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Q9UBX0

- HESX1_HUMAN

UniProt

Q9UBX0 - HESX1_HUMAN

Protein

Homeobox expressed in ES cells 1

Gene

HESX1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 129 (01 Oct 2014)
      Sequence version 1 (01 May 2000)
      Previous versions | rss
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    Functioni

    Required for the normal development of the forebrain, eyes and other anterior structures such as the olfactory placodes and pituitary gland. Possible transcriptional repressor. Binds to the palindromic PIII sequence, 5'-AGCTTGAGTCTAATTGAATTAACTGTAC-3'. HESX1 and PROP1 bind as heterodimers on this palindromic site, and, in vitro, HESX1 can antagonize PROP1 activation By similarity.By similarity

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    DNA bindingi108 – 16760HomeoboxPROSITE-ProRule annotationAdd
    BLAST

    GO - Molecular functioni

    1. chromatin binding Source: Ensembl
    2. DNA binding Source: ProtInc
    3. protein binding Source: IntAct
    4. sequence-specific DNA binding Source: InterPro
    5. sequence-specific DNA binding transcription factor activity Source: InterPro

    GO - Biological processi

    1. brain development Source: ProtInc
    2. forebrain morphogenesis Source: Ensembl
    3. negative regulation of transcription, DNA-templated Source: Ensembl
    4. nose development Source: Ensembl
    5. otic vesicle formation Source: Ensembl
    6. transcription, DNA-templated Source: UniProtKB-KW

    Keywords - Molecular functioni

    Developmental protein

    Keywords - Biological processi

    Transcription, Transcription regulation

    Keywords - Ligandi

    DNA-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Homeobox expressed in ES cells 1
    Alternative name(s):
    Homeobox protein ANF
    Short name:
    hAnf
    Gene namesi
    Name:HESX1
    Synonyms:HANF
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 3

    Organism-specific databases

    HGNCiHGNC:4877. HESX1.

    Subcellular locationi

    Nucleus Curated

    GO - Cellular componenti

    1. nucleus Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    Septooptic dysplasia (SOD) [MIM:182230]: A clinically heterogeneous disorder defined by any combination of optic nerve hypoplasia, pituitary gland hypoplasia with panhypopopituitarism, and midline abnormalities of the brain, including absence of the corpus callosum and septum pellucidum.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti160 – 1601R → C in SOD; loss of DNA-binding. 1 Publication
    Corresponds to variant rs28936702 [ dbSNP | Ensembl ].
    VAR_010225
    Natural varianti170 – 1701S → L in SOD; mild. 1 Publication
    VAR_063233
    Growth hormone deficiency with pituitary anomalies (GHDPA) [MIM:182230]: A disease characterized by low or absent growth hormone levels, in the presence of a hypoplastic anterior pituitary lobe and ectopic or absent posterior pituitary lobe.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti149 – 1491E → K in GHDPA; unable to repress PROP1-mediated activation. 1 Publication
    VAR_063232
    Natural varianti181 – 1811T → A in GHDPA. 1 Publication
    VAR_063234
    Pituitary hormone deficiency, combined, 5 (CPHD5) [MIM:182230]: Combined pituitary hormone deficiency is defined as the impaired production of growth hormone and one or more of the other five anterior pituitary hormones. CPHD5 is characterized by complete or partial deficiencies of growth hormone, thyroid-stimulating hormone, luteinizing hormone, follicle stimulating hormone and adrenocorticotropic hormone.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti6 – 61Q → H in CPHD5. 1 Publication
    VAR_063230
    Natural varianti26 – 261I → T in CPHD5; the mutated protein is associated with impaired transcriptional repression but not DNA binding. 1 Publication
    VAR_063231

    Keywords - Diseasei

    Disease mutation, Dwarfism

    Organism-specific databases

    MIMi182230. phenotype.
    262600. phenotype.
    Orphaneti95494. Combined pituitary hormone deficiencies, genetic forms.
    226307. Hypothyroidism due to deficient transcription factors involved in pituitary development or function.
    478. Kallmann syndrome.
    95496. Pituitary stalk interruption syndrome.
    3157. Septo-optic dysplasia.
    PharmGKBiPA29255.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 185185Homeobox expressed in ES cells 1PRO_0000048922Add
    BLAST

    Proteomic databases

    PaxDbiQ9UBX0.
    PRIDEiQ9UBX0.

    Expressioni

    Developmental stagei

    Strongly expressed in Rathke pouch in seven-week-old embryo.

    Gene expression databases

    ArrayExpressiQ9UBX0.
    BgeeiQ9UBX0.
    CleanExiHS_HESX1.
    GenevestigatoriQ9UBX0.

    Organism-specific databases

    HPAiHPA024187.

