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Protein

Homeobox protein DLX-3

Gene

DLX3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-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

Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Ligandi

DNA-binding

Enzyme and pathway databases

BioCyciZFISH:ENSG00000064195-MONOMER.
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

HGNCiHGNC:2916. DLX3.

Subcellular locationi

  • Nucleus PROSITE-ProRule annotation

GO - Cellular componenti

Complete GO annotation...

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.

PTM databases

iPTMnetiO60479.
PhosphoSitePlusiO60479.

Expressioni

Gene expression databases

BgeeiENSG00000064195.
CleanExiHS_DLX3.
ExpressionAtlasiO60479. baseline and differential.
GenevisibleiO60479. HS.

Organism-specific databases

HPAiHPA031164.

Interactioni

Protein-protein interaction databases

BioGridi108091. 2 interactors.
IntActiO60479. 2 interactors.
STRINGi9606.ENSP00000389870.

Structurei

Secondary structure

1287
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi138 – 141Combined sources4
Turni142 – 144Combined sources3
Helixi145 – 150Combined sources6
Helixi159 – 163Combined sources5
Turni164 – 166Combined sources3
Helixi171 – 178Combined sources8

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4XRSX-ray3.50G/I131-186[»]
ProteinModelPortaliO60479.
SMRiO60479.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the distal-less homeobox family.Curated
Contains 1 homeobox DNA-binding domain.PROSITE-ProRule annotation

Keywords - Domaini

Homeobox

Phylogenomic databases

eggNOGiKOG0850. Eukaryota.
ENOG410ZHZR. LUCA.
GeneTreeiENSGT00860000133666.
HOGENOMiHOG000231940.
HOVERGENiHBG005493.
InParanoidiO60479.
KOiK09315.
OMAiSWYHTQN.
OrthoDBiEOG091G0P17.
PhylomeDBiO60479.
TreeFamiTF350606.

Family and domain databases

Gene3Di1.10.10.60. 1 hit.
InterProiIPR022135. Distal-less_N.
IPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR020479. Homeobox_metazoa.
IPR009057. Homeodomain-like.
IPR000047. HTH_motif.
[Graphical view]
PfamiPF12413. DLL_N. 1 hit.
PF00046. Homeobox. 1 hit.
[Graphical view]
PRINTSiPR00024. HOMEOBOX.
PR00031. HTHREPRESSR.
SMARTiSM00389. HOX. 1 hit.
[Graphical view]
SUPFAMiSSF46689. SSF46689. 1 hit.
PROSITEiPS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

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

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.

Cross-referencesi

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.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4XRSX-ray3.50G/I131-186[»]
ProteinModelPortaliO60479.
SMRiO60479.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108091. 2 interactors.
IntActiO60479. 2 interactors.
STRINGi9606.ENSP00000389870.

PTM databases

iPTMnetiO60479.
PhosphoSitePlusiO60479.

Polymorphism and mutation databases

BioMutaiDLX3.

Proteomic databases

MaxQBiO60479.
PaxDbiO60479.
PeptideAtlasiO60479.
PRIDEiO60479.

Protocols and materials databases

DNASUi1747.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi1747.
DisGeNETi1747.
GeneCardsiDLX3.
HGNCiHGNC:2916. DLX3.
HPAiHPA031164.
MalaCardsiDLX3.
MIMi104510. phenotype.
190320. phenotype.
600525. gene.
neXtProtiNX_O60479.
OpenTargetsiENSG00000064195.
Orphaneti100034. Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism.
3352. Tricho-dento-osseous syndrome.
PharmGKBiPA27371.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0850. Eukaryota.
ENOG410ZHZR. LUCA.
GeneTreeiENSGT00860000133666.
HOGENOMiHOG000231940.
HOVERGENiHBG005493.
InParanoidiO60479.
KOiK09315.
OMAiSWYHTQN.
OrthoDBiEOG091G0P17.
PhylomeDBiO60479.
TreeFamiTF350606.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000064195-MONOMER.
SIGNORiO60479.

Miscellaneous databases

GeneWikiiDLX3.
DLX3_(gene).
GenomeRNAii1747.
PROiO60479.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000064195.
CleanExiHS_DLX3.
ExpressionAtlasiO60479. baseline and differential.
GenevisibleiO60479. HS.

Family and domain databases

Gene3Di1.10.10.60. 1 hit.
InterProiIPR022135. Distal-less_N.
IPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR020479. Homeobox_metazoa.
IPR009057. Homeodomain-like.
IPR000047. HTH_motif.
[Graphical view]
PfamiPF12413. DLL_N. 1 hit.
PF00046. Homeobox. 1 hit.
[Graphical view]
PRINTSiPR00024. HOMEOBOX.
PR00031. HTHREPRESSR.
SMARTiSM00389. HOX. 1 hit.
[Graphical view]
SUPFAMiSSF46689. SSF46689. 1 hit.
PROSITEiPS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiDLX3_HUMAN
AccessioniPrimary (citable) accession number: O60479
Secondary accession number(s): B3KQL6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 15, 1998
Last sequence update: August 1, 1998
Last modified: November 30, 2016
This is version 144 of the entry and version 1 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 17
    Human chromosome 17: 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.