DNAAF4 Gene Summary [Human]

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]

Details

Type
Nonsense Mediated Decay
Official Symbol
DNAAF4
Official Name
dynein axonemal assembly factor 4 [Source:HGNC Symbol;Acc:HGNC:21493]
Ensembl ID
ENSG00000256061
Bio databases IDs NCBI: 161582 Ensembl: ENSG00000256061
Aliases dynein axonemal assembly factor 4, dynein, axonemal, assembly factor 4
Synonyms 1700010I24RIK, b2b811.1Clo, b2b811Clo, CILD25, dynein axonemal assembly factor 4, DYX1, DYX1C1, DYXC1, Edem2, EKN1, pf23, RD
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human DNAAF4 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • CS domain
  • TPR repeat
  • alpha-crystallin Hsps/p23-like
  • Tetratricopeptide repeats
  • protein binding
  • estrogen receptor binding
  • tetratricopeptide repeat

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • primary ciliary dyskinesia
  • primary ciliary dyskinesia type 25
  • dextrocardia
  • congenital heart disease
  • susceptibility to dyslexia type 1
  • hydrocephalus
  • situs inversus
  • situs inversus totalis
  • situs ambiguus
  • hearing loss
regulates
  • Axonemal Dynein Inner Arm
  • Axonemal Dynein Outer Arm
role in cell
  • migration
  • movement

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Nucleus
  • non-motile cilium
  • organelle
  • Cytoplasm
  • cilia
  • Plasma Membrane
  • centrosome
  • cytosol

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human DNAAF4 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • heart development
  • neuron migration
  • regulation of proteasomal protein catabolic process
  • outer dynein arm assembly
  • epithelial cilium movement
  • regulation of intracellular estrogen receptor signaling pathway
  • cilium movement
  • establishment of localization in cell
  • inner dynein arm assembly
  • determination of left/right symmetry
  • learning or memory

Cellular Component

Where in the cell the gene product is active
  • nucleus
  • centrosome
  • cytoplasm
  • cytosol
  • extracellular region
  • neuron projection
  • plasma membrane

Molecular Function

What the gene product does at the molecular level
  • protein binding
  • estrogen receptor binding

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.