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Entry version 157 (08 May 2019)
Sequence version 1 (01 Dec 2001)
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Protein

Homeobox protein ARX

Gene

ARX

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Transcription factor required for normal brain development. May be important for maintenance of specific neuronal subtypes in the cerebral cortex and axonal guidance in the floor plate.

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section specifies the position and type of each DNA-binding domain present within the protein.<p><a href='/help/dna_bind' target='_top'>More...</a></p>DNA bindingi328 – 387HomeoboxPROSITE-ProRule annotationAdd BLAST60

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionDevelopmental protein, DNA-binding
Biological processDifferentiation, Neurogenesis, Transcription, Transcription regulation

Enzyme and pathway databases

SIGNOR Signaling Network Open Resource

More...
SIGNORi
Q96QS3

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Homeobox protein ARX
Alternative name(s):
Aristaless-related homeobox
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:ARX
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome X

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:18060 ARX

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
300382 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q96QS3

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Lissencephaly, X-linked 2 (LISX2)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA classic type lissencephaly associated with abnormal genitalia. Patients have severe congenital or postnatal microcephaly, lissencephaly, agenesis of the corpus callosum, neonatal-onset intractable epilepsy, poor temperature regulation, chronic diarrhea, and ambiguous or underdeveloped genitalia.
See also OMIM:300215
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_015178332R → H in LISX2. 2 PublicationsCorresponds to variant dbSNP:rs111033612EnsemblClinVar.1
Natural variantiVAR_033260332R → P in LISX2. 1 Publication1
Natural variantiVAR_015179343L → Q in LISX2. 2 PublicationsCorresponds to variant dbSNP:rs104894741EnsemblClinVar.1
Natural variantiVAR_033262353P → R in LISX2. 1 Publication1
Natural variantiVAR_033263521A → T in LISX2; severe phenotype. 1 PublicationCorresponds to variant dbSNP:rs746120093EnsemblClinVar.1
Epileptic encephalopathy, early infantile, 1 (EIEE1)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA severe form of epilepsy characterized by frequent tonic seizures or spasms beginning in infancy with a specific EEG finding of suppression-burst patterns, characterized by high-voltage bursts alternating with almost flat suppression phases. Patients may progress to West syndrome, which is characterized by tonic spasms with clustering, arrest of psychomotor development, and hypsarrhythmia on EEG.
See also OMIM:308350
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_015177115A → AAAAAAAA in EIEE1. 1
Natural variantiVAR_015670155A → AAAAAAAAA in EIEE1 and PRTS; also found in non-specific mental retardation families; frequent mutation. 2 Publications1
Natural variantiVAR_015180353P → L in EIEE1; corpus callosum hypoplasia and simplified gyral pattern observed in one patient. 2 PublicationsCorresponds to variant dbSNP:rs104894743EnsemblClinVar.1
Partington syndrome (PRTS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionCharacterized by mental retardation, episodic dystonic hand movements, and dysarthria.
See also OMIM:309510
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_015670155A → AAAAAAAAA in EIEE1 and PRTS; also found in non-specific mental retardation families; frequent mutation. 2 Publications1
Mental retardation, X-linked, ARX-related (MRXARX)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked mental retardation, while syndromic mental retardation presents with associated physical, neurological and/or psychiatric manifestations.
See also OMIM:300419
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01566933L → P in MRXARX. 1 PublicationCorresponds to variant dbSNP:rs28936077EnsemblClinVar.1
Natural variantiVAR_015671286G → S in MRXARX. 1 PublicationCorresponds to variant dbSNP:rs28935479EnsemblClinVar.1
Agenesis of the corpus callosum, with abnormal genitalia (ACCAG)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA X-linked syndrome with variable expression in females. It is characterized by agenesis of corpus callosum, mental retardation and seizures. Manifestations in surviving males include severe acquired micrencephaly, mental retardation, limb contractures, scoliosis, tapered fingers with hyperconvex nails, a characteristic face with large eyes, prominent supraorbital ridges, synophrys, optic atrophy, broad alveolar ridges, and seizures. Urologic anomalies include renal dysplasia, cryptorchidism, and hypospadias.
See also OMIM:300004
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_033261333T → N in ACCAG. 1 PublicationCorresponds to variant dbSNP:rs104894745EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Epilepsy, Lissencephaly, Mental retardation

Organism-specific databases

DisGeNET

More...
DisGeNETi
170302

MalaCards human disease database

More...
MalaCardsi
ARX
MIMi300004 phenotype
300215 phenotype
300419 phenotype
308350 phenotype
309510 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000004848