    Interactioni

    Subunit structurei

    Can form heterodimers with PROP1 in binding to DNA By similarity. Interacts with TLE1.By similarity1 Publication

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    KDM1AO603412EBI-8470369,EBI-710124
    PRMT6Q96LA82EBI-8470369,EBI-912440

    Protein-protein interaction databases

    BioGridi114347. 5 interactions.
    IntActiQ9UBX0. 2 interactions.
    MINTiMINT-8417673.
    STRINGi9606.ENSP00000295934.

    Structurei

    Secondary structure

    1
    185
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Helixi117 – 12711
    Helixi135 – 14511
    Helixi149 – 16416

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    2K40NMR-A108-174[»]
    ProteinModelPortaliQ9UBX0.
    SMRiQ9UBX0. Positions 108-174.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiQ9UBX0.

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the ANF homeobox family.Curated
    Contains 1 homeobox DNA-binding domain.PROSITE-ProRule annotation

    Keywords - Domaini

    Homeobox

    Phylogenomic databases

    eggNOGiNOG326168.
    HOGENOMiHOG000112889.
    HOVERGENiHBG004226.
    InParanoidiQ9UBX0.
    KOiK09354.
    OMAiHPMPEER.
    OrthoDBiEOG7WMCMW.
    PhylomeDBiQ9UBX0.
    TreeFamiTF335506.

    Family and domain databases

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

    Sequencei

    Sequence statusi: Complete.

    Q9UBX0-1 [UniParc]FASTAAdd to Basket

    « Hide

    MSPSLQEGAQ LGENKPSTCS FSIERILGLD QKKDCVPLMK PHRPWADTCS    50
    SSGKDGNLCL HVPNPPSGIS FPSVVDHPMP EERASKYENY FSASERLSLK 100
    RELSWYRGRR PRTAFTQNQI EVLENVFRVN CYPGIDIRED LAQKLNLEED 150
    RIQIWFQNRR AKLKRSHRES QFLMAKKNFN TNLLE 185
    Length:185
    Mass (Da):21,409
    Last modified:May 1, 2000 - v1
    Checksum:i1F23D319EB4FDBF0
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti6 – 61Q → H in CPHD5. 1 Publication
    VAR_063230
    Natural varianti26 – 261I → T in CPHD5; the mutated protein is associated with impaired transcriptional repression but not DNA binding. 1 Publication
    VAR_063231
    Natural varianti125 – 1251N → S.1 Publication
    Corresponds to variant rs9878928 [ dbSNP | Ensembl ].
    VAR_010400
    Natural varianti149 – 1491E → K in GHDPA; unable to repress PROP1-mediated activation. 1 Publication
    VAR_063232
    Natural varianti160 – 1601R → C in SOD; loss of DNA-binding. 1 Publication
    Corresponds to variant rs28936702 [ dbSNP | Ensembl ].
    VAR_010225
    Natural varianti170 – 1701S → L in SOD; mild. 1 Publication
    VAR_063233
    Natural varianti181 – 1811T → A in GHDPA. 1 Publication
    VAR_063234

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF059734 Genomic DNA. Translation: AAC24523.1.
    U82811 mRNA. Translation: AAB88275.1.
    U65437 Genomic DNA. Translation: AAB39561.1.
    BC069515 mRNA. Translation: AAH69515.1.
    BC093979 mRNA. Translation: AAH93979.1.
    BC112089 mRNA. Translation: AAI12090.1.
    CCDSiCCDS2881.1.
    RefSeqiNP_003856.1. NM_003865.2.
    XP_005265583.1. XM_005265526.2.
    XP_006713442.1. XM_006713379.1.
    UniGeneiHs.171980.

    Genome annotation databases

    EnsembliENST00000295934; ENSP00000295934; ENSG00000163666.
    GeneIDi8820.
    KEGGihsa:8820.
    UCSCiuc003din.4. human.

    Polymorphism databases

    DMDMi12230168.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF059734 Genomic DNA. Translation: AAC24523.1 .
    U82811 mRNA. Translation: AAB88275.1 .
    U65437 Genomic DNA. Translation: AAB39561.1 .
    BC069515 mRNA. Translation: AAH69515.1 .
    BC093979 mRNA. Translation: AAH93979.1 .
    BC112089 mRNA. Translation: AAI12090.1 .
    CCDSi CCDS2881.1.
    RefSeqi NP_003856.1. NM_003865.2.
    XP_005265583.1. XM_005265526.2.
    XP_006713442.1. XM_006713379.1.
    UniGenei Hs.171980.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    2K40 NMR - A 108-174 [» ]
    ProteinModelPortali Q9UBX0.
    SMRi Q9UBX0. Positions 108-174.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 114347. 5 interactions.
    IntActi Q9UBX0. 2 interactions.
    MINTi MINT-8417673.
    STRINGi 9606.ENSP00000295934.

    Polymorphism databases

    DMDMi 12230168.

    Proteomic databases

    PaxDbi Q9UBX0.
    PRIDEi Q9UBX0.

    Protocols and materials databases

    DNASUi 8820.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000295934 ; ENSP00000295934 ; ENSG00000163666 .
    GeneIDi 8820.
    KEGGi hsa:8820.
    UCSCi uc003din.4. human.

    Organism-specific databases

    CTDi 8820.
    GeneCardsi GC03M057207.
    HGNCi HGNC:4877. HESX1.
    HPAi HPA024187.
    MIMi 182230. phenotype.
    262600. phenotype.
    601802. gene.
    neXtProti NX_Q9UBX0.
    Orphaneti 95494. Combined pituitary hormone deficiencies, genetic forms.
    226307. Hypothyroidism due to deficient transcription factors involved in pituitary development or function.
    478. Kallmann syndrome.
    95496. Pituitary stalk interruption syndrome.
    3157. Septo-optic dysplasia.
    PharmGKBi PA29255.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG326168.
    HOGENOMi HOG000112889.
    HOVERGENi HBG004226.
    InParanoidi Q9UBX0.
    KOi K09354.
    OMAi HPMPEER.
    OrthoDBi EOG7WMCMW.
    PhylomeDBi Q9UBX0.
    TreeFami TF335506.

    Miscellaneous databases

    ChiTaRSi HESX1. human.
    EvolutionaryTracei Q9UBX0.
    GeneWikii HESX1.
    GenomeRNAii 8820.
    NextBioi 33086.
    PROi Q9UBX0.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9UBX0.
    Bgeei Q9UBX0.
    CleanExi HS_HESX1.
    Genevestigatori Q9UBX0.

    Family and domain databases

    Gene3Di 1.10.10.60. 1 hit.
    InterProi IPR017970. Homeobox_CS.
    IPR001356. Homeobox_dom.
    IPR009057. Homeodomain-like.
    [Graphical view ]
    Pfami PF00046. Homeobox. 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.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT SOD CYS-160, VARIANT SER-125.
      Tissue: Fibrosarcoma.
    2. "Anf: a novel class of vertebrate homeobox genes expressed at the anterior end of the main embryonic axis."
      Kazanskaya O.V., Severtzova E.A., Barth K.A., Ermakova G.V., Lukyanov S.A., Benyumov A.O., Pannese M., Boncinelli E., Wilson S.W., Zaraisky A.G.
      Gene 200:25-34(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
      Tissue: Teratocarcinoma.
    3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    4. "Temporal regulation of a paired-like homeodomain repressor/TLE corepressor complex and a related activator is required for pituitary organogenesis."
      Dasen J.S., Martinez-Barbera J.-P., Herman T.S., O'Connell S., Olson L., Ju B., Tollkuhn J., Baek S.H., Rose D.W., Rosenfeld M.G.
      Genes Dev. 15:3193-3207(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH TLE1.
    5. "Role of conserved salt bridges in homeodomain stability and DNA binding."
      Torrado M., Revuelta J., Gonzalez C., Corzana F., Bastida A., Asensio J.L.
      J. Biol. Chem. 284:23765-23779(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: STRUCTURE BY NMR OF 108-174, DNA-BINDING.
    6. "Heterozygous HESX1 mutations associated with isolated congenital pituitary hypoplasia and septo-optic dysplasia."
      Thomas P.Q., Dattani M.T., Brickman J.M., McNay D., Warne G., Zacharin M., Cameron F., Hurst J., Woods K., Dunger D., Stanhope R., Forrest S., Robinson I.C., Beddington R.S.
      Hum. Mol. Genet. 10:39-45(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT SOD LEU-170, VARIANT GHDPA ALA-181, VARIANT CPHD5 HIS-6.
    7. "A homozygous mutation in HESX1 is associated with evolving hypopituitarism due to impaired repressor-corepressor interaction."
      Carvalho L.R., Woods K.S., Mendonca B.B., Marcal N., Zamparini A.L., Stifani S., Brickman J.M., Arnhold I.J., Dattani M.T.
      J. Clin. Invest. 112:1192-1201(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT CPHD5 THR-26, CHARACTERIZATION OF VARIANT CPHD5 THR-26.
    8. Cited for: VARIANT GHDPA LYS-149, CHARACTERIZATION OF VARIANT GHDPA LYS-149.

    Entry informationi

    Entry nameiHESX1_HUMAN
    AccessioniPrimary (citable) accession number: Q9UBX0
    Secondary accession number(s): Q52LC5, Q99667
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: January 11, 2001
    Last sequence update: May 1, 2000
    Last modified: October 1, 2014
    This is version 129 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

    3D-structure, Complete proteome, Reference proteome

    Documents

    1. Human chromosome 3
      Human chromosome 3: 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. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3