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Q9UI36 (DACH1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 130. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Dachshund homolog 1

Short name=Dach1
Gene names
Name:DACH1
Synonyms:DACH
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length760 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

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. Ref.7

Subunit 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. Ref.7

Subcellular location

Nucleus Ref.7.

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. Ref.2

Domain

The DACHbox-N/DD1 domain forms a structure containing a DNA binding motif similar to that of the forkhead/winged helix domain.

Sequence similarities

Belongs to the DACH/dachshund family.

Sequence caution

The sequence CAA06666.1 differs from that shown. Reason: Erroneous initiation.

The sequence CAC12840.2 differs from that shown. Reason: Erroneous gene model prediction.

The sequence CAH73005.1 differs from that shown. Reason: Erroneous gene model prediction.

The sequence CAH73006.1 differs from that shown. Reason: Erroneous gene model prediction.

The sequence CAH73303.1 differs from that shown. Reason: Erroneous gene model prediction.

The sequence CAH73304.1 differs from that shown. Reason: Erroneous gene model prediction.

The sequence CAI14979.1 differs from that shown. Reason: Erroneous gene model prediction.

The sequence CAI14980.1 differs from that shown. Reason: Erroneous gene model prediction.

The sequence CAI16673.1 differs from that shown. Reason: Erroneous gene model prediction.

Ontologies

Keywords
   Biological processTranscription
Transcription regulation
   Cellular componentNucleus
   Coding sequence diversityAlternative splicing
   DomainCoiled coil
   LigandDNA-binding
   Molecular functionActivator
Developmental protein
Repressor
   Technical term3D-structure
Complete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processcell proliferation

Inferred from electronic annotation. Source: Ensembl

development of primary female sexual characteristics

Inferred from electronic annotation. Source: Ensembl

negative regulation of cell migration

Inferred from direct assay PubMed 20956529. Source: BHF-UCL

negative regulation of cell proliferation involved in contact inhibition

Inferred from electronic annotation. Source: Ensembl

negative regulation of fibroblast proliferation

Inferred from electronic annotation. Source: Ensembl

negative regulation of transcription by competitive promoter binding

Inferred from mutant phenotype PubMed 20956529. Source: BHF-UCL

respiratory gaseous exchange

Inferred from electronic annotation. Source: Ensembl

suckling behavior

Inferred from electronic annotation. Source: Ensembl

   Cellular_componentcytoplasm

Inferred from electronic annotation. Source: Ensembl

nucleus

Inferred from electronic annotation. Source: UniProtKB-SubCell

transcription factor complex

Inferred from electronic annotation. Source: Ensembl

   Molecular_functionDNA binding

Inferred from electronic annotation. Source: UniProtKB-KW

RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription

Inferred from direct assay PubMed 20956529. Source: BHF-UCL

RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity involved in preinitiation complex assembly

Inferred from electronic annotation. Source: Ensembl

protein binding

Inferred from physical interaction Ref.7PubMed 16189514PubMed 21516116. Source: IntAct

Complete GO annotation...

Binary interactions

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]

Note: Additional isoforms seem to exist.
Isoform 1 (identifier: Q9UI36-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
Note: Derived from EST data. No experimental confirmation available.
Isoform 2 (identifier: Q9UI36-2)

The sequence of this isoform differs from the canonical sequence as follows:
     378-429: Missing.
Note: Major.
Isoform 3 (identifier: Q9UI36-3)

The sequence of this isoform differs from the canonical sequence as follows:
     378-429: Missing.
     430-577: Missing.
Isoform 4 (identifier: Q9UI36-4)

The sequence of this isoform differs from the canonical sequence as follows:
     324-577: Missing.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 760760Dachshund homolog 1
PRO_0000095597

Regions

Region191 – 386196Interaction with SIX6 and HDAC3 By similarity
Region191 – 27787DACHbox-N
Region618 – 69881DACHbox-C
Region629 – 70880Interaction with SIN3A By similarity
Coiled coil632 – 72089 Potential
Compositional bias61 – 688Poly-Ala
Compositional bias74 – 8916Poly-Gly
Compositional bias92 – 10312Poly-Gly
Compositional bias116 – 1238Poly-Gly
Compositional bias142 – 16524Poly-Ser
Compositional bias327 – 3359Poly-Ala
Compositional bias469 – 4724Poly-Ala

