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Aliases for DACH1 Gene

Aliases for DACH1 Gene

  • Dachshund Family Transcription Factor 1 2 3 5
  • DACH 3 4
  • Dachshund Homolog 1 (Drosophila) 2
  • Dachshund Homolog (Drosophila) 2
  • Dachshund Homolog 1 3
  • Dac Homolog 3
  • Dach1 4

External Ids for DACH1 Gene

Previous HGNC Symbols for DACH1 Gene

  • DACH

Previous GeneCards Identifiers for DACH1 Gene

  • GC13M069811
  • GC13M070910
  • GC13M072012
  • GC13M052714

Summaries for DACH1 Gene

Entrez Gene Summary for DACH1 Gene

  • This gene encodes a chromatin-associated protein that associates with other DNA-binding transcription factors to regulate gene expression and cell fate determination during development. The protein contains a Ski domain that is highly conserved from Drosophila to human. Expression of this gene is lost in some forms of metastatic cancer, and is correlated with poor prognosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]

GeneCards Summary for DACH1 Gene

DACH1 (Dachshund Family Transcription Factor 1) is a Protein Coding gene. Diseases associated with DACH1 include Periosteal Osteogenic Sarcoma and Postaxial Polydactyly, Type A2. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and transcription factor activity, RNA polymerase II core promoter sequence-specific binding involved in preinitiation complex assembly. An important paralog of this gene is DACH2.

UniProtKB/Swiss-Prot for DACH1 Gene

  • Transcription factor that is involved in regulation of organogenesis. Seems to be a regulator of SIX1, SIX6 and probably SIX5. Corepression of precursor cell proliferation in myoblasts by SIX1 is switched to coactivation through recruitment of EYA3 to the SIX1-DACH1 complex. Transcriptional activation seems also to involve association of CREBBP. Seems to act as a corepressor of SIX6 in regulating proliferation by directly repressing cyclin-dependent kinase inhibitors, including the p27Kip1 promoter (By similarity). Inhibits TGF-beta signaling through interaction with SMAD4 and NCOR1. Binds to chromatin DNA via its DACHbox-N domain (By similarity).

Gene Wiki entry for DACH1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DACH1 Gene

Genomics for DACH1 Gene

Regulatory Elements for DACH1 Gene

Enhancers for DACH1 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
GH13G071860 1.6 FANTOM5 ENCODE dbSUPER 28.3 +4.8 4817 7.6 PKNOX1 ARNT FEZF1 GLI4 ZNF2 ZNF121 GLIS2 KLF7 ZNF263 SP3 DACH1 GC13M071866 GC13M071865 GC13M071857
GH13G071827 0.8 Ensembl ENCODE 11.8 +40.7 40696 1.2 GATA2 MAX MYC PRDM1 TCF7L2 TRIM28 DACH1 RPL35AP31 GC13P071789
GH13G071845 0.3 FANTOM5 6.8 +23.3 23321 0.3 DACH1 RPL35AP31 GC13P071789
GH13G071527 0.5 FANTOM5 dbSUPER 4 +341.0 340966 0.3 DACH1 GC13P071515 GC13P071626
GH13G071541 0.3 FANTOM5 6.5 +327.2 327183 0.0 DACH1 GC13P071515 GC13P071626
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around DACH1 on UCSC Golden Path with GeneCards custom track

Genomic Location for DACH1 Gene

Chromosome:
13
Start:
71,437,966 bp from pter
End:
71,869,113 bp from pter
Size:
431,148 bases
Orientation:
Minus strand

Genomic View for DACH1 Gene

Genes around DACH1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DACH1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DACH1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DACH1 Gene

Proteins for DACH1 Gene

  • Protein details for DACH1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UI36-DACH1_HUMAN
    Recommended name:
    Dachshund homolog 1
    Protein Accession:
    Q9UI36
    Secondary Accessions:
    • D0FY35
    • D0FY36
    • O75523
    • O75687
    • Q5VYY3
    • Q5VYY4
    • Q96SG3
    • Q96SG4
    • Q9H524
    • Q9UMH4

