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

Gene ID: 11878, updated on 5-Dec-2018

Summary

Official Symbol
Arxprovided by MGI
Official Full Name
aristaless related homeoboxprovided by MGI
Primary source
MGI:MGI:1097716
See related
Ensembl:ENSMUSG00000035277
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

Genomic context

See Arx in Genome Data Viewer
Location:
X C3; X 41.05 cM
Exon count:
5
Annotation release Status Assembly Chr Location
106 current GRCm38.p4 (GCF_000001635.24) X NC_000086.7 (93286507..93298357)
Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) X NC_000086.6 (90531985..90543696)

Chromosome X - NC_000086.7Genomic Context describing neighboring genes Neighboring gene Gm5941 pseudogene Neighboring gene cDNA sequence BC061195 Neighboring gene polymerase (DNA directed), alpha 1 Neighboring gene predicted gene, 35587 Neighboring gene valyl-tRNA synthetase pseudogene

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Variation

Alleles

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

General gene information

Markers

Homology

Gene Ontology Provided by MGI

Process Evidence Code Pubs
axon guidance IMP
Inferred from Mutant Phenotype
more info
PubMed 
cell differentiation IEA
Inferred from Electronic Annotation
more info
 
cell proliferation in forebrain IMP
Inferred from Mutant Phenotype
more info
PubMed 
cerebral cortex GABAergic interneuron migration IMP
Inferred from Mutant Phenotype
more info
PubMed 
cerebral cortex tangential migration IMP
Inferred from Mutant Phenotype
more info
PubMed 
embryonic olfactory bulb interneuron precursor migration IMP
Inferred from Mutant Phenotype
more info
PubMed 
epithelial cell fate commitment IMP
Inferred from Mutant Phenotype
more info
PubMed 
forebrain development IMP
Inferred from Mutant Phenotype
more info
PubMed 
globus pallidus development IMP
Inferred from Mutant Phenotype
more info
PubMed 
lipid digestion IMP
Inferred from Mutant Phenotype
more info
PubMed 
multicellular organism development IEA
Inferred from Electronic Annotation
more info
 
negative regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
nervous system development IEA
Inferred from Electronic Annotation
more info
 
neuron development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
neuron migration IMP
Inferred from Mutant Phenotype
more info
PubMed 
olfactory bulb development IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of gene expression IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of organ growth IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of cell proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IC
Inferred by Curator
more info
PubMed 
nucleus ISO
Inferred from Sequence Orthology
more info
 

NCBI Reference Sequences (RefSeq)

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)

  1. NM_001305940.1NP_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
    O35085
    Related
    ENSMUSP00000109580.2, ENSMUST00000113947.5
    Conserved Domains (2) summary
    pfam00046
    Location:334386
    Homeobox; Homeobox domain
    pfam03826
    Location:528545
    OAR; OAR domain
  2. NM_007492.4NP_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
    O35085
    Related
    ENSMUSP00000049039.7, ENSMUST00000046565.12
    Conserved Domains (2) summary
    pfam00046
    Location:334386
    Homeobox; Homeobox domain
    pfam03826
    Location:528545
    OAR; OAR domain

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 106

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

Reference GRCm38.p4 C57BL/6J

Genomic

  1. NC_000086.7 Reference GRCm38.p4 C57BL/6J

    Range
    93286507..93298357
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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