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Aliases for DYX1C1 Gene

Aliases for DYX1C1 Gene

  • Dyslexia Susceptibility 1 Candidate 1 2 3 5
  • Dynein, Axonemal, Assembly Factor 4 2 3
  • EKN1 3 4
  • Dyslexia Susceptibility 1 Candidate Gene 1 Protein 3
  • CILD25 3
  • DNAAF4 3
  • DYXC1 3
  • DYX1 3
  • RD 3

External Ids for DYX1C1 Gene

Previous GeneCards Identifiers for DYX1C1 Gene

  • GC00U912963
  • GC15M053438
  • GC15M053509
  • GC15M053434
  • GC15M053497
  • GC15M055709
  • GC15M032535
  • GC15M055648
  • GC15M055670

Summaries for DYX1C1 Gene

Entrez Gene Summary for DYX1C1 Gene

  • 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]

GeneCards Summary for DYX1C1 Gene

DYX1C1 (Dyslexia Susceptibility 1 Candidate 1) is a Protein Coding gene. Diseases associated with DYX1C1 include Ciliary Dyskinesia, Primary, 25 and Dyslexia 1. GO annotations related to this gene include estrogen receptor binding.

UniProtKB/Swiss-Prot for DYX1C1 Gene

  • 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. Axonemal dynein assembly factor required for ciliary motility.

Gene Wiki entry for DYX1C1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DYX1C1 Gene

Genomics for DYX1C1 Gene

Regulatory Elements for DYX1C1 Gene

Enhancers for DYX1C1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH15F055401 0.4 ENCODE 11.3 +102.7 102675 7.7 HDGF PKNOX1 CREB3L1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ZNF207 RSL24D1 PYGO1 DYX1C1 C15orf65 PIGB CCPG1 MIR628 GC15M055985
GH15F055288 1.3 FANTOM5 ENCODE 9.2 +218.6 218597 3.1 HDGF ATF1 PKNOX1 CREB3L1 ARID4B SIN3A DMAP1 SLC30A9 GLIS2 ZNF143 RAB27A PIGB DYX1C1 CCPG1 ENSG00000276533 PIR62136
GH15F055394 1.1 Ensembl ENCODE 7.3 +113.4 113434 1.6 CEBPB TRIM24 ZNF843 C15orf65 DYX1C1 PIGB CCPG1 GC15M055985 GC15M055482
GH15F055497 0.2 ENCODE 6.7 +9.8 9800 1.4 ARID4B SIN3A DMAP1 ZNF48 ZNF2 YY1 GTF3C2 ZNF143 MXD4 ZNF518A RSL24D1 PYGO1 C15orf65 PIGB DYX1C1 DYX1C1-CCPG1 LOC100420711
GH15F055494 1.1 Ensembl ENCODE 6.6 +12.9 12934 1.4 RSL24D1 C15orf65 RAB27A DYX1C1 DYX1C1-CCPG1 LOC100420711
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around DYX1C1 on UCSC Golden Path with GeneCards custom track

Genomic Location for DYX1C1 Gene

Chromosome:
15
Start:
55,410,525 bp from pter
End:
55,508,234 bp from pter
Size:
97,710 bases
Orientation:
Minus strand

Genomic View for DYX1C1 Gene

Genes around DYX1C1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DYX1C1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DYX1C1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DYX1C1 Gene

Proteins for DYX1C1 Gene

  • Protein details for DYX1C1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8WXU2-DYXC1_HUMAN
    Recommended name:
    Dyslexia susceptibility 1 candidate gene 1 protein
    Protein Accession:
    Q8WXU2
    Secondary Accessions:
    • Q6P5Y9
    • Q8N1S6

    Protein attributes for DYX1C1 Gene

    Size:
    420 amino acids
    Molecular mass:
    48527 Da
    Quaternary structure:
    • Interacts with ESR1 and ESR2. Interacts with STUB1. Interacts with DNAAF2. Interacts with CCT3, CCT4, CCT5 and CCT8 (By similarity).

    Alternative splice isoforms for DYX1C1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DYX1C1 Gene

Post-translational modifications for DYX1C1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for DYX1C1 Gene

No data available for DME Specific Peptides for DYX1C1 Gene

Domains & Families for DYX1C1 Gene

Gene Families for DYX1C1 Gene

Graphical View of Domain Structure for InterPro Entry

Q8WXU2

UniProtKB/Swiss-Prot:

DYXC1_HUMAN :
  • Contains 1 CS domain.
  • Contains 3 TPR repeats.
Domain:
  • Contains 1 CS domain.
Similarity:
  • Contains 3 TPR repeats.
genes like me logo Genes that share domains with DYX1C1: view

Function for DYX1C1 Gene

Molecular function for DYX1C1 Gene

UniProtKB/Swiss-Prot 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. Axonemal dynein assembly factor required for ciliary motility.

