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Q96QS3

- ARX_HUMAN

UniProt

Q96QS3 - ARX_HUMAN

Protein

Homeobox protein ARX

Gene

ARX

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 124 (01 Oct 2014)
      Sequence version 1 (01 Dec 2001)
      Previous versions | rss
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    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. sequence-specific DNA binding Source: InterPro
    3. sequence-specific DNA binding transcription factor activity Source: InterPro

    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
    11. transcription, DNA-templated Source: UniProtKB-KW

    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-SubCell

    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.
    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

    MSNQYQEEGC SERPECKSKS PTLLSSYCID SILGRRSPCK MRLLGAAQSL    50
    PAPLTSRADP EKAVQGSPKS SSAPFEAELH LPPKLRRLYG PGGGRLLQGA 100
    AAAAAAAAAA AAAAATATAG PRGEAPPPPP PTARPGERPD GAGAAAAAAA 150
    AAAAAWDTLK ISQAPQVSIS RSKSYRENGA PFVPPPPALD ELGGPGGVTH 200
    PEERLGVAGG PGSAPAAGGG TGTEDDEEEL LEDEEDEDEE EELLEDDEEE 250
    LLEDDARALL KEPRRCPVAA TGAVAAAAAA AVATEGGELS PKEELLLHPE 300
    DAEGKDGEDS VCLSAGSDSE EGLLKRKQRR YRTTFTSYQL EELERAFQKT 350
    HYPDVFTREE LAMRLDLTEA RVQVWFQNRR AKWRKREKAG AQTHPPGLPF 400
    PGPLSATHPL SPYLDASPFP PHHPALDSAW TAAAAAAAAA FPSLPPPPGS 450
    ASLPPSGAPL GLSTFLGAAV FRHPAFISPA FGRLFSTMAP LTSASTAAAL 500
    LRQPTPAVEG AVASGALADP ATAAADRRAS SIAALRLKAK EHAAQLTQLN 550
    ILPGTSTGKE VC 562
    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.
    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 1, 2014
    This is version 124 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