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Protein

Dachshund homolog 1

Gene

DACH1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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

Complete GO annotation...

Keywords - Molecular functioni

Activator, Developmental protein, Repressor

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

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

HGNCiHGNC:2663. DACH1.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

DisGeNETi1602.
PharmGKBiPA27134.

Polymorphism and mutation databases

BioMutaiDACH1.
DMDMi519668677.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000955971 – 760Dachshund homolog 1Add BLAST760

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei493PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9UI36.
PeptideAtlasiQ9UI36.
PRIDEiQ9UI36.

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

BgeeiENSG00000165659.
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

WithEntry#Exp.IntActNotes
AHCYL1O438659EBI-10186082,EBI-2371423
FGF12P613283EBI-10186082,EBI-6657662
MMTAG2Q9BU763EBI-10186082,EBI-742459
NAGKQ9UJ705EBI-10186082,EBI-372578
NCOR1O753762EBI-347111,EBI-347233
PPIGQ134273EBI-10186082,EBI-396072
RNF14Q9UBS85EBI-10186082,EBI-2130308
SMAD4Q134853EBI-347111,EBI-347263
U2AF2P263683EBI-10186082,EBI-742339
ZCCHC10Q8TBK63EBI-10186082,EBI-597063

Protein-protein interaction databases

BioGridi107972. 30 interactors.
IntActiQ9UI36. 16 interactors.

Structurei

Secondary structure

1760
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi186 – 188Combined sources3
Beta strandi191 – 195Combined sources5
Beta strandi198 – 205Combined sources8
Beta strandi208 – 212Combined sources5
Helixi213 – 220Combined sources8
Turni221 – 225Combined sources5
Helixi228 – 237Combined sources10
Helixi247 – 255Combined sources9
Beta strandi267 – 270Combined sources4
Helixi271 – 282Combined sources12

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1L8RX-ray1.65A/B186-284[»]
ProteinModelPortaliQ9UI36.
SMRiQ9UI36.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ9UI36.

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni191 – 386Interaction with SIX6 and HDAC3By similarityAdd BLAST196
Regioni191 – 277DACHbox-NAdd BLAST87
Regioni618 – 698DACHbox-CAdd BLAST81
Regioni629 – 708Interaction with SIN3ABy similarityAdd BLAST80

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili632 – 720Sequence analysisAdd BLAST89

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi61 – 68Poly-Ala8
Compositional biasi74 – 89Poly-GlyAdd BLAST16
Compositional biasi92 – 103Poly-GlyAdd BLAST12
Compositional biasi116 – 123Poly-Gly8
Compositional biasi142 – 165Poly-SerAdd BLAST24
Compositional biasi327 – 335Poly-Ala9
Compositional biasi469 – 472Poly-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

HOGENOMiHOG000293309.
HOVERGENiHBG065810.
InParanoidiQ9UI36.
TreeFamiTF316697.

