Human Gene DACH1 (uc021rkl.1)
  Description: Homo sapiens dachshund homolog 1 (Drosophila) (DACH1), transcript variant 3, mRNA.
RefSeq Summary (NM_004392): 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].
Transcript (Including UTRs)
   Position: hg19 chr13:72,012,098-72,441,330 Size: 429,233 Total Exon Count: 7 Strand: -
Coding Region
   Position: hg19 chr13:72,014,787-72,440,907 Size: 426,121 Coding Exon Count: 7 

Page IndexSequence and LinksPrimersGenetic AssociationsMalaCardsCTD
Gene AllelesMicroarray ExpressionRNA StructureProtein StructureOther SpeciesmRNA Descriptions
Other NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr13:72,012,098-72,441,330)mRNA (may differ from genome)Protein (506 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCLynxMalacardsMGI
OMIMPubMedTreefamUniProtKBWikipediaBioGrid CRISPR DB

-  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


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): DACH1
CDC HuGE Published Literature: DACH1
Positive Disease Associations: Anticonvulsants , CD40 Ligand , Cystatin C
Related Studies:
  1. Anticonvulsants
    Mark McCormack et al. Pharmacogenomics 2012, Genome-wide mapping for clinically relevant predictors of lamotrigine- and phenytoin-induced hypersensitivity reactions., Pharmacogenomics. [PubMed 22379998]
    HLA-A*3101 does not appear to be a predictor for lamotrigine- and phenytoin-induced cADRs in Europeans. Our genome-wide association study results do not support the existence of a clinically relevant common variant for the development of lamotrigine- or phenytoin-induced cADRs. As a predictive marker, HLA-A*3101 appears to be specific for carbamazepine-induced cADRs.
  2. CD40 Ligand
    Emelia J Benjamin et al. BMC medical genetics 2007, Genome-wide association with select biomarker traits in the Framingham Heart Study., BMC medical genetics. [PubMed 17903293]
    The Framingham GWAS represents a resource to describe potentially novel genetic influences on systemic biomarker variability. The newly described associations will need to be replicated in other studies.
  3. Cystatin C
    Anna Kottgen et al. Nature genetics 2010, New loci associated with kidney function and chronic kidney disease., Nature genetics. [PubMed 20383146]
           more ... click here to view the complete list

-  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

+  Common Gene Haplotype Alleles
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+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -86.28423-0.204 Picture PostScript Text
3' UTR -624.172689-0.232 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

SCOP Domains:
46955 - Putative DNA-binding domain

ModBase Predicted Comparative 3D Structure on D0FY36
FrontTopSide
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
No orthologNo orthologNo orthologGenome BrowserNo orthologNo ortholog
   Gene Details  
   Gene Sorter  
   FlyBase  
   Protein Sequence  
   Alignment  

-  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: D0FY36, D0FY36_HUMAN, hCG_32210, NM_004392, NP_004383
UCSC ID: uc021rkl.1
RefSeq Accession: NM_004392
Protein: D0FY36 CCDS: CCDS53873.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_004392.5
exon count: 7CDS single in 3' UTR: no RNA size: 4640
ORF size: 1521CDS single in intron: no Alignment % ID: 99.98
txCdsPredict score: 3194.00frame shift in genome: no % Coverage: 99.85
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

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