Gene Ontology (GO) - Molecular Function for DYX1C1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 19423554
GO:0030331 estrogen receptor binding IDA 19423554
genes like me logo Genes that share ontologies with DYX1C1: view
genes like me logo Genes that share phenotypes with DYX1C1: view

Human Phenotype Ontology for DYX1C1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for DYX1C1 Gene

MGI Knock Outs for DYX1C1:

Animal Model Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targets and HOMER Transcription for DYX1C1 Gene

Localization for DYX1C1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DYX1C1 Gene

Nucleus. Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for DYX1C1 Gene COMPARTMENTS Subcellular localization image for DYX1C1 gene
Compartment Confidence
nucleus 5
plasma membrane 4
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for DYX1C1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 16989952
GO:0005737 cytoplasm IEA,IDA 16989952
GO:0005813 centrosome IEA --
GO:0005886 plasma membrane IDA --
GO:0097730 non-motile cilium IEA --
genes like me logo Genes that share ontologies with DYX1C1: view

Pathways & Interactions for DYX1C1 Gene

SuperPathways for DYX1C1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for DYX1C1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001764 neuron migration ISS --
GO:0003341 cilium movement IMP 23872636
GO:0007368 determination of left/right symmetry IMP 23872636
GO:0007399 nervous system development IEA --
GO:0033146 regulation of intracellular estrogen receptor signaling pathway IDA 19423554
genes like me logo Genes that share ontologies with DYX1C1: view

No data available for Pathways by source and SIGNOR curated interactions for DYX1C1 Gene

Transcripts for DYX1C1 Gene

Unigene Clusters for DYX1C1 Gene

Dyslexia susceptibility 1 candidate 1:
Representative Sequences:

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for DYX1C1 Gene

No ASD Table

Relevant External Links for DYX1C1 Gene

GeneLoc Exon Structure for
DYX1C1
ECgene alternative splicing isoforms for
DYX1C1

Expression for DYX1C1 Gene

mRNA expression in normal human tissues for DYX1C1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for DYX1C1 Gene

This gene is overexpressed in Thyroid (x5.9) and Testis (x4.1).

Protein differential expression in normal tissues from HIPED for DYX1C1 Gene

This gene is overexpressed in Plasma (45.7) and Pancreatic juice (19.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for DYX1C1 Gene



Protein tissue co-expression partners for DYX1C1 Gene

NURSA nuclear receptor signaling pathways regulating expression of DYX1C1 Gene:

DYX1C1

SOURCE GeneReport for Unigene cluster for DYX1C1 Gene:

Hs.126403

mRNA Expression by UniProt/SwissProt for DYX1C1 Gene:

Q8WXU2-DYXC1_HUMAN
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.
genes like me logo Genes that share expression patterns with DYX1C1: view

Primer Products

Orthologs for DYX1C1 Gene

This gene was present in the common ancestor of animals.

Orthologs for DYX1C1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DYX1C1 34 35
  • 99.52 (n)
cow
(Bos Taurus)
Mammalia DYX1C1 34 35
  • 90.32 (n)
dog
(Canis familiaris)
Mammalia DYX1C1 34 35
  • 90.21 (n)
mouse
(Mus musculus)
Mammalia Dyx1c1 34 16 35
  • 80.22 (n)
Gm20510 35
  • 78 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Dyx1c1 34
  • 80.14 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia DYX1C1 35
  • 73 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia DYX1C1 35
  • 66 (a)
OneToOne
chicken
(Gallus gallus)
Aves DYX1C1 34 35
  • 70.35 (n)
lizard
(Anolis carolinensis)
Reptilia DYX1C1 35
  • 44 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dyx1c1 34
  • 62.99 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.15925 34
zebrafish
(Danio rerio)
Actinopterygii dyx1c1 34 35
  • 60.13 (n)
Dr.15037 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1735 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001727 34
  • 43.4 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 45 (a)
OneToOne
Species where no ortholog for DYX1C1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for DYX1C1 Gene

ENSEMBL:
Gene Tree for DYX1C1 (if available)
TreeFam:
Gene Tree for DYX1C1 (if available)

