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

    Gene ID: 54919, updated on 20-Apr-2024

    Summary

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    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
    mouse all
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    Genomic context

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    Location:
    7p22.3
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (726699..786475)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (829794..889570)
    105.20220307 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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

    Bibliography

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    Related articles in PubMed

    1. Whole-exome capture and sequencing identifies HEATR2 mutation as a cause of primary ciliary dyskinesia. Horani A, et al. Am J Hum Genet, 2012 Oct 5. PMID 23040496, Free PMC Article
    2. Inhibition of G1P3 expression found in the differential display study on respiratory syncytial virus infection. Zhao D, et al. Virol J, 2008 Oct 6. PMID 18838000, Free PMC Article
    3. DNAAF5 promotes hepatocellular carcinoma malignant progression by recruiting USP39 to improve PFKL protein stability. Liu Y, et al. Front Oncol, 2022. PMID 36276075, Free PMC Article
    4. HEATR2 plays a conserved role in assembly of the ciliary motile apparatus. Diggle CP, et al. PLoS Genet, 2014 Sep. PMID 25232951, Free PMC Article
    5. Primary Ciliary Dyskinesia. Adam MP, et al. , 1993. PMID 20301301

    See all (53) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    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

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    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)

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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.

    Genomic

    1. NG_033137.1 RefSeqGene

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

    mRNA and Protein(s)

    1. NM_017802.4 → NP_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:246 → 274
      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_2023_10

    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_024446813.2 → XP_024302581.1  dynein axonemal assembly factor 5 isoform X1

      Conserved Domains (1) summary
      sd00044
      Location:246 → 274
      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_054358536.1 → XP_054214511.1  dynein axonemal assembly factor 5 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q86Y56.4 GenPept UniProtKB/Swiss-Prot:Q86Y56

    Gene LinkOut

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

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