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

    Gene ID: 54919, updated on 9-Dec-2024

    Summary

    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; AllianceGenome:HGNC:26013
    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]
    Expression
    Ubiquitous expression in testis (RPKM 5.5), colon (RPKM 5.1) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See DNAAF5 in Genome Data Viewer
    Location:
    7p22.3
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (726699..786475)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (829794..889570)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (766336..826112)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene protein kinase cAMP-dependent type I regulatory subunit beta Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25471 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:643285-643970 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25473 Neighboring gene PRKAR1B antisense RNA 1 Neighboring gene uncharacterized LOC105375119 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:653082-653582 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:653583-654083 Neighboring gene MPRA-validated peak6334 silencer Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr7:690976-692175 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:715563-715737 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:736050-736550 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:736551-737051 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17815 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17816 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17817 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17818 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17819 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:770503-771002 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr7:791462-792661 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:807142-808341 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:821444-822643 Neighboring gene uncharacterized LOC124901567 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:837226-837726 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:849762-850262 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:850239-850399 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:853271-853834 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:852706-853270 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:855273-856014 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17820 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17821 Neighboring gene Sharpr-MPRA regulatory region 7003 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:869831-870726 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25474 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:871666-872865 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25475 Neighboring gene Sad1 and UNC84 domain containing 1 Neighboring gene uncharacterized LOC124901568

    Genomic regions, transcripts, and products

    Expression

    • 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 Apr 4 07:08:55 2018

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ20397, FLJ25564, FLJ31671, FLJ39381

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables dynein intermediate chain binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables dynein intermediate chain binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in cilium movement IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cilium movement IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in inner dynein arm assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in inner dynein arm assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in outer dynein arm assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in outer dynein arm assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in dynein axonemal particle ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    NOT located_in motile cilium IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    dynein axonemal assembly factor 5
    Names
    HEAT repeat containing 2
    HEAT repeat-containing protein 2
    dynein assembly factor 5, axonemal

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      4999..64775
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_017802.4NP_060272.3  dynein axonemal assembly factor 5

      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
      Q69YL1, Q86Y56, Q96FI9, Q9NX75
      Related
      ENSP00000297440.6, ENST00000297440.11
      Conserved Domains (1) summary
      sd00044
      Location:246274
      HEAT; HEAT repeat [structural motif]

    RNA

    1. NR_075098.2 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: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      726699..786475
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024446813.2XP_024302581.1  dynein axonemal assembly factor 5 isoform X1

      Conserved Domains (1) summary
      sd00044
      Location:246274
      HEAT; HEAT repeat [structural motif]

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      829794..889570
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054358536.1XP_054214511.1  dynein axonemal assembly factor 5 isoform X1