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    DNAAF1 dynein axonemal assembly factor 1 [ Homo sapiens (human) ]

    Gene ID: 123872, updated on 27-Nov-2024

    Summary

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    Official Symbol
    DNAAF1provided by HGNC
    Official Full Name
    dynein axonemal assembly factor 1provided by HGNC
    Primary source
    HGNC:HGNC:30539
    See related
    Ensembl:ENSG00000154099 MIM:613190; AllianceGenome:HGNC:30539
    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
    swt; DAU1; ODA7; CILD13; LRRC50
    Summary
    The protein encoded by this gene is cilium-specific and is required for the stability of the ciliary architecture. It is involved in the regulation of microtubule-based cilia and actin-based brush border microvilli. Mutations in this gene are associated with primary ciliary dyskinesia-13. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
    Expression
    Broad expression in testis (RPKM 17.0), lung (RPKM 5.3) and 20 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See DNAAF1 in Genome Data Viewer
    Location:
    16q24.1
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (84145308..84177920)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (90211391..90243993)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (84178913..84211526)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene polo like kinase 1 pseudogene Neighboring gene hydroxysteroid dehydrogenase like 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:84169151-84169748 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:84170943-84171538 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7778 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7779 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7780 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:84220503-84221003 Neighboring gene TATA-box binding protein associated factor, RNA polymerase I subunit C Neighboring gene Sharpr-MPRA regulatory region 3417 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:84227912-84229111 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:84229267-84229889 Neighboring gene splicing factor proline/glutamine-rich Neighboring gene adenosine deaminase domain containing 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:84247937-84248438 Neighboring gene potassium voltage-gated channel modifier subfamily G member 4

    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. Altered Dynein Axonemal Assembly Factor 1 Expression in C-Boutons in Bulbar and Spinal Cord Motor-Neurons in Sporadic Amyotrophic Lateral Sclerosis. Andrés-Benito P, et al. J Neuropathol Exp Neurol, 2019 May 1. PMID 30939186
    2. Rare disruptive mutations in ciliary function genes contribute to testicular cancer susceptibility. Litchfield K, et al. Nat Commun, 2016 Dec 20. PMID 27996046, Free PMC Article
    3. Mutations in the Motile Cilia Gene DNAAF1 Are Associated with Neural Tube Defects in Humans. Miao C, et al. G3 (Bethesda), 2016 Oct 13. PMID 27543293, Free PMC Article
    4. Loss-of-function mutations in the human ortholog of Chlamydomonas reinhardtii ODA7 disrupt dynein arm assembly and cause primary ciliary dyskinesia. Duquesnoy P, et al. Am J Hum Genet, 2009 Dec. PMID 19944405, Free PMC Article
    5. DNAAF1 links heart laterality with the AAA+ ATPase RUVBL1 and ciliary intraflagellar transport. Hartill VL, et al. Hum Mol Genet, 2018 Feb 1. PMID 29228333, Free PMC Article

    See all (22) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. DNAAF1 mRNA expression is significantly reduced in the anterior horn in sporadic amyotrophic lateral sclerosis patients.
      Title: Altered Dynein Axonemal Assembly Factor 1 Expression in C-Boutons in Bulbar and Spinal Cord Motor-Neurons in Sporadic Amyotrophic Lateral Sclerosis.
    2. DNAAF1 links heart laterality with the AAA+ ATPase RUVBL1 and ciliary intraflagellar transport
      Title: DNAAF1 links heart laterality with the AAA+ ATPase RUVBL1 and ciliary intraflagellar transport.
    3. The most significantly mutated cilia-microtubule gene in testicular germ cell tumors is DNAAF1 with biallelic inactivation and loss of DNAAF1 expression shown in tumors from carriers.
      Title: Rare disruptive mutations in ciliary function genes contribute to testicular cancer susceptibility.
    4. our findings here demonstrate that mutations in the motile cilia gene DNAAF1 could contribute to the pathogenesis of NTDs.
      Title: Mutations in the Motile Cilia Gene DNAAF1 Are Associated with Neural Tube Defects in Humans.
    5. LRRC50, a member of the leucine-rich-repeat superfamily, has a key role in cytoplasmic preassembly of dynein arms
      Title: Loss-of-function mutations in the human ortholog of Chlamydomonas reinhardtii ODA7 disrupt dynein arm assembly and cause primary ciliary dyskinesia.
    6. LRRC50 plays a role in assembly of distinct dynein-arm complexes
      Title: Deletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defects.
    7. It is proposed that LRRC50 to be a novel candidate gene for human cystic kidney disease, involved in regulation of microtubule-based cilia and actin-based brush border microvilli
      Title: LRRC50, a conserved ciliary protein implicated in polycystic kidney disease.
    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 13
    MedGen: C2750790 OMIM: 613193 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

