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Protein

Homeobox protein DLX-1

Gene

DLX1

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

HGNCiHGNC:2914. DLX1.

Subcellular locationi

GO - Cellular componenti

  • nucleus Source: UniProtKB

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

EPDiP56177.
PaxDbiP56177.
PeptideAtlasiP56177.
PRIDEiP56177.

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.
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.
GeneTreeiENSGT00870000136368.
HOGENOMiHOG000231941.
HOVERGENiHBG005493.
InParanoidiP56177.
KOiK09314.
OMAiEMTMTTI.
OrthoDBiEOG091G0P17.
PhylomeDBiP56177.
TreeFamiTF315720.

Family and domain databases

InterProiView protein in InterPro
IPR009057. Homeobox-like.
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

Cross-referencesi

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.

3D structure databases

ProteinModelPortaliP56177.
SMRiP56177.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

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

PTM databases

iPTMnetiP56177.
PhosphoSitePlusiP56177.

Polymorphism and mutation databases

BioMutaiDLX1.
DMDMi116241335.

Proteomic databases

EPDiP56177.
PaxDbiP56177.
PeptideAtlasiP56177.
PRIDEiP56177.

Protocols and materials databases

DNASUi1745.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi1745.
DisGeNETi1745.
GeneCardsiDLX1.
HGNCiHGNC:2914. DLX1.
HPAiHPA035666.
HPA045884.
MIMi600029. gene.
neXtProtiNX_P56177.
OpenTargetsiENSG00000144355.
PharmGKBiPA27369.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0850. Eukaryota.
ENOG410ZHZR. LUCA.
GeneTreeiENSGT00870000136368.
HOGENOMiHOG000231941.
HOVERGENiHBG005493.
InParanoidiP56177.
KOiK09314.
OMAiEMTMTTI.
OrthoDBiEOG091G0P17.
PhylomeDBiP56177.
TreeFamiTF315720.

Miscellaneous databases

GeneWikiiDLX1.
GenomeRNAii1745.
PROiPR:P56177.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000144355.
CleanExiHS_DLX1.
ExpressionAtlasiP56177. baseline and differential.
GenevisibleiP56177. HS.

Family and domain databases

InterProiView protein in InterPro
IPR009057. Homeobox-like.
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.
ProtoNetiSearch...

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: May 10, 2017
This is version 149 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

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.