InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: DLX3

Summary

InnateDB Protein

IDBP-380890.4

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

DLX3

Protein Name

distal-less homeobox 3

Synonyms

AI4; TDO;

Species

Homo sapiens

Ensembl Protein

ENSP00000389870

InnateDB Gene

IDBG-57980 (DLX3)

Protein Structure

UniProt Annotation

Function

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

Subcellular Localization

Nucleus {ECO:0000255PROSITE- ProRule:PRU00108}.

Disease Associations

Trichodentoosseous syndrome (TDO) [MIM:190320]: An autosomal dominant disease characterized by curly kinky hair at birth, enamel hypoplasia, taurodontism, thickening of cortical bones and variable expression of craniofacial morphology. {ECO:0000269PubMed:9467018}. Note=The disease is caused by mutations affecting the gene represented in this entry.Amelogenesis imperfecta 4 (AI4) [MIM:104510]: An autosomal dominant defect of enamel formation associated with enlarged pulp chambers. Enamel is thin, teeth are small and widely spaced. {ECO:0000269PubMed:15666299}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 12 experimentally validated interaction(s) in this database.

Experimentally validated
Total	12 [view]
Protein-Protein	2 [view]
Protein-DNA	10 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0000976	transcription regulatory region sequence-specific DNA binding
GO:0001077	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
GO:0003677	DNA binding
GO:0003682	chromatin binding
GO:0003700	sequence-specific DNA binding transcription factor activity

Biological Process

GO:0001568	blood vessel development
GO:0001890	placenta development
GO:0042475	odontogenesis of dentin-containing tooth
GO:0045944	positive regulation of transcription from RNA polymerase II promoter
GO:0071895	odontoblast differentiation

Cellular Component

GO:0005634

nucleus

Protein Structure and Domains

PDB ID

InterPro

IPR000047 Helix-turn-helix motif
IPR001356 Homeobox domain
IPR009057 Homeodomain-like
IPR020479 Homeodomain, metazoa
IPR022135 Distal-less-like homeobox protein, N-terminal domain

PFAM

PF00046
PF12413

PRINTS

PR00031
PR00024

PIRSF

SMART

SM00389

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt