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Q08117

- AES_HUMAN

UniProt

Q08117 - AES_HUMAN

Protein

Amino-terminal enhancer of split

Gene

AES

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 131 (01 Oct 2014)
      Sequence version 4 (19 Sep 2002)
      Previous versions | rss
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    Functioni

    Transcriptional corepressor. Acts as dominant repressor towards other family members. Inhibits NF-kappa-B-regulated gene expression. May be required for the initiation and maintenance of the differentiated state. Essential for the transcriptional repressor activity of SIX3 during retina and lens development.2 Publications

    GO - Molecular functioni

    1. protein binding Source: UniProtKB
    2. transcription corepressor activity Source: UniProtKB

    GO - Biological processi

    1. cellular response to extracellular stimulus Source: Ensembl
    2. multicellular organismal development Source: ProtInc
    3. negative regulation of canonical Wnt signaling pathway Source: UniProtKB
    4. negative regulation of gene expression Source: UniProtKB
    5. negative regulation of protein binding Source: BHF-UCL
    6. negative regulation of response to cytokine stimulus Source: BHF-UCL
    7. negative regulation of transcription, DNA-templated Source: UniProtKB
    8. negative regulation of transcription from RNA polymerase II promoter Source: BHF-UCL
    9. organ morphogenesis Source: ProtInc
    10. positive regulation of anoikis Source: UniProtKB
    11. regulation of growth Source: Ensembl
    12. response to interleukin-1 Source: BHF-UCL
    13. skeletal system development Source: Ensembl
    14. transcription, DNA-templated Source: UniProtKB-KW
    15. Wnt signaling pathway Source: UniProtKB-KW

    Keywords - Molecular functioni

    Repressor

    Keywords - Biological processi

    Transcription, Transcription regulation, Wnt signaling pathway

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Amino-terminal enhancer of split
    Short name:
    Amino enhancer of split
    Alternative name(s):
    Gp130-associated protein GAM
    Grg-5
    Groucho-related protein 5
    Protein ESP1
    Protein GRG
    Gene namesi
    Name:AES
    Synonyms:GRG, GRG5
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 19

    Organism-specific databases

    HGNCiHGNC:307. AES.

    Subcellular locationi

    Nucleus By similarity

    GO - Cellular componenti

    1. nucleus Source: UniProtKB

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA24606.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 197197Amino-terminal enhancer of splitPRO_0000050834Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei196 – 1961Phosphoserine1 Publication

    Post-translational modificationi

    Ubiquitinated by XIAP/BIRC4.1 Publication

    Keywords - PTMi

    Phosphoprotein, Ubl conjugation

    Proteomic databases

    MaxQBiQ08117.
    PaxDbiQ08117.
    PRIDEiQ08117.

    PTM databases

    PhosphoSiteiQ08117.

    Expressioni

    Tissue specificityi

    Found predominantly in muscle, heart and Placenta. In fetal tissues, abundantly expressed in the heart, lung, kidney, brain and liver.

    Gene expression databases

    ArrayExpressiQ08117.
    BgeeiQ08117.
    CleanExiHS_AES.
    GenevestigatoriQ08117.

    Organism-specific databases

    HPAiHPA049499.

    Interactioni

    Subunit structurei

    Homooligomer and heterooligomer with other family members. Binds TCF7 By similarity. Binds the NF-kappa-B subunit RELA. Interacts with PHF12. Interacts (via Q domain) with SIX3. Interacts with SIX6.By similarity2 Publications

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    PROP1O753604EBI-717810,EBI-9027467
    PTRH2Q9Y3E57EBI-717810,EBI-1056751

    Protein-protein interaction databases

    BioGridi106675. 25 interactions.
    IntActiQ08117. 33 interactions.
    MINTiMINT-1382079.
    STRINGi9606.ENSP00000221561.

    Structurei

    3D structure databases

    ProteinModelPortaliQ08117.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni166 – 19732CCN domainAdd
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi1 – 131131Gln-rich (Q domain)Add
    BLAST
    Compositional biasi132 – 16534Gly/Pro-rich (GP domain)Add
    BLAST

    Domaini

    Lacks the C-terminal WD repeats.

    Sequence similaritiesi

    Belongs to the WD repeat Groucho/TLE family.Curated

    Phylogenomic databases

    eggNOGiNOG258600.
    HOGENOMiHOG000033830.
    HOVERGENiHBG000205.
    OMAiHRDEDAD.
    OrthoDBiEOG7HQNC3.
    PhylomeDBiQ08117.

