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

Gene ID: 123872, updated on 5-Mar-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
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (84145308..84177920)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (90211391..90243993)
105.20220307 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 (20) 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
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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

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_2023_10

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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