    Protein attributes for DACH1 Gene

    Size:
    760 amino acids
    Molecular mass:
    78676 Da
    Quaternary structure:
    • Interacts with SIX1, SIX6 and EYA3. Interacts with NCOR1 and HDAC3 through its N-terminus. Interacts with SIN3A through its C-terminus (By similarity). Interacts with SMAD3 and SMAD4.
    SequenceCaution:
    • Sequence=CAA06666.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAC12840.2; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAH73005.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAH73006.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAH73303.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAH73304.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI14979.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI14980.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI16673.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for DACH1 Gene

    Alternative splice isoforms for DACH1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DACH1 Gene

Post-translational modifications for DACH1 Gene

  • Ubiquitination at Lys653 and isoforms=2, 3, 4668
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for DACH1 Gene

Domains & Families for DACH1 Gene

Protein Domains for DACH1 Gene

Suggested Antigen Peptide Sequences for DACH1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9UI36

UniProtKB/Swiss-Prot:

DACH1_HUMAN :
  • The DACHbox-N/DD1 domain forms a structure containing a DNA binding motif similar to that of the forkhead/winged helix domain.
  • Belongs to the DACH/dachshund family.
Domain:
  • The DACHbox-N/DD1 domain forms a structure containing a DNA binding motif similar to that of the forkhead/winged helix domain.
Family:
  • Belongs to the DACH/dachshund family.
genes like me logo Genes that share domains with DACH1: view

No data available for Gene Families for DACH1 Gene

Function for DACH1 Gene

Molecular function for DACH1 Gene

UniProtKB/Swiss-Prot Function:
Transcription factor that is involved in regulation of organogenesis. Seems to be a regulator of SIX1, SIX6 and probably SIX5. Corepression of precursor cell proliferation in myoblasts by SIX1 is switched to coactivation through recruitment of EYA3 to the SIX1-DACH1 complex. Transcriptional activation seems also to involve association of CREBBP. Seems to act as a corepressor of SIX6 in regulating proliferation by directly repressing cyclin-dependent kinase inhibitors, including the p27Kip1 promoter (By similarity). Inhibits TGF-beta signaling through interaction with SMAD4 and NCOR1. Binds to chromatin DNA via its DACHbox-N domain (By similarity).

Gene Ontology (GO) - Molecular Function for DACH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001075 transcription factor activity, RNA polymerase II core promoter sequence-specific binding involved in preinitiation complex assembly IEA,IBA --
GO:0001078 transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding IDA 20956529
GO:0003677 DNA binding IEA --
GO:0003700 transcription factor activity, sequence-specific DNA binding IEA --
GO:0005515 protein binding IPI 14525983
genes like me logo Genes that share ontologies with DACH1: view
genes like me logo Genes that share phenotypes with DACH1: view

Animal Models for DACH1 Gene

MGI Knock Outs for DACH1:

Animal Model Products

miRNA for DACH1 Gene

miRTarBase miRNAs that target DACH1

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for DACH1 Gene

Localization for DACH1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DACH1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DACH1 gene
Compartment Confidence
nucleus 5
cytosol 2
extracellular 1
mitochondrion 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for DACH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA,IEA --
GO:0005654 nucleoplasm IDA --
GO:0005667 transcription factor complex IBA,IEA --
GO:0005737 cytoplasm IEA --
GO:0043231 intracellular membrane-bounded organelle IDA --
genes like me logo Genes that share ontologies with DACH1: view

Pathways & Interactions for DACH1 Gene

SuperPathways for DACH1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for DACH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IEA --
GO:0001967 suckling behavior IEA --
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0007275 multicellular organism development IEA,IBA --
genes like me logo Genes that share ontologies with DACH1: view

No data available for Pathways by source and SIGNOR curated interactions for DACH1 Gene

