Dlx5 distal-less homeobox 5 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Dlx5provided by MGI
Official Full Name: distal-less homeobox 5provided by MGI
Primary source: MGI:MGI:101926
See related: Ensembl:ENSMUSG00000029755 AllianceGenome:MGI:101926
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Summary: Enables DNA-binding transcription activator activity, RNA polymerase II-specific; HMG box domain binding activity; and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in several processes, including BMP signaling pathway; endochondral ossification; and osteoblast differentiation. Acts upstream of or within several processes, including embryonic morphogenesis; neuron differentiation; and regulation of gene expression. Located in chromatin; cytoplasm; and nucleus. Is expressed in several structures, including alimentary system; embryo ectoderm; embryo mesenchyme; nervous system; and sensory organ. Used to study split hand-foot malformation 1. Human ortholog(s) of this gene implicated in split hand-foot malformation 1 and split hand-foot malformation 1 with sensorineural hearing loss. Orthologous to human DLX5 (distal-less homeobox 5). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in limb E14.5 (RPKM 4.1), CNS E14 (RPKM 4.0) and 8 other tissues See more
Orthologs: human all
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Genomic context

Location:: 6 A1; 6 2.83 cM

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	6	NC_000072.7 (6877801..6882068, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	6	NC_000072.6 (6877801..6882068, complement)

Chromosome 6 - NC_000072.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Distal-less homeobox genes Dlx5/6 regulate Mullerian duct regression.
Title: Distal-less homeobox genes Dlx5/6 regulate Müllerian duct regression.
Dlx5/6 Expression Levels in Mouse GABAergic Neurons Regulate Adult Parvalbumin Neuronal Density and Anxiety/Compulsive Behaviours.
Title: Dlx5/6 Expression Levels in Mouse GABAergic Neurons Regulate Adult Parvalbumin Neuronal Density and Anxiety/Compulsive Behaviours.
Dlx5 Represses the Transcriptional Activity of PPARgamma.
Title: Dlx5 Represses the Transcriptional Activity of PPARγ.
Dlx5-augmentation in neural crest cells reveals early development and differentiation potential of mouse apical head mesenchyme.
Title: Dlx5-augmentation in neural crest cells reveals early development and differentiation potential of mouse apical head mesenchyme.
Dysbacteriosis-Derived Lipopolysaccharide Causes Embryonic Osteopenia through Retinoic-Acid-Regulated DLX5 Expression.
Title: Dysbacteriosis-Derived Lipopolysaccharide Causes Embryonic Osteopenia through Retinoic-Acid-Regulated DLX5 Expression.
miR-339 expression gradually decreased while the expression of DLX5 increased during the induction culture of primary mouse bone marrow-derived mesenchymal stem cells (BMSCs). Bioinformatics predicted that miR-339 might target DLX5, and this hypothesis was validated by luciferase reporter assay. DLX5 could reverse the inhibitory effect of overexpression of miR-339 on osteogenic differentiation of BMSCs.
Title: Down-regulation of miR-339 promotes differentiation of BMSCs and alleviates osteoporosis by targeting DLX5.
(1) Dlx5/6 activation in NCCs invariably determines lower jaw identity; (2) the morphogenetic processes that generate functional matching jaws depend on the harmonization of Dlx5/6 expression in NCCs and in distinct ectodermal territories.
Title: Probing the origin of matching functional jaws: roles of Dlx5/6 in cranial neural crest cells.
T-614 promotes osteoblastic differentiation by increasing the expression of Osterix and Dlx5.
Title: T-614 Promotes Osteoblastic Cell Differentiation by Increasing Dlx5 Expression and Regulating the Activation of p38 and NF-κB.
Results indicate that Dlx5 and Runx2 are critical factors for the upregulated Osterix expression in shPP2A cells, which is considered to be important for the accelerated osteoblast differentiation in these cells.
Title: Upregulated osterix expression elicited by Runx2 and Dlx5 is required for the accelerated osteoblast differentiation in PP2A Cα-knockdown cells.
FGF10 pathway is downregulated in Dlx5(-/-) mice, and activation of FGF10 signaling rescues cranial neural crest cell proliferation and myogenic differentiation.
Title: The Dlx5-FGF10 signaling cascade controls cranial neural crest and myoblast interaction during oropharyngeal patterning and development.

Submit: New GeneRIF Correction See all GeneRIFs (75)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (6)
Targeted (7) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Dlx5 (e-PCR), detects polymorphism
- UniSTS:498467

Dlx5 (e-PCR), detects polymorphism
- UniSTS:471089

NoName (e-PCR)
- UniSTS:492354

DLX5_2316 (e-PCR)
- UniSTS:280646

Dlx5 (e-PCR), detects polymorphism
- UniSTS:547955

AI385752 (e-PCR)
- UniSTS:179335

MARC_9717-9718:996688547:1 (e-PCR)
- UniSTS:269979

Dlx5 (e-PCR), detects polymorphism
- UniSTS:498371

Dlx5 (e-PCR), detects polymorphism
- UniSTS:507870

Dlx5 (e-PCR), detects polymorphism
- UniSTS:506853

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables HMG box domain binding	IPI Inferred from Physical Interaction more info	PubMed
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables sequence-specific double-stranded DNA binding	ISO Inferred from Sequence Orthology more info
enables transcription cis-regulatory region binding	IDA Inferred from Direct Assay more info	PubMed
enables transcription cis-regulatory region binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in BMP signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within anatomical structure formation involved in morphogenesis	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within axon guidance	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within axonogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within bone morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cell differentiation	IBA Inferred from Biological aspect of Ancestor more info
involved_in cell population proliferation	ISO Inferred from Sequence Orthology more info
involved_in cell population proliferation	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within ear development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within embryonic limb morphogenesis	IGI Inferred from Genetic Interaction more info	PubMed
involved_in embryonic skeletal system development	IBA Inferred from Biological aspect of Ancestor more info
involved_in endochondral ossification	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within epithelial cell differentiation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within face morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within head development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within inner ear morphogenesis	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within inner ear morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within interneuron axon guidance	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within olfactory bulb interneuron differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within olfactory pit development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in osteoblast differentiation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of DNA-templated transcription	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within positive regulation of canonical Wnt signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of epithelial cell proliferation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within positive regulation of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of osteoblast differentiation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of DNA-templated transcription	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within roof of mouth development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within roof of mouth development	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in chromatin	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: homeobox protein DLX-5

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_010056.3 → NP_034186.2 homeobox protein DLX-5 isoform 1

See identical proteins and their annotated locations for NP_034186.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AF033011, AF072452, U67840

Consensus CDS

CCDS19905.1

UniProtKB/Swiss-Prot

O54876, O54877, O54878, P70396, Q9JJ45

UniProtKB/TrEMBL

Q3TYA7

Related

ENSMUSP00000052559.9, ENSMUST00000052609.9

Conserved Domains (2) summary

pfam00046
Location:140 → 194

Homeobox; Homeobox domain

pfam12413
Location:32 → 118

DLL_N; Homeobox protein distal-less-like N terminal
NM_198854.2 → NP_942151.1 homeobox protein DLX-5 isoform 2

See identical proteins and their annotated locations for NP_942151.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) uses an alternate splice site in the central coding region, resulting in a frameshift and an early stop codon, compared to variant 1. It encodes isoform 2, which is shorter and has a distinct C-terminus, compared to isoform 1.

Source sequence(s)

AF072453, U67840

Consensus CDS

CCDS59691.1

UniProtKB/TrEMBL

Q3TZ43

Related

ENSMUSP00000138264.2, ENSMUST00000142635.2

Conserved Domains (1) summary

pfam12413
Location:32 → 118

DLL_N; Homeobox protein distal-less-like N terminal