UniProtKB - Q9UI36 (DACH1_HUMAN)
Protein
Dachshund homolog 1
Gene
DACH1
Organism
Homo sapiens (Human)
Status
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
- DNA-binding transcription factor activity, RNA polymerase II-specific Source: GO_Central
- DNA-binding transcription repressor activity, RNA polymerase II-specific Source: BHF-UCL
- RNA polymerase II cis-regulatory region sequence-specific DNA binding Source: BHF-UCL
- RNA polymerase II transcription regulatory region sequence-specific DNA binding Source: BHF-UCL
GO - Biological processi
- cell population proliferation Source: Ensembl
- development of primary female sexual characteristics Source: Ensembl
- negative regulation of cell migration Source: BHF-UCL
- negative regulation of cell proliferation involved in contact inhibition Source: Ensembl
- negative regulation of DNA biosynthetic process Source: CACAO
- negative regulation of fibroblast proliferation Source: Ensembl
- negative regulation of transcription, DNA-templated Source: CACAO
- negative regulation of transcription by competitive promoter binding Source: BHF-UCL
- negative regulation of transcription by RNA polymerase II Source: BHF-UCL
- regulation of nuclear cell cycle DNA replication Source: Ensembl
- regulation of transcription by RNA polymerase II Source: GO_Central
- respiratory gaseous exchange by respiratory system Source: Ensembl
- suckling behavior Source: Ensembl
Keywordsi
Molecular function | Activator, Developmental protein, DNA-binding, Repressor |
Biological process | Transcription, Transcription regulation |
Enzyme and pathway databases
PathwayCommonsi | Q9UI36 |
SIGNORi | Q9UI36 |
Names & Taxonomyi
Protein namesi | Recommended name: Dachshund homolog 1Short name: Dach1 |
Gene namesi | Name:DACH1 Synonyms:DACH |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:2663, DACH1 |
MIMi | 603803, gene |
neXtProti | NX_Q9UI36 |
VEuPathDBi | HostDB:ENSG00000276644.4 |
Subcellular locationi
Nucleus
- Nucleus 1 Publication
Nucleus
- nucleus Source: GO_Central
Other locations
- cytoplasm Source: Ensembl
- transcription regulator complex Source: GO_Central
Keywords - Cellular componenti
NucleusPathology & Biotechi
Organism-specific databases
DisGeNETi | 1602 |
MalaCardsi | DACH1 |
OpenTargetsi | ENSG00000276644 |
PharmGKBi | PA27134 |
Miscellaneous databases
Pharosi | Q9UI36, Tbio |
Genetic variation databases
BioMutai | DACH1 |
DMDMi | 519668677 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000095597 | 1 – 758 | Dachshund homolog 1Add BLAST | 758 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 491 | PhosphoserineBy similarity | 1 |
Keywords - PTMi
PhosphoproteinProteomic databases
EPDi | Q9UI36 |
jPOSTi | Q9UI36 |
MassIVEi | Q9UI36 |
MaxQBi | Q9UI36 |
PeptideAtlasi | Q9UI36 |
PRIDEi | Q9UI36 |
ProteomicsDBi | 12719 12720 84464 [Q9UI36-1] 84465 [Q9UI36-2] 84466 [Q9UI36-3] 84467 [Q9UI36-4] |
PTM databases
iPTMneti | Q9UI36 |
PhosphoSitePlusi | Q9UI36 |
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
Bgeei | ENSG00000276644, Expressed in metanephros and 198 other tissues |
ExpressionAtlasi | Q9UI36, baseline and differential |
Genevisiblei | Q9UI36, HS |
Organism-specific databases
HPAi | ENSG00000276644, Low tissue specificity |
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 PublicationBinary interactionsi
