Protein structure - ARX - The Human Protein Atlas

GENERAL INFORMATIONⁱ General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene nameⁱ Official gene symbol, which is typically a short form of the gene name, according to HGNC.	ARX
Synonyms	CT121, EIEE1, ISSX, MRX29, MRX32, MRX33, MRX36, MRX38, MRX43, MRX54, MRX76, MRX87, MRXS1, PRTS
Gene descriptionⁱ Full gene name according to HGNC.	Aristaless related homeobox
Protein classⁱ Assigned HPA protein class(es) for the encoded protein(s). Read more	Disease related genes Human disease related genes Plasma proteins Transcription factors
Predicted locationⁱ All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions. Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached. Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s). The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location. Read more	Intracellular
Protein evidence	Evidence at protein level (all genes)

GENE INFORMATIONⁱ Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome	X
Cytoband	p21.3
Chromosome location (bp)	25003694 - 25016420
Number of transcriptsⁱ Number of protein-coding transcripts from the gene as defined by Ensembl.	2
Ensembl	ENSG00000004848 (version 103.38)
Entrez gene	170302
HGNC	HGNC:18060
UniProt	Q96QS3 (UniProt - Evidence at protein level)
neXtProt	NX_Q96QS3
Antibodypedia	ARX antibodies

PROTEIN STRUCTUREⁱ

Predicted

Description: Structure prediction from Alphafold project. Structure version 2

# Chains: 1 # Clinical variants: 12 # Population variants: 179

Antigens:

Off

Variants:

Off

Clinical

Population

Color scheme:

Confidence

Residue index

Chain name

Autorotate:

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PROTEIN BROWSERⁱ

ARX-201

ARX-205

PROTEIN INFORMATIONⁱ The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database. The ENSP identifier links to the Ensembl website protein summary, while the ENST identifier links to the Ensembl website transcript summary for the selected splice variant. The data in the UniProt column can be expanded to show links to all matching UniProt identifiers for this protein. The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class. The Gene Ontology terms assigned to this protein are listed if expanding the Gene ontology column. The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide (according to a majority of the signal peptide predictors SPOCTOPUS, SignalP 4.0, and Phobius) and the number of predicted transmembrane region(s) (according to MDM) are also reported.
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
ARX-201 ENSP00000368332 ENST00000379044	Q96QS3 [Direct mapping] Homeobox protein ARX Show all	Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Transcription factors Helix-turn-helix domains Disease related genes Human disease related genes Congenital malformations Congenital malformations of the nervous system Other congenital malformations Nervous system diseases Epilepsy Ear disease Other diseases Mental and behavioural disorders Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Show all	GO:0000122 [negative regulation of transcription by RNA polymerase II] GO:0000785 [chromatin] GO:0000977 [RNA polymerase II transcription regulatory region sequence-specific DNA binding] GO:0000978 [RNA polymerase II cis-regulatory region sequence-specific DNA binding] GO:0000981 [DNA-binding transcription factor activity, RNA polymerase II-specific] GO:0001227 [DNA-binding transcription repressor activity, RNA polymerase II-specific] GO:0001764 [neuron migration] GO:0003677 [DNA binding] GO:0003682 [chromatin binding] GO:0005634 [nucleus] GO:0006355 [regulation of transcription, DNA-templated] GO:0006357 [regulation of transcription by RNA polymerase II] GO:0007275 [multicellular organism development] GO:0007399 [nervous system development] GO:0007411 [axon guidance] GO:0010628 [positive regulation of gene expression] GO:0021759 [globus pallidus development] GO:0021772 [olfactory bulb development] GO:0021800 [cerebral cortex tangential migration] GO:0021831 [embryonic olfactory bulb interneuron precursor migration] GO:0021846 [cell proliferation in forebrain] GO:0021853 [cerebral cortex GABAergic interneuron migration] GO:0030154 [cell differentiation] GO:0030900 [forebrain development] GO:0042127 [regulation of cell population proliferation] GO:0044241 [lipid digestion] GO:0046622 [positive regulation of organ growth] GO:0048484 [enteric nervous system development] GO:0072148 [epithelial cell fate commitment] GO:1990837 [sequence-specific double-stranded DNA binding] Show all	562 aa 58.2 kDa	No	0
ARX-205 ENSP00000490122 ENST00000637993	A0A1B0GUI3 [Direct mapping] Homeobox protein ARX Show all	Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Congenital malformations of the nervous system Other congenital malformations Nervous system diseases Epilepsy Ear disease Other diseases Mental and behavioural disorders Show all		48 aa 5.1 kDa	No	0