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Protein

Dachshund homolog 1

Gene

DACH1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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).By similarity1 Publication

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionActivator, Developmental protein, DNA-binding, Repressor
Biological processTranscription, Transcription regulation

Enzyme and pathway databases

SIGNORiQ9UI36

Names & Taxonomyi

Protein namesi
Recommended name:
Dachshund homolog 1
Short name:
Dach1
Gene namesi
Name:DACH1
Synonyms:DACH
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 13

Organism-specific databases

EuPathDBiHostDB:ENSG00000276644.4
HGNCiHGNC:2663 DACH1
MIMi603803 gene
neXtProtiNX_Q9UI36

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

DisGeNETi1602
OpenTargetsiENSG00000276644
PharmGKBiPA27134

Polymorphism and mutation databases

BioMutaiDACH1
DMDMi519668677

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000955971 – 758Dachshund homolog 1Add BLAST758

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei491PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9UI36
PeptideAtlasiQ9UI36
PRIDEiQ9UI36
ProteomicsDBi84464
84465 [Q9UI36-2]
84466 [Q9UI36-3]
84467 [Q9UI36-4]

PTM databases

iPTMnetiQ9UI36
PhosphoSitePlusiQ9UI36

Expressioni

Tissue specificityi

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.1 Publication

Gene expression databases

BgeeiENSG00000276644 Expressed in 184 organ(s), highest expression level in metanephros
ExpressionAtlasiQ9UI36 baseline and differential
GenevisibleiQ9UI36 HS

Organism-specific databases

HPAiHPA012672

Interactioni

Subunit structurei

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.By similarity1 Publication

Binary interactionsi

Protein-protein interaction databases

BioGridi107972, 32 interactors
IntActiQ9UI36, 17 interactors
MINTiQ9UI36

Structurei

Secondary structure

1758
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliQ9UI36
SMRiQ9UI36
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ9UI36

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni189 – 384Interaction with SIX6 and HDAC3By similarityAdd BLAST196
Regioni189 – 275DACHbox-NAdd BLAST87
Regioni616 – 696DACHbox-CAdd BLAST81
Regioni627 – 706Interaction with SIN3ABy similarityAdd BLAST80

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili630 – 718Sequence analysisAdd BLAST89

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi61 – 68Poly-Ala8
Compositional biasi74 – 87Poly-GlyAdd BLAST14
Compositional biasi90 – 101Poly-GlyAdd BLAST12
Compositional biasi114 – 121Poly-Gly8
Compositional biasi140 – 163Poly-SerAdd BLAST24
Compositional biasi325 – 333Poly-Ala9
Compositional biasi467 – 470Poly-Ala4

Domaini

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

Sequence similaritiesi

Belongs to the DACH/dachshund family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

GeneTreeiENSGT00390000001134
HOGENOMiHOG000293309
HOVERGENiHBG065810
InParanoidiQ9UI36
OMAiHNGLSMN
OrthoDBiEOG091G06DV
TreeFamiTF316697

Family and domain databases

Gene3Di3.10.260.20, 1 hit
InterProiView protein in InterPro
IPR009061 DNA-bd_dom_put_sf
IPR003380 SKI/SNO/DAC
IPR037000 Ski_DNA-bd_sf
PfamiView protein in Pfam
PF02437 Ski_Sno, 1 hit
SUPFAMiSSF46955 SSF46955, 1 hit

Sequences (4+)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket
Note: Additional isoforms seem to exist.

This entry has 4 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9UI36-1) [UniParc]FASTAAdd to basket

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.