Natural variations

Alternative sequence324 – 577254Missing in isoform 4.
VSP_009486
Alternative sequence378 – 42952Missing in isoform 2 and isoform 3.
VSP_009872
Alternative sequence430 – 577148Missing in isoform 3.
VSP_009873

Experimental info

Sequence conflict81 – 822Missing in AAF01351. Ref.1
Sequence conflict81 – 822Missing in AAL08487. Ref.2

Secondary structure

.................. 760
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified June 26, 2013. Version 3.
Checksum: 534B05FE6A142369

FASTA76078,676
        10         20         30         40         50         60 
MAVPAALIPP TQLVPPQPPI STSASSSGTT TSTSSATSSP APSIGPPASS GPTLFRPEPI 

        70         80         90        100        110        120 
ASAAAAAATV TSTGGGGGGG GGGSGGGGGS SGNGGGGGGG GGGSNCNPNL AAASNGSGGG 

       130        140        150        160        170        180 
GGGISAGGGV ASSTPINAST GSSSSSSSSS SSSSSSSSSS SSSSSCGPLP GKPVYSTPSP 

       190        200        210        220        230        240 
VENTPQNNEC KMVDLRGAKV ASFTVEGCEL ICLPQAFDLF LKHLVGGLHT VYTKLKRLEI 

       250        260        270        280        290        300 
TPVVCNVEQV RILRGLGAIQ PGVNRCKLIS RKDFETLYND CTNASSRPGR PPKRTQSVTS 

       310        320        330        340        350        360 
PENSHIMPHS VPGLMSPGII PPTGLTAAAA AAAAATNAAI AEAMKVKKIK LEAMSNYHAS 

       370        380        390        400        410        420 
NNQHGADSEN GDMNSSVGSS DGSWDKETLP SSPSQGPQAS ITHPRMPGAR SLPLSHPLNH 

       430        440        450        460        470        480 
LQQSHLLPNG LELPFMMMPH PLIPVSLPPA SVTMAMSQMN HLSTIANMAA AAQVQSPPSR 

       490        500        510        520        530        540 
VETSVIKERV PDSPSPAPSL EEGRRPGSHP SSHRSSSVSS SPARTESSSD RIPVHQNGLS 

       550        560        570        580        590        600 
MNQMLMGLSP NVLPGPKEGD LAGHDMGHES KRMHIEKDET PLSTPTARDS LDKLSLTGHG 

       610        620        630        640        650        660 
QPLPPGFPSP FLFPDGLSSI ETLLTNIQGL LKVAIDNARA QEKQVQLEKT ELKMDFLRER 

       670        680        690        700        710        720 
ELRETLEKQL AMEQKNRAIV QKRLKKEKKA KRKLQEALEF ETKRREQAEQ TLKQAASTDS 

       730        740        750        760 
LRVLNDSLTP EIEADRSGGR TDAERTIQDG RLYLKTTVMY 

« Hide

Isoform 2 [UniParc].

Checksum: 2AE25D9115836AED
Show »

FASTA70873,144
Isoform 3 [UniParc].

Checksum: DE656EACFAFEE3A8
Show »

FASTA56057,376
Isoform 4 [UniParc].

Checksum: 6B19D491C4E0A65F
Show »