Hide detailsQ9UI36
With | #Exp. | IntAct |
---|---|---|
NAGK [Q9UJ70] | 3 | EBI-347111,EBI-372578 |
NCOR1 [O75376] | 2 | EBI-347111,EBI-347233 |
SMAD4 [Q13485] | 3 | EBI-347111,EBI-347263 |
Isoform 2 [Q9UI36-2]
Protein-protein interaction databases
BioGRIDi | 107972, 56 interactors |
IntActi | Q9UI36, 24 interactors |
MINTi | Q9UI36 |
STRINGi | 9606.ENSP00000482245 |
Miscellaneous databases
RNActi | Q9UI36, protein |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details3D structure databases
SMRi | Q9UI36 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | Q9UI36 |
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 189 – 384 | Interaction with SIX6 and HDAC3By similarityAdd BLAST | 196 | |
Regioni | 189 – 275 | DACHbox-NAdd BLAST | 87 | |
Regioni | 616 – 696 | DACHbox-CAdd BLAST | 81 | |
Regioni | 627 – 706 | Interaction with SIN3ABy similarityAdd BLAST | 80 |
Coiled coil
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Coiled coili | 630 – 718 | Sequence analysisAdd BLAST | 89 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 61 – 68 | Poly-Ala | 8 | |
Compositional biasi | 74 – 87 | Poly-GlyAdd BLAST | 14 | |
Compositional biasi | 90 – 101 | Poly-GlyAdd BLAST | 12 | |
Compositional biasi | 114 – 121 | Poly-Gly | 8 | |
Compositional biasi | 140 – 163 | Poly-SerAdd BLAST | 24 | |
Compositional biasi | 325 – 333 | Poly-Ala | 9 | |
Compositional biasi | 467 – 470 | Poly-Ala | 4 |
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 coilPhylogenomic databases
eggNOGi | KOG3915, Eukaryota |
GeneTreei | ENSGT00390000001134 |
HOGENOMi | CLU_027923_0_0_1 |
InParanoidi | Q9UI36 |
OMAi | VSHPLNH |
OrthoDBi | 429758at2759 |
PhylomeDBi | Q9UI36 |
TreeFami | TF316697 |
Family and domain databases
Gene3Di | 3.10.260.20, 1 hit |
InterProi | View protein in InterPro IPR009061, DNA-bd_dom_put_sf IPR003380, SKI/SNO/DAC IPR037000, Ski_DNA-bd_sf |
Pfami | View protein in Pfam PF02437, Ski_Sno, 1 hit |
SUPFAMi | SSF46955, SSF46955, 1 hit |
s (4)i Sequence
Sequence statusi: Complete.
This entry describes 4 produced by isoformsialternative splicing. AlignAdd to basketNote: Additional isoforms seem to exist.
Isoform 1 (identifier: Q9UI36-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
Sequence cautioni
The sequence CAA06666 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_080662 | 73 | T → TGG1 Publication | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_009486 | 322 – 575 | Missing in isoform 4. CuratedAdd BLAST | 254 | |
Alternative sequenceiVSP_009872 | 376 – 427 | Missing in isoform 2 and isoform 3. 5 PublicationsAdd BLAST | 52 | |
Alternative sequenceiVSP_009873 | 428 – 575 | Missing in isoform 3. CuratedAdd BLAST | 148 |
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 |
CCDSi | CCDS41899.1 [Q9UI36-2] |
RefSeqi | NP_004383.4, NM_004392.6 [Q9UI36-4] NP_542937.3, NM_080759.5 [Q9UI36-2] NP_542938.3, NM_080760.5 [Q9UI36-3] XP_011533241.1, XM_011534939.2 |
Genome annotation databases
Ensembli | ENST00000611519; ENSP00000482493; ENSG00000276644 [Q9UI36-3] ENST00000613252; ENSP00000482245; ENSG00000276644 [Q9UI36-2] ENST00000619232; ENSP00000482797; ENSG00000276644 [Q9UI36-1] ENST00000620444; ENSP00000481551; ENSG00000276644 [Q9UI36-4] |
GeneIDi | 1602 |
KEGGi | hsa:1602 |