Family and domain databases

Gene3Di3.10.260.20. 1 hit.
InterProiIPR009061. DNA-bd_dom_put.
IPR003380. Transform_Ski.
[Graphical view]
PfamiPF02437. Ski_Sno. 1 hit.
[Graphical view]
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.
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 GGGSGGGGGS SGNGGGGGGG
110 120 130 140 150
GGGSNCNPNL AAASNGSGGG GGGISAGGGV ASSTPINAST GSSSSSSSSS
160 170 180 190 200
SSSSSSSSSS SSSSSCGPLP GKPVYSTPSP VENTPQNNEC KMVDLRGAKV
210 220 230 240 250
ASFTVEGCEL ICLPQAFDLF LKHLVGGLHT VYTKLKRLEI TPVVCNVEQV
260 270 280 290 300
RILRGLGAIQ PGVNRCKLIS RKDFETLYND CTNASSRPGR PPKRTQSVTS
310 320 330 340 350
PENSHIMPHS VPGLMSPGII PPTGLTAAAA AAAAATNAAI AEAMKVKKIK
360 370 380 390 400
LEAMSNYHAS NNQHGADSEN GDMNSSVGSS DGSWDKETLP SSPSQGPQAS
410 420 430 440 450
ITHPRMPGAR SLPLSHPLNH LQQSHLLPNG LELPFMMMPH PLIPVSLPPA
460 470 480 490 500
SVTMAMSQMN HLSTIANMAA AAQVQSPPSR VETSVIKERV PDSPSPAPSL
510 520 530 540 550
EEGRRPGSHP SSHRSSSVSS SPARTESSSD RIPVHQNGLS MNQMLMGLSP
560 570 580 590 600
NVLPGPKEGD LAGHDMGHES KRMHIEKDET PLSTPTARDS LDKLSLTGHG
610 620 630 640 650
QPLPPGFPSP FLFPDGLSSI ETLLTNIQGL LKVAIDNARA QEKQVQLEKT
660 670 680 690 700
ELKMDFLRER ELRETLEKQL AMEQKNRAIV QKRLKKEKKA KRKLQEALEF
710 720 730 740 750
ETKRREQAEQ TLKQAASTDS LRVLNDSLTP EIEADRSGGR TDAERTIQDG
760
RLYLKTTVMY
Note: Derived from EST data. No experimental confirmation available.
Length:760
Mass (Da):78,676
Last modified:June 26, 2013 - v3
Checksum:i534B05FE6A142369
GO
Isoform 2 (identifier: Q9UI36-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     378-429: Missing.

Note: Major.
Show »
Length:708
Mass (Da):73,144
Checksum:i2AE25D9115836AED
GO
Isoform 3 (identifier: Q9UI36-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     378-429: Missing.
     430-577: Missing.

Show »
Length:560
Mass (Da):57,376
Checksum:iDE656EACFAFEE3A8
GO
Isoform 4 (identifier: Q9UI36-4) [UniParc]FASTAAdd to basket

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

Show »
Length:506
Mass (Da):52,005
Checksum:i6B19D491C4E0A65F
GO

Sequence cautioni

The sequence CAA06666 differs from that shown. Reason: Erroneous initiation.Curated
The sequence CAC12840 differs from that shown. Reason: Erroneous gene model prediction.Curated
The sequence CAH73005 differs from that shown. Reason: Erroneous gene model prediction.Curated
The sequence CAH73006 differs from that shown. Reason: Erroneous gene model prediction.Curated
The sequence CAH73303 differs from that shown. Reason: Erroneous gene model prediction.Curated
The sequence CAH73304 differs from that shown. Reason: Erroneous gene model prediction.Curated
The sequence CAI14979 differs from that shown. Reason: Erroneous gene model prediction.Curated
The sequence CAI14980 differs from that shown. Reason: Erroneous gene model prediction.Curated
The sequence CAI16673 differs from that shown. Reason: Erroneous gene model prediction.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti81 – 82Missing in AAF01351 (PubMed:10502110).Curated2
Sequence conflicti81 – 82Missing in AAL08487 (PubMed:11543628).Curated2

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_009486324 – 577Missing in isoform 4. CuratedAdd BLAST254
Alternative sequenceiVSP_009872378 – 429Missing in isoform 2 and isoform 3. 5 PublicationsAdd BLAST52
Alternative sequenceiVSP_009873430 – 577Missing 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
, AL139186, AL163542, AL354995 Genomic DNA. Translation: CAH73303.1. Sequence problems.
AL138698
, AL139186, AL163542, AL354995 Genomic DNA. Translation: CAH73304.1. Sequence problems.
AL139186
, AL138698, AL163542, AL354995 Genomic DNA. Translation: CAC12840.2. Sequence problems.
AL139186
, AL138698, AL163542, AL354995 Genomic DNA. Translation: CAI16673.1. Sequence problems.
AL163542
, AL138698, AL139186, AL354995 Genomic DNA. Translation: CAH73005.1. Sequence problems.
AL163542
, AL138698, AL139186, AL354995 Genomic DNA. Translation: CAH73006.1. Sequence problems.
AL354995
, AL138698, AL139186, AL163542 Genomic DNA. Translation: CAI14979.1. Sequence problems.
AL354995
, 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.
RefSeqiNP_004383.4. NM_004392.6.
NP_542937.3. NM_080759.5.
NP_542938.3. NM_080760.5.
UniGeneiHs.129452.

