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Homeobox protein ARX

Summary

UniProt ID: Q96QS3
Gene Symbol: ARX
Gene ID: 170302
Organism: Homo sapiens (human)

External Links

GlyGen: Q96QS3
The O-GlcNAc Database: Q96QS3
O-GlcNAcAtlas: Q96QS3
Re-Glyco: Q96QS3

Annotation

Keyword: DNA-binding Developmental protein Differentiation Disease variant Epilepsy Homeobox Intellectual disability Lissencephaly Neurogenesis Nucleus Proteomics identification Reference proteome Transcription regulation Triplet repeat expansion

Gene Ontology (GO)

Displaying entries **1 - 5** of 21 in total

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GO Term	Evidence Code	Reference
negative regulation of transcription by RNA polymerase II	IDA	PMID
negative regulation of transcription by RNA polymerase II	IEA	GO_REF
regulation of transcription by RNA polymerase II	IBA	GO_REF
axon guidance
positive regulation of gene expression

GO Hierarchy

biological process

cellular process [inference]

cell population proliferation [inference]

neural precursor cell proliferation [inference]

cell proliferation in forebrain

cellular developmental process [inference]

cell fate commitment [inference]

cell development [inference]

neuron development

cell motility [inference]

cell migration [inference]

neuron migration [inference]

interneuron migration [inference]

cerebral cortex GABAergic interneuron migration

forebrain cell migration [inference]

telencephalon cell migration [inference]

cerebral cortex cell migration [inference]

cerebral cortex tangential migration

substrate-independent telencephalic tangential migration [inference]

substrate-independent telencephalic tangential interneuron migration [inference]

interneuron migration from the subpallium to the cortex [inference]

cerebral cortex GABAergic interneuron migration

embryonic olfactory bulb interneuron precursor migration

tangential migration from the subventricular zone to the olfactory bulb [inference]

embryonic olfactory bulb interneuron precursor migration

cellular component organization or biogenesis [inference]

cellular component organization [inference]

cell projection organization [inference]

plasma membrane bounded cell projection organization [inference]

neuron projection development [inference]

neuron projection guidance [inference]

axon guidance

multicellular organismal process [inference]

digestion [inference]

lipid digestion

organ growth

developmental process [inference]

anatomical structure development [inference]

cell development [inference]

neuron development

neural nucleus development [inference]

globus pallidus development

cellular developmental process [inference]

cell fate commitment [inference]

cell development [inference]

neuron development

growth [inference]

developmental growth [inference]

organ growth

biological regulation [inference]

regulation of biological process [inference]

regulation of growth [inference]

positive regulation of growth [inference]

positive regulation of developmental growth [inference]

positive regulation of organ growth

regulation of developmental growth [inference]

regulation of organ growth [inference]

positive regulation of organ growth

positive regulation of developmental growth [inference]

positive regulation of organ growth

positive regulation of biological process [inference]

positive regulation of growth [inference]

positive regulation of developmental growth [inference]

positive regulation of organ growth

positive regulation of cellular process [inference]

positive regulation of metabolic process [inference]

positive regulation of biosynthetic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of gene expression

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of macromolecule metabolic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of gene expression

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of RNA metabolic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of developmental process [inference]

positive regulation of developmental growth [inference]

positive regulation of organ growth

positive regulation of multicellular organismal process [inference]

positive regulation of organ growth

negative regulation of biological process [inference]

negative regulation of cellular process [inference]

negative regulation of metabolic process [inference]

negative regulation of biosynthetic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of RNA biosynthetic process [inference]

negative regulation of DNA-templated transcription [inference]

negative regulation of transcription by RNA polymerase II

negative regulation of macromolecule metabolic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of RNA biosynthetic process [inference]

negative regulation of DNA-templated transcription [inference]

negative regulation of transcription by RNA polymerase II

negative regulation of RNA metabolic process [inference]

negative regulation of RNA biosynthetic process [inference]

negative regulation of DNA-templated transcription [inference]

negative regulation of transcription by RNA polymerase II

negative regulation of nucleobase-containing compound metabolic process [inference]

negative regulation of RNA metabolic process [inference]

negative regulation of RNA biosynthetic process [inference]

negative regulation of DNA-templated transcription [inference]

negative regulation of transcription by RNA polymerase II

regulation of developmental process [inference]

regulation of developmental growth [inference]

regulation of organ growth [inference]

positive regulation of organ growth

positive regulation of developmental growth [inference]

positive regulation of organ growth

positive regulation of developmental process [inference]

positive regulation of developmental growth [inference]

positive regulation of organ growth

regulation of cellular process [inference]

regulation of metabolic process [inference]

regulation of biosynthetic process [inference]

negative regulation of biosynthetic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of RNA biosynthetic process [inference]

negative regulation of DNA-templated transcription [inference]

negative regulation of transcription by RNA polymerase II

positive regulation of biosynthetic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of gene expression

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

regulation of macromolecule biosynthetic process [inference]

regulation of gene expression [inference]

regulation of DNA-templated transcription [inference]

regulation of transcription by RNA polymerase II

negative regulation of DNA-templated transcription [inference]

negative regulation of transcription by RNA polymerase II

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of gene expression

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of gene expression

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of RNA biosynthetic process [inference]

negative regulation of DNA-templated transcription [inference]

negative regulation of transcription by RNA polymerase II

regulation of RNA biosynthetic process [inference]

regulation of DNA-templated transcription [inference]

regulation of transcription by RNA polymerase II

negative regulation of DNA-templated transcription [inference]

negative regulation of transcription by RNA polymerase II

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

negative regulation of RNA biosynthetic process [inference]

negative regulation of DNA-templated transcription [inference]

negative regulation of transcription by RNA polymerase II

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

negative regulation of metabolic process [inference]

negative regulation of biosynthetic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of RNA biosynthetic process [inference]

negative regulation of DNA-templated transcription [inference]

negative regulation of transcription by RNA polymerase II

negative regulation of macromolecule metabolic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of RNA biosynthetic process [inference]

negative regulation of DNA-templated transcription [inference]

negative regulation of transcription by RNA polymerase II

negative regulation of RNA metabolic process [inference]

negative regulation of RNA biosynthetic process [inference]

negative regulation of DNA-templated transcription [inference]

negative regulation of transcription by RNA polymerase II

negative regulation of nucleobase-containing compound metabolic process [inference]

negative regulation of RNA metabolic process [inference]

negative regulation of RNA biosynthetic process [inference]

negative regulation of DNA-templated transcription [inference]

negative regulation of transcription by RNA polymerase II

positive regulation of metabolic process [inference]

positive regulation of biosynthetic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of gene expression

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of macromolecule metabolic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of gene expression

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of RNA metabolic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

regulation of macromolecule metabolic process [inference]

regulation of macromolecule biosynthetic process [inference]

regulation of gene expression [inference]

regulation of DNA-templated transcription [inference]

regulation of transcription by RNA polymerase II

negative regulation of DNA-templated transcription [inference]

negative regulation of transcription by RNA polymerase II

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of gene expression

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of gene expression

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of RNA biosynthetic process [inference]

negative regulation of DNA-templated transcription [inference]

negative regulation of transcription by RNA polymerase II

regulation of RNA biosynthetic process [inference]

regulation of DNA-templated transcription [inference]

regulation of transcription by RNA polymerase II

negative regulation of DNA-templated transcription [inference]

negative regulation of transcription by RNA polymerase II

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

negative regulation of RNA biosynthetic process [inference]

negative regulation of DNA-templated transcription [inference]

negative regulation of transcription by RNA polymerase II

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of macromolecule metabolic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of gene expression