UCSCi | uc058xki.1, human [Q9UI36-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar 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 |
CCDSi | CCDS41899.1 [Q9UI36-2] |
RefSeqi | NP_004383.4, NM_004392.6 [Q9UI36-4] NP_542937.3, NM_080759.5 [Q9UI36-2] NP_542938.3, NM_080760.5 [Q9UI36-3] XP_011533241.1, XM_011534939.2 |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
1L8R | X-ray | 1.65 | A/B | 184-282 | [»] | |
SMRi | Q9UI36 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 107972, 56 interactors |
IntActi | Q9UI36, 24 interactors |
MINTi | Q9UI36 |
STRINGi | 9606.ENSP00000482245 |
PTM databases
iPTMneti | Q9UI36 |
PhosphoSitePlusi | Q9UI36 |
Genetic variation databases
BioMutai | DACH1 |
DMDMi | 519668677 |
Proteomic databases
EPDi | Q9UI36 |
jPOSTi | Q9UI36 |
MassIVEi | Q9UI36 |
MaxQBi | Q9UI36 |
PeptideAtlasi | Q9UI36 |
PRIDEi | Q9UI36 |
ProteomicsDBi | 12719 12720 84464 [Q9UI36-1] 84465 [Q9UI36-2] 84466 [Q9UI36-3] 84467 [Q9UI36-4] |
Protocols and materials databases
Antibodypediai | 72801, 290 antibodies |
DNASUi | 1602 |
Genome annotation databases
Ensembli | ENST00000611519; ENSP00000482493; ENSG00000276644 [Q9UI36-3] ENST00000613252; ENSP00000482245; ENSG00000276644 [Q9UI36-2] ENST00000619232; ENSP00000482797; ENSG00000276644 [Q9UI36-1] ENST00000620444; ENSP00000481551; ENSG00000276644 [Q9UI36-4] |
GeneIDi | 1602 |
KEGGi | hsa:1602 |
UCSCi | uc058xki.1, human [Q9UI36-1] |
Organism-specific databases
CTDi | 1602 |
DisGeNETi | 1602 |
GeneCardsi | DACH1 |
HGNCi | HGNC:2663, DACH1 |
HPAi | ENSG00000276644, Low tissue specificity |
MalaCardsi | DACH1 |
MIMi | 603803, gene |
neXtProti | NX_Q9UI36 |
OpenTargetsi | ENSG00000276644 |
PharmGKBi | PA27134 |
VEuPathDBi | HostDB:ENSG00000276644.4 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG3915, Eukaryota |
GeneTreei | ENSGT00390000001134 |
HOGENOMi | CLU_027923_0_0_1 |
InParanoidi | Q9UI36 |
OMAi | VSHPLNH |
OrthoDBi | 429758at2759 |
PhylomeDBi | Q9UI36 |
TreeFami | TF316697 |
Enzyme and pathway databases
PathwayCommonsi | Q9UI36 |
SIGNORi | Q9UI36 |
Miscellaneous databases
BioGRID-ORCSi | 1602, 11 hits in 987 CRISPR screens |
ChiTaRSi | DACH1, human |
EvolutionaryTracei | Q9UI36 |
GeneWikii | DACH1 |
GenomeRNAii | 1602 |
Pharosi | Q9UI36, Tbio |
PROi | PR:Q9UI36 |
RNActi | Q9UI36, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000276644, Expressed in metanephros and 198 other tissues |
ExpressionAtlasi | Q9UI36, baseline and differential |
Genevisiblei | Q9UI36, HS |
Family and domain databases
Gene3Di | 3.10.260.20, 1 hit |
InterProi | View protein in InterPro IPR009061, DNA-bd_dom_put_sf IPR003380, SKI/SNO/DAC IPR037000, Ski_DNA-bd_sf |
Pfami | View protein in Pfam PF02437, Ski_Sno, 1 hit |
SUPFAMi | SSF46955, SSF46955, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | DACH1_HUMAN | |
Accessioni | Q9UI36Primary (citable) accession number: Q9UI36 Secondary accession number(s): A0A087WZP2 Q9UMH4 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | March 1, 2004 |
Last sequence update: | September 12, 2018 | |
Last modified: | April 7, 2021 | |
This is version 184 of the entry and version 4 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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, Reference proteomeDocuments
- Human chromosome 13
Human chromosome 13: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families