Arx aristaless related homeobox [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Arxprovided by MGI
Official Full Name: aristaless related homeoboxprovided by MGI
Primary source: MGI:MGI:1097716
See related: Ensembl:ENSMUSG00000035277 AllianceGenome:MGI:1097716
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Arx1
Summary: This gene encodes a transcription factor that plays an important role in the development of forebrain. Male mice lacking this gene have smaller brains, olfactory bulbs and testes, and die within half a day after birth. Mice lacking this gene specifically in ganglionic eminence-derived neurons, including cortical interneurons, develop seizures. Mutations in this gene have been demonstrated to cause mouse phenotypes resembling human X-linked lissencephaly and cognitive disability with epilepsy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
Expression: Biased expression in whole brain E14.5 (RPKM 21.2), ovary adult (RPKM 21.1) and 6 other tissues See more
Orthologs: human all
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Genomic context

Location:: X C3; X 41.05 cM

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	X	NC_000086.8 (92330113..92341963)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	X	NC_000086.7 (93286507..93298357)

Chromosome X - NC_000086.8 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?

Identification and validation of the phosphorylation sites on Aristaless-related homeobox protein.
Title: Identification and validation of the phosphorylation sites on Aristaless-related homeobox protein.
Arx expansion mutation perturbs cortical development by augmenting apoptosis without activating innate immunity in a mouse model of X-linked infantile spasms syndrome.
Title: Arx expansion mutation perturbs cortical development by augmenting apoptosis without activating innate immunity in a mouse model of X-linked infantile spasms syndrome.
The maternal immune activation model uncovers a role for the Arx gene in GABAergic dysfunction in schizophrenia.
Title: The maternal immune activation model uncovers a role for the Arx gene in GABAergic dysfunction in schizophrenia.
isruption and mutation of aristaless-related homeobox (ARX) are found to lead to the deletion and reduction of alpha-cells both in mice models and in humans [Review].
Title: Present status and expectation of aristaless-related homeobox (ARX) in endocrine pancreas.
Here the authors show that ARX participates in establishing dorsoventral identity in the mouse forebrain.
Title: Arx Expression Suppresses Ventralization of the Developing Dorsal Forebrain.
To understand the functional consequences of this mutation, we generated a partially humanized mouse model carrying the c.428_451dup24 duplication (Arxdup24/0) that we characterized at the behavior, neurological and molecular level. Arxdup24/0 males presented with hyperactivity, enhanced stereotypies and altered contextual fear memory
Title: A new mouse model of ARX dup24 recapitulates the patients' behavioral and fine motor alterations.
Study characterized the disturbances to cortical interneuron development in mice modeling the two most common ARX polyalanine expansion mutations in human. We found a consistent approximately 40-50% reduction of calbindin-positive interneurons, but not Stt+ or Cr+ interneurons, within the cortex of newborn hemizygous mice for both mutant strains compared to wildtype.
Title: ARX polyalanine expansion mutations lead to migration impediment in the rostral cortex coupled with a developmental deficit of calbindin-positive cortical GABAergic interneurons.
This report present comprehensive postnatal data for mice modelling the two most common ARX polyalanine expansion mutation and show that the phenotypic outcomes recapitulate the common features observed in patients harbouring ARX polyalanine expansion mutations.
Title: Extensive phenotyping of two ARX polyalanine expansion mutation mouse models that span clinical spectrum of intellectual disability and epilepsy.
Study provides further support that the role of Arx in interneuron development is to direct appropriate migration of ventral neuronal precursors into the dorsal cortex and that the loss of Arx results in a failure of interneurons to reach the cortex and thus a deficiency in interneurons.
Title: Developmental interneuron subtype deficits after targeted loss of Arx.
ARX positively regulates Wnt/ beta-catenin signaling and the C-terminal domain of ARX interacts with the armadillo repeats in beta-catenin to promote Wnt/beta-catenin signaling. In addition, we found BCL9 and P300 also interact with ARX to modulate Wnt/beta-catenin signaling.
Title: Aristaless Related Homeobox (ARX) Interacts with β-Catenin, BCL9, and P300 to Regulate Canonical Wnt Signaling.

Submit: New GeneRIF Correction See all GeneRIFs (45)

Variation

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Alleles

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

Endonuclease-mediated (2) 1 citation
Targeted (12) 1 citation

General gene information

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Markers

RH128932 (e-PCR)
- UniSTS:212240

NoName (e-PCR)
- UniSTS:532310

Arx (e-PCR), detects polymorphism
- UniSTS:532310

Arx (e-PCR), detects polymorphism
- UniSTS:546662

Arx (e-PCR), detects polymorphism
- UniSTS:506739

Arx (e-PCR), detects polymorphism
- UniSTS:525476

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IEA Inferred from Electronic Annotation more info
enables DNA-binding transcription activator activity, RNA polymerase II-specific	ISO Inferred from Sequence Orthology more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISO Inferred from Sequence Orthology more info	PubMed
enables DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription repressor activity, RNA polymerase II-specific	ISO Inferred from Sequence Orthology more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	ISO Inferred from Sequence Orthology more info
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables chromatin 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 axon guidance	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cell proliferation in forebrain	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cerebral cortex GABAergic interneuron migration	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cerebral cortex tangential migration	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within embryonic olfactory bulb interneuron precursor migration	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within epithelial cell fate commitment	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within forebrain development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within globus pallidus development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within interneuron migration	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within lipid digestion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within neuron migration	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within olfactory bulb development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of organ growth	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of organ growth	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of epithelial cell proliferation	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

Component	Evidence Code	Pubs
located_in nucleus	IC Inferred by Curator more info	PubMed
located_in nucleus	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: homeobox protein ARX

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_001305940.1 → NP_001292869.1 homeobox protein ARX

See identical proteins and their annotated locations for NP_001292869.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.

Source sequence(s)

BC052033, CJ045476, CJ049350

Consensus CDS

CCDS30271.1

UniProtKB/Swiss-Prot

A2A4G9, O35085, Q9QYT4

Related

ENSMUSP00000109580.3, ENSMUST00000113947.6

Conserved Domains (2) summary

pfam00046
Location:334 → 386

Homeobox; Homeobox domain

pfam03826
Location:528 → 545

OAR; OAR domain
NM_007492.4 → NP_031518.2 homeobox protein ARX

See identical proteins and their annotated locations for NP_031518.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.

Source sequence(s)

BC052033, CJ045476

Consensus CDS

CCDS30271.1

UniProtKB/Swiss-Prot

A2A4G9, O35085, Q9QYT4

Related

ENSMUSP00000049039.8, ENSMUST00000046565.13

Conserved Domains (2) summary

pfam00046
Location:334 → 386

Homeobox; Homeobox domain

pfam03826
Location:528 → 545

OAR; OAR domain