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Protein

Homeobox protein ARX

Gene

ARX

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

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
DNA bindingi328 – 387HomeoboxPROSITE-ProRule annotationAdd BLAST60

GO - Molecular functioni

GO - Biological processi

Keywordsi

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

Enzyme and pathway databases

SIGNORiQ96QS3

Names & Taxonomyi

Protein namesi
Recommended name:
Homeobox protein ARX
Alternative name(s):
Aristaless-related homeobox
Gene namesi
Name:ARX
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome X

Organism-specific databases

EuPathDBiHostDB:ENSG00000004848.6
HGNCiHGNC:18060 ARX
MIMi300382 gene
neXtProtiNX_Q96QS3

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; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

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
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_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
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

DisGeNETi170302
MalaCardsiARX
MIMi300004 phenotype
300215 phenotype
300419 phenotype
308350 phenotype
309510 phenotype
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

Polymorphism and mutation databases

BioMutaiARX
DMDMi27923733

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000488191 – 562Homeobox protein ARXAdd BLAST562

Proteomic databases

EPDiQ96QS3
PaxDbiQ96QS3
PeptideAtlasiQ96QS3
PRIDEiQ96QS3
ProteomicsDBi77895

PTM databases

iPTMnetiQ96QS3
PhosphoSitePlusiQ96QS3

Expressioni

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

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

Interactioni

Protein-protein interaction databases

BioGridi127998, 17 interactors
IntActiQ96QS3, 18 interactors
STRINGi9606.ENSP00000368332

Structurei

3D structure databases

ProteinModelPortaliQ96QS3
SMRiQ96QS3
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi530 – 543OARPROSITE-ProRule annotationAdd BLAST14

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi100 – 155Ala-richAdd BLAST56
Compositional biasi224 – 253Glu-richAdd BLAST30
Compositional biasi395 – 459Pro-richAdd BLAST65
Compositional biasi425 – 544Ala-richAdd BLAST120

Sequence similaritiesi

Keywords - Domaini

Homeobox

Phylogenomic databases

eggNOGiKOG0490 Eukaryota
ENOG410YIJ3 LUCA
GeneTreeiENSGT00900000140809
HOGENOMiHOG000012381
HOVERGENiHBG004285
InParanoidiQ96QS3
KOiK09452
OMAiIGPTFGR
OrthoDBiEOG091G0S4E
PhylomeDBiQ96QS3
TreeFamiTF350743

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 Homeobox, 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

Sequence (1+)i

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
Checksum:iFBDF41E387C65532
GO

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:

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:
EMBLi
GenBanki
DDBJi
Links Updated
AY038071 mRNA Translation: AAK93901.1
CCDSiCCDS14215.1
RefSeqiNP_620689.1, NM_139058.2
UniGeneiHs.300304

Genome annotation databases

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

Keywords - Coding sequence diversityi

Triplet repeat expansion

Similar proteinsi

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
UniGeneiHs.300304

3D structure databases

ProteinModelPortaliQ96QS3
SMRiQ96QS3
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi127998, 17 interactors
IntActiQ96QS3, 18 interactors
STRINGi9606.ENSP00000368332

PTM databases

iPTMnetiQ96QS3
PhosphoSitePlusiQ96QS3

Polymorphism and mutation databases

BioMutaiARX
DMDMi27923733

Proteomic databases

EPDiQ96QS3
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

CTDi170302
DisGeNETi170302
EuPathDBiHostDB:ENSG00000004848.6
GeneCardsiARX
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
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0490 Eukaryota
ENOG410YIJ3 LUCA
GeneTreeiENSGT00900000140809
HOGENOMiHOG000012381
HOVERGENiHBG004285
InParanoidiQ96QS3
KOiK09452
OMAiIGPTFGR
OrthoDBiEOG091G0S4E
PhylomeDBiQ96QS3
TreeFamiTF350743

Enzyme and pathway databases

SIGNORiQ96QS3

Miscellaneous databases

GeneWikiiAristaless_related_homeobox
GenomeRNAii170302
PROiPR:Q96QS3
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000004848 Expressed in 95 organ(s), highest expression level in female gonad
CleanExiHS_ARX
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 Homeobox, 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
ProtoNetiSearch...

Entry informationi

Entry nameiARX_HUMAN
AccessioniPrimary (citable) accession number: Q96QS3
Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 27, 2003
Last sequence update: December 1, 2001
Last modified: November 7, 2018
This is version 153 of the entry and version 1 of the sequence. See complete history.
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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

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