« Hide
        10         20         30         40         50
MAVPAALIPP TQLVPPQPPI STSASSSGTT TSTSSATSSP APSIGPPASS
60 70 80 90 100
GPTLFRPEPI ASAAAAAATV TSTGGGGGGG GSGGGGGSSG NGGGGGGGGG
110 120 130 140 150
GSNCNPNLAA ASNGSGGGGG GISAGGGVAS STPINASTGS SSSSSSSSSS
160 170 180 190 200
SSSSSSSSSS SSSCGPLPGK PVYSTPSPVE NTPQNNECKM VDLRGAKVAS
210 220 230 240 250
FTVEGCELIC LPQAFDLFLK HLVGGLHTVY TKLKRLEITP VVCNVEQVRI
260 270 280 290 300
LRGLGAIQPG VNRCKLISRK DFETLYNDCT NASSRPGRPP KRTQSVTSPE
310 320 330 340 350
NSHIMPHSVP GLMSPGIIPP TGLTAAAAAA AAATNAAIAE AMKVKKIKLE
360 370 380 390 400
AMSNYHASNN QHGADSENGD MNSSVGSSDG SWDKETLPSS PSQGPQASIT
410 420 430 440 450
HPRMPGARSL PLSHPLNHLQ QSHLLPNGLE LPFMMMPHPL IPVSLPPASV
460 470 480 490 500
TMAMSQMNHL STIANMAAAA QVQSPPSRVE TSVIKERVPD SPSPAPSLEE
510 520 530 540 550
GRRPGSHPSS HRSSSVSSSP ARTESSSDRI PVHQNGLSMN QMLMGLSPNV
560 570 580 590 600
LPGPKEGDLA GHDMGHESKR MHIEKDETPL STPTARDSLD KLSLTGHGQP
610 620 630 640 650
LPPGFPSPFL FPDGLSSIET LLTNIQGLLK VAIDNARAQE KQVQLEKTEL
660 670 680 690 700
KMDFLREREL RETLEKQLAM EQKNRAIVQK RLKKEKKAKR KLQEALEFET
710 720 730 740 750
KRREQAEQTL KQAASTDSLR VLNDSLTPEI EADRSGGRTD AERTIQDGRL

YLKTTVMY
Note: Derived from EST data. No experimental confirmation available.
Length:758
Mass (Da):78,562
Last modified:September 12, 2018 - v4
Checksum:iDFB5054D7EC5FF11
GO
Isoform 2 (identifier: Q9UI36-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     376-427: Missing.

Note: Major.
Show »
Length:706
Mass (Da):73,030
Checksum:iB9D6BA5058CC23DF
GO
Isoform 3 (identifier: Q9UI36-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     376-427: Missing.
     428-575: Missing.

Show »
Length:558
Mass (Da):57,262
Checksum:i2671E7C3B8906122
GO
Isoform 4 (identifier: Q9UI36-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     322-575: Missing.

Show »
Length:504
Mass (Da):51,891
Checksum:iD5B52F8AB9A9F05D
GO

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A087WZA7A0A087WZA7_HUMAN
Dachshund homolog 1
DACH1
558Annotation score:
A0A087WY66A0A087WY66_HUMAN
Dachshund homolog 1
DACH1
504Annotation score:

Sequence cautioni

The sequence CAA06666 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_08066273T → TGG1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_009486322 – 575Missing in isoform 4. CuratedAdd BLAST254
Alternative sequenceiVSP_009872376 – 427Missing in isoform 2 and isoform 3. 5 PublicationsAdd BLAST52
Alternative sequenceiVSP_009873428 – 575Missing in isoform 3. CuratedAdd BLAST148

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF102546 mRNA Translation: AAF01351.1
AF069509 mRNA Translation: AAC33466.1
AF356492 mRNA Translation: AAL08487.1
AL138698 Genomic DNA No translation available.
AL139186 Genomic DNA No translation available.
AL163542 Genomic DNA No translation available.
AL354995 Genomic DNA No translation available.
AMYH02028239 Genomic DNA No translation available.
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
RefSeqiNP_004383.4, NM_004392.6
NP_542937.3, NM_080759.5
NP_542938.3, NM_080760.5
XP_011533241.1, XM_011534939.2
UniGeneiHs.129452

