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Aliases for DYX1C1 Gene

Aliases for DYX1C1 Gene

  • Dyslexia Susceptibility 1 Candidate 1 2 3
  • CILD25 3 6
  • DYXC1 3 6
  • DYX1 3 6
  • EKN1 3 4
  • Dyslexia Susceptibility 1 Candidate Gene 1 Protein 3
  • Dynein, Axonemal, Assembly Factor 4 3
  • Assembly Factor 4 2
  • Axonemal 2
  • Dynein 2
  • DNAAF4 3
  • RD 3

External Ids for DYX1C1 Gene

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

Genomic Location for DYX1C1 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for DYX1C1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DYX1C1 Gene

Regulatory Elements 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

Proteomics data for DYX1C1 Gene at MOPED

Post-translational modifications for DYX1C1 Gene

No Post-translational modifications

Other Protein References for DYX1C1 Gene

No data available for DME Specific Peptides for DYX1C1 Gene

Domains for DYX1C1 Gene

Gene Families for DYX1C1 Gene

HGNC:
  • TTC :Tetratricopeptide (TTC) repeat domain containing

Protein Domains for DYX1C1 Gene

UniProtKB/Swiss-Prot:

DYXC1_HUMAN
Domain:
  • Contains 1 CS domain.:
    • Q8WXU2
Similarity:
  • Contains 3 TPR repeats.:
    • Q8WXU2
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

Animal Models for DYX1C1 Gene

MGI Knock Outs for DYX1C1:

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting 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
cytosol 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for DYX1C1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 16989952
GO:0005737 cytoplasm IDA --
GO:0005886 plasma membrane IDA --
genes like me logo Genes that share ontologies with DYX1C1: view

Pathways 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:0033146 regulation of intracellular estrogen receptor signaling pathway IDA 19423554
GO:0036158 outer dynein arm assembly IMP 23872636
genes like me logo Genes that share ontologies with DYX1C1: view

No data available for Pathways by source for DYX1C1 Gene

Transcripts for DYX1C1 Gene

Unigene Clusters for DYX1C1 Gene

Dyslexia susceptibility 1 candidate 1:
Representative Sequences:

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 (5.9) and Testis (4.1).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for DYX1C1 Gene

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 expressions with DYX1C1: view

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 36
  • 99.52 (n)
  • 99.52 (a)
DYX1C1 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia DYX1C1 36
  • 90.32 (n)
  • 88.1 (a)
DYX1C1 37
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DYX1C1 36
  • 90.21 (n)
  • 88.07 (a)
DYX1C1 37
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Dyx1c1 36
  • 80.22 (n)
  • 79.67 (a)
Dyx1c1 16
Dyx1c1 37
  • 79 (a)
OneToMany
Gm20510 37
  • 78 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia DYX1C1 37
  • 66 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DYX1C1 37
  • 73 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Dyx1c1 36
  • 80.14 (n)
  • 80.62 (a)
chicken
(Gallus gallus)
Aves DYX1C1 36
  • 70.35 (n)
  • 66.11 (a)
DYX1C1 37
  • 64 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DYX1C1 37
  • 44 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.15925 36
tropical clawed frog
(Silurana tropicalis)
Amphibia dyx1c1 36
  • 62.99 (n)
  • 61.03 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1735 36
zebrafish
(Danio rerio)
Actinopterygii Dr.15037 36
dyx1c1 36
  • 60.13 (n)
  • 56.37 (a)
dyx1c1 37
  • 54 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001727 36
  • 43.4 (n)
  • 34.9 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 45 (a)
OneToOne
Species with no ortholog for DYX1C1:
  • 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 MAF
rs16787 -- 55,508,639(-) CCTAT(A/C)GGGCC upstream-variant-2KB
rs4774773 -- 55,501,139(+) gctca(C/T)tgcaa intron-variant
rs4774774 -- 55,501,140(+) ctcac(G/T)gcaac intron-variant
rs4774775 -- 55,508,616(+) TACAG(A/G)CGTGA upstream-variant-2KB
rs8033344 -- 55,501,903(+) ccaga(C/G)gtggt intron-variant

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

Variant ID Type Subtype PubMed ID
nsv904243 CNV Loss 21882294
nsv520799 CNV Loss 19592680
nsv904244 CNV Loss 21882294
nsv833016 CNV Gain 17160897
nsv1542 CNV Insertion 18451855
nsv817693 CNV Loss 17921354

Relevant External Links for DYX1C1 Gene

HapMap Linkage Disequilibrium report
DYX1C1
Human Gene Mutation Database (HGMD)
DYX1C1

Disorders for DYX1C1 Gene

(2) OMIM Diseases for DYX1C1 Gene (608706)

UniProtKB/Swiss-Prot

DYXC1_HUMAN
  • 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).
  • 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.

(2) University of Copenhagen DISEASES for DYX1C1 Gene

Relevant External Links for DYX1C1

Genetic Association Database (GAD)
DYX1C1
Human Genome Epidemiology (HuGE) Navigator
DYX1C1
genes like me logo Genes that share disorders with DYX1C1: view

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 23
  2. DYX1C1 is required for axonemal dynein assembly and ciliary motility. (PMID: 23872636) Tarkar A. … Omran H. (Nat. Genet. 2013) 2 3 4
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  4. Support for EKN1 as the susceptibility locus for dyslexia on 15q21. (PMID: 15249932) Wigg K.G. … Barr C.L. (Mol. Psychiatry 2004) 3 23
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4

Products for DYX1C1 Gene

Sources for DYX1C1 Gene

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