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
2508 Corpus callosum agenesis-abnormal genitalia syndrome
1934 Early infantile epileptic encephalopathy
364063 Infantile epileptic-dyskinetic encephalopathy
94083 Partington syndrome
3451 West syndrome
452 X-linked lissencephaly with abnormal genitalia
777 X-linked non-syndromic intellectual disability
3175 X-linked spasticity-intellectual disability-epilepsy syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA25024

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
ARX

Domain mapping of disease mutations (DMDM)

More...
DMDMi
27923733

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000488191 – 562Homeobox protein ARXAdd BLAST562

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q96QS3

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q96QS3

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
Q96QS3

PeptideAtlas

More...
PeptideAtlasi
Q96QS3

PRoteomics IDEntifications database

More...
PRIDEi
Q96QS3

ProteomicsDB human proteome resource

More...
ProteomicsDBi
77895

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q96QS3

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q96QS3

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Expressed predominantly in fetal and adult brain and skeletal muscle. Expression is specific to the telencephalon and ventral thalamus. There is an absence of expression in the cerebellum throughout development and also in adult.3 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000004848 Expressed in 95 organ(s), highest expression level in female gonad

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q96QS3 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q96QS3 HS

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
127998, 17 interactors

Protein interaction database and analysis system

More...
IntActi
Q96QS3, 17 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000368332

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q96QS3

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi530 – 543OARPROSITE-ProRule annotationAdd BLAST14

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi100 – 155Ala-richAdd BLAST56
Compositional biasi224 – 253Glu-richAdd BLAST30
Compositional biasi395 – 459Pro-richAdd BLAST65
Compositional biasi425 – 544Ala-richAdd BLAST120

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Keywords - Domaini

Homeobox

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG0490 Eukaryota
ENOG410YIJ3 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000160633

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000012381

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q96QS3

KEGG Orthology (KO)

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KOi
K09452

Identification of Orthologs from Complete Genome Data

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OMAi
HYLEGGP

Database of Orthologous Groups

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OrthoDBi
944129at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q96QS3

TreeFam database of animal gene trees

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TreeFami
TF350743

Family and domain databases

Conserved Domains Database

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CDDi
cd00086 homeodomain, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR009057 Homeobox-like_sf
IPR017970 Homeobox_CS
IPR001356 Homeobox_dom
IPR003654 OAR_dom

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00046 Homeodomain, 1 hit
PF03826 OAR, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00389 HOX, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF46689 SSF46689, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00027 HOMEOBOX_1, 1 hit
PS50071 HOMEOBOX_2, 1 hit
PS50803 OAR, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All

Q96QS3-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MSNQYQEEGC SERPECKSKS PTLLSSYCID SILGRRSPCK MRLLGAAQSL
60 70 80 90 100
PAPLTSRADP EKAVQGSPKS SSAPFEAELH LPPKLRRLYG PGGGRLLQGA
110 120 130 140 150
AAAAAAAAAA AAAAATATAG PRGEAPPPPP PTARPGERPD GAGAAAAAAA
160 170 180 190 200
AAAAAWDTLK ISQAPQVSIS RSKSYRENGA PFVPPPPALD ELGGPGGVTH
210 220 230 240 250
PEERLGVAGG PGSAPAAGGG TGTEDDEEEL LEDEEDEDEE EELLEDDEEE
260 270 280 290 300
LLEDDARALL KEPRRCPVAA TGAVAAAAAA AVATEGGELS PKEELLLHPE
310 320 330 340 350
DAEGKDGEDS VCLSAGSDSE EGLLKRKQRR YRTTFTSYQL EELERAFQKT
360 370 380 390 400
HYPDVFTREE LAMRLDLTEA RVQVWFQNRR AKWRKREKAG AQTHPPGLPF
410 420 430 440 450
PGPLSATHPL SPYLDASPFP PHHPALDSAW TAAAAAAAAA FPSLPPPPGS
460 470 480 490 500
ASLPPSGAPL GLSTFLGAAV FRHPAFISPA FGRLFSTMAP LTSASTAAAL
510 520 530 540 550
LRQPTPAVEG AVASGALADP ATAAADRRAS SIAALRLKAK EHAAQLTQLN
560
ILPGTSTGKE VC
Length:562
Mass (Da):58,160
Last modified:December 1, 2001 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iFBDF41E387C65532
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A1B0GUI3A0A1B0GUI3_HUMAN
Homeobox protein ARX
ARX
48Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01566933L → P in MRXARX. 1 PublicationCorresponds to variant dbSNP:rs28936077EnsemblClinVar.1
Natural variantiVAR_015177115A → AAAAAAAA in EIEE1. 1
Natural variantiVAR_015670155A → AAAAAAAAA in EIEE1 and PRTS; also found in non-specific mental retardation families; frequent mutation. 2 Publications1
Natural variantiVAR_015671286G → S in MRXARX. 1 PublicationCorresponds to variant dbSNP:rs28935479EnsemblClinVar.1
Natural variantiVAR_015178332R → H in LISX2. 2 PublicationsCorresponds to variant dbSNP:rs111033612EnsemblClinVar.1
Natural variantiVAR_033260332R → P in LISX2. 1 Publication1
Natural variantiVAR_033261333T → N in ACCAG. 1 PublicationCorresponds to variant dbSNP:rs104894745EnsemblClinVar.1
Natural variantiVAR_015179343L → Q in LISX2. 2 PublicationsCorresponds to variant dbSNP:rs104894741EnsemblClinVar.1
Natural variantiVAR_015180353P → L in EIEE1; corpus callosum hypoplasia and simplified gyral pattern observed in one patient. 2 PublicationsCorresponds to variant dbSNP:rs104894743EnsemblClinVar.1
Natural variantiVAR_033262353P → R in LISX2. 1 Publication1
Natural variantiVAR_033263521A → T in LISX2; severe phenotype. 1 PublicationCorresponds to variant dbSNP:rs746120093EnsemblClinVar.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AY038071 mRNA Translation: AAK93901.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS14215.1