Genome annotation databases

EnsembliENST00000613252; ENSP00000482245; ENSG00000276644.
GeneIDi1602.
KEGGihsa:1602.
UCSCiuc058xki.1. human. [Q9UI36-1]

Keywords - Coding sequence diversityi

Alternative splicing

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
, AL139186, AL163542, AL354995 Genomic DNA. Translation: CAH73303.1. Sequence problems.
AL138698
, AL139186, AL163542, AL354995 Genomic DNA. Translation: CAH73304.1. Sequence problems.
AL139186
, AL138698, AL163542, AL354995 Genomic DNA. Translation: CAC12840.2. Sequence problems.
AL139186
, AL138698, AL163542, AL354995 Genomic DNA. Translation: CAI16673.1. Sequence problems.
AL163542
, AL138698, AL139186, AL354995 Genomic DNA. Translation: CAH73005.1. Sequence problems.
AL163542
, AL138698, AL139186, AL354995 Genomic DNA. Translation: CAH73006.1. Sequence problems.
AL354995
, AL138698, AL139186, AL163542 Genomic DNA. Translation: CAI14979.1. Sequence problems.
AL354995
, 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.
RefSeqiNP_004383.4. NM_004392.6.
NP_542937.3. NM_080759.5.
NP_542938.3. NM_080760.5.
UniGeneiHs.129452.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1L8RX-ray1.65A/B186-284[»]
ProteinModelPortaliQ9UI36.
SMRiQ9UI36.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi107972. 30 interactors.
IntActiQ9UI36. 16 interactors.

PTM databases

iPTMnetiQ9UI36.
PhosphoSitePlusiQ9UI36.

Polymorphism and mutation databases

BioMutaiDACH1.
DMDMi519668677.

Proteomic databases

EPDiQ9UI36.
PeptideAtlasiQ9UI36.
PRIDEiQ9UI36.

Protocols and materials databases

DNASUi1602.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000613252; ENSP00000482245; ENSG00000276644.
GeneIDi1602.
KEGGihsa:1602.
UCSCiuc058xki.1. human. [Q9UI36-1]

Organism-specific databases

CTDi1602.
DisGeNETi1602.
GeneCardsiDACH1.
H-InvDBHIX0025348.
HGNCiHGNC:2663. DACH1.
HPAiHPA012672.
MIMi603803. gene.
neXtProtiNX_Q9UI36.
PharmGKBiPA27134.
GenAtlasiSearch...

Phylogenomic databases

HOGENOMiHOG000293309.
HOVERGENiHBG065810.
InParanoidiQ9UI36.
TreeFamiTF316697.

Enzyme and pathway databases

SIGNORiQ9UI36.

Miscellaneous databases

ChiTaRSiDACH1. human.
EvolutionaryTraceiQ9UI36.
GeneWikiiDACH1.
GenomeRNAii1602.
PROiQ9UI36.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000165659.
ExpressionAtlasiQ9UI36. baseline and differential.
GenevisibleiQ9UI36. HS.

Family and domain databases

Gene3Di3.10.260.20. 1 hit.
InterProiIPR009061. DNA-bd_dom_put.
IPR003380. Transform_Ski.
[Graphical view]
PfamiPF02437. Ski_Sno. 1 hit.
[Graphical view]
SUPFAMiSSF46955. SSF46955. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiDACH1_HUMAN
AccessioniPrimary (citable) accession number: Q9UI36
Secondary accession number(s): D0FY35
, D0FY36, O75523, O75687, Q5VYY3, Q5VYY4, Q96SG3, Q96SG4, Q9H524, Q9UMH4
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 1, 2004
Last sequence update: June 26, 2013
Last modified: November 30, 2016
This is version 155 of the entry and version 3 of the sequence. [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 chromosome 13
    Human chromosome 13: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  4. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.