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. Mu... See more...

Aliases for DACH1 Gene

Aliases for DACH1 Gene

  • Dachshund Family Transcription Factor 1 2 3 5
  • Dachshund Homolog 1 3 4
  • DACH 3 4
  • Dachshund Homolog 1 (Drosophila) 2
  • Dachshund Homolog (Drosophila) 2
  • Dac Homolog 3
  • DACH1 5
  • 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 Colobomatous Microphthalmia and Deafness, Autosomal Dominant 10. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity 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 Summary 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 , Rfam classification and piRNA Summary for DACH1 Gene

Genomics for DACH1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for DACH1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH13J071860 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 628.2 +3.6 3628 7.9 PRDM10 ZNF629 ZNF512 ZNF692 PRDM1 ZIC2 ZSCAN4 POLR2A PATZ1 ZNF501 DACH1 lnc-MZT1-4 lnc-BORA-13 lnc-MZT1-5
GH13J071869 Enhancer 0.6 Ensembl dbSUPER 600.7 -1.7 -1733 0.8 USF1 REST NANOG DACH1 lnc-BORA-13 HSALNG0097858 MZT1
GH13J071814 Enhancer 0.6 UCNEbase Ensembl 12.3 +53.0 52950 0.2 PKNOX1 DACH1 RPL35AP31 HSALNG0097855
GH13J071842 Enhancer 0.5 Ensembl 11.9 +25.7 25667 0.4 ZBTB44 TCF7L2 KLF7 SCRT1 ZNF843 FEZF1 PRDM6 ZNF664 KLF1 DACH1 RPL35AP31 HSALNG0097855
GH13J071827 Enhancer 0.5 ENCODE 11.8 +39.7 39651 1.2 PRDM1 TCF7L2 ZBTB17 ZNF660 TRIM28 POLR2A MYC MAX PKNOX1 DACH1 RPL35AP31 HSALNG0097855
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DACH1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DACH1

Top Transcription factor binding sites by QIAGEN in the DACH1 gene promoter:
  • c-Ets-1
  • Chx10
  • E2F
  • E2F-1
  • Ik-2
  • IRF-7A
  • NF-kappaB
  • NF-kappaB1
  • Nkx2-2
  • SRY

Genomic Locations for DACH1 Gene

Genomic Locations for DACH1 Gene
chr13:71,437,966-71,868,068
(GRCh38/hg38)
Size:
430,103 bases
Orientation:
Minus strand
chr13:72,012,098-72,441,330
(GRCh37/hg19)
Size:
429,233 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:
    • A0A087WZP2
    • D0FY35
    • D0FY36
    • O75523
    • O75687
    • Q5VYY3
    • Q5VYY4
    • Q96SG3
    • Q96SG4
    • Q9H524
    • Q9UMH4

    Protein attributes for DACH1 Gene

    Size:
    758 amino acids
    Molecular mass:
    78562 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; Note=Truncated N-terminus.; Evidence={ECO:0000305};
    Miscellaneous:
    • [Isoform 2]: Major.

    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 Lys651 and Lys666
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for DACH1 Gene

Domains & Families for DACH1 Gene

Gene Families for DACH1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for DACH1 Gene

Suggested Antigen Peptide Sequences for DACH1 Gene

GenScript: Design optimal peptide antigens:
  • Dachshund homolog 1 (DACH1_HUMAN)

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

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).

Phenotypes From GWAS Catalog for DACH1 Gene

Gene Ontology (GO) - Molecular Function for DACH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IDA 20956529
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IDA 20956529
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific IEA --
GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific IDA 20956529
GO:0003677 DNA binding IEA --
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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DACH1

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 4
plasma membrane 2
extracellular 2
cytoskeleton 2
mitochondrion 2
cytosol 2
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (3)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for DACH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA 21873635
GO:0005667 transcription factor complex IBA 21873635
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with DACH1: view

Pathways & Interactions for DACH1 Gene

PathCards logo

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 by RNA polymerase II IDA 20956529
GO:0001967 suckling behavior IEA --
GO:0006355 regulation of transcription, DNA-templated IBA 21873635
GO:0007275 multicellular organism development IEA --
GO:0007585 respiratory gaseous exchange IEA --
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

4 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DACH1

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

No ASD Table

Relevant External Links for DACH1 Gene

GeneLoc Exon Structure for
DACH1

Expression for DACH1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(4.4)
  • Nervous system(2.6)
  • Blood(2.5)
  • Kidney(2.5)
  • Intestine(2.1)
genes like me logo Genes that share expression patterns with DACH1: view

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 30
  • 99.11 (n)
Cow
(Bos Taurus)
Mammalia DACH1 30
  • 94.92 (n)
Dog
(Canis familiaris)
Mammalia DACH1 30
  • 94.36 (n)
Mouse
(Mus musculus)
Mammalia Dach1 30 17
  • 90.76 (n)
Rat
(Rattus norvegicus)
Mammalia Dach1 30
  • 88.23 (n)
Chicken
(Gallus gallus)
Aves DACH1 30
  • 88.77 (n)
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia dach1 30
  • 82.16 (n)
Zebrafish
(Danio rerio)
Actinopterygii dachd 30
  • 77.88 (n)
dachc 30
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.2640 30
Species where no ortholog for DACH1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Squirt (Ciona savignyi)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for DACH1: view image

Paralogs for DACH1 Gene

Paralogs for DACH1 Gene

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

  • DACH1_HUMAN
genes like me logo Genes that share paralogs with DACH1: view

Variants for DACH1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DACH1 Gene

SNP ID Clinical significance and condition Chr 13 pos Variation AA Info Type
774219 Benign: not provided 71,630,557(-) G/C SYNONYMOUS_VARIANT,INTRON_VARIANT
rs192675802 Uncertain Significance: not specified 71,488,991(-) G/A INTRON_VARIANT
rs748058171 Uncertain Significance: not specified 71,866,527(-) GCCGCCGCCGCCGCCG NO_SEQUENCE_ALTERATION

Additional dbSNP identifiers (rs#s) for DACH1 Gene

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)

Additional Variant Information for DACH1 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for DACH1 Gene

MalaCards: The human disease database

(6) MalaCards diseases for DACH1 Gene - From: GTR, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
colobomatous microphthalmia
  • microphthalmia with colobomatous cyst
deafness, autosomal dominant 10
  • dfna10
malignant peripheral nerve sheath tumor
  • neurofibrosarcoma
periosteal osteogenic sarcoma
  • parosteal osteosarcoma
granular cell carcinoma
  • granular cell adenocarcinoma
- elite association - COSMIC cancer census association via MalaCards
Search DACH1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for DACH1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
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 MT (Nature 2004) 2 3 4
  2. DACH1 inhibits transforming growth factor-beta signaling through binding Smad4. (PMID: 14525983) Wu K … Pestell RG (The Journal of biological chemistry 2003) 3 4 23
  3. DACH: genomic characterization, evaluation as a candidate for postaxial polydactyly type A2, and developmental expression pattern of the mouse homologue. (PMID: 11543628) Ayres JA … Nuckolls GH (Genomics 2001) 3 4 23
  4. Genome-wide mapping for clinically relevant predictors of lamotrigine- and phenytoin-induced hypersensitivity reactions. (PMID: 22379998) McCormack M … Cavalleri GL (Pharmacogenomics 2012) 3 41
  5. Inhibition of Eyes Absent Homolog 4 expression induces malignant peripheral nerve sheath tumor necrosis. (PMID: 19901965) Miller SJ … Ratner N (Oncogene 2010) 3 23

Products for DACH1 Gene

Sources for DACH1 Gene