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of RNA metabolic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

negative regulation of macromolecule metabolic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of RNA biosynthetic process [inference]

negative regulation of DNA-templated transcription [inference]

negative regulation of transcription by RNA polymerase II

negative regulation of RNA metabolic process [inference]

negative regulation of RNA biosynthetic process [inference]

negative regulation of DNA-templated transcription [inference]

negative regulation of transcription by RNA polymerase II

regulation of RNA metabolic process [inference]

negative regulation of RNA metabolic process [inference]

negative regulation of RNA biosynthetic process [inference]

negative regulation of DNA-templated transcription [inference]

negative regulation of transcription by RNA polymerase II

positive regulation of RNA metabolic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

regulation of RNA biosynthetic process [inference]

regulation of DNA-templated transcription [inference]

regulation of transcription by RNA polymerase II

negative regulation of DNA-templated transcription [inference]

negative regulation of transcription by RNA polymerase II

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

negative regulation of RNA biosynthetic process [inference]

negative regulation of DNA-templated transcription [inference]

negative regulation of transcription by RNA polymerase II

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

regulation of primary metabolic process [inference]

regulation of nucleobase-containing compound metabolic process [inference]

negative regulation of nucleobase-containing compound metabolic process [inference]

negative regulation of RNA metabolic process [inference]

negative regulation of RNA biosynthetic process [inference]

negative regulation of DNA-templated transcription [inference]

negative regulation of transcription by RNA polymerase II

regulation of RNA metabolic process [inference]

negative regulation of RNA metabolic process [inference]

negative regulation of RNA biosynthetic process [inference]

negative regulation of DNA-templated transcription [inference]

negative regulation of transcription by RNA polymerase II

positive regulation of RNA metabolic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

regulation of RNA biosynthetic process [inference]

regulation of DNA-templated transcription [inference]

regulation of transcription by RNA polymerase II

negative regulation of DNA-templated transcription [inference]

negative regulation of transcription by RNA polymerase II

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

negative regulation of RNA biosynthetic process [inference]

negative regulation of DNA-templated transcription [inference]

negative regulation of transcription by RNA polymerase II

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

regulation of cell population proliferation [inference]

regulation of epithelial cell proliferation

positive regulation of cellular process [inference]

positive regulation of metabolic process [inference]

positive regulation of biosynthetic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of gene expression

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of macromolecule metabolic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of gene expression

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of RNA metabolic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

negative regulation of cellular process [inference]

negative regulation of metabolic process [inference]

negative regulation of biosynthetic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of RNA biosynthetic process [inference]

negative regulation of DNA-templated transcription [inference]

negative regulation of transcription by RNA polymerase II

negative regulation of macromolecule metabolic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of RNA biosynthetic process [inference]

negative regulation of DNA-templated transcription [inference]

negative regulation of transcription by RNA polymerase II

negative regulation of RNA metabolic process [inference]

negative regulation of RNA biosynthetic process [inference]

negative regulation of DNA-templated transcription [inference]

negative regulation of transcription by RNA polymerase II

negative regulation of nucleobase-containing compound metabolic process [inference]

negative regulation of RNA metabolic process [inference]

negative regulation of RNA biosynthetic process [inference]

negative regulation of DNA-templated transcription [inference]

negative regulation of transcription by RNA polymerase II

regulation of multicellular organismal process [inference]

regulation of organ growth [inference]

positive regulation of organ growth

positive regulation of multicellular organismal process [inference]

positive regulation of organ growth

Displaying **all 5** entries
GO Term	Evidence Code	Reference
chromatin	ISA	GO_REF
chromatin	IDA	PMID
nucleus	IDA	PMID PMID
nucleus	IBA	GO_REF
nucleus	IEA	GO_REF

GO Hierarchy

cellular component

cellular anatomical structure [inference]

chromatin

organelle [inference]

membrane-bounded organelle [inference]

intracellular membrane-bounded organelle [inference]

nucleus

intracellular organelle [inference]

intracellular membrane-bounded organelle [inference]

nucleus

Displaying entries **1 - 5** of 13 in total

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GO Term	Evidence Code	Reference
RNA polymerase II transcription regulatory region sequence-specific DNA binding	IBA	GO_REF
RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	PMID PMID
RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA	GO_REF
DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	GO_REF
DNA-binding transcription factor activity, RNA polymerase II-specific	IDA	PMID

GO Hierarchy

molecular function

binding [inference]

nucleic acid binding [inference]

transcription regulatory region nucleic acid binding [inference]

transcription cis-regulatory region binding [inference]

