Family Search for PF14737 (DUF4470)

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PF14737 hits 13 sequences in PaperBLAST's database above the trusted cutoff. Showing all hits. Or show only hits to curated sequences or try another family.

XP_002130641 dynein assembly factor 3, axonemal from Ciona intestinalis
Aligns to 13:115 / 460 (22.4%), covers 100.0% of PF14737, 98.4 bits

• Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia
  Mitchison, Nature genetics 2012
  • “...dendrobatidis , chytrid fungus); EGD81026 ( Salpingoeca sp., choanozoan); NP_849159 ( Homo sapiens , human); XP_002130641 ( Ciona intestinalis , sea squirt); AAI08526 ( Xenopus laevis , frog); XP_785142 ( Strongylocentrotus purpuratus , sea urchin). Figure 2 Identification of DNAAF3 mutations in PCD patients with dynein...”

DAAF3_XENLA / Q32NQ7 Dynein axonemal assembly factor 3 from Xenopus laevis (African clawed frog) (see paper)
NP_001089839 dynein assembly factor 3, axonemal from Xenopus laevis
Aligns to 13:118 / 485 (21.9%), covers 100.0% of PF14737, 88.0 bits

• function: Required for the assembly of axonemal inner and outer dynein arms. Involved in preassembly of dyneins into complexes before their transport into cilia (By similarity).
• The Drosophila orthologue of the primary ciliary dyskinesia-associated gene, DNAAF3, is required for axonemal dynein assembly
  Zur, Biology open 2021
  • “...(for C. reinhardtii PF22), NP_611336 (for Drosophila melanogaster CG17669), XP_003201392 (for Danio rerio predicted DNAAF3), NP_001089839 (for Xenopus laevis MGC130955), NP_001028720 (for Mus musculus DNAAF3), NP_001243643 (for Homo sapiens DNAAF3, isoform 1). (BG) Expression of Dnaaf3-mVenus fusion gene. (B) Schematic representation of Ch neuron arrangement in...”

DAAF3_DANRE / F1Q7Z7 Dynein axonemal assembly factor 3 from Danio rerio (Zebrafish) (Brachydanio rerio) (see paper)
Aligns to 15:111 / 469 (20.7%), covers 100.0% of PF14737, 87.8 bits

• function: Required for the assembly of axonemal inner and outer dynein arms. Involved in preassembly of dyneins into complexes before their transport into cilia.
  disruption phenotype: Static olfactory placode cilia; reduced movement of debris in the olfactory placode. The morphology and number of cilia in the olfactory placode is unaffected, but an abnormal ultrastructure in these cilia is observed, including reduced or missing outer and inner dynein arms.

DAAF3_HUMAN / Q8N9W5 Dynein axonemal assembly factor 3 from Homo sapiens (Human) (see paper)
NP_001243644 dynein axonemal assembly factor 3 isoform 3 from Homo sapiens
Aligns to 16:122 / 541 (19.8%), covers 100.0% of PF14737, 84.1 bits

• function: Required for the assembly of axonemal inner and outer dynein arms. Involved in preassembly of dyneins into complexes before their transport into cilia.
• The human olfactory cleft mucus proteome and its age-related changes.
  Yoshikawa, Scientific reports 2018
  • “...kappa chain V-III region VH (Fragment) 0.46 0.0252 0.0 0.0 6.7 0.5 3.3 0.2 26 Q8N9W5 59773 UPF0470 protein C19orf51 0.45 0.026 0.1 0.0 0.5 0.1 0.3 0.0 27 P04083 38918 Annexin A1 0.45 0.0287 43.4 2.5 40.2 1.4 41.8 1.0 28 P04745 58415 Alpha-amylase 1...”
• Clinical and genetic analysis of patients with primary ciliary dyskinesia caused by novel DNAAF3 mutations.
  Guo, Journal of human genetics 2019 (PubMed)
  • GeneRIF: 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.
• Variation in Cilia Protein Genes and Progression of Lung Disease in Cystic Fibrosis.
  Blue, Annals of the American Thoracic Society 2018
  • GeneRIF: Genetic variants within DNAH6, DNAH14, and DNAAF3 are associated with variation in lung function among persons with cystic fibrosis.
• Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia.
  Mitchison, Nature genetics 2012
  • GeneRIF: 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

NP_849159 dynein axonemal assembly factor 3 isoform 2 from Homo sapiens
Aligns to 63:169 / 588 (18.2%), covers 100.0% of PF14737, 83.9 bits

• Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia
  Mitchison, Nature genetics 2012
  • “...on human chromosome 19q13 (previously designated C19orf51 ) encodes a 588 amino acid protein (Genbank NP_849159). It was identified in expression studies as a potential cilia-related gene 35 whose transcript abundance increased 5.62-fold during cilia formation 36 . The DNAAF3 gene resides within a previously described...”
  • “...pseudonana , diatom); EGF76589 ( Batrachochytrium dendrobatidis , chytrid fungus); EGD81026 ( Salpingoeca sp., choanozoan); NP_849159 ( Homo sapiens , human); XP_002130641 ( Ciona intestinalis , sea squirt); AAI08526 ( Xenopus laevis , frog); XP_785142 ( Strongylocentrotus purpuratus , sea urchin). Figure 2 Identification of DNAAF3...”

XP_003201392 dynein assembly factor 3, axonemal-like from Danio rerio
Aligns to 15:111 / 469 (20.7%), covers 100.0% of PF14737, 83.4 bits

• The Drosophila orthologue of the primary ciliary dyskinesia-associated gene, DNAAF3, is required for axonemal dynein assembly
  Zur, Biology open 2021
  • “...numbers for the proteins are: AEC04845 (for C. reinhardtii PF22), NP_611336 (for Drosophila melanogaster CG17669), XP_003201392 (for Danio rerio predicted DNAAF3), NP_001089839 (for Xenopus laevis MGC130955), NP_001028720 (for Mus musculus DNAAF3), NP_001243643 (for Homo sapiens DNAAF3, isoform 1). (BG) Expression of Dnaaf3-mVenus fusion gene. (B) Schematic...”

DAAF3_DROME / A1ZB91 Dynein axonemal assembly factor 3 homolog from Drosophila melanogaster (Fruit fly) (see paper)
NP_611336 dynein axonemal assembly factor 3 from Drosophila melanogaster
Aligns to 2:124 / 540 (22.8%), covers 100.0% of PF14737, 81.5 bits

• function: Required for the assembly of axonemal inner and outer dynein arms (PubMed:34553759). Involved in the cytoplasmic preassembly of dyneins into complexes before their transport into cilia (PubMed:34553759). Essential for the development of axonemal dynein motors in the sensory cilium of mechanosensory chordotonal (Ch) neurons and sperm flagellum, and consequently, is required for the mechanotransduction process of hearing and sperm mobility (PubMed:34553759).
  disruption phenotype: Displays impaired motility of cilia/flagella (PubMed:34553759). Adult males are infertile due to immotile sperm with flagella that lack dynein arms and display axoneme disruption (PubMed:34553759). However, the testes appear normal in shape and contain elongating flagellar bundles of spermatids (PubMed:34553759). Larvae fail to react to tone stimulus due to defective auditory/vibration mechanotransduction (PubMed:34553759). RNAi-mediated knockdown in the sensory neurons of females results in uncoordinated locomotion during climbing (PubMed:34553759).
• The Drosophila orthologue of the primary ciliary dyskinesia-associated gene, DNAAF3, is required for axonemal dynein assembly
  Zur, Biology open 2021
  • “...PF22 from Chlamydomonas . Accession numbers for the proteins are: AEC04845 (for C. reinhardtii PF22), NP_611336 (for Drosophila melanogaster CG17669), XP_003201392 (for Danio rerio predicted DNAAF3), NP_001089839 (for Xenopus laevis MGC130955), NP_001028720 (for Mus musculus DNAAF3), NP_001243643 (for Homo sapiens DNAAF3, isoform 1). (BG) Expression of...”
• Quantitative proteomics and phosphoproteomics reveal insights into mechanisms of ocnus function in Drosophila testis development
  Zheng, BMC genomics 2023
  • “...motile cilium Q8T476 Rsph3 RSPH3 GO:0005929, cilium Q9VGG6 Dnali1 DNALI1 GO:0036126, sperm flagellum|GO:0031514, motile cilium A1ZB91 Dnaaf3 DNAAF3 GO:0044458, motile cilium assembly M9PCD3 CG8086 ODF3 GO:0007283, spermatogenesis O76922 aub PIWIL1 GO:0007283, spermatogenesis Q9VGB6 Pglym87 PGAM2 GO:0007283, spermatogenesis X2J6U8 ssp3 SCAPER GO:0007283, spermatogenesis Q9VH07 pont RUVBL1 GO:0007283,...”

