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    DNAAF4 dynein axonemal assembly factor 4 [ Homo sapiens (human) ]

    Gene ID: 161582, updated on 22-Apr-2024

    Summary

    Official Symbol
    DNAAF4provided by HGNC
    Official Full Name
    dynein axonemal assembly factor 4provided by HGNC
    Primary source
    HGNC:HGNC:21493
    See related
    Ensembl:ENSG00000256061 MIM:608706; AllianceGenome:HGNC:21493
    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
    RD; DYX1; EKN1; pf23; DYXC1; CILD25; DYX1C1
    Summary
    This gene encodes a tetratricopeptide repeat domain-containing protein. The encoded protein interacts with estrogen receptors and the heat shock proteins, Hsp70 and Hsp90. An homologous protein in rat has been shown to function in neuronal migration in the developing neocortex. A chromosomal translocation involving this gene is associated with a susceptibility to developmental dyslexia. Mutations in this gene are associated with deficits in reading and spelling. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the downstream cell cycle progression 1 (CCPG1) gene. [provided by RefSeq, Mar 2011]
    Expression
    Broad expression in testis (RPKM 4.6), thyroid (RPKM 3.5) and 15 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See DNAAF4 in Genome Data Viewer
    Location:
    15q21.3
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (55417755..55508234, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (53220992..53311451, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (55709953..55800432, complement)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9443 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9444 Neighboring gene phosphatidylinositol glycan anchor biosynthesis class B Neighboring gene NANOG hESC enhancer GRCh37_chr15:55644998-55645641 Neighboring gene DNAAF4-CCPG1 readthrough (NMD candidate) Neighboring gene cell cycle progression 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:55674784-55674963 Neighboring gene microRNA 628 Neighboring gene Sharpr-MPRA regulatory region 6559 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9445 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9446 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9447 Neighboring gene piercer of microtubule wall 2 Neighboring gene thioesterase superfamily member 4 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9448 Neighboring gene uncharacterized mitochondrial protein AtMg00860-like Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6454 Neighboring gene pygopus family PHD finger 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6455 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6456 Neighboring gene uncharacterized LOC124903497

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Readthrough DNAAF4-CCPG1

    Readthrough gene: DNAAF4-CCPG1, Included gene: CCPG1

    Clone Names

    • FLJ37882, MGC70618

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables nuclear estrogen receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables nuclear estrogen receptor binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in cilium movement IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in determination of left/right symmetry IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in determination of left/right symmetry IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in epithelial cilium movement involved in extracellular fluid movement IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in establishment of localization in cell IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in heart development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in inner dynein arm assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in inner dynein arm assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in learning or memory IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in neuron migration ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in outer dynein arm assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in outer dynein arm assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of intracellular estrogen receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of proteasomal protein catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in centrosome IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in dynein axonemal particle ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
     
    located_in neuron projection IEA
    Inferred from Electronic Annotation
    more info
     
    located_in non-motile cilium IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
     

    General protein information

    Preferred Names
    dynein axonemal assembly factor 4
    Names
    dynein assembly factor 4, axonemal
    dyslexia susceptibility 1 candidate 1
    dyslexia susceptibility 1 candidate gene 1 protein

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_021213.1 RefSeqGene

      Range
      5001..82927
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001033559.3NP_001028731.1  dynein axonemal assembly factor 4 isoform b

      See identical proteins and their annotated locations for NP_001028731.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate exon that causes a frameshift in the 3' coding region, compared to variant 1. The encoded isoform (b) has a distinct and shorter C-terminus, compared to isoform a.
      Source sequence(s)
      AF337549, AK095201, BC017392
      Consensus CDS
      CCDS32244.1
      UniProtKB/Swiss-Prot
      Q8WXU2
      Related
      ENSP00000402640.2, ENST00000457155.6
      Conserved Domains (3) summary
      cd06469
      Location:1087
      p23_DYX1C1_like; p23_like domain found in proteins similar to dyslexia susceptibility 1 (DYX1) candidate 1 (C1) protein, DYX1C1. The human gene encoding this protein is a positional candidate gene for developmental dyslexia (DD), it is located on 15q21.3 by the DYX1 DD ...
      sd00006
      Location:290318
      TPR; TPR repeat [structural motif]
      pfam13414
      Location:289353
      TPR_11; TPR repeat
    2. NM_001033560.2NP_001028732.1  dynein axonemal assembly factor 4 isoform c

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (c) has a distinct and shorter C-terminus, compared to isoform a.
      Source sequence(s)
      AF337549, AK095201, BC062564, BM971229
      Consensus CDS
      CCDS32243.1
      UniProtKB/TrEMBL
      A0A0S2Z5Z4
      Related
      ENSP00000403412.2, ENST00000448430.6
      Conserved Domains (3) summary
      cd06469
      Location:1087
      p23_DYX1C1_like; p23_like domain found in proteins similar to dyslexia susceptibility 1 (DYX1) candidate 1 (C1) protein, DYX1C1. The human gene encoding this protein is a positional candidate gene for developmental dyslexia (DD), it is located on 15q21.3 by the DYX1 DD ...
      sd00006
      Location:290318
      TPR; TPR repeat [structural motif]
      pfam13414
      Location:289349
      TPR_11; TPR repeat
    3. NM_130810.4NP_570722.2  dynein axonemal assembly factor 4 isoform a

      See identical proteins and their annotated locations for NP_570722.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
      Source sequence(s)
      AF337549, AK095201, BC017392
      Consensus CDS
      CCDS10154.1
      UniProtKB/Swiss-Prot
      Q6P5Y9, Q8N1S6, Q8WXU2
      Related
      ENSP00000323275.3, ENST00000321149.7
      Conserved Domains (4) summary
      cd06469
      Location:1087
      p23_DYX1C1_like; p23_like domain found in proteins similar to dyslexia susceptibility 1 (DYX1) candidate 1 (C1) protein, DYX1C1. The human gene encoding this protein is a positional candidate gene for developmental dyslexia (DD), it is located on 15q21.3 by the DYX1 DD ...
      sd00006
      Location:290318
      TPR; TPR repeat [structural motif]
      pfam00515
      Location:367399
      TPR_1; Tetratricopeptide repeat
      pfam13414
      Location:289353
      TPR_11; TPR 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_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      55417755..55508234 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      53220992..53311451 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)