RNA polymerase II transcription regulatory region sequence-specific DNA binding

RNA polymerase II cis-regulatory region sequence-specific DNA binding

cis-regulatory region sequence-specific DNA binding [inference]

RNA polymerase II cis-regulatory region sequence-specific DNA binding

DNA binding [inference]

double-stranded DNA binding [inference]

sequence-specific double-stranded DNA binding

transcription cis-regulatory region binding [inference]

RNA polymerase II transcription regulatory region sequence-specific DNA binding

RNA polymerase II cis-regulatory region sequence-specific DNA binding

cis-regulatory region sequence-specific DNA binding [inference]

RNA polymerase II cis-regulatory region sequence-specific DNA binding

sequence-specific DNA binding [inference]

sequence-specific double-stranded DNA binding

transcription cis-regulatory region binding [inference]

RNA polymerase II transcription regulatory region sequence-specific DNA binding

RNA polymerase II cis-regulatory region sequence-specific DNA binding

cis-regulatory region sequence-specific DNA binding [inference]

RNA polymerase II cis-regulatory region sequence-specific DNA binding

chromatin binding

transcription regulator activity [inference]

DNA-binding transcription factor activity [inference]

DNA-binding transcription factor activity, RNA polymerase II-specific

DNA-binding transcription activator activity [inference]

DNA-binding transcription activator activity, RNA polymerase II-specific

DNA-binding transcription repressor activity [inference]

DNA-binding transcription repressor activity, RNA polymerase II-specific

Gene Ontology information from UniProt.

Annotation information from UniProt.

Sequence

MSNQYQEEGCSERPECKSKSPTLLSSYCIDSILGRRSPCKMRLLGAAQSLPAPLTSRADPEKAVQGSPKSSSAPFEAELHLPPKLRRLYGPGGGRLLQGAAAAAAAAAAAAAAAATATAGPRGEAPPPPPPTARPGERPDGAGAAAAAAAAAAAAWDTLKISQAPQVSISRSKSYRENGAPFVPPPPALDELGGPGGVTHPEERLGVAGGPGSAPAAGGGTGTEDDEEELLEDEEDEDEEEELLEDDEEELLEDDARALLKEPRRCPVAATGAVAAAAAAAVATEGGELSPKEELLLHPEDAEGKDGEDSVCLSAGSDSEEGLLKRKQRRYRTTFTSYQLEELERAFQKTHYPDVFTREELAMRLDLTEARVQVWFQNRRAKWRKREKAGAQTHPPGLPFPGPLSATHPLSPYLDASPFPPHHPALDSAWTAAAAAAAAAFPSLPPPPGSASLPPSGAPLGLSTFLGAAVFRHPAFISPAFGRLFSTMAPLTSASTAAALLRQPTPAVEGAVASGALADPATAAADRRASSIAALRLKAKEHAAQLTQLNILPGTSTGKEVC

N : N-glycosylation Site
___ : Potential Sequon

Glycosylation Sites

Displaying **all 2** entries
Position	Description	PubMed ID	GlyTouCan ID	Source
49		28657654	G49108TO	The O-GlcNAc Database
55		28657654	G49108TO	GlyGen The O-GlcNAc Database

Feature

: Glycosylation Site from GlyGen
: Glycosylation Site from UniProt

Disease

Displaying **all 6** entries
DO ID	Disease Name	Source
DOID:0060806	syndromic X-linked intellectual disability Hedera type	Alliance of Genome Resources
DOID:14744	Partington syndrome	Alliance of Genome Resources
DOID:0080468	developmental and epileptic encephalopathy 1	Alliance of Genome Resources
DOID:0112021	non-syndromic X-linked intellectual disability ARX-related	Alliance of Genome Resources
DOID:0112151	corpus callosum agenesis-abnormal genitalia syndrome	Alliance of Genome Resources
DOID:0112238	X-linked lissencephaly 2	Alliance of Genome Resources

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

LM-GlycoRepo

All Resources

Other Information

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Summary

External Links

Annotation

International Collaboration

Acknowledgements