Human Gene DNAAF4 (ENST00000321149.7_9) from GENCODE V47lift37
  Description: dynein axonemal assembly factor 4, transcript variant 1 (from RefSeq NM_130810.4)
Gencode Transcript: ENST00000321149.7_9
Gencode Gene: ENSG00000256061.7_14
Transcript (Including UTRs)
   Position: hg19 chr15:55,722,506-55,800,432 Size: 77,927 Total Exon Count: 10 Strand: -
Coding Region
   Position: hg19 chr15:55,722,868-55,790,527 Size: 67,660 Coding Exon Count: 9 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsGene Alleles
RNA-Seq ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
Other NamesGeneReviewsModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr15:55,722,506-55,800,432)mRNA (may differ from genome)Protein (420 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: DYXC1_HUMAN
DESCRIPTION: RecName: Full=Dyslexia susceptibility 1 candidate gene 1 protein;
FUNCTION: Involved in neuronal migration during development of the cerebral neocortex. May regulate the stability and proteasomal degradation of the estrogen receptors that play an important role in neuronal differentiation, survival and plasticity.
SUBUNIT: Interacts with ESR1 and ESR2. Interacts with STUB1.
INTERACTION: O95166:GABARAP; NbExp=4; IntAct=EBI-2946907, EBI-712001; Q9H0R8:GABARAPL1; NbExp=2; IntAct=EBI-2946907, EBI-746969; P60520:GABARAPL2; NbExp=2; IntAct=EBI-2946907, EBI-720116; Q9BXW4:MAP1LC3C; NbExp=2; IntAct=EBI-2946907, EBI-2603996;
SUBCELLULAR LOCATION: Nucleus. Cytoplasm.
TISSUE SPECIFICITY: Expressed in several tissues, including brain, lung, kidney and testis. In brain localizes to a fraction of cortical neurons and white matter glial cells.
DISEASE: Defects in DYX1C1 may be a cause of susceptibility to dyslexia type 1 (DYX1) [MIM:127700]. A relatively common, complex cognitive disorder characterized by an impairment of reading performance despite adequate motivational, educational and intellectual opportunities. It is a multifactorial trait, with evidence for familial clustering and heritability. Note=A chromosomal aberration involving DYX1C1 has been found in a family affected by dyslexia. Translocation t(2;15)(q11;q21).
SIMILARITY: Contains 1 CS domain.
SIMILARITY: Contains 3 TPR repeats.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: DNAAF4
Diseases sorted by gene-association score: ciliary dyskinesia, primary, 25* (919), dyslexia 1* (594), primary ciliary dyskinesia 25: dnaaf4-related primary ciliary dyskinesia* (500), primary ciliary dyskinesia* (100), ciliary dyskinesia, primary, 1, with or without situs inversus* (78), dyslexia (42), reading disorder (12), specific developmental disorder (5), learning disability (5), kartagener syndrome (3)
* = Manually curated disease association

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 5.91 RPKM in Thyroid
Total median expression: 43.98 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -128.10368-0.348 Picture PostScript Text
3' UTR -63.80362-0.176 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR007052 - CS-like_domain
IPR017447 - CS_domain
IPR008978 - HSP20-like_chaperone
IPR001440 - TPR-1
IPR013026 - TPR-contain_dom
IPR011990 - TPR-like_helical
IPR019734 - TPR_repeat

Pfam Domains:
PF04969 - CS domain

SCOP Domains:
81901 - HCP-like
48439 - Protein prenylyltransferase
48452 - TPR-like
49764 - HSP20-like chaperones
56808 - Ribosomal protein L1

ModBase Predicted Comparative 3D Structure on Q8WXU2
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0030331 estrogen receptor binding

Biological Process:
GO:0001764 neuron migration
GO:0003341 cilium movement
GO:0007368 determination of left/right symmetry
GO:0007399 nervous system development
GO:0033146 regulation of intracellular estrogen receptor signaling pathway
GO:0036158 outer dynein arm assembly
GO:0036159 inner dynein arm assembly
GO:0061136 regulation of proteasomal protein catabolic process

Cellular Component:
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005813 centrosome
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0097730 non-motile cilium


-  Descriptions from all associated GenBank mRNAs
  BC051725 - Homo sapiens cDNA clone IMAGE:4837505, **** WARNING: chimeric clone ****.
AK295788 - Homo sapiens cDNA FLJ60574 complete cds, highly similar to Dyslexia susceptibility 1 candidate gene 1protein.
AK302316 - Homo sapiens cDNA FLJ54204 complete cds, highly similar to Dyslexia susceptibility 1 candidate gene 1protein.
BC062564 - Homo sapiens dyslexia susceptibility 1 candidate 1, mRNA (cDNA clone MGC:70618 IMAGE:5163101), complete cds.
KJ900342 - Synthetic construct Homo sapiens clone ccsbBroadEn_09736 DYX1C1 gene, encodes complete protein.
KU178882 - Homo sapiens dyslexia susceptibility 1 candidate 1 isoform 1 (DYX1C1) mRNA, partial cds.
KU178883 - Homo sapiens dyslexia susceptibility 1 candidate 1 isoform 2 (DYX1C1) mRNA, partial cds, alternatively spliced.
KU178884 - Homo sapiens dyslexia susceptibility 1 candidate 1 isoform 3 (DYX1C1) mRNA, complete cds, alternatively spliced.
BC017392 - Homo sapiens cDNA clone IMAGE:4081622, containing frame-shift errors.
AF337549 - Homo sapiens EKN1 (EKN1) mRNA, complete cds.
AK095201 - Homo sapiens cDNA FLJ37882 fis, clone BRSTN2000536.
JD437905 - Sequence 418929 from Patent EP1572962.
JD350301 - Sequence 331325 from Patent EP1572962.
JD312997 - Sequence 294021 from Patent EP1572962.
CU687560 - Synthetic construct Homo sapiens gateway clone IMAGE:100021725 5' read DYX1C1 mRNA.
JD464438 - Sequence 445462 from Patent EP1572962.
JD200669 - Sequence 181693 from Patent EP1572962.
JD173860 - Sequence 154884 from Patent EP1572962.
JD517013 - Sequence 498037 from Patent EP1572962.
JD525764 - Sequence 506788 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: DAAF4_HUMAN, DNAAF4 , DYX1C1, EKN1, ENST00000321149.1, ENST00000321149.2, ENST00000321149.3, ENST00000321149.4, ENST00000321149.5, ENST00000321149.6, NM_130810, Q6P5Y9, Q8N1S6, Q8WXU2, uc317qzv.1, uc317qzv.2
UCSC ID: ENST00000321149.7_9
RefSeq Accession: NM_130810.4
Protein: Q8WXU2 (aka DYXC1_HUMAN or DYX1_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene DNAAF4:
pcd (Primary Ciliary Dyskinesia)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.