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Q08117

- AES_HUMAN

UniProt

Q08117 - AES_HUMAN

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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

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. transcription corepressor activity Source: UniProtKB

GO - Biological processi

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

Keywords - Molecular functioni

Repressor

Keywords - Biological processi

Transcription, Transcription regulation, Wnt signaling pathway

Enzyme and pathway databases

ReactomeiREACT_228106. repression of WNT target genes.

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
Complete GO annotation...

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

BgeeiQ08117.
CleanExiHS_AES.
ExpressionAtlasiQ08117. baseline and differential.
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 similarity3 Publications

Binary interactionsi

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

Protein-protein interaction databases

BioGridi106675. 27 interactions.
IntActiQ08117. 33 interactions.
MINTiMINT-1382079.
STRINGi9606.ENSP00000221561.

Structurei

3D structure databases

ProteinModelPortaliQ08117.
SMRiQ08117. Positions 24-126.
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.
GeneTreeiENSGT00550000074465.
HOGENOMiHOG000033830.
HOVERGENiHBG000205.
InParanoidiQ08117.
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

        10         20         30         40         50
MMