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Protein

Homeobox protein DLX-3

Gene

DLX3

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

Functioni

Likely to play a regulatory role in the development of the ventral forebrain. May play a role in craniofacial patterning and morphogenesis.

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
DNA bindingi129 – 188HomeoboxPROSITE-ProRule annotationAdd BLAST60

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionDevelopmental protein, DNA-binding

Enzyme and pathway databases

SIGNORiO60479

Names & Taxonomyi

Protein namesi
Recommended name:
Homeobox protein DLX-3
Gene namesi
Name:DLX3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

EuPathDBiHostDB:ENSG00000064195.7
HGNCiHGNC:2916 DLX3
MIMi600525 gene
neXtProtiNX_O60479

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

Involvement in diseasei

Trichodentoosseous syndrome (TDO)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant disease characterized by curly kinky hair at birth, enamel hypoplasia, taurodontism, thickening of cortical bones and variable expression of craniofacial morphology.
See also OMIM:190320
Amelogenesis imperfecta 4 (AI4)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant defect of enamel formation associated with enlarged pulp chambers. Enamel is thin, teeth are small and widely spaced.
See also OMIM:104510

Keywords - Diseasei

Amelogenesis imperfecta

Organism-specific databases

DisGeNETi1747
MalaCardsiDLX3
MIMi104510 phenotype
190320 phenotype
OpenTargetsiENSG00000064195
Orphaneti100034 Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism
3352 Tricho-dento-osseous syndrome
PharmGKBiPA27371

Polymorphism and mutation databases

BioMutaiDLX3

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000490261 – 287Homeobox protein DLX-3Add BLAST287

Proteomic databases

MaxQBiO60479
PaxDbiO60479
PeptideAtlasiO60479
PRIDEiO60479
ProteomicsDBi49421

PTM databases

iPTMnetiO60479
PhosphoSitePlusiO60479

Expressioni

Gene expression databases

BgeeiENSG00000064195 Expressed in 81 organ(s), highest expression level in skin of leg
CleanExiHS_DLX3
ExpressionAtlasiO60479 baseline and differential
GenevisibleiO60479 HS

Interactioni

Subunit structurei

Heterodimer with MEIS1.1 Publication

Binary interactionsi

Protein-protein interaction databases

BioGridi108091, 2 interactors
IntActiO60479, 5 interactors
STRINGi9606.ENSP00000389870

Structurei

Secondary structure

1287
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliO60479
SMRiO60479
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni131 – 181Interaction with DNA1 PublicationAdd BLAST51

Sequence similaritiesi

Belongs to the distal-less homeobox family.Curated

Keywords - Domaini

Homeobox

Phylogenomic databases

eggNOGiKOG0850 Eukaryota
ENOG410ZHZR LUCA
GeneTreeiENSGT00920000148979
HOGENOMiHOG000231940
HOVERGENiHBG005493
InParanoidiO60479
KOiK09315
OMAiSWYHTQN
OrthoDBiEOG091G0P17
PhylomeDBiO60479
TreeFamiTF350606

Family and domain databases

CDDicd00086 homeodomain, 1 hit
InterProiView protein in InterPro
IPR022135 Distal-less_N
IPR009057 Homeobox-like_sf
IPR017970 Homeobox_CS
IPR001356 Homeobox_dom
IPR020479 Homeobox_metazoa
IPR000047 HTH_motif
PfamiView protein in Pfam
PF12413 DLL_N, 1 hit
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

Sequence (1+)i

Sequence statusi: Complete.

This entry has 1 described isoform and 1 potential isoform that is computationally mapped.iShow all

O60479-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MSGSFDRKLS SILTDISSSL SCHAGSKDSP TLPESSVTDL GYYSAPQHDY
60 70 80 90 100
YSGQPYGQTV NPYTYHHQFN LNGLAGTGAY SPKSEYTYGA SYRQYGAYRE
110 120 130 140 150
QPLPAQDPVS VKEEPEAEVR MVNGKPKKVR KPRTIYSSYQ LAALQRRFQK
160 170 180 190 200
AQYLALPERA ELAAQLGLTQ TQVKIWFQNR RSKFKKLYKN GEVPLEHSPN
210 220 230 240 250
NSDSMACNSP PSPALWDTSS HSTPAPARSQ LPPPLPYSAS PSYLDDPTNS
260 270 280
WYHAQNLSGP HLQQQPPQPA TLHHASPGPP PNPGAVY
Length:287
Mass (Da):31,738
Last modified:August 1, 1998 - v1
Checksum:iDCA9716E51D78DD1
GO

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F8VXG1F8VXG1_HUMAN
Homeobox protein DLX-3
DLX3
167Annotation score:

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF028233 Genomic DNA Translation: AAC14397.1
AF452638 Genomic DNA Translation: AAL99504.1
AK075167 mRNA Translation: BAG52078.1
CH471109 Genomic DNA Translation: EAW94650.1
BC012361 mRNA Translation: AAH12361.1
BC028970 mRNA Translation: AAH28970.1
CCDSiCCDS11556.1
RefSeqiNP_005211.1, NM_005220.2
UniGeneiHs.134194

Genome annotation databases

EnsembliENST00000434704; ENSP00000389870; ENSG00000064195
GeneIDi1747
KEGGihsa:1747
UCSCiuc002ipy.3 human

Similar proteinsi

Entry informationi

Entry nameiDLX3_HUMAN
AccessioniPrimary (citable) accession number: O60479
Secondary accession number(s): B3KQL6
Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 15, 1998
Last sequence update: August 1, 1998
Last modified: September 12, 2018
This is version 159 of the entry and version 1 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
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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