Dmbx1 diencephalon/mesencephalon homeobox 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Dmbx1provided by MGI
Official Full Name: diencephalon/mesencephalon homeobox 1provided by MGI
Primary source: MGI:MGI:2153518
See related: Ensembl:ENSMUSG00000028707 AllianceGenome:MGI:2153518
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
Also known as: Atx; Mbx; Cdmx; Otx3
Summary: Enables DNA-binding transcription repressor activity, RNA polymerase II-specific; RNA polymerase II transcription regulatory region sequence-specific DNA binding activity; and identical protein binding activity. Involved in brain development; developmental growth; and negative regulation of transcription by RNA polymerase II. Acts upstream of or within adult feeding behavior and adult locomotory behavior. Part of transcription regulator complex. Is expressed in several structures, including central nervous system; embryo ectoderm; limb bud; male reproductive gland or organ; and sensory organ. Orthologous to human DMBX1 (diencephalon/mesencephalon homeobox 1). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in CNS E11.5 (RPKM 2.2), whole brain E14.5 (RPKM 1.7) and 4 other tissues See more
Orthologs: human all
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Genomic context

Location:: 4 D1; 4 53.07 cM

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	4	NC_000070.7 (115772316..115797794, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	4	NC_000070.6 (115915119..115940597, complement)

Chromosome 4 - NC_000070.7 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?

ATX genetic deletion from CD11b+ cells attenuated the severity of experimental autoimmune encephalomyelitis (EAE), thus proposing a pathogenic role for the ATX/LPA axis in neuroinflammatory disorders.
Title: Genetic deletion of Autotaxin from CD11b+ cells decreases the severity of experimental autoimmune encephalomyelitis.
The crystal structure of mouse ATX in complex with an anti-ATX aptamer.
Title: Structural basis for specific inhibition of Autotaxin by a DNA aptamer.
Data (including data from studies in transgenic/knockout mice) suggest that expression in adult brain neurons (especially in parabrachial nucleus) of both Dmbx1 and AgRP (agouti-related peptide) is important in appetite regulation leading to leanness.
Title: Importance of Adult Dmbx1 in Long-Lasting Orexigenic Effect of Agouti-Related Peptide.
Dmbx1 is essential for various actions of agouti-related protein and plays a role in normal regulation of energy homeostasis and behavior
Title: Dmbx1 is essential in agouti-related protein action.
Dmbx1 is expressed only in the developing central nervous system and in particular during early determination and successive differentiation of the midbrain and caudal diencephalon
Title: Dmbx1 is a paired-box containing gene specifically expressed in the caudal most brain structures.
Expression of Dmbx1 commences during gastrulation, when transcripts are detected in a crescent around the anterior neural plate. As development progresses, Dmbx1 marks the prospective midbrain and pretectum
Title: The paired-type homeobox gene Dmbx1 marks the midbrain and pretectum.
Dmbx1 gene is expressed in the developing mouse diencephalon, midbrain and hindbrain, and has dynamic expression during forelimb and hindlimb development
Title: An orphan PRD class homeobox gene expressed in mouse brain and limb development.
Results demonstrate that Dmbx1 is required for postnatal survival, growth, and brain development.
Title: Neonatal lethality, dwarfism, and abnormal brain development in Dmbx1 mutant mice.
Dmbx1, a novel evolutionarily conserved paired-like homeobox gene is expressed in the brain of mouse embryos. Linkage analysis mapped mouse Dmbx1 to the mid-portion of chromosome 4.
Title: Dmbx1, a novel evolutionarily conserved paired-like homeobox gene expressed in the brain of mouse embryos.
provides a useful molecular marker for early mouse midbrain development and may play a critical role in brain development
Title: Mbx, a novel mouse homeobox gene.

Submit: New GeneRIF Correction See all GeneRIFs (12)

Variation

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Alleles

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

Targeted (9) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Aldh7a1 (e-PCR), detects polymorphism
- UniSTS:234039

Otx3 (e-PCR), detects polymorphism
- UniSTS:276143

Dmbx1 (e-PCR), detects polymorphism
- UniSTS:507871

Gene Ontology Provided by MGI

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

Process	Evidence Code	Pubs
acts_upstream_of_or_within adult feeding behavior	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within adult feeding behavior	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within adult locomotory behavior	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in brain development	IEP Inferred from Expression Pattern more info	PubMed
involved_in central nervous system development	IEP Inferred from Expression Pattern more info	PubMed
involved_in developmental growth	IEP Inferred from Expression Pattern more info	PubMed
involved_in negative regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within negative regulation of transcription by RNA polymerase II	IGI Inferred from Genetic Interaction more info	PubMed
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in nucleus	IC Inferred by Curator more info	PubMed
part_of transcription regulator complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: diencephalon/mesencephalon homeobox protein 1

Names: diencephalon/mesencephalon-expressed brain homeobox gene 1 protein; homeobox gene Atx; orthodenticle homolog 3; paired-like homeobox protein DMBX1; paired-type homeobox Atx

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_001025567.1 → NP_001020738.1 diencephalon/mesencephalon homeobox protein 1 isoform b

See identical proteins and their annotated locations for NP_001020738.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) uses an alternate splice site in the 5' coding region, compared to variant 1. It encodes isoform b, which is shorter than isoform a.

Source sequence(s)

BC050912, BY732319

Consensus CDS

CCDS18500.1

UniProtKB/Swiss-Prot

Q91ZK4

Related

ENSMUSP00000120320.3, ENSMUST00000124071.9

Conserved Domains (1) summary

pfam00046
Location:69 → 123

Homeobox; Homeobox domain
NM_130865.3 → NP_570935.3 diencephalon/mesencephalon homeobox protein 1 isoform a

See identical proteins and their annotated locations for NP_570935.3

Status: VALIDATED

Description

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

Source sequence(s)

BC050912, BY732319, CN455087

UniProtKB/Swiss-Prot

B1ASG1, Q8CH43, Q8K4U6, Q8VHG8, Q91ZK3, Q91ZK4

Conserved Domains (1) summary

pfam00046
Location:74 → 128

Homeobox; Homeobox domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000070.7 Reference GRCm39 C57BL/6J

Range

115772316..115797794 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017319958.2 → XP_017175447.1 diencephalon/mesencephalon homeobox protein 1 isoform X3

UniProtKB/Swiss-Prot

B1ASG1, Q8CH43, Q8K4U6, Q8VHG8, Q91ZK3, Q91ZK4

Conserved Domains (1) summary

pfam00046
Location:74 → 128

Homeobox; Homeobox domain
XM_030253193.1 → XP_030109053.1 diencephalon/mesencephalon homeobox protein 1 isoform X4

Conserved Domains (1) summary

pfam00046
Location:69 → 123

Homeobox; Homeobox domain
XM_017319959.2 → XP_017175448.1 diencephalon/mesencephalon homeobox protein 1 isoform X3

UniProtKB/Swiss-Prot

B1ASG1, Q8CH43, Q8K4U6, Q8VHG8, Q91ZK3, Q91ZK4

Conserved Domains (1) summary

pfam00046
Location:74 → 128

Homeobox; Homeobox domain
XM_017319957.2 → XP_017175446.1 diencephalon/mesencephalon homeobox protein 1 isoform X1

Conserved Domains (1) summary

pfam00046
Location:82 → 136

Homeobox; Homeobox domain
XM_011240436.3 → XP_011238738.1 diencephalon/mesencephalon homeobox protein 1 isoform X2

Conserved Domains (1) summary

pfam00046
Location:77 → 131

Homeobox; Homeobox domain