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    DNAAF5 dynein axonemal assembly factor 5 [ Homo sapiens (human) ]

    Gene ID: 54919, updated on 25-May-2017
    Official Symbol
    DNAAF5provided by HGNC
    Official Full Name
    dynein axonemal assembly factor 5provided by HGNC
    Primary source
    HGNC:HGNC:26013
    See related
    Ensembl:ENSG00000164818 MIM:614864; Vega:OTTHUMG00000151416
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CILD18; HEATR2
    Summary
    The protein encoded by this gene is essential for the preassembly or stability of axonemal dynein arms, and is found only in organisms with motile cilia and flagella. Mutations in this gene are associated with primary ciliary dyskinesia-18, a disorder characterized by abnormalities of motile cilia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Feb 2013]
    Orthologs
    Location:
    7p22.3
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 7 NC_000007.14 (726701..786479)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (766338..826116)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene protein kinase cAMP-dependent type I regulatory subunit beta Neighboring gene uncharacterized LOC101926963 Neighboring gene uncharacterized LOC105375119 Neighboring gene cuticle collagen 34-like Neighboring gene Sad1 and UNC84 domain containing 1 Neighboring gene golgi to ER traffic protein 4

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ20397, FLJ25564, FLJ31671, FLJ39381

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    dynein intermediate chain binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    cilium movement IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    inner dynein arm assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    outer dynein arm assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    NOT motile cilium IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    dynein assembly factor 5, axonemal
    Names
    HEAT repeat containing 2
    HEAT repeat-containing protein 2

    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.

    Genomic

    1. NG_033137.1 RefSeqGene

      Range
      5001..64779
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_017802.3NP_060272.3  dynein assembly factor 5, axonemal

      See identical proteins and their annotated locations for NP_060272.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the protein-coding transcript.
      Source sequence(s)
      AC144411, AK056233, AK098430, BC047240, BM743055, CB238804
      Consensus CDS
      CCDS34580.1
      UniProtKB/Swiss-Prot
      Q86Y56
      UniProtKB/TrEMBL
      B3KPE2
      Related
      ENSP00000297440.6, OTTHUMP00000199961, ENST00000297440.10, OTTHUMT00000322542
      Conserved Domains (1) summary
      sd00044
      Location:246274
      HEAT; HEAT repeat [structural motif]

    RNA

    1. NR_075098.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate acceptor splice site at an internal exon compared to variant 1. It is represented as non-coding because the use of the 5'-most translational start codon, as used in variant 1, renders this transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC144411, AK056233, AK098430, BC047240, CB238804

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p7 Primary Assembly

      Range
      726701..786479
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018918.2 Alternate CHM1_1.1

      Range
      765930..825538
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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