FASTA50652,005

References

« Hide 'large scale' references
[1]"Molecular cloning and expression of the human and mouse homologues of the Drosophila dachshund gene."
Kozmik Z., Pfeffer P., Kralova J., Paces J., Paces V., Kalousova A., Cvekl A.
Dev. Genes Evol. 209:537-545(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
[2]"Dach: genomic characterization, evaluation as a candidate for postaxial polydactyly type A2, and developmental expression pattern of the mouse homolog."
Ayres J.A., Shum L., Akarsu A.N., Dashner R., Takahashi K., Ikura T., Slavkin H.C., Nuckolls G.H.
Genomics 77:18-26(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), ALTERNATIVE SPLICING (ISOFORMS 3; 4 AND 5), TISSUE SPECIFICITY.
[3]"The DNA sequence and analysis of human chromosome 13."
Dunham A., Matthews L.H., Burton J., Ashurst J.L., Howe K.L., Ashcroft K.J., Beare D.M., Burford D.C., Hunt S.E., Griffiths-Jones S., Jones M.C., Keenan S.J., Oliver K., Scott C.E., Ainscough R., Almeida J.P., Ambrose K.D., Andrews D.T. expand/collapse author list , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Bannerjee R., Barlow K.F., Bates K., Beasley H., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burrill W., Carder C., Carter N.P., Chapman J.C., Clamp M.E., Clark S.Y., Clarke G., Clee C.M., Clegg S.C., Cobley V., Collins J.E., Corby N., Coville G.J., Deloukas P., Dhami P., Dunham I., Dunn M., Earthrowl M.E., Ellington A.G., Faulkner L., Frankish A.G., Frankland J., French L., Garner P., Garnett J., Gilbert J.G.R., Gilson C.J., Ghori J., Grafham D.V., Gribble S.M., Griffiths C., Hall R.E., Hammond S., Harley J.L., Hart E.A., Heath P.D., Howden P.J., Huckle E.J., Hunt P.J., Hunt A.R., Johnson C., Johnson D., Kay M., Kimberley A.M., King A., Laird G.K., Langford C.J., Lawlor S., Leongamornlert D.A., Lloyd D.M., Lloyd C., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., McLaren S.J., McMurray A., Milne S., Moore M.J.F., Nickerson T., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K.M., Rice C.M., Searle S., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Steward C.A., Sycamore N., Tester J., Thomas D.W., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Wilming L., Wray P.W., Wright M.W., Young L., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Beck S., Bentley D.R., Rogers J., Ross M.T.
Nature 428:522-528(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]The European IMAGE consortium
Submitted (JUN-1999) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 108-758 (ISOFORM 2).
Tissue: Retina.
[5]"Mammalian and Drosophila dachshund genes are related to the Ski proto-oncogene and are expressed in eye and limb."
Hammond K.L., Hanson I.M., Brown A.G., Lettice L.A., Hill R.E.
Mech. Dev. 74:121-131(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 109-758 (ISOFORM 2).
[6]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 186-758 (ISOFORM 2).
Tissue: Uterus.
[7]"DACH1 inhibits transforming growth factor-beta signaling through binding Smad4."
Wu K., Yang Y., Wang C., Davoli M.A., D'Amico M., Li A., Cveklova K., Kozmik Z., Lisanti M.P., Russell R.G., Cvekl A., Pestell R.G.
J. Biol. Chem. 278:51673-51684(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION IN TGF-BETA SIGNALING, INTERACTION WITH HDAC3; SMAD3; SMAD4; NCOR1 AND SIN3A, SUBCELLULAR LOCATION.
[8]"Structure of the retinal determination protein dachshund reveals a DNA binding motif."
Kim S.-S., Zhang R.-G., Braunstein S.E., Joachimiak A., Cvekl A., Hegde R.S.
Structure 10:787-795(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: X-RAY CRYSTALLOGRAPHY (1.65 ANGSTROMS) OF 184-282.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF102546 mRNA. Translation: AAF01351.1.
AF069509 mRNA. Translation: AAC33466.1.
AF356492 mRNA. Translation: AAL08487.1.
AL138698 expand/collapse EMBL AC list , AL139186, AL163542, AL354995 Genomic DNA. Translation: CAH73303.1. Sequence problems.
AL138698 expand/collapse EMBL AC list , AL139186, AL163542, AL354995 Genomic DNA. Translation: CAH73304.1. Sequence problems.
AL139186 expand/collapse EMBL AC list , AL138698, AL163542, AL354995 Genomic DNA. Translation: CAC12840.2. Sequence problems.
AL139186 expand/collapse EMBL AC list , AL138698, AL163542, AL354995 Genomic DNA. Translation: CAI16673.1. Sequence problems.
AL163542 expand/collapse EMBL AC list , AL138698, AL139186, AL354995 Genomic DNA. Translation: CAH73005.1. Sequence problems.
AL163542 expand/collapse EMBL AC list , AL138698, AL139186, AL354995 Genomic DNA. Translation: CAH73006.1. Sequence problems.
AL354995 expand/collapse EMBL AC list , AL138698, AL139186, AL163542 Genomic DNA. Translation: CAI14979.1. Sequence problems.
AL354995 expand/collapse EMBL AC list , AL138698, AL139186, AL163542 Genomic DNA. Translation: CAI14980.1. Sequence problems.
CH471093 Genomic DNA. Translation: EAW80509.1.
CH471093 Genomic DNA. Translation: EAW80510.1.
AL079278 mRNA. Translation: CAB45153.1.
AJ005670 mRNA. Translation: CAA06666.1. Different initiation.
BC021219 mRNA. Translation: AAH21219.2.
RefSeqNP_004383.4. NM_004392.6. [Q9UI36-4]
NP_542937.3. NM_080759.5. [Q9UI36-2]
NP_542938.3. NM_080760.5. [Q9UI36-3]
UniGeneHs.129452.

