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Q96QS3

- ARX_HUMAN

UniProt

Q96QS3 - ARX_HUMAN

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Protein

Homeobox protein ARX

Gene

ARX

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- 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)LengthDescriptionGraphical viewFeature identifierActions
DNA bindingi328 – 38760HomeoboxPROSITE-ProRule annotationAdd
BLAST

GO - Molecular functioni

  1. chromatin binding Source: Ensembl
  2. RNA polymerase II distal enhancer sequence-specific DNA binding Source: Ensembl
  3. RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription Source: Ensembl

GO - Biological processi

  1. axon guidance Source: Ensembl
  2. cell proliferation in forebrain Source: Ensembl
  3. cerebral cortex GABAergic interneuron migration Source: Ensembl
  4. cerebral cortex tangential migration Source: Ensembl
  5. embryonic olfactory bulb interneuron precursor migration Source: Ensembl
  6. epithelial cell fate commitment Source: Ensembl
  7. globus pallidus development Source: Ensembl
  8. lipid digestion Source: Ensembl
  9. positive regulation of organ growth Source: Ensembl
  10. regulation of cell proliferation Source: Ensembl
Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Biological processi

Differentiation, Neurogenesis, Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

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
ProteomesiUP000005640: Chromosome X

Organism-specific databases

HGNCiHGNC:18060. ARX.

Subcellular locationi

Nucleus PROSITE-ProRule annotation

GO - Cellular componenti

  1. nucleus Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Lissencephaly, X-linked 2 (LISX2) [MIM:300215]: A 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.2 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti332 – 3321R → H in LISX2. 2 Publications
Corresponds to variant rs28936075 [ dbSNP | Ensembl ].
VAR_015178
Natural varianti332 – 3321R → P in LISX2. 1 Publication
VAR_033260
Natural varianti343 – 3431L → Q in LISX2. 2 Publications
Corresponds to variant rs28936076 [ dbSNP | Ensembl ].
VAR_015179
Natural varianti353 – 3531P → R in LISX2. 1 Publication
VAR_033262
Natural varianti521 – 5211A → T in LISX2; severe phenotype. 1 Publication
VAR_033263
Epileptic encephalopathy, early infantile, 1 (EIEE1) [MIM:308350]: A 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.2 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti115 – 1151A → AAAAAAAA in EIEE1.
VAR_015177
Natural varianti155 – 1551A → AAAAAAAAA in EIEE1 and PRTS; also found in non-specific mental retardation families; frequent mutation. 2 Publications
VAR_015670
Natural varianti353 – 3531P → L in EIEE1. 1 Publication
Corresponds to variant rs28936074 [ dbSNP | Ensembl ].
VAR_015180
Partington syndrome (PRTS) [MIM:309510]: Characterized by mental retardation, episodic dystonic hand movements, and dysarthria.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti155 – 1551A → AAAAAAAAA in EIEE1 and PRTS; also found in non-specific mental retardation families; frequent mutation. 2 Publications
VAR_015670
Mental retardation, X-linked, ARX-related (MRXARX) [MIM:300419]: A 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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti33 – 331L → P in MRXARX. 1 Publication
Corresponds to variant rs28936077 [ dbSNP | Ensembl ].
VAR_015669
Natural varianti286 – 2861G → S in MRXARX. 1 Publication
Corresponds to variant rs28935479 [ dbSNP | Ensembl ].
VAR_015671
Agenesis of the corpus callosum, with abnormal genitalia (ACCAG) [MIM:300004]: A 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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti333 – 3331T → N in ACCAG. 1 Publication
Corresponds to variant rs28936078 [ dbSNP | Ensembl ].
VAR_033261

Keywords - Diseasei

Disease mutation, Epilepsy, Lissencephaly, Mental retardation

Organism-specific databases

MIMi300004. phenotype.
300215. phenotype.
300419. phenotype.
308350. phenotype.
309510. phenotype.
Orphaneti1934. Early infantile epileptic encephalopathy.
364063. Infantile epileptic-dyskinetic encephalopathy.
2508. Micrencephaly - corpus callosum agenesis - abnormal genitalia.
94083. Partington syndrome.
3175. Spasticity - intellectual disability - X-linked epilepsy.
3451. West syndrome.
452. X-linked lissencephaly with abnormal genitalia.
777. X-linked non-syndromic intellectual disability.
PharmGKBiPA25024.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 562562Homeobox protein ARXPRO_0000048819Add
BLAST

Proteomic databases

PaxDbiQ96QS3.
PRIDEiQ96QS3.