Drugs & Compounds for DACH1 Gene

No Compound Related Data Available

Transcripts for DACH1 Gene

mRNA/cDNA for DACH1 Gene

(8) REFSEQ mRNAs :
(7) Additional mRNA sequences :
(1) Selected AceView cDNA sequences:
(4) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for DACH1 Gene

Dachshund homolog 1 (Drosophila):
Representative Sequences:

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for DACH1 Gene

No ASD Table

Relevant External Links for DACH1 Gene

GeneLoc Exon Structure for
DACH1
ECgene alternative splicing isoforms for
DACH1

Expression for DACH1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for DACH1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for DACH1 Gene

This gene is overexpressed in Brain - Caudate (basal ganglia) (x5.5) and Brain - Putamen (basal ganglia) (x5.1).

Protein differential expression in normal tissues from HIPED for DACH1 Gene

This gene is overexpressed in Fetal gut (34.0), Heart (26.1), and Retina (8.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for DACH1 Gene



Protein tissue co-expression partners for DACH1 Gene

NURSA nuclear receptor signaling pathways regulating expression of DACH1 Gene:

DACH1

SOURCE GeneReport for Unigene cluster for DACH1 Gene:

Hs.129452

mRNA Expression by UniProt/SwissProt for DACH1 Gene:

Q9UI36-DACH1_HUMAN
Tissue specificity: Widely expressed. Isoform 2 is found in brain, heart, kidney, liver, leukocytes and spleen. Isoform 3 is found in liver and heart. Isoform 4 is found in spleen.

Evidence on tissue expression from TISSUES for DACH1 Gene

  • Eye(4.3)
  • Blood(2)
  • Kidney(2)
genes like me logo Genes that share expression patterns with DACH1: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for DACH1 Gene

Orthologs for DACH1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for DACH1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DACH1 34
  • 99.11 (n)
cow
(Bos Taurus)
Mammalia DACH1 34
  • 94.92 (n)
dog
(Canis familiaris)
Mammalia DACH1 34
  • 94.36 (n)
mouse
(Mus musculus)
Mammalia Dach1 34 16
  • 90.76 (n)
rat
(Rattus norvegicus)
Mammalia Dach1 34
  • 88.23 (n)
chicken
(Gallus gallus)
Aves DACH1 34
  • 88.77 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia dach1 34
  • 82.16 (n)
zebrafish
(Danio rerio)
Actinopterygii dachd 34
  • 77.88 (n)
dachc 34
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2640 34
Species where no ortholog for DACH1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • 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 DACH1 Gene

ENSEMBL:
Gene Tree for DACH1 (if available)
TreeFam:
Gene Tree for DACH1 (if available)

Paralogs for DACH1 Gene

Paralogs for DACH1 Gene

(1) SIMAP similar genes for DACH1 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with DACH1: view

Variants for DACH1 Gene

Sequence variations from dbSNP and Humsavar for DACH1 Gene

SNP ID Clin Chr 13 pos Sequence Context AA Info Type
rs192675802 Uncertain significance 71,488,991(+) AAAAG(A/G)CCTAC intron-variant
rs1000003351 -- 71,528,359(+) ATATA(C/T)GTTTT intron-variant
rs1000003975 -- 71,796,978(+) TTATA(-/T)TTCTT intron-variant
rs1000016797 -- 71,681,488(+) GTCAC(A/T)GATTT intron-variant
rs1000019059 -- 71,661,346(+) AAATC(C/T)GTCAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for DACH1 Gene

