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    DNAAF3 dynein axonemal assembly factor 3 [ Homo sapiens (human) ]

    Gene ID: 352909, updated on 10-Dec-2024

    Summary

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    Official Symbol
    DNAAF3provided by HGNC
    Official Full Name
    dynein axonemal assembly factor 3provided by HGNC
    Primary source
    HGNC:HGNC:30492
    See related
    Ensembl:ENSG00000167646 MIM:614566; AllianceGenome:HGNC:30492
    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
    PCD; DAB1; PF22; CILD2; C19orf51
    Summary
    The protein encoded by this gene is required for the assembly of axonemal inner and outer dynein arms and plays a role in assembling dynein complexes for transport into cilia. Defects in this gene are a cause of primary ciliary dyskinesia type 2 (CILD2). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]
    Expression
    Biased expression in testis (RPKM 22.9), heart (RPKM 3.1) and 1 other tissue See more
    Orthologs
    mouse all
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    Genomic context

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    See DNAAF3 in Genome Data Viewer
    Location:
    19q13.42
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (55158661..55166722, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (58252720..58260781, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (55670029..55678090, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene troponin T1, slow skeletal type Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15077 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr19:55652829-55653333 Neighboring gene troponin I3, cardiac type Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:55668291-55668878 Neighboring gene DNAAF3 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11016 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:55672120-55673046 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:55677361-55677592 Neighboring gene small nucleolar RNA U13 Neighboring gene synaptotagmin 5 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15078 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:55691190-55691602

    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. Clinical and genetic analysis of patients with primary ciliary dyskinesia caused by novel DNAAF3 mutations. Guo Z, et al. J Hum Genet, 2019 Aug. PMID 31186518
    2. A locus for primary ciliary dyskinesia maps to chromosome 19q. Meeks M, et al. J Med Genet, 2000 Apr. PMID 10745040, Free PMC Article
    3. Variation in Cilia Protein Genes and Progression of Lung Disease in Cystic Fibrosis. Blue E, et al. Ann Am Thorac Soc, 2018 Apr. PMID 29323929, Free PMC Article
    4. Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia. Mitchison HM, et al. Nat Genet, 2012 Mar 4. PMID 22387996, Free PMC Article
    5. Primary Ciliary Dyskinesia. Adam MP, et al. , 1993. PMID 20301301

    See all (15) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. as the first report on DNAAF3 mutations in PCD patients in China, our study not only expands the spectrum of DNAAF3 mutations but also further complements the detailed phenotype characteristics of these patients.
      Title: Clinical and genetic analysis of patients with primary ciliary dyskinesia caused by novel DNAAF3 mutations.
    2. Genetic variants within DNAH6, DNAH14, and DNAAF3 are associated with variation in lung function among persons with cystic fibrosis.
      Title: Variation in Cilia Protein Genes and Progression of Lung Disease in Cystic Fibrosis.
    3. study identified loss-of-function mutations in the human DNAAF3 gene in individuals from families with situs inversus and defects in the assembly of inner and outer dynein arm
      Title: Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia.
    Submit: New GeneRIF Correction

    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

    Associated conditions

    Description Tests
    Primary ciliary dyskinesia 2
    MedGen: C1847554 OMIM: 606763 GeneReviews: Primary Ciliary Dyskinesia
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Potential readthrough

    Included gene: TNNI3

    Homology

    Clone Names

    • FLJ36139, FLJ40069

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in axonemal dynein complex assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in axonemal dynein complex assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in determination of left/right symmetry IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in heart development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in motile cilium assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in motile cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in dynein axonemal particle ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    dynein axonemal assembly factor 3
    Names
    UPF0470 protein C19orf51

    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_032759.1 RefSeqGene

      Range
      5110..13058
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001256714.1 → NP_001243643.1  dynein axonemal assembly factor 3 isoform 1

      See identical proteins and their annotated locations for NP_001243643.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AK093458, AK097388, AW182162, DB093464
      Consensus CDS
      CCDS58680.1
      UniProtKB/Swiss-Prot
      Q8N9W5
      UniProtKB/TrEMBL
      A0A0C4DH81
      Related
      ENSP00000436975.2, ENST00000527223.6
      Conserved Domains (2) summary
      pfam14737
      Location:114 → 190
      DUF4470; Domain of unknown function (DUF4470)
      pfam14740
      Location:222 → 507
      DUF4471; Domain of unknown function (DUF4471)

    2. NM_001256715.2 → NP_001243644.1  dynein axonemal assembly factor 3 isoform 3

      See identical proteins and their annotated locations for NP_001243644.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses two alternate splice sites, compared to variant 1. These differences cause translation initiation at a downstream AUG and result in an isoform (3) with a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      BC016843, DB093464
      Consensus CDS
      CCDS59422.1
      UniProtKB/Swiss-Prot
      A8MUY0, E3W9A1, E9PAX5, Q6P4F6, Q8N9W0, Q8N9W5, Q96AR2
      Related
      ENSP00000432046.3, ENST00000524407.7
      Conserved Domains (2) summary
      pfam14737
      Location:18 → 122
      DUF4470; Domain of unknown function (DUF4470)
      pfam14740
      Location:154 → 443
      DUF4471; Domain of unknown function (DUF4471)

    3. NM_001256716.2 → NP_001243645.1  dynein axonemal assembly factor 3 isoform 4

      See identical proteins and their annotated locations for NP_001243645.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) uses two alternate splice sites, compared to variant 1. These differences cause translation initiation at an alternate downstream AUG and result in an isoform (4) with a shorter and distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      BC016843, BC063449, DB093464
      Consensus CDS
      CCDS58679.1
      UniProtKB/Swiss-Prot
      Q8N9W5
      UniProtKB/TrEMBL
      A0A0C4DH50
      Related
      ENSP00000394343.1, ENST00000455045.5
      Conserved Domains (2) summary
      pfam14737
      Location:23 → 68
      DUF4470; Domain of unknown function (DUF4470)
      pfam14740
      Location:100 → 386
      DUF4471; Domain of unknown function (DUF4471)

    4. NM_178837.4 → NP_849159.2  dynein axonemal assembly factor 3 isoform 2

      See identical proteins and their annotated locations for NP_849159.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1.
      Source sequence(s)
      AK097388, AW182162, BC016843, DB093464
      Consensus CDS
      CCDS12918.2
      UniProtKB/Swiss-Prot
      Q8N9W5
      UniProtKB/TrEMBL
      A0A0A0MS19
      Related
      ENSP00000375600.5, ENST00000391720.8
      Conserved Domains (2) summary
      pfam14737
      Location:65 → 169
      DUF4470; Domain of unknown function (DUF4470)
      pfam14740
      Location:201 → 487
      DUF4471; Domain of unknown function (DUF4471)

    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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      55158661..55166722 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      58252720..58260781 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001031802.1: Suppressed sequence

      Description
      NM_001031802.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N9W5.4 GenPept UniProtKB/Swiss-Prot:Q8N9W5

    Gene LinkOut

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

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