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Homeobox protein ARX

Summary

UniProt ID

Q96QS3

Gene Symbol

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 **all 2** entries
GO Term
chromatin
nucleus

Subcellular Location(GO Annotation)

Subcellular in which this glycoprotein is expressed are highlighted in blue.

Displaying entries **1 - 10** of 15 in total

1

2

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GO Term
positive regulation of gene expression
organ growth
positive regulation of organ growth
regulation of epithelial cell proliferation
axon guidance
positive regulation of transcription by RNA polymerase II
globus pallidus development
cerebral cortex tangential migration
cerebral cortex GABAergic interneuron migration
lipid digestion

Displaying **all 7** entries
GO Term
chromatin binding
RNA polymerase II transcription regulatory region sequence-specific DNA binding
RNA polymerase II cis-regulatory region sequence-specific DNA binding
DNA-binding transcription factor activity, RNA polymerase II-specific
DNA-binding transcription activator activity, RNA polymerase II-specific
DNA-binding transcription repressor activity, RNA polymerase II-specific
sequence-specific double-stranded DNA binding

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			G49108TO	The O-GlcNAc Database
55			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: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
DOID:14744	Partington syndrome	Alliance of Genome Resources

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

LM-GlycoRepo

All Resources

Other Information

Tools

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Summary

External Links

Annotation

International Collaboration

Acknowledgements