Go Annotations as Summary Text (Tabular View) (GO Graph)

GO curators for mouse genes have assigned the following annotations to the gene product of Arx. (This text reflects annotations as of Wednesday, January 23, 2013.)

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Summary from NCBI RefSeq

[Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a homeobox-containing gene expressed during development. The expressed protein contains two conserved domains, a C-peptide (or aristaless domain) and the prd-like class homeobox domain. It is a member of the group-II aristaless-related protein family whose members are expressed primarily in the central and/or peripheral nervous system. This gene is thought to be involved in CNS development. Mutations in this gene cause X-linked mental retardation and epilepsy. [provided by RefSeq, Jul 2008]

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Summary text based on GO annotations supported by experimental evidence in mouse

• Researchers have inferred from direct assay, that the gene product of Arx
  • performs the following molecular functions:
    • chromatin binding ^[3]
• Researchers have inferred, based on phenotypic analysis of mouse mutants, that the gene product of Arx
  • participates in the following biological processes:
    • axon guidance ^{[1, 4]}
    • cell proliferation in forebrain ^[4]
    • cerebral cortex GABAergic interneuron migration ^[1]
    • cerebral cortex tangential migration ^[1]
    • embryonic olfactory bulb interneuron precursor migration ^[4]
    • forebrain development ^[2]
    • globus pallidus development ^[1]
    • neuron migration ^[2]
    • olfactory bulb development ^[4]
    • positive regulation of organ growth ^[4]
    • regulation of cell proliferation ^[2]
• Based on the experimental annotations above, MGI curators have inferred, that the gene product of Arx
  • is located in the following cellular components:
    • nucleus ^[3]

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Summary text based on GO annotations supported by structural data

• Arx encodes a protein or proteins that contain the following InterPro domains: Homeobox, conserved site, Homeodomain, Homeodomain-like, OAR domain, indicating that the gene product:
  • participates in the following biological processes:
    • regulation of transcription, DNA-dependent
  • performs the following molecular functions:
    • DNA binding
    • sequence-specific DNA binding
    • sequence-specific DNA binding transcription factor activity

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Summary text for additional MGI annotations

• Automated translation to GO terms of SwissProt keywords that describe Arx indicates that it:
  • participates in the following biological processes:
    • cell differentiation
    • multicellular organismal development
    • nervous system development
    • regulation of transcription, DNA-dependent
    • transcription, DNA-dependent
  • performs the following molecular functions:
    • DNA binding

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References

1. Colombo E et al. (2007) Inactivation of Arx, the murine ortholog of the X-linked lissencephaly with ambiguous genitalia gene, leads to severe disorganization of the ventral telencephalon with impaired neuronal migration and differentiation. J Neurosci, 27:4786-98. (PubMed:17460091)
2. Kitamura K et al. (2002) Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans. Nat Genet, 32:359-69. (PubMed:12379852)
3. Quille ML et al. (2011) High-throughput analysis of promoter occupancy reveals new targets for Arx, a gene mutated in mental retardation and interneuronopathies. PLoS One, 6:e25181. (PubMed:21966449)
4. Yoshihara S et al. (2005) Arx homeobox gene is essential for development of mouse olfactory system. Development, 132:751-62. (PubMed:15677725)

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Gene Ontology Evidence Code Abbreviations:

EXP Inferred from experiment

IC Inferred by curator

IDA Inferred from direct assay

IEA Inferred from electronic annotation

IGI Inferred from genetic interaction

IMP Inferred from mutant phenotype

IPI Inferred from physical interaction

ISS Inferred from sequence or structural similarity

ISO Inferred from sequence orthology

ISA Inferred from sequence alignment

ISM Inferred from sequence model

NAS Non-traceable author statement

ND No biological data available

RCA Reviewed computational analysis

TAS Traceable author statement

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