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    Dnaaf1 dynein, axonemal, assembly factor 1 [ Rattus norvegicus (Norway rat) ]

    Gene ID: 361419, updated on 5-Mar-2024

    Summary

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    Official Symbol
    Dnaaf1provided by RGD
    Official Full Name
    dynein, axonemal, assembly factor 1provided by RGD
    Primary source
    RGD:1310542
    See related
    Ensembl:ENSRNOG00000015590 AllianceGenome:RGD:1310542
    Gene type
    protein coding
    RefSeq status
    PROVISIONAL
    Organism
    Rattus norvegicus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
    Also known as
    Lrrc50; RGD1310542
    Summary
    Predicted to enable dynein complex binding activity. Predicted to be involved in several processes, including cilium assembly; determination of left/right symmetry; and regulation of cilium beat frequency. Predicted to be located in cytosol; nuclear speck; and plasma membrane. Predicted to be active in axoneme. 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, Apr 2022]
    Expression
    Restricted expression toward (RPKM 813.5) See more
    Orthologs
    human mouse all
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    Genomic context

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    See Dnaaf1 in Genome Data Viewer
    Location:
    19q12
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) 19 NC_086037.1 (64532859..64560942)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 19 NC_051354.1 (47624534..47652314)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) 19 NC_005118.4 (52217427..52245930)

    Chromosome 19 - NC_086037.1Genomic Context describing neighboring genes Neighboring gene N-terminal EF-hand calcium binding protein 2 Neighboring gene solute carrier family 38, member 8 Neighboring gene membrane-bound transcription factor peptidase, site 1 Neighboring gene hydroxysteroid dehydrogenase like 1 Neighboring gene NADH:ubiquinone oxidoreductase subunit A2, pseudogene 3 Neighboring gene TATA-box binding protein associated factor, RNA polymerase 1 subunit C Neighboring gene adenosine deaminase domain containing 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
    • Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
    • BioProject: PRJNA238328
    • Publication: PMID 24510058
    • Analysis date: Mon Jun 6 17:44:12 2016

    Bibliography

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    Related articles in PubMed

    1. Loss-of-function mutations in the human ortholog of Chlamydomonas reinhardtii ODA7 disrupt dynein arm assembly and cause primary ciliary dyskinesia. Duquesnoy P, et al. Am J Hum Genet, 2009 Dec. PMID 19944405, Free PMC Article
    2. Deletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defects. Loges NT, et al. Am J Hum Genet, 2009 Dec. PMID 19944400, Free PMC Article
    3. LRRC50, a conserved ciliary protein implicated in polycystic kidney disease. van Rooijen E, et al. J Am Soc Nephrol, 2008 Jun. PMID 18385425, Free PMC Article
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Gerhard DS, et al. Genome Res, 2004 Oct. PMID 15489334, Free PMC Article
    5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article

    See all (6) citations in PubMed

    GeneRIFs: Gene References Into Functions

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by RGD

    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 ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables dynein complex binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Process Evidence Code Pubs
    involved_in axonemal dynein complex assembly ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in axoneme assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cilium assembly IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cilium assembly ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in cilium assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in cilium movement IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cilium movement ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in determination of digestive tract left/right asymmetry IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in determination of digestive tract left/right asymmetry ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in determination of liver left/right asymmetry IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in determination of liver left/right asymmetry ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in determination of pancreatic left/right asymmetry IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in determination of pancreatic left/right asymmetry ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in heart looping IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in heart looping ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in inner dynein arm assembly IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in inner dynein arm assembly ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in left/right pattern formation ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in lung development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in lung development ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in motile cilium assembly IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in motile cilium assembly ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in outer dynein arm assembly IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in outer dynein arm assembly ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in regulation of cilium beat frequency IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of cilium beat frequency ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    is_active_in axoneme IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in axoneme IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in axoneme ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in axoneme ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in cilium IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytosol IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nuclear speck IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nuclear speck ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    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

    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_001014154.1 → NP_001014176.1  dynein axonemal assembly factor 1

      See identical proteins and their annotated locations for NP_001014176.1

      Status: PROVISIONAL

      Source sequence(s)
      BC079038
      UniProtKB/Swiss-Prot
      Q6AYH9
      UniProtKB/TrEMBL
      A0A8I6A474, A6IZJ4
      Related
      ENSRNOP00000020917.3, ENSRNOT00000020917.5
      Conserved Domains (3) summary
      cd00116
      Location:116 → 252
      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:105 → 124
      LRR_RI; leucine-rich repeat [structural motif]
      pfam13855
      Location:145 → 201
      LRR_8; Leucine rich repeat

    RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

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

    Reference GRCr8

    Genomic

    1. NC_086037.1 Reference GRCr8

      Range
      64532859..64560942
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017601323.3 → XP_017456812.1  dynein axonemal assembly factor 1 isoform X3

      UniProtKB/TrEMBL
      A0A0G2K5B1, A0A8I6A474
      Related
      ENSRNOP00000073360.1

    2. XM_063278144.1 → XP_063134214.1  dynein axonemal assembly factor 1 isoform X1

    3. XM_063278145.1 → XP_063134215.1  dynein axonemal assembly factor 1 isoform X2

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6AYH9.1 GenPept UniProtKB/Swiss-Prot:Q6AYH9

    Gene LinkOut

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

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