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Q8N693

- ESX1_HUMAN

UniProt

Q8N693 - ESX1_HUMAN

Protein

Homeobox protein ESX1

Gene

ESX1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 104 (01 Oct 2014)
      Sequence version 3 (17 Oct 2006)
      Previous versions | rss
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    Functioni

    May coordinately regulate cell cycle progression and transcription during spermatogenesis. Inhibits degradation of polyubiquitinated cyclin A and cyclin B1 and thereby arrests the cell cycle at early M phase. ESXR1-N acts as a transcriptional repressor. Binds to the sequence 5'-TAATGTTATTA-3' which is present within the first intron of the KRAS gene and inhibits its expression. ESXR1-C has the ability to inhibit cyclin turnover.2 Publications

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    DNA bindingi139 – 19860HomeoboxPROSITE-ProRule annotationAdd
    BLAST

    GO - Molecular functioni

    1. RNA polymerase II regulatory region sequence-specific DNA binding Source: NTNU_SB
    2. RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription Source: NTNU_SB
    3. sequence-specific DNA binding Source: UniProtKB

    GO - Biological processi

    1. labyrinthine layer blood vessel development Source: Ensembl
    2. labyrinthine layer morphogenesis Source: Ensembl
    3. negative regulation of transcription, DNA-templated Source: UniProtKB
    4. negative regulation of transcription from RNA polymerase II promoter Source: NTNU_SB
    5. regulation of cell cycle Source: UniProtKB

    Keywords - Molecular functioni

    Repressor

    Keywords - Biological processi

    Transcription, Transcription regulation

    Keywords - Ligandi

    DNA-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Homeobox protein ESX1
    Alternative name(s):
    Extraembryonic, spermatogenesis, homeobox 1
    Cleaved into the following 2 chains:
    Gene namesi
    Name:ESX1
    Synonyms:ESX1L, ESX1R
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome X

    Organism-specific databases

    HGNCiHGNC:14865. ESX1.

    Subcellular locationi

    Cytoplasm 1 Publication. Nucleus 1 PublicationPROSITE-ProRule annotation
    Note: ESXR1-N localizes specifically to the nucleus while ESXR1-C localizes specifically to the cytoplasm.

    GO - Cellular componenti

    1. cytoplasm Source: UniProtKB
    2. nucleus Source: UniProtKB

    Keywords - Cellular componenti

    Cytoplasm, Nucleus

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA27892.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini? – 406Homeobox protein ESX1-CPRO_0000386626
    Chaini1 – 406406Homeobox protein ESX1PRO_0000048876Add
    BLAST
    Chaini1 – ?Homeobox protein ESX1-NPRO_0000386625

    Post-translational modificationi

    Undergoes proteolytic cleavage; produces a 45 kDa N-terminal homeodomain-containing fragment (ESXR1-N) and a 20 kDa C-terminal fragment (ESXR1-C).1 Publication

    Proteomic databases

    PaxDbiQ8N693.
    PRIDEiQ8N693.

    PTM databases

    PhosphoSiteiQ8N693.

    Expressioni

    Tissue specificityi

    Expressed in placenta and testis. Expressed in testicular germ cell tumors.2 Publications

    Gene expression databases

    ArrayExpressiQ8N693.
    BgeeiQ8N693.
    CleanExiHS_ESX1.
    GenevestigatoriQ8N693.

    Organism-specific databases

    HPAiHPA051992.

    Interactioni

    Protein-protein interaction databases

    BioGridi123270. 3 interactions.
    IntActiQ8N693. 3 interactions.
    MINTiMINT-7970367.
    STRINGi9606.ENSP00000361669.

