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Protein

Homeobox protein DLX-1

Gene

DLX1

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

Functioni

Plays a role as a transcriptional activator or repressor (PubMed:14671321). Inhibits several cytokine signaling pathways, such as TGFB1, activin-A/INHBA and BMP4 by interfering with the transcriptional stimulatory activity of transcription factors, such as MSX2, FAST2, SMAD2 and SMAD3 during hematopoietic cell differentiation (PubMed:14671321). Plays a role in terminal differentiation of interneurons, such as amacrine and bipolar cells in the developing retina (By similarity). Likely to play a regulatory role in the development of the ventral forebrain (By similarity). May play a role in craniofacial patterning and morphogenesis and may be involved in the early development of diencephalic subdivisions (By similarity).By similarity1 Publication

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
DNA bindingi128 – 187HomeoboxPROSITE-ProRule annotationAdd BLAST60

GO - Molecular functioni

GO - Biological processi

Keywordsi

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

Names & Taxonomyi

Protein namesi
Recommended name:
Homeobox protein DLX-1
Gene namesi
Name:DLX1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

EuPathDBiHostDB:ENSG00000144355.14
HGNCiHGNC:2914 DLX1
MIMi600029 gene
neXtProtiNX_P56177

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

DisGeNETi1745
OpenTargetsiENSG00000144355
PharmGKBiPA27369

Polymorphism and mutation databases

BioMutaiDLX1
DMDMi116241335

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000490201 – 255Homeobox protein DLX-1Add BLAST255

Proteomic databases

PaxDbiP56177
PeptideAtlasiP56177
PRIDEiP56177
ProteomicsDBi56890
56891 [P56177-2]

PTM databases

iPTMnetiP56177
PhosphoSitePlusiP56177

Expressioni

Tissue specificityi

Expressed in hematopoietic cell lines.1 Publication

Gene expression databases

BgeeiENSG00000144355
CleanExiHS_DLX1
ExpressionAtlasiP56177 baseline and differential
GenevisibleiP56177 HS

Organism-specific databases

HPAiHPA035666
HPA045884

Interactioni

Subunit structurei

Interacts with SMAD4 (via homeobox DNA-binding domain) (PubMed:14671321). Interacts (via homeobox DNA-binding domain) with POU4F2; this interaction suppresses DLX1-mediated transcriptional activity in postnatal retina and enhances retinal ganglion cell (RGC) differentiation (By similarity).By similarity1 Publication

Protein-protein interaction databases

BioGridi108089, 2 interactors
IntActiP56177, 1 interactor
MINTiP56177
STRINGi9606.ENSP00000354478

Structurei

3D structure databases

ProteinModelPortaliP56177
SMRiP56177
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domaini

The homeobox DNA-binding domain is necessary for its nuclear localization, transcriptional and erythroid differentiation activities (PubMed:14671321).1 Publication

Sequence similaritiesi

Belongs to the distal-less homeobox family.Curated

Keywords - Domaini

Homeobox

Phylogenomic databases

eggNOGiKOG0850 Eukaryota
ENOG410ZHZR LUCA
GeneTreeiENSGT00920000148979
HOGENOMiHOG000231941
HOVERGENiHBG005493
InParanoidiP56177
KOiK09314
OMAiEMTMTTI
OrthoDBiEOG091G0P17
PhylomeDBiP56177
TreeFamiTF315720

Family and domain databases

CDDicd00086 homeodomain, 1 hit
InterProiView protein in InterPro
IPR009057 Homeobox-like_sf
IPR017970 Homeobox_CS
IPR001356 Homeobox_dom
IPR020479 Homeobox_metazoa
IPR000047 HTH_motif
PfamiView protein in Pfam
PF00046 Homeobox, 1 hit
PRINTSiPR00024 HOMEOBOX
PR00031 HTHREPRESSR
SMARTiView protein in SMART
SM00389 HOX, 1 hit
SUPFAMiSSF46689 SSF46689, 1 hit
PROSITEiView protein in PROSITE
PS00027 HOMEOBOX_1, 1 hit
PS50071 HOMEOBOX_2, 1 hit

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: P56177-1) [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
MTMTTMPESL NSPVSGKAVF MEFGPPNQQM SPSPMSHGHY SMHCLHSAGH
60 70 80 90 100
SQPDGAYSSA SSFSRPLGYP YVNSVSSHAS SPYISSVQSY PGSASLAQSR
110 120 130 140 150
LEDPGADSEK STVVEGGEVR FNGKGKKIRK PRTIYSSLQL QALNRRFQQT
160 170 180 190 200
QYLALPERAE LAASLGLTQT QVKIWFQNKR SKFKKLMKQG GAALEGSALA
210 220 230 240 250
NGRALSAGSP PVPPGWNPNS SSGKGSGGNA GSYIPSYTSW YPSAHQEAMQ

QPQLM
Length:255
Mass (Da):27,320
Last modified:October 17, 2006 - v3
Checksum:i99B468315FBFE7BD
GO
Isoform 2 (identifier: P56177-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     106-255: ADSEKSTVVE...QEAMQQPQLM → QDLVPKQAIQVQEADEAGWGGSGG

Note: No experimental confirmation available.
Show »
Length:129
Mass (Da):13,521
Checksum:iAABF561CA408E19E
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_028443136S → C1 PublicationCorresponds to variant dbSNP:rs17853565Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_043589106 – 255ADSEK…QPQLM → QDLVPKQAIQVQEADEAGWG GSGG in isoform 2. 1 PublicationAdd BLAST150

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY257976 mRNA Translation: AAO91939.1
AC015976 Genomic DNA No translation available.
CH471058 Genomic DNA Translation: EAX11185.1
CH471058 Genomic DNA Translation: EAX11187.1
BC036189 mRNA Translation: AAH36189.2
BC053351 mRNA Translation: AAH53351.1
CCDSiCCDS2247.2 [P56177-1]
CCDS33328.1 [P56177-2]
PIRiA53495
RefSeqiNP_001033582.1, NM_001038493.1 [P56177-2]
NP_835221.2, NM_178120.4 [P56177-1]
UniGeneiHs.407015

Genome annotation databases

EnsembliENST00000341900; ENSP00000341786; ENSG00000144355 [P56177-2]
ENST00000361725; ENSP00000354478; ENSG00000144355 [P56177-1]
GeneIDi1745
KEGGihsa:1745
UCSCiuc002uhm.4 human [P56177-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiDLX1_HUMAN
AccessioniPrimary (citable) accession number: P56177
Secondary accession number(s): D3DPD7
, Q53ZU4, Q7Z724, Q8IYB2
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: October 17, 2006
Last modified: June 20, 2018
This is version 159 of the entry and version 3 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

Complete proteome, Reference proteome

Documents

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

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