    Family and domain databases

    InterProiIPR005617. Groucho/TLE_N.
    [Graphical view]
    PfamiPF03920. TLE_N. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q08117-1) [UniParc]FASTAAdd to Basket

    Also known as: AES-1

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MMFPQSRHSG SSHLPQQLKF TTSDSCDRIK DEFQLLQAQY HSLKLECDKL    50
    ASEKSEMQRH YVMYYEMSYG LNIEMHKQAE IVKRLNGICA QVLPYLSQEH 100
    QQQVLGAIER AKQVTAPELN SIIRQQLQAH QLSQLQALAL PLTPLPVGLQ 150
    PPSLPAVSAG TGLLSLSALG SQAHLSKEDK NGHDGDTHQE DDGEKSD 197
    Length:197
    Mass (Da):21,970
    Last modified:September 19, 2002 - v4
    Checksum:i3851663AA6921A9F
    GO
    Isoform 2 (identifier: Q08117-2) [UniParc]FASTAAdd to Basket

    Also known as: AES-2

    The sequence of this isoform differs from the canonical sequence as follows:
         1-9: MMFPQSRHS → MCHKNGFPQE...WGNRGPAGCR

    Show »
    Length:264
    Mass (Da):29,091
    Checksum:i8E6CD80583D0B82D
    GO

    Sequence cautioni

    The sequence AAC35517.1 differs from that shown. Reason: Erroneous initiation.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti30 – 301K → T(PubMed:9809752)Curated
    Sequence conflicti30 – 301K → T(PubMed:15057824)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti168 – 1681A → E.
    Corresponds to variant rs1802578 [ dbSNP | Ensembl ].
    VAR_011958

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 99MMFPQSRHS → MCHKNGFPQEGGITAAFLQK RKLRLSKNHRPARAKVTEHV RGTRPGRATAGPAASTRAAG SLFFDRWGNRGPAGCR in isoform 2. 3 PublicationsVSP_043527

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U04241 mRNA. Translation: AAA16223.1.
    U88832, U88831 Genomic DNA. Translation: AAD00654.1.
    AF072902 mRNA. Translation: AAC35517.1. Different initiation.
    AK094591 mRNA. Translation: BAG52894.1.
    AK314713 mRNA. Translation: BAG37257.1.
    AC005944 Genomic DNA. Translation: AAC72103.1.
    CH471139 Genomic DNA. Translation: EAW69345.1.
    CH471139 Genomic DNA. Translation: EAW69347.1.
    BC113735 mRNA. Translation: AAI13736.1.
    BC113737 mRNA. Translation: AAI13738.1.
    X73358 mRNA. Translation: CAA51768.1.
    CCDSiCCDS12101.1. [Q08117-2]
    CCDS12102.1. [Q08117-1]
    PIRiG01236.
    S35678.
    S35679.
    RefSeqiNP_001121.2. NM_001130.5. [Q08117-1]
    NP_945320.1. NM_198969.1. [Q08117-2]
    NP_945321.1. NM_198970.1.
    UniGeneiHs.515053.

    Genome annotation databases

    EnsembliENST00000221561; ENSP00000221561; ENSG00000104964. [Q08117-2]
    ENST00000327141; ENSP00000317537; ENSG00000104964. [Q08117-1]
    GeneIDi166.
    KEGGihsa:166.
    UCSCiuc002lwy.1. human. [Q08117-1]
    uc002lxb.1. human. [Q08117-2]

    Polymorphism databases

    DMDMi23503062.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U04241 mRNA. Translation: AAA16223.1 .
    U88832 , U88831 Genomic DNA. Translation: AAD00654.1 .
    AF072902 mRNA. Translation: AAC35517.1 . Different initiation.
    AK094591 mRNA. Translation: BAG52894.1 .
    AK314713 mRNA. Translation: BAG37257.1 .
    AC005944 Genomic DNA. Translation: AAC72103.1 .
    CH471139 Genomic DNA. Translation: EAW69345.1 .
    CH471139 Genomic DNA. Translation: EAW69347.1 .
    BC113735 mRNA. Translation: AAI13736.1 .
    BC113737 mRNA. Translation: AAI13738.1 .
    X73358 mRNA. Translation: CAA51768.1 .
    CCDSi CCDS12101.1. [Q08117-2 ]
    CCDS12102.1. [Q08117-1 ]
    PIRi G01236.
    S35678.
    S35679.
    RefSeqi NP_001121.2. NM_001130.5. [Q08117-1 ]
    NP_945320.1. NM_198969.1. [Q08117-2 ]
    NP_945321.1. NM_198970.1.
    UniGenei Hs.515053.

    3D structure databases

    ProteinModelPortali Q08117.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 106675. 25 interactions.
    IntActi Q08117. 33 interactions.
    MINTi MINT-1382079.
    STRINGi 9606.ENSP00000221561.

    PTM databases

    PhosphoSitei Q08117.

    Polymorphism databases

    DMDMi 23503062.

    Proteomic databases

    MaxQBi Q08117.
    PaxDbi Q08117.
    PRIDEi Q08117.

