InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: DLX5

Summary

InnateDB Protein

IDBP-28083.6

Last Modified

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

Gene Symbol

DLX5

Protein Name

distal-less homeobox 5

Synonyms

SHFM1D;

Species

Homo sapiens

Ensembl Protein

ENSP00000222598

InnateDB Gene

IDBG-28081 (DLX5)

Protein Structure

UniProt Annotation

Function

Transcriptional factor involved in bone development. Acts as an immediate early BMP-responsive transcriptional activator essential for osteoblast differentiation. Stimulates ALPL promoter activity in a RUNX2-independent manner during osteoblast differentiation. Stimulates SP7 promoter activity during osteoblast differentiation. Promotes cell proliferation by up-regulating MYC promoter activity. Involved as a positive regulator of both chondrogenesis and chondrocyte hypertrophy in the endochondral skeleton. Binds to the homeodomain-response element of the ALPL and SP7 promoter. Binds to the MYC promoter. Requires the 5'-TAATTA-3' consensus sequence for DNA-binding. {ECO:0000269PubMed:19497851}.

Subcellular Localization

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

Disease Associations

Split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive (SHFM1D) [MIM:220600]: A disease characterized by the association of split-hand/foot malformation with deafness. Split-hand/foot malformation is a limb malformation involving the central rays of the autopod and presenting with syndactyly, median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals. Some patients have been found to have mental retardation, ectodermal and craniofacial findings, and orofacial clefting. {ECO:0000269PubMed:22121204}. 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 7 experimentally validated interaction(s) in this database.
They are also associated with 9 interaction(s) predicted by orthology.

Experimentally validated
Total	7 [view]
Protein-Protein	6 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	9 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0000978	RNA polymerase II core promoter proximal 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:0005515	protein binding
GO:0044212	transcription regulatory region DNA binding
GO:0071837	HMG box domain binding

Biological Process

GO:0001501	skeletal system development
GO:0001649	osteoblast differentiation
GO:0001958	endochondral ossification
GO:0006351	transcription, DNA-templated
GO:0006355	regulation of transcription, DNA-templated
GO:0007399	nervous system development
GO:0007409	axonogenesis
GO:0007411	axon guidance
GO:0008283	cell proliferation
GO:0030326	embryonic limb morphogenesis
GO:0030509	BMP signaling pathway
GO:0030855	epithelial cell differentiation
GO:0042472	inner ear morphogenesis
GO:0043583	ear development
GO:0045669	positive regulation of osteoblast differentiation
GO:0045893	positive regulation of transcription, DNA-templated
GO:0045944	positive regulation of transcription from RNA polymerase II promoter
GO:0048646	anatomical structure formation involved in morphogenesis
GO:0050679	positive regulation of epithelial cell proliferation
GO:0060021	palate development
GO:0060166	olfactory pit development
GO:0060322	head development
GO:0060325	face morphogenesis
GO:0060349	bone morphogenesis
GO:0071773	cellular response to BMP stimulus
GO:0090263	positive regulation of canonical Wnt signaling pathway
GO:1901522	positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus

Cellular Component

GO:0000790	nuclear chromatin
GO:0005634	nucleus
GO:0005737	cytoplasm

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