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

Gene ID: 161582, updated on 23-Nov-2021

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
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; 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
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Genomic context

See DNAAF4 in Genome Data Viewer
Location:
15q21.3
Exon count:
11
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 15 NC_000015.10 (55417755..55508234, complement)
105.20201022 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 DNAAF4-CCPG1 readthrough (NMD candidate) Neighboring gene cell cycle progression 1 Neighboring gene Sharpr-MPRA regulatory region 6559 Neighboring gene microRNA 628 Neighboring gene chromosome 15 open reading frame 65 Neighboring gene thioesterase superfamily member 4 pseudogene Neighboring gene pygopus family PHD finger 1 Neighboring gene protogenin

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

Homology

Clone Names

  • FLJ37882, MGC70618

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables estrogen receptor binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables 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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
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
PubMed 
involved_in heart development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in inner dynein arm assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in inner dynein arm assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
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
PubMed 
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)

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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_021213.1 RefSeqGene

    Range
    5001..95480
    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/Swiss-Prot
    Q8WXU2
    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
    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: Homo sapiens Updated Annotation Release 109.20211119

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p13 Primary Assembly

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