    Homology

    Clone Names

    • FLJ25330, DKFZp434A119

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables dynein complex binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables dynein complex binding IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in axonemal dynein complex assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in axoneme assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cilium movement IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in determination of digestive tract left/right asymmetry IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in determination of liver left/right asymmetry IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in determination of pancreatic left/right asymmetry IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in epithelial cilium movement involved in determination of left/right asymmetry IC
    Inferred by Curator
    more info
    		 PubMed 
    involved_in heart looping IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in inner dynein arm assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in left/right pattern formation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in lung development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in motile cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in outer dynein arm assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of cilium beat frequency IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in axoneme IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in axoneme IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasm NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nuclear speck IDA
    Inferred from Direct Assay
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		  
    located_in spindle pole IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    dynein axonemal assembly factor 1
    Names
    dynein assembly factor 1, axonemal
    leucine-rich repeat-containing protein 50
    outer row dynein assembly 7 homolog
    testicular tissue protein Li 110

    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_021174.2 RefSeqGene

      Range
      5002..37612
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001318756.1 → NP_001305685.1  dynein axonemal assembly factor 1 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region and uses a downstream start codon, compared to variant 1. It encodes isoform 2, which is shorter at the N-terminus, compared to isoform 1.
      Source sequence(s)
      AA994895, AK295990, AL833327, HY196988, HY223243, N47170
      UniProtKB/Swiss-Prot
      Q8NEP3
      Related
      ENST00000563818.5
      Conserved Domains (1) summary
      PHA03169
      Location:50 → 256
      PHA03169; hypothetical protein; Provisional

    2. NM_178452.6 → NP_848547.4  dynein axonemal assembly factor 1 isoform 1

      See identical proteins and their annotated locations for NP_848547.4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AA994895, AK295990, AL833327, BC024009, DA349893, HY196988, HY223243, N47170
      Consensus CDS
      CCDS10943.2
      UniProtKB/Swiss-Prot
      B4DJA3, Q69YI8, Q69YJ0, Q69YW5, Q8NEP3, Q96LP3, Q96MB6
      UniProtKB/TrEMBL
      A0A140VJN4
      Related
      ENSP00000367815.5, ENST00000378553.10
      Conserved Domains (3) summary
      sd00033
      Location:111 → 130
      LRR_RI; leucine-rich repeat [structural motif]
      pfam12799
      Location:151 → 192
      LRR_4; Leucine Rich repeats (2 copies)
      pfam13855
      Location:151 → 207
      LRR_8; Leucine rich repeat

    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_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      84145308..84177920
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011522854.4 → XP_011521156.1  dynein axonemal assembly factor 1 isoform X3

      Conserved Domains (3) summary
      sd00033
      Location:111 → 130
      LRR_RI; leucine-rich repeat [structural motif]
      pfam12799
      Location:151 → 192
      LRR_4; Leucine Rich repeats (2 copies)
      pfam13855
      Location:151 → 207
      LRR_8; Leucine rich repeat