Paralogs for DYX1C1 Gene

No data available for Paralogs for DYX1C1 Gene

Variants for DYX1C1 Gene

Sequence variations from dbSNP and Humsavar for DYX1C1 Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type
rs397515621 Pathogenic 55,439,557(-) AGGCA(C/T)GAAGA nc-transcript-variant, reference, stop-gained
rs397515622 Pathogenic 55,491,203(-) CACAA(G/T)AGAGA nc-transcript-variant, reference, stop-gained
rs748763190 Uncertain significance 55,439,467(+) AACAA(C/T)TTACT intron-variant
rs57914590 Benign 55,491,144(+) AGTGC(A/G/T)TATTT nc-transcript-variant, reference, synonymous-codon, stop-gained
rs600753 Benign 55,466,995(+) TTCTT(C/T)CTTCT nc-transcript-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for DYX1C1 Gene

Variant ID Type Subtype PubMed ID
esv2761899 CNV gain+loss 21179565
esv3365892 CNV insertion 20981092
esv3569609 CNV gain 25503493
esv3636564 CNV loss 21293372
esv3636565 CNV loss 21293372
esv3892697 CNV loss 25118596
nsv1043789 CNV gain 25217958
nsv1113713 CNV deletion 24896259
nsv1542 CNV insertion 18451855
nsv520799 CNV loss 19592680
nsv569523 CNV gain 21841781
nsv569539 CNV loss 21841781
nsv817693 CNV loss 17921354
nsv833016 CNV gain 17160897
nsv951964 CNV deletion 24416366
nsv984074 CNV duplication 23825009

Variation tolerance for DYX1C1 Gene

Residual Variation Intolerance Score: 83.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.87; 89.70% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DYX1C1 Gene

Human Gene Mutation Database (HGMD)
DYX1C1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DYX1C1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DYX1C1 Gene

Disorders for DYX1C1 Gene

MalaCards: The human disease database

(11) MalaCards diseases for DYX1C1 Gene - From: OMIM, ClinVar, GeneTests, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
ciliary dyskinesia, primary, 25
  • primary ciliary dyskinesia 25
dyslexia 1
  • congenital word-blindness
ciliary dyskinesia, primary, 1, with or without situs inversus
  • primary ciliary dyskinesia 1
primary ciliary dyskinesia25: dyx1c1-related primary ciliary dyskinesia
  • ciliary dyskinesia, primary, 25
primary ciliary dyskinesia
  • ciliary motility disorder
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

DYXC1_HUMAN
  • Ciliary dyskinesia, primary, 25 (CILD25) [MIM:615482]: A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. Patients may exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. {ECO:0000269 PubMed:23872636, ECO:0000269 PubMed:25186273}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Dyslexia 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=Disease susceptibility is associated with variations affecting the gene represented in this entry. A chromosomal aberration involving DYX1C1 has been found in a family affected by dyslexia. Translocation t(2;15)(q11;q21).

Relevant External Links for DYX1C1

Genetic Association Database (GAD)
DYX1C1
Human Genome Epidemiology (HuGE) Navigator
DYX1C1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DYX1C1
genes like me logo Genes that share disorders with DYX1C1: view

No data available for Genatlas for DYX1C1 Gene

Publications for DYX1C1 Gene

  1. A candidate gene for developmental dyslexia encodes a nuclear tetratricopeptide repeat domain protein dynamically regulated in brain. (PMID: 12954984) Taipale M. … Kere J. (Proc. Natl. Acad. Sci. U.S.A. 2003) 2 3 4 22 64
  2. DYX1C1 is required for axonemal dynein assembly and ciliary motility. (PMID: 23872636) Tarkar A. … Omran H. (Nat. Genet. 2013) 2 3 4 64
  3. Dyslexia and DYX1C1: deficits in reading and spelling associated with a missense mutation. (PMID: 19901951) Bates T.C. … Wright M.J. (Mol. Psychiatry 2010) 3 46 64
  4. A common variant in DRD3 receptor is associated with autism spectrum disorder. (PMID: 19058789) de Krom M. … van Ree J.M. (Biol. Psychiatry 2009) 3 46 64
  5. Functional interaction of DYX1C1 with estrogen receptors suggests involvement of hormonal pathways in dyslexia. (PMID: 19423554) Massinen S. … Kere J. (Hum. Mol. Genet. 2009) 3 4 64

Products for DYX1C1 Gene

Sources for DYX1C1 Gene

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