PTM databases

PhosphoSiteiQ96QS3.

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

BgeeiQ96QS3.
CleanExiHS_ARX.
GenevestigatoriQ96QS3.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000368332.

Structurei

3D structure databases

ProteinModelPortaliQ96QS3.
SMRiQ96QS3. Positions 329-385.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi530 – 54314OARAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi100 – 15556Ala-richAdd
BLAST
Compositional biasi224 – 25330Glu-richAdd
BLAST
Compositional biasi395 – 45965Pro-richAdd
BLAST
Compositional biasi425 – 544120Ala-richAdd
BLAST

Sequence similaritiesi

Contains 1 homeobox DNA-binding domain.PROSITE-ProRule annotation

Keywords - Domaini

Homeobox

Phylogenomic databases

eggNOGiNOG313402.
GeneTreeiENSGT00760000118958.
HOGENOMiHOG000012381.
HOVERGENiHBG004285.
InParanoidiQ96QS3.
KOiK09452.
OMAiCKVRLIG.
OrthoDBiEOG7XPZ60.
PhylomeDBiQ96QS3.
TreeFamiTF350743.

Family and domain databases

Gene3Di1.10.10.60. 1 hit.
InterProiIPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR009057. Homeodomain-like.
IPR003654. OAR_dom.
[Graphical view]
PfamiPF00046. Homeobox. 1 hit.
PF03826. OAR. 1 hit.
[Graphical view]
SMARTiSM00389. HOX. 1 hit.
[Graphical view]
SUPFAMiSSF46689. SSF46689. 1 hit.
PROSITEiPS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
PS50803. OAR. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

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

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti33 – 331L → P in MRXARX. 1 Publication
Corresponds to variant rs28936077 [ dbSNP | Ensembl ].
VAR_015669
Natural varianti115 – 1151A → AAAAAAAA in EIEE1.
VAR_015177
Natural varianti155 – 1551A → AAAAAAAAA in EIEE1 and PRTS; also found in non-specific mental retardation families; frequent mutation. 2 Publications
VAR_015670
Natural varianti286 – 2861G → S in MRXARX. 1 Publication
Corresponds to variant rs28935479 [ dbSNP | Ensembl ].
VAR_015671
Natural varianti332 – 3321R → H in LISX2. 2 Publications
Corresponds to variant rs28936075 [ dbSNP | Ensembl ].
VAR_015178
Natural varianti332 – 3321R → P in LISX2. 1 Publication
VAR_033260
Natural varianti333 – 3331T → N in ACCAG. 1 Publication
Corresponds to variant rs28936078 [ dbSNP | Ensembl ].
VAR_033261
Natural varianti343 – 3431L → Q in LISX2. 2 Publications
Corresponds to variant rs28936076 [ dbSNP | Ensembl ].
VAR_015179
Natural varianti353 – 3531P → L in EIEE1. 1 Publication
Corresponds to variant rs28936074 [ dbSNP | Ensembl ].
VAR_015180
Natural varianti353 – 3531P → R in LISX2. 1 Publication
VAR_033262
Natural varianti521 – 5211A → T in LISX2; severe phenotype. 1 Publication
VAR_033263

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.4. human.

Polymorphism databases

DMDMi27923733.

Keywords - Coding sequence diversityi

Triplet repeat expansion

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AY038071 mRNA. Translation: AAK93901.1 .
CCDSi CCDS14215.1.
RefSeqi NP_620689.1. NM_139058.2.
UniGenei Hs.300304.

3D structure databases

ProteinModelPortali Q96QS3.
SMRi Q96QS3. Positions 329-385.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

STRINGi 9606.ENSP00000368332.

PTM databases

PhosphoSitei Q96QS3.

Polymorphism databases

DMDMi 27923733.