Genome annotation databases

EnsembliENST00000611519; ENSP00000482493; ENSG00000276644 [Q9UI36-3]
ENST00000613252; ENSP00000482245; ENSG00000276644 [Q9UI36-2]
ENST00000619232; ENSP00000482797; ENSG00000276644 [Q9UI36-1]
ENST00000620444; ENSP00000481551; ENSG00000276644 [Q9UI36-4]
GeneIDi1602
KEGGihsa:1602
UCSCiuc058xki.1 human [Q9UI36-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF102546 mRNA Translation: AAF01351.1
AF069509 mRNA Translation: AAC33466.1
AF356492 mRNA Translation: AAL08487.1
AL138698 Genomic DNA No translation available.
AL139186 Genomic DNA No translation available.
AL163542 Genomic DNA No translation available.
AL354995 Genomic DNA No translation available.
AMYH02028239 Genomic DNA No translation available.
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
RefSeqiNP_004383.4, NM_004392.6
NP_542937.3, NM_080759.5
NP_542938.3, NM_080760.5
XP_011533241.1, XM_011534939.2
UniGeneiHs.129452

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1L8RX-ray1.65A/B184-282[»]
ProteinModelPortaliQ9UI36
SMRiQ9UI36
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi107972, 32 interactors
IntActiQ9UI36, 17 interactors
MINTiQ9UI36

PTM databases

iPTMnetiQ9UI36
PhosphoSitePlusiQ9UI36

Polymorphism and mutation databases

BioMutaiDACH1
DMDMi519668677

Proteomic databases

EPDiQ9UI36
PeptideAtlasiQ9UI36
PRIDEiQ9UI36
ProteomicsDBi84464
84465 [Q9UI36-2]
84466 [Q9UI36-3]
84467 [Q9UI36-4]

Protocols and materials databases

DNASUi1602
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000611519; ENSP00000482493; ENSG00000276644 [Q9UI36-3]
ENST00000613252; ENSP00000482245; ENSG00000276644 [Q9UI36-2]
ENST00000619232; ENSP00000482797; ENSG00000276644 [Q9UI36-1]
ENST00000620444; ENSP00000481551; ENSG00000276644 [Q9UI36-4]
GeneIDi1602
KEGGihsa:1602
UCSCiuc058xki.1 human [Q9UI36-1]

Organism-specific databases

CTDi1602
DisGeNETi1602
EuPathDBiHostDB:ENSG00000276644.4
GeneCardsiDACH1
H-InvDBiHIX0025348
HGNCiHGNC:2663 DACH1
HPAiHPA012672
MIMi603803 gene
neXtProtiNX_Q9UI36
OpenTargetsiENSG00000276644
PharmGKBiPA27134
GenAtlasiSearch...

Phylogenomic databases

GeneTreeiENSGT00390000001134
HOGENOMiHOG000293309
HOVERGENiHBG065810
InParanoidiQ9UI36
OMAiHNGLSMN
OrthoDBiEOG091G06DV
TreeFamiTF316697

Enzyme and pathway databases

SIGNORiQ9UI36

Miscellaneous databases

ChiTaRSiDACH1 human
EvolutionaryTraceiQ9UI36
GeneWikiiDACH1
GenomeRNAii1602
PROiPR:Q9UI36
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000276644 Expressed in 184 organ(s), highest expression level in metanephros
ExpressionAtlasiQ9UI36 baseline and differential
GenevisibleiQ9UI36 HS

Family and domain databases

Gene3Di3.10.260.20, 1 hit
InterProiView protein in InterPro
IPR009061 DNA-bd_dom_put_sf
IPR003380 SKI/SNO/DAC
IPR037000 Ski_DNA-bd_sf
PfamiView protein in Pfam
PF02437 Ski_Sno, 1 hit
SUPFAMiSSF46955 SSF46955, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiDACH1_HUMAN
AccessioniPrimary (citable) accession number: Q9UI36
Secondary accession number(s): A0A087WZP2
, D0FY35, D0FY36, O75523, O75687, Q5VYY3, Q5VYY4, Q96SG3, Q96SG4, Q9H524, Q9UMH4
Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 1, 2004
Last sequence update: September 12, 2018
Last modified: October 10, 2018
This is version 165 of the entry and version 4 of the sequence. See complete history.
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. SIMILARITY comments
    Index of protein domains and families
  3. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  4. Human chromosome 13
    Human chromosome 13: entries, gene names and cross-references to MIM
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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