3D structure databases

PDBe
RCSB-PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
1L8RX-ray1.65A/B186-284[»]
ProteinModelPortalQ9UI36.
SMRQ9UI36. Positions 186-284.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid107972. 11 interactions.
IntActQ9UI36. 6 interactions.

PTM databases

PhosphoSiteQ9UI36.

Polymorphism databases

DMDM519668677.

Proteomic databases

MaxQBQ9UI36.
PaxDbQ9UI36.
PRIDEQ9UI36.

Protocols and materials databases

DNASU1602.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000305425; ENSP00000304994; ENSG00000165659. [Q9UI36-2]
ENST00000313174; ENSP00000318506; ENSG00000165659. [Q9UI36-3]
ENST00000354591; ENSP00000346604; ENSG00000165659. [Q9UI36-4]
ENST00000359684; ENSP00000352712; ENSG00000165659. [Q9UI36-1]
GeneID1602.
KEGGhsa:1602.
UCSCuc021rkj.1. human. [Q9UI36-2]

Organism-specific databases

CTD1602.
GeneCardsGC13M072012.
H-InvDBHIX0025348.
HGNCHGNC:2663. DACH1.
HPAHPA012672.
MIM603803. gene.
neXtProtNX_Q9UI36.
PharmGKBPA27134.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG279124.
HOVERGENHBG065810.
InParanoidQ9UI36.
OMAFLKTTVM.
OrthoDBEOG7ZKSCN.
TreeFamTF316697.

Gene expression databases

ArrayExpressQ9UI36.
BgeeQ9UI36.
GenevestigatorQ9UI36.

Family and domain databases

Gene3D3.10.260.20. 1 hit.
InterProIPR009061. DNA-bd_dom_put.
IPR003380. Transform_Ski.
[Graphical view]
PfamPF02437. Ski_Sno. 1 hit.
[Graphical view]
SUPFAMSSF46955. SSF46955. 1 hit.
ProtoNetSearch...

Other

ChiTaRSDACH1. human.
EvolutionaryTraceQ9UI36.
GeneWikiDACH1.
GenomeRNAi1602.
NextBio6570.
PROQ9UI36.
SOURCESearch...

Entry information

Entry nameDACH1_HUMAN
AccessionPrimary (citable) accession number: Q9UI36
Secondary accession number(s): D0FY35 expand/collapse secondary AC list , D0FY36, O75523, O75687, Q5VYY3, Q5VYY4, Q96SG3, Q96SG4, Q9H524, Q9UMH4
Entry history
Integrated into UniProtKB/Swiss-Prot: March 1, 2004
Last sequence update: June 26, 2013
Last modified: July 9, 2014
This is version 130 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human chromosome 13

Human chromosome 13: entries, gene names and cross-references to MIM