    Protocols and materials databases

    DNASUi 166.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000221561 ; ENSP00000221561 ; ENSG00000104964 . [Q08117-2 ]
    ENST00000327141 ; ENSP00000317537 ; ENSG00000104964 . [Q08117-1 ]
    GeneIDi 166.
    KEGGi hsa:166.
    UCSCi uc002lwy.1. human. [Q08117-1 ]
    uc002lxb.1. human. [Q08117-2 ]

    Organism-specific databases

    CTDi 166.
    GeneCardsi GC19M003003.
    HGNCi HGNC:307. AES.
    HPAi HPA049499.
    MIMi 600188. gene.
    neXtProti NX_Q08117.
    PharmGKBi PA24606.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG258600.
    HOGENOMi HOG000033830.
    HOVERGENi HBG000205.
    OMAi HRDEDAD.
    OrthoDBi EOG7HQNC3.
    PhylomeDBi Q08117.

    Miscellaneous databases

    ChiTaRSi AES. human.
    GenomeRNAii 166.
    NextBioi 669.
    PROi Q08117.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q08117.
    Bgeei Q08117.
    CleanExi HS_AES.
    Genevestigatori Q08117.

    Family and domain databases

    InterProi IPR005617. Groucho/TLE_N.
    [Graphical view ]
    Pfami PF03920. TLE_N. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Molecular cloning, sequence analysis and characterization of a human homolog of Drosophila enhancer of split m9/m10."
      Scala L.A., Piparo K.E., Tirumalai P.S., Howells R.D.
      Submitted (DEC-1993) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
      Tissue: Neuroblastoma.
    2. "Genomic organization and chromosome localization to band 19p13.3 of the human AES gene: gene product exhibits strong similarity to the N-terminal domain of Drosophila enhancer of split Groucho protein."
      Hou E.W., Li S.S.-L.
      DNA Cell Biol. 17:911-913(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
      Tissue: Lymphocyte and Umbilical cord.
    3. "Cloning and eukaryotic expressing of a novel gp130 associated molecule."
      Liu Y., Jin B.Q., Liu F.
      Zhonghua Wei Sheng Wu Xue He Mian Yi Xue Za Zhi 18:106-110(1998)
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
      Tissue: Placenta.
    4. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
      Tissue: Amygdala and Cerebellum.
    5. "The DNA sequence and biology of human chromosome 19."
      Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S., Carrano A.V.
      , Caoile C., Chan Y.M., Christensen M., Cleland C.A., Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M., Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V., Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D., McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I., Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L., Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J., Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E., Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M., Rubin E.M., Lucas S.M.
      Nature 428:529-535(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    7. "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] (ISOFORM 2).
      Tissue: Brain.
    8. "Molecular cloning and expression of mouse and human cDNA encoding AES and ESG proteins with strong similarity to Drosophila enhancer of split groucho protein."
      Miyasaka H., Choudhury B.K., Hou E.W., Li S.S.-L.
      Eur. J. Biochem. 216:343-352(1993) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 13-197 (ISOFORMS 1 AND 2).
      Tissue: Testis.
    9. "Inhibition of nuclear factor-kappaB-mediated transcription by association with the amino-terminal enhancer of split, a Groucho-related protein lacking WD40 repeats."
      Tetsuka T., Uranishi H., Imai H., Ono T., Sonta S., Takahashi N., Asamitsu K., Okamoto T.
      J. Biol. Chem. 275:4383-4390(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, INTERACTION WITH RELA.
    10. "Transducin-like enhancer of split proteins, the human homologs of Drosophila groucho, interact with hepatic nuclear factor 3beta."
      Wang J.-C., Waltner-Law M., Yamada K., Osawa H., Stifani S., Granner D.K.
      J. Biol. Chem. 275:18418-18423(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, OLIGOMERIZATION.
    11. "Pf1, a novel PHD zinc finger protein that links the TLE corepressor to the mSin3A-histone deacetylase complex."
      Yochum G.S., Ayer D.E.
      Mol. Cell. Biol. 21:4110-4118(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH PHF12.
    12. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
      Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
      Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-196, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    13. "XIAP monoubiquitylates Groucho/TLE to promote canonical Wnt signaling."
      Hanson A.J., Wallace H.A., Freeman T.J., Beauchamp R.D., Lee L.A., Lee E.
      Mol. Cell 45:619-628(2012) [PubMed] [Europe PMC] [Abstract]
      Cited for: UBIQUITINATION BY XIAP/BIRC4.

    Entry informationi

    Entry nameiAES_HUMAN
    AccessioniPrimary (citable) accession number: Q08117
    Secondary accession number(s): B2RBL0
    , Q12808, Q14CJ1, Q96TG9, Q9UDY9
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: February 1, 1995
    Last sequence update: September 19, 2002
    Last modified: October 1, 2014
    This is version 131 of the entry and version 4 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 19
      Human chromosome 19: 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