Human Gene DACH1 (ENST00000613252.5) from GENCODE V44
  Description: Homo sapiens dachshund family transcription factor 1 (DACH1), transcript variant 2, mRNA. (from RefSeq NM_080760)
RefSeq Summary (NM_080759): 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].
Gencode Transcript: ENST00000613252.5
Gencode Gene: ENSG00000276644.5
Transcript (Including UTRs)
   Position: hg38 chr13:71,437,966-71,867,204 Size: 429,239 Total Exon Count: 11 Strand: -
Coding Region
   Position: hg38 chr13:71,440,655-71,866,769 Size: 426,115 Coding Exon Count: 11 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
Other NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr13:71,437,966-71,867,204)mRNA (may differ from genome)Protein (706 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCLynxMalacardsMGImyGene2neXtProt
OMIMPubMedUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: DACH1_HUMAN
DESCRIPTION: RecName: Full=Dachshund homolog 1; Short=Dach1;
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).
SUBUNIT: 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.
INTERACTION: O75376:NCOR1; NbExp=2; IntAct=EBI-347111, EBI-347233; Q13485:SMAD4; NbExp=3; IntAct=EBI-347111, EBI-347263;
SUBCELLULAR LOCATION: Nucleus.
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.
DOMAIN: The DACHbox-N/DD1 domain forms a structure containing a DNA binding motif similar to that of the forkhead/winged helix domain.
SIMILARITY: Belongs to the DACH/dachshund family.
SEQUENCE CAUTION: Sequence=CAA06666.1; Type=Erroneous initiation; Sequence=CAC12840.2; Type=Erroneous gene model prediction; Sequence=CAH73005.1; Type=Erroneous gene model prediction; Sequence=CAH73006.1; Type=Erroneous gene model prediction; Sequence=CAH73303.1; Type=Erroneous gene model prediction; Sequence=CAH73304.1; Type=Erroneous gene model prediction; Sequence=CAI14979.1; Type=Erroneous gene model prediction; Sequence=CAI14980.1; Type=Erroneous gene model prediction; Sequence=CAI16673.1; Type=Erroneous gene model prediction;
WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/DACH1";

-  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: DACH1
Diseases sorted by gene-association score: periosteal osteogenic sarcoma (15), postaxial polydactyly, type a2 (9), miles-carpenter syndrome (7), deafness, autosomal dominant 10 (6), peripheral osteosarcoma (6)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -81.07435-0.186 Picture PostScript Text
3' UTR -594.802689-0.221 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
IPR009061 - DNA-bd_dom_put
IPR003380 - Transform_Ski

Pfam Domains:
PF02437 - SKI/SNO/DAC family

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1L8R - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q9UI36
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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
Genome BrowserGenome BrowserGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsembl   
Protein SequenceProtein SequenceProtein Sequence   
AlignmentAlignmentAlignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0001075 transcription factor activity, RNA polymerase II core promoter sequence-specific binding involved in preinitiation complex assembly
GO:0001078 transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding
GO:0003677 DNA binding
GO:0003700 transcription factor activity, sequence-specific DNA binding
GO:0005515 protein binding

Biological Process:
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0001967 suckling behavior
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0007275 multicellular organism development
GO:0007585 respiratory gaseous exchange
GO:0008283 cell proliferation
GO:0010944 negative regulation of transcription by competitive promoter binding
GO:0030336 negative regulation of cell migration
GO:0033262 regulation of nuclear cell cycle DNA replication
GO:0045892 negative regulation of transcription, DNA-templated
GO:0046545 development of primary female sexual characteristics
GO:0048147 negative regulation of fibroblast proliferation
GO:0051123 RNA polymerase II transcriptional preinitiation complex assembly
GO:0060244 negative regulation of cell proliferation involved in contact inhibition
GO:2000279 negative regulation of DNA biosynthetic process

Cellular Component:
GO:0005634 nucleus
GO:0005667 transcription factor complex
GO:0005737 cytoplasm


-  Descriptions from all associated GenBank mRNAs
  AF356492 - Homo sapiens dachshund (DACH) mRNA, complete cds.
AJ005670 - Homo sapiens mRNA for dachshund protein.
AF102546 - Homo sapiens dachshund (DACH) mRNA, complete cds.
BC021219 - Homo sapiens dachshund homolog 1 (Drosophila), mRNA (cDNA clone IMAGE:4301720), partial cds.
AL079278 - Homo sapiens mRNA full length insert cDNA clone EUROIMAGE 381801.
AK001000 - Homo sapiens cDNA FLJ10138 fis, clone HEMBA1003148, highly similar to Homo sapiens mRNA full length insert cDNA clone EUROIMAGE 381801.
KJ904448 - Synthetic construct Homo sapiens clone ccsbBroadEn_13842 DACH1-like gene, encodes complete protein.
BC166617 - Synthetic construct Homo sapiens clone IMAGE:100066343, MGC:195480 dachshund homolog 1 (Drosophila) (DACH1) mRNA, encodes complete protein.
JD504191 - Sequence 485215 from Patent EP1572962.
JD047231 - Sequence 28255 from Patent EP1572962.
JD225744 - Sequence 206768 from Patent EP1572962.
JD234379 - Sequence 215403 from Patent EP1572962.
JD052268 - Sequence 33292 from Patent EP1572962.
JD501612 - Sequence 482636 from Patent EP1572962.
JD306128 - Sequence 287152 from Patent EP1572962.
JD299768 - Sequence 280792 from Patent EP1572962.
JD040888 - Sequence 21912 from Patent EP1572962.
JD437525 - Sequence 418549 from Patent EP1572962.
JD503924 - Sequence 484948 from Patent EP1572962.
AF069509 - Homo sapiens dac homolog mRNA, partial cds.
JD151443 - Sequence 132467 from Patent EP1572962.
JD290304 - Sequence 271328 from Patent EP1572962.
JD298350 - Sequence 279374 from Patent EP1572962.
JD099583 - Sequence 80607 from Patent EP1572962.
JD244429 - Sequence 225453 from Patent EP1572962.
JD408028 - Sequence 389052 from Patent EP1572962.
JD319211 - Sequence 300235 from Patent EP1572962.
JD122964 - Sequence 103988 from Patent EP1572962.
JD094567 - Sequence 75591 from Patent EP1572962.
JD121254 - Sequence 102278 from Patent EP1572962.
JD566268 - Sequence 547292 from Patent EP1572962.
JD249195 - Sequence 230219 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: DACH, DACH1_HUMAN, ENST00000613252.1, ENST00000613252.2, ENST00000613252.3, ENST00000613252.4, NM_080760, O75523, O75687, Q5VYY3, Q5VYY4, Q96SG3, Q96SG4, Q9H524, Q9UI36, Q9UMH4, uc058xki.1, uc058xki.2
UCSC ID: ENST00000613252.5
RefSeq Accession: NM_080759
Protein: Q9UI36 (aka DACH1_HUMAN or DAH1_HUMAN)
CCDS: CCDS41899.1

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