    2. XM_011522853.4 → XP_011521155.1  dynein axonemal assembly factor 1 isoform X1

      Conserved Domains (3) summary
      sd00033
      Location:111 → 130
      LRR_RI; leucine-rich repeat [structural motif]
      pfam12799
      Location:151 → 192
      LRR_4; Leucine Rich repeats (2 copies)
      pfam13855
      Location:151 → 207
      LRR_8; Leucine rich repeat

    3. XM_011522855.4 → XP_011521157.1  dynein axonemal assembly factor 1 isoform X4

      Conserved Domains (3) summary
      sd00033
      Location:111 → 130
      LRR_RI; leucine-rich repeat [structural motif]
      pfam12799
      Location:151 → 192
      LRR_4; Leucine Rich repeats (2 copies)
      pfam13855
      Location:151 → 207
      LRR_8; Leucine rich repeat

    4. XM_006721129.4 → XP_006721192.1  dynein axonemal assembly factor 1 isoform X5

      Conserved Domains (3) summary
      sd00033
      Location:111 → 130
      LRR_RI; leucine-rich repeat [structural motif]
      pfam12799
      Location:151 → 192
      LRR_4; Leucine Rich repeats (2 copies)
      pfam13855
      Location:151 → 207
      LRR_8; Leucine rich repeat

    5. XM_017022918.3 → XP_016878407.1  dynein axonemal assembly factor 1 isoform X2

    6. XM_047433589.1 → XP_047289545.1  dynein axonemal assembly factor 1 isoform X6

    7. XM_047433590.1 → XP_047289546.1  dynein axonemal assembly factor 1 isoform X7

    8. XM_011522857.4 → XP_011521159.1  dynein axonemal assembly factor 1 isoform X8

      Conserved Domains (3) summary
      sd00033
      Location:111 → 130
      LRR_RI; leucine-rich repeat [structural motif]
      pfam12799
      Location:151 → 192
      LRR_4; Leucine Rich repeats (2 copies)
      pfam13855
      Location:151 → 207
      LRR_8; Leucine rich repeat

    9. XM_011522858.4 → XP_011521160.1  dynein axonemal assembly factor 1 isoform X9

      Conserved Domains (4) summary
      PHA03169
      Location:302 → 508
      PHA03169; hypothetical protein; Provisional
      sd00033
      Location:111 → 130
      LRR_RI; leucine-rich repeat [structural motif]
      pfam12799
      Location:151 → 192
      LRR_4; Leucine Rich repeats (2 copies)
      pfam13855
      Location:151 → 207
      LRR_8; Leucine rich repeat

    10. XM_017022919.2 → XP_016878408.1  dynein axonemal assembly factor 1 isoform X10

    11. XM_017022920.3 → XP_016878409.1  dynein axonemal assembly factor 1 isoform X11

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      90211391..90243993
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054379544.1 → XP_054235519.1  dynein axonemal assembly factor 1 isoform X3

    2. XM_054379542.1 → XP_054235517.1  dynein axonemal assembly factor 1 isoform X1

    3. XM_054379545.1 → XP_054235520.1  dynein axonemal assembly factor 1 isoform X4

    4. XM_054379546.1 → XP_054235521.1  dynein axonemal assembly factor 1 isoform X5

    5. XM_054379543.1 → XP_054235518.1  dynein axonemal assembly factor 1 isoform X2

    6. XM_054379547.1 → XP_054235522.1  dynein axonemal assembly factor 1 isoform X6

    7. XM_054379548.1 → XP_054235523.1  dynein axonemal assembly factor 1 isoform X7

    8. XM_054379549.1 → XP_054235524.1  dynein axonemal assembly factor 1 isoform X8

    9. XM_054379550.1 → XP_054235525.1  dynein axonemal assembly factor 1 isoform X9

    10. XM_054379551.1 → XP_054235526.1  dynein axonemal assembly factor 1 isoform X10

    11. XM_054379552.1 → XP_054235527.1  dynein axonemal assembly factor 1 isoform X11

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8NEP3.5 GenPept UniProtKB/Swiss-Prot:Q8NEP3

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