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

Gene ID: 352909, updated on 2-Nov-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
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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 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
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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

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

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