Variant ID Type Subtype PubMed ID
dgv229e201 CNV deletion 23290073
dgv230e201 CNV deletion 23290073
dgv231e201 CNV deletion 23290073
dgv232e201 CNV deletion 23290073
dgv3242n54 CNV loss 21841781
dgv3243n54 CNV loss 21841781
dgv361e199 CNV deletion 23128226
dgv561e212 CNV loss 25503493
esv1005359 CNV deletion 20482838
esv1241719 CNV deletion 17803354
esv1592042 CNV deletion 17803354
esv1703652 CNV deletion 17803354
esv2399056 CNV deletion 18987734
esv2441342 CNV deletion 19546169
esv2747602 CNV deletion 23290073
esv2747603 CNV deletion 23290073
esv2747605 CNV deletion 23290073
esv2747609 CNV deletion 23290073
esv2747611 CNV deletion 23290073
esv2747616 CNV deletion 23290073
esv2747617 CNV deletion 23290073
esv2747618 CNV deletion 23290073
esv2747620 CNV deletion 23290073
esv2747621 CNV deletion 23290073
esv2747622 CNV deletion 23290073
esv2747623 CNV deletion 23290073
esv2747624 CNV deletion 23290073
esv2759947 CNV loss 17122850
esv3308380 CNV mobile element insertion 20981092
esv3333819 CNV insertion 20981092
esv3441551 CNV insertion 20981092
esv3550675 CNV deletion 23714750
esv3580752 CNV loss 25503493
esv3580755 CNV loss 25503493
esv3580757 CNV loss 25503493
esv3632676 CNV loss 21293372
esv3892388 CNV loss 25118596
nsv1038176 CNV gain 25217958
nsv1071110 CNV deletion 25765185
nsv1081 CNV deletion 18451855
nsv1122843 CNV deletion 24896259
nsv455981 CNV loss 19166990
nsv455984 CNV loss 19166990
nsv471153 CNV loss 18288195
nsv471154 CNV gain 18288195
nsv510350 OTHER sequence alteration 20534489
nsv510612 CNV deletion 20534489
nsv562267 CNV loss 21841781
nsv562268 CNV loss 21841781
nsv562277 CNV loss 21841781
nsv562278 CNV loss 21841781
nsv64658 CNV deletion 16902084
nsv832645 CNV gain 17160897
nsv976132 CNV duplication 23825009
nsv977259 CNV duplication 23825009

Variation tolerance for DACH1 Gene

Residual Variation Intolerance Score: 12.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.76; 57.93% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DACH1 Gene

Human Gene Mutation Database (HGMD)
DACH1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DACH1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DACH1 Gene

Disorders for DACH1 Gene

MalaCards: The human disease database

(7) MalaCards diseases for DACH1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
periosteal osteogenic sarcoma
  • parosteal osteosarcoma
postaxial polydactyly, type a2
peripheral osteosarcoma
  • surface osteosarcoma
branchiootorenal syndrome 1, with or without cataracts
  • anterior segment anomalies with or without cataract
branchiootorenal syndrome
  • branchio-oto-renal syndrome
- elite association - COSMIC cancer census association via MalaCards
Search DACH1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for DACH1

Genetic Association Database (GAD)
DACH1
Human Genome Epidemiology (HuGE) Navigator
DACH1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DACH1
genes like me logo Genes that share disorders with DACH1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DACH1 Gene

Publications for DACH1 Gene

  1. The DNA sequence and analysis of human chromosome 13. (PMID: 15057823) Dunham A. … Ross M.T. (Nature 2004) 2 3 4 64
  2. DACH1 inhibits transforming growth factor-beta signaling through binding Smad4. (PMID: 14525983) Wu K. … Pestell R.G. (J. Biol. Chem. 2003) 3 4 22 64
  3. Dach: genomic characterization, evaluation as a candidate for postaxial polydactyly type A2, and developmental expression pattern of the mouse homolog. (PMID: 11543628) Ayres J.A. … Nuckolls G.H. (Genomics 2001) 3 4 22 64
  4. Genome-wide mapping for clinically relevant predictors of lamotrigine- and phenytoin-induced hypersensitivity reactions. (PMID: 22379998) McCormack M. … Cavalleri G.L. (Pharmacogenomics 2012) 3 46 64
  5. Inhibition of Eyes Absent Homolog 4 expression induces malignant peripheral nerve sheath tumor necrosis. (PMID: 19901965) Miller S.J. … Ratner N. (Oncogene 2010) 3 22 64

Products for DACH1 Gene

Sources for DACH1 Gene

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