XP_001025714 hypothetical protein from Tetrahymena thermophila SB210
Aligns to 12:109 / 556 (17.6%), covers 100.0% of PF14737, 81.4 bits

• Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia
  Mitchison, Nature genetics 2012
  • “...Danio rerio , zebrafish); XP_002938320 ( Xenopus tropicalis ); CAK83719 ( Paramecium tetrauralia ) and XP_001025714 ( Tetrahymena thermophila ). The Chlamydomonas reinhardtii protein sequence is newly reported here. Figure 3 Absence of outer dynein arms in respiratory epithelial cell cilia of PCD patients carrying DNAAF3...”

NP_001028720 dynein axonemal assembly factor 3 from Mus musculus
Aligns to 16:122 / 586 (18.3%), covers 100.0% of PF14737, 81.3 bits

• The Drosophila orthologue of the primary ciliary dyskinesia-associated gene, DNAAF3, is required for axonemal dynein assembly
  Zur, Biology open 2021
  • “...(for Drosophila melanogaster CG17669), XP_003201392 (for Danio rerio predicted DNAAF3), NP_001089839 (for Xenopus laevis MGC130955), NP_001028720 (for Mus musculus DNAAF3), NP_001243643 (for Homo sapiens DNAAF3, isoform 1). (BG) Expression of Dnaaf3-mVenus fusion gene. (B) Schematic representation of Ch neuron arrangement in an embryonic abdominal segment, with...”
• Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia
  Mitchison, Nature genetics 2012
  • “...red arrow. Protein sequences used for the multispecies alignment are NP_849159 ( Homo sapiens ); NP_001028720 ( Mus musculus ); XP_541416 ( Canis familiaris , dog); XP_001921018 ( Danio rerio , zebrafish); XP_002938320 ( Xenopus tropicalis ); CAK83719 ( Paramecium tetrauralia ) and XP_001025714 ( Tetrahymena...”

NP_001243643 dynein axonemal assembly factor 3 isoform 1 from Homo sapiens
Aligns to 63:190 / 608 (21.1%), covers 100.0% of PF14737, 78.2 bits

• The Drosophila orthologue of the primary ciliary dyskinesia-associated gene, DNAAF3, is required for axonemal dynein assembly
  Zur, Biology open 2021
  • “...(for Danio rerio predicted DNAAF3), NP_001089839 (for Xenopus laevis MGC130955), NP_001028720 (for Mus musculus DNAAF3), NP_001243643 (for Homo sapiens DNAAF3, isoform 1). (BG) Expression of Dnaaf3-mVenus fusion gene. (B) Schematic representation of Ch neuron arrangement in an embryonic abdominal segment, with clusters labelled. (C) Stage 16...”

XP_003054829 uncharacterized protein from Micromonas pusilla CCMP1545
Aligns to 11:133 / 552 (22.3%), covers 99.0% of PF14737, 63.2 bits

• Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia
  Mitchison, Nature genetics 2012
  • “...(kDa). Protein sequences used in the alignments (b, c) are AEC04845 ( Chlamydomonas reinhardtii ); XP_003054829 ( Micromonas pusilla , microalga); XP_814338 ( Trypanosoma cruzi , trypanosome); CAK83719 ( Paramecium tetraurelia , ciliate); ACI64850 ( Thalassiosira pseudonana , diatom); EGF76589 ( Batrachochytrium dendrobatidis , chytrid fungus);...”

XP_814338 hypothetical protein, conserved from Trypanosoma cruzi
Aligns to 80:184 / 557 (18.9%), covers 83.5% of PF14737, 45.9 bits

• Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia
  Mitchison, Nature genetics 2012
  • “...alignments (b, c) are AEC04845 ( Chlamydomonas reinhardtii ); XP_003054829 ( Micromonas pusilla , microalga); XP_814338 ( Trypanosoma cruzi , trypanosome); CAK83719 ( Paramecium tetraurelia , ciliate); ACI64850 ( Thalassiosira pseudonana , diatom); EGF76589 ( Batrachochytrium dendrobatidis , chytrid fungus); EGD81026 ( Salpingoeca sp., choanozoan); NP_849159...”

DAAF3_CHLRE / F5A894 Dynein axonemal assembly factor 3 homolog; Dynein assembly blocked protein 1; Paralyzed flagella protein 22 from Chlamydomonas reinhardtii (Chlamydomonas smithii) (see paper)
Aligns to 9:119 / 710 (15.6%), covers 100.0% of PF14737, 43.1 bits

• function: Required for the assembly of axonemal inner and outer dynein arms. Involved in preassembly of dyneins into complexes before their transport into cilia.
  disruption phenotype: Nonmotile flagella, with paralyzed half-length flagella and disrupted outer dynein arms assembly.

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