Proteomic databases

PaxDbi Q96QS3.
PRIDEi Q96QS3.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000379044 ; ENSP00000368332 ; ENSG00000004848 .
GeneIDi 170302.
KEGGi hsa:170302.
UCSCi uc004dbp.4. human.

Organism-specific databases

CTDi 170302.
GeneCardsi GC0XM025021.
HGNCi HGNC:18060. ARX.
MIMi 300004. phenotype.
300215. phenotype.
300382. gene.
300419. phenotype.
308350. phenotype.
309510. phenotype.
neXtProti NX_Q96QS3.
Orphaneti 1934. Early infantile epileptic encephalopathy.
364063. Infantile epileptic-dyskinetic encephalopathy.
2508. Micrencephaly - corpus callosum agenesis - abnormal genitalia.
94083. Partington syndrome.
3175. Spasticity - intellectual disability - X-linked epilepsy.
3451. West syndrome.
452. X-linked lissencephaly with abnormal genitalia.
777. X-linked non-syndromic intellectual disability.
PharmGKBi PA25024.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG313402.
GeneTreei ENSGT00760000118958.
HOGENOMi HOG000012381.
HOVERGENi HBG004285.
InParanoidi Q96QS3.
KOi K09452.
OMAi CKVRLIG.
OrthoDBi EOG7XPZ60.
PhylomeDBi Q96QS3.
TreeFami TF350743.

Miscellaneous databases

GeneWikii Aristaless_related_homeobox.
GenomeRNAii 170302.
NextBioi 88881.
PROi Q96QS3.
SOURCEi Search...

Gene expression databases

Bgeei Q96QS3.
CleanExi HS_ARX.
Genevestigatori Q96QS3.

Family and domain databases

Gene3Di 1.10.10.60. 1 hit.
InterProi IPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR009057. Homeodomain-like.
IPR003654. OAR_dom.
[Graphical view ]
Pfami PF00046. Homeobox. 1 hit.
PF03826. OAR. 1 hit.
[Graphical view ]
SMARTi SM00389. HOX. 1 hit.
[Graphical view ]
SUPFAMi SSF46689. SSF46689. 1 hit.
PROSITEi PS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
PS50803. OAR. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

  1. Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY.
  2. "Variable expression of mental retardation, autism, seizures, and dystonic hand movements in two families with an identical ARX gene mutation."
    Turner G., Partington M., Kerr B., Mangelsdorf M., Gecz J.
    Am. J. Med. Genet. 112:405-411(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT EIEE1 ALA-ALA-ALA-ALA-ALA-ALA-ALA-ALA-155 INS.
  3. Cited for: VARIANTS MRXARX PRO-33 AND SER-286, TISSUE SPECIFICITY.
  4. Cited for: VARIANTS EIEE1 ALA-ALA-ALA-ALA-ALA-ALA-ALA-115 INS; ALA-ALA-ALA-ALA-ALA-ALA-ALA-ALA-155 INS AND LEU-353, VARIANT PRTS ALA-ALA-ALA-ALA-ALA-ALA-ALA-ALA-155 INS, TISSUE SPECIFICITY.
  5. "Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans."
    Kitamura K., Yanazawa M., Sugiyama N., Miura H., Iizuka-Kogo A., Kusaka M., Omichi K., Suzuki R., Kato-Fukui Y., Kamiirisa K., Matsuo M., Kamijo S., Kasahara M., Yoshioka H., Ogata T., Fukuda T., Kondo I., Kato M.
    , Dobyns W.B., Yokoyama M., Morohashi K.
    Nat. Genet. 32:359-369(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS LISX2 HIS-332 AND GLN-343.
  6. Cited for: VARIANTS LISX2 PRO-332; HIS-332; GLN-343; ARG-353 AND THR-521, VARIANT ACCAG ASN-333.

Entry informationi

Entry nameiARX_HUMAN
AccessioniPrimary (citable) accession number: Q96QS3
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 27, 2003
Last sequence update: December 1, 2001
Last modified: October 29, 2014
This is version 125 of the entry and version 1 of the sequence. [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. Human chromosome X
    Human chromosome X: entries, gene names and cross-references to MIM
  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. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3