NCBI Reference Sequences

More...
RefSeqi
NP_620689.1, NM_139058.2

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000379044; ENSP00000368332; ENSG00000004848

Database of genes from NCBI RefSeq genomes

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GeneIDi
170302

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:170302

UCSC genome browser

More...
UCSCi
uc004dbp.5 human

Keywords - Coding sequence diversityi

Triplet repeat expansion

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY038071 mRNA Translation: AAK93901.1
CCDSiCCDS14215.1
RefSeqiNP_620689.1, NM_139058.2

3D structure databases

SMRiQ96QS3
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi127998, 17 interactors
IntActiQ96QS3, 17 interactors
STRINGi9606.ENSP00000368332

PTM databases

iPTMnetiQ96QS3
PhosphoSitePlusiQ96QS3

Polymorphism and mutation databases

BioMutaiARX
DMDMi27923733

Proteomic databases

EPDiQ96QS3
jPOSTiQ96QS3
PaxDbiQ96QS3
PeptideAtlasiQ96QS3
PRIDEiQ96QS3
ProteomicsDBi77895

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000379044; ENSP00000368332; ENSG00000004848
GeneIDi170302
KEGGihsa:170302
UCSCiuc004dbp.5 human

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
170302
DisGeNETi170302

GeneCards: human genes, protein and diseases

More...
GeneCardsi
ARX
HGNCiHGNC:18060 ARX
MalaCardsiARX
MIMi300004 phenotype
300215 phenotype
300382 gene
300419 phenotype
308350 phenotype
309510 phenotype
neXtProtiNX_Q96QS3
OpenTargetsiENSG00000004848
Orphaneti2508 Corpus callosum agenesis-abnormal genitalia syndrome
1934 Early infantile epileptic encephalopathy
364063 Infantile epileptic-dyskinetic encephalopathy
94083 Partington syndrome
3451 West syndrome
452 X-linked lissencephaly with abnormal genitalia
777 X-linked non-syndromic intellectual disability
3175 X-linked spasticity-intellectual disability-epilepsy syndrome
PharmGKBiPA25024

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiKOG0490 Eukaryota
ENOG410YIJ3 LUCA
GeneTreeiENSGT00940000160633
HOGENOMiHOG000012381
InParanoidiQ96QS3
KOiK09452
OMAiHYLEGGP
OrthoDBi944129at2759
PhylomeDBiQ96QS3
TreeFamiTF350743

Enzyme and pathway databases

SIGNORiQ96QS3

Miscellaneous databases

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
Aristaless_related_homeobox

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
170302

Protein Ontology

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PROi
PR:Q96QS3

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
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Gene expression databases

BgeeiENSG00000004848 Expressed in 95 organ(s), highest expression level in female gonad
ExpressionAtlasiQ96QS3 baseline and differential
GenevisibleiQ96QS3 HS

Family and domain databases

CDDicd00086 homeodomain, 1 hit
InterProiView protein in InterPro
IPR009057 Homeobox-like_sf
IPR017970 Homeobox_CS
IPR001356 Homeobox_dom
IPR003654 OAR_dom
PfamiView protein in Pfam
PF00046 Homeodomain, 1 hit
PF03826 OAR, 1 hit
SMARTiView protein in SMART
SM00389 HOX, 1 hit
SUPFAMiSSF46689 SSF46689, 1 hit
PROSITEiView protein in PROSITE
PS00027 HOMEOBOX_1, 1 hit
PS50071 HOMEOBOX_2, 1 hit
PS50803 OAR, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiARX_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q96QS3
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 27, 2003
Last sequence update: December 1, 2001
Last modified: May 8, 2019
This is version 157 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome X
    Human chromosome X: entries, gene names and cross-references to MIM
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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