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    dnaaf1 dynein axonemal assembly factor 1 [ Danio rerio (zebrafish) ]

    Gene ID: 386722, updated on 9-Dec-2024

    Summary

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    Official Symbol
    dnaaf1provided by ZNC
    Official Full Name
    dynein axonemal assembly factor 1provided by ZNC
    Primary source
    ZFIN:ZDB-GENE-031114-4
    See related
    Ensembl:ENSDARG00000012030 AllianceGenome:ZFIN:ZDB-GENE-031114-4
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Danio rerio
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
    Also known as
    swt; lrrc50; zgc:56169
    Summary
    Enables dynein complex binding activity. Involved in cilium assembly. Acts upstream of or within several processes, including axoneme assembly; central canal development; and embryonic heart tube development. Predicted to be located in cilium. Predicted to be active in axoneme. Is expressed in several structures, including chordo neural hinge; forerunner cell group; intermediate mesoderm; nervous system; and pronephric duct. Used to study autosomal dominant polycystic kidney disease; idiopathic scoliosis; seminoma; and testicular germ cell cancer. Human ortholog(s) of this gene implicated in primary ciliary dyskinesia 13. Orthologous to human DNAAF1 (dynein axonemal assembly factor 1). [provided by Alliance of Genome Resources, Dec 2024]
    Orthologs
    human mouse all
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    Genomic context

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    See dnaaf1 in Genome Data Viewer
    Location:
    chromosome: 7
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCz11 (GCF_000002035.6) 7 NC_007118.7 (29012033..29017231)
    105 previous assembly GRCz10 (GCF_000002035.5) 7 NC_007118.6 (28740883..28746081)

    Chromosome 7 - NC_007118.7Genomic Context describing neighboring genes Neighboring gene coiled-coil domain containing 102A Neighboring gene docking protein 4 Neighboring gene neuritin 1-like b Neighboring gene component of oligomeric golgi complex 4

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
    • Description: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
    • BioProject: PRJEB1986
    • Analysis date: Fri Dec 8 19:48:10 2017

    Bibliography

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    Related articles in PubMed

    1. Rare disruptive mutations in ciliary function genes contribute to testicular cancer susceptibility. Litchfield K, et al. Nat Commun, 2016 Dec 20. PMID 27996046, Free PMC Article
    2. Mutations in the Motile Cilia Gene DNAAF1 Are Associated with Neural Tube Defects in Humans. Miao C, et al. G3 (Bethesda), 2016 Oct 13. PMID 27543293, Free PMC Article
    3. Zebrafish mutations affecting cilia motility share similar cystic phenotypes and suggest a mechanism of cyst formation that differs from pkd2 morphants. Sullivan-Brown J, et al. Dev Biol, 2008 Feb 15. PMID 18178183, Free PMC Article
    4. DNAAF1 links heart laterality with the AAA+ ATPase RUVBL1 and ciliary intraflagellar transport. Hartill VL, et al. Hum Mol Genet, 2018 Feb 1. PMID 29228333, Free PMC Article
    5. Direct and indirect roles for Nodal signaling in two axis conversions during asymmetric morphogenesis of the zebrafish heart. Baker K, et al. Proc Natl Acad Sci U S A, 2008 Sep 16. PMID 18784369, Free PMC Article

    See all (26) citations in PubMed

    GeneRIFs: Gene References Into Functions

    General gene information

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    Homology

    Gene Ontology Provided by ZFIN

    Function Evidence Code Pubs
    enables dynein complex binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables dynein complex binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables dynein complex binding IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in axoneme assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within axoneme assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within cell migration involved in heart jogging IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within central canal development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cilium assembly IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within convergent extension involved in gastrulation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within determination of heart left/right asymmetry IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within determination of left/right symmetry IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within embryonic heart tube morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within gastrulation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within heart jogging IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within heart looping IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within heart rudiment morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within pronephros development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within spermatogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in axoneme IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in axoneme ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in cell projection IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cilium IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    dynein axonemal assembly factor 1
    Names
    dynein assembly factor 1, axonemal
    leucine rich repeat containing 50
    leucine-rich repeat-containing protein 50
    switch hitter
    unm tm317b

    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_001319131.1 → NP_001306060.1  dynein axonemal assembly factor 1

      Status: VALIDATED

      Source sequence(s)
      CR376738
      UniProtKB/Swiss-Prot
      Q7ZV84
      UniProtKB/TrEMBL
      A0A8M1P8E4, F1Q654
      Related
      ENSDARP00000115728.1, ENSDART00000145762.4
      Conserved Domains (3) summary
      cd00116
      Location:34 → 224
      LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
      sd00033
      Location:78 → 97
      LRR_RI; leucine-rich repeat [structural motif]
      pfam13855
      Location:140 → 199
      LRR_8; Leucine rich repeat

    RefSeqs of Annotated Genomes: GCF_000002035.6-RS_2024_08

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

    Reference GRCz11 Primary Assembly

    Genomic

    1. NC_007118.7 Reference GRCz11 Primary Assembly

      Range
      29012033..29017231
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_198826.1: Suppressed sequence

      Description
      NM_198826.1: This RefSeq was removed because currently there is insufficient support for the transcript and the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q7ZV84.2 GenPept UniProtKB/Swiss-Prot:Q7ZV84

    Gene LinkOut

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

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