    Structurei

    3D structure databases

    ProteinModelPortaliQ8N693.
    SMRiQ8N693. Positions 138-199.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Repeati244 – 25291
    Repeati253 – 26192
    Repeati262 – 27093
    Repeati271 – 27994
    Repeati280 – 28895
    Repeati289 – 29796
    Repeati298 – 30697
    Repeati307 – 31598
    Repeati316 – 32499
    Repeati325 – 333910
    Repeati334 – 342911
    Repeati343 – 351912
    Repeati352 – 360913
    Repeati361 – 369914
    Repeati370 – 378915

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni244 – 37813515 X 9 AA tandem repeats of P-P-x-x-P-x-P-P-xAdd
    BLAST

    Motif

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Motifi138 – 1436Nuclear localization signalSequence Analysis

    Sequence similaritiesi

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

    Keywords - Domaini

    Homeobox, Repeat

    Phylogenomic databases

    eggNOGiNOG264325.
    HOGENOMiHOG000198273.
    HOVERGENiHBG084082.
    InParanoidiQ8N693.
    OMAiGPPMTPM.
    OrthoDBiEOG76DTVC.
    PhylomeDBiQ8N693.
    TreeFamiTF315976.

    Family and domain databases

    Gene3Di1.10.10.60. 1 hit.
    InterProiIPR017970. Homeobox_CS.
    IPR001356. Homeobox_dom.
    IPR009057. Homeodomain-like.
    IPR013847. POU.
    [Graphical view]
    PfamiPF00046. Homeobox. 1 hit.
    [Graphical view]
    PRINTSiPR00028. POUDOMAIN.
    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.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    Q8N693-1 [UniParc]FASTAAdd to Basket

    « Hide

    MESLRGYTHS DIGYRSLAVG EDIEEVNDEK LTVTSLMARG GEDEENTRSK    50
    PEYGTEAENN VGTEGSVPSD DQDREGGGGH EPEQQQEEPP LTKPEQQQEE 100
    PPLLELKQEQ EEPPQTTVEG PQPAEGPQTA EGPQPPERKR RRRTAFTQFQ 150
    LQELENFFDE SQYPDVVARE RLAARLNLTE DRVQVWFQNR RAKWKRNQRV 200
    LMLRNTATAD LAHPLDMFLG GAYYAAPALD PALCVHLVPQ LPRPPVLPVP 250
    PMPPRPPMVP MPPRPPIAPM PPMAPVPPGS RMAPVPPGPR MAPVPPWPPM 300
    APVPPWPPMA PVPTGPPMAP VPPGPPMARV PPGPPMARVP PGPPMAPLPP 350
    GPPMAPLPPG PPMAPLPPGP PMAPLPPRSH VPHTGLAPVH ITWAPVINSY 400
    YACPFF 406
    Length:406
    Mass (Da):44,297
    Last modified:October 17, 2006 - v3
    Checksum:i7013E3986F1148FA
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti320 – 3201P → R in AAH42633. (PubMed:15489334)Curated
    Sequence conflicti320 – 3201P → R in AAH53599. (PubMed:15489334)Curated
    Sequence conflicti338 – 3392RV → PL in AAH42633. (PubMed:15489334)Curated
    Sequence conflicti338 – 3392RV → PL in AAH53599. (PubMed:15489334)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti314 – 3141T → P.
    Corresponds to variant rs9697856 [ dbSNP | Ensembl ].
    VAR_059352

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY114148 mRNA. Translation: AAM62141.1.
    AL049631 Genomic DNA. Translation: CAQ08095.1.
    CH471120 Genomic DNA. Translation: EAX02755.1.
    BC042633 mRNA. Translation: AAH42633.1.
    BC053599 mRNA. Translation: AAH53599.1.
    CCDSiCCDS14516.1.
    RefSeqiNP_703149.1. NM_153448.3.
    UniGeneiHs.223782.

    Genome annotation databases

    EnsembliENST00000372588; ENSP00000361669; ENSG00000123576.
    GeneIDi80712.
    KEGGihsa:80712.
    UCSCiuc004ely.3. human.

    Polymorphism databases

    DMDMi116241356.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY114148 mRNA. Translation: AAM62141.1 .
    AL049631 Genomic DNA. Translation: CAQ08095.1 .
    CH471120 Genomic DNA. Translation: EAX02755.1 .
    BC042633 mRNA. Translation: AAH42633.1 .
    BC053599 mRNA. Translation: AAH53599.1 .
    CCDSi CCDS14516.1.
    RefSeqi NP_703149.1. NM_153448.3.
    UniGenei Hs.223782.

    3D structure databases

    ProteinModelPortali Q8N693.
    SMRi Q8N693. Positions 138-199.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 123270. 3 interactions.
    IntActi Q8N693. 3 interactions.
    MINTi MINT-7970367.
    STRINGi 9606.ENSP00000361669.

    PTM databases

    PhosphoSitei Q8N693.

    Polymorphism databases

    DMDMi 116241356.

    Proteomic databases

    PaxDbi Q8N693.
    PRIDEi Q8N693.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000372588 ; ENSP00000361669 ; ENSG00000123576 .
    GeneIDi 80712.
    KEGGi hsa:80712.
    UCSCi uc004ely.3. human.

    Organism-specific databases

    CTDi 80712.
    GeneCardsi GC0XM103494.
    HGNCi HGNC:14865. ESX1.
    HPAi HPA051992.
    MIMi 300154. gene.
    neXtProti NX_Q8N693.
    PharmGKBi PA27892.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG264325.
    HOGENOMi HOG000198273.
    HOVERGENi HBG084082.
    InParanoidi Q8N693.
    OMAi GPPMTPM.
    OrthoDBi EOG76DTVC.
    PhylomeDBi Q8N693.
    TreeFami TF315976.

    Miscellaneous databases

    GeneWikii ESX1.
    GenomeRNAii 80712.
    NextBioi 71013.
    PROi Q8N693.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q8N693.
    Bgeei Q8N693.
    CleanExi HS_ESX1.
    Genevestigatori Q8N693.

    Family and domain databases

    Gene3Di 1.10.10.60. 1 hit.
    InterProi IPR017970. Homeobox_CS.
    IPR001356. Homeobox_dom.
    IPR009057. Homeodomain-like.
    IPR013847. POU.
    [Graphical view ]
    Pfami PF00046. Homeobox. 1 hit.
    [Graphical view ]
    PRINTSi PR00028. POUDOMAIN.
    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. "ESX1L, a novel X chromosome-linked human homeobox gene expressed in the placenta and testis."
      Fohn L.E., Behringer R.R.
      Genomics 74:105-108(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY.
      Tissue: Germ cell.
    2. "Paired-like homeodomain protein ESXR1 possesses a cleavable C-terminal region that inhibits cyclin degradation."
      Ozawa H., Ashizawa S., Naito M., Yanagihara M., Ohnishi N., Maeda T., Matsuda Y., Jo Y., Higashi H., Kakita A., Hatakeyama M.
      Oncogene 23:6590-6602(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, PROTEOLYTIC PROCESSING, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
    3. "The DNA sequence of the human X chromosome."
      Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C.
      , Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A., Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P., Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D., Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D., Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L., Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P., Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G., Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J., Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D., Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L., Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z., Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S., Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S., Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O., Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H., Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T., Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L., Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R., Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y., Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K., Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J., Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L., Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S., Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A., Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L., Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D., Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H., McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S., Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C., Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S., Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V., Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K., Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K., Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D., Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R., Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B., Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C., d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q., Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N., Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A., Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J., Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A., Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F., Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L., Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S., Rogers J., Bentley D.R.
      Nature 434:325-337(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. "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].
      Tissue: Brain.
    6. "Paired-like homeoprotein ESXR1 acts as a sequence-specific transcriptional repressor of the human K-ras gene."
      Yanagihara M., Ishikawa S., Naito M., Nakajima J., Aburatani H., Hatakeyama M.
      Oncogene 24:5878-5887(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION.

    Entry informationi

    Entry nameiESX1_HUMAN
    AccessioniPrimary (citable) accession number: Q8N693
    Secondary accession number(s): B0QYU3, Q7Z6K7
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: June 7, 2004
    Last sequence update: October 17, 2006
    Last modified: October 1, 2014
    This is version 104 of the entry and version 3 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