDNA libraries representing the individual tissue constituents of the gastrulating mouse embryo. Harrison SM, et al. Development, 1995 Aug. PMID 7671812

    See all (20) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. biallelic mutations in either CFAP43 or CFAP44 can cause sperm flagellar abnormalities and impair sperm motility.
      Title: Biallelic Mutations in CFAP43 and CFAP44 Cause Male Infertility with Multiple Morphological Abnormalities of the Sperm Flagella.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (3)  1 citation
    • Targeted (1) 

    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 peptidase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    acts_upstream_of_or_within cell morphogenesis IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    acts_upstream_of_or_within cell morphogenesis 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 flagellated sperm motility IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in flagellated sperm motility IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within microtubule cytoskeleton organization ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within nucleus organization IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    acts_upstream_of_or_within sperm axoneme assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in sperm axoneme assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in sperm axoneme assembly ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within sperm motility IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    acts_upstream_of_or_within spermatogenesis IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    acts_upstream_of_or_within spermatogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in axoneme ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in cellular_component ND
    No biological Data available
    more info
    		  
    located_in motile cilium IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    cilia- and flagella-associated protein 44
    Names
    WD repeat domain 52

    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_001033247.1 → NP_001028419.1  cilia- and flagella-associated protein 44

      See identical proteins and their annotated locations for NP_001028419.1

      Status: PROVISIONAL

      Source sequence(s)
      AC147045
      Consensus CDS
      CCDS49854.1
      UniProtKB/Swiss-Prot
      E9Q5M6
      Related
      ENSMUSP00000097331.3, ENSMUST00000099742.9
      Conserved Domains (5) summary
      COG1196
      Location:1537 → 1817
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      COG2319
      Location:222 → 601
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:263 → 305
      7WD40; WD40 repeat [structural motif]
      pfam02463
      Location:903 → 1817
      SMC_N; RecF/RecN/SMC N terminal domain
      cl29593
      Location:793 → 873
      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 ...

    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_000082.7 Reference GRCm39 C57BL/6J

      Range
      44215103..44303057
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011245864.4 → XP_011244166.1  cilia- and flagella-associated protein 44 isoform X1

      See identical proteins and their annotated locations for XP_011244166.1

      UniProtKB/Swiss-Prot
      E9Q5M6
      Conserved Domains (5) summary
      COG1196
      Location:1537 → 1817
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      COG2319
      Location:222 → 601
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:263 → 305
      7WD40; WD40 repeat [structural motif]
      pfam02463
      Location:903 → 1817
      SMC_N; RecF/RecN/SMC N terminal domain
      cl29593
      Location:793 → 873
      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_006521963.4 → XP_006522026.1  cilia- and flagella-associated protein 44 isoform X2

      Conserved Domains (5) summary
      COG1196
      Location:1428 → 1708
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      COG2319
      Location:113 → 492
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:154 → 196
      7WD40; WD40 repeat [structural motif]
      pfam02463
      Location:794 → 1708
      SMC_N; RecF/RecN/SMC N terminal domain
      cl29593
      Location:684 → 764
      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 ...

    3. XM_006521964.4 → XP_006522027.1  cilia- and flagella-associated protein 44 isoform X3

      Conserved Domains (5) summary
      COG1196
      Location:1370 → 1650
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      COG2319
      Location:55 → 434
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:96 → 138
      7WD40; WD40 repeat [structural motif]
      pfam02463
      Location:736 → 1650
      SMC_N; RecF/RecN/SMC N terminal domain
      cl29593
      Location:626 → 706
      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 ...

    4. XM_006521967.3 → XP_006522030.2  cilia- and flagella-associated protein 44 isoform X4

      Conserved Domains (4) summary
      COG1196
      Location:1231 → 1511
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      sd00039
      Location:156 → 192
      7WD40; WD40 repeat [structural motif]
      pfam02463
      Location:597 → 1511
      SMC_N; RecF/RecN/SMC N terminal domain
      cl29593
      Location:141 → 309
      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 ...

    5. XM_017316924.2 → XP_017172413.1  cilia- and flagella-associated protein 44 isoform X5

      Conserved Domains (1) summary
      COG1196
      Location:647 → 927
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

    RNA

    1. XR_004939179.1 RNA Sequence

    2. XR_003951775.2 RNA Sequence

    3. XR_003951774.2 RNA Sequence

    4. XR_003951772.2 RNA Sequence

    5. XR_875763.2 RNA Sequence

    6. XR_003951773.2 RNA Sequence

    7. XR_003951776.2 RNA Sequence

    8. XR_003951777.2 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    E9Q5M6.1 GenPept UniProtKB/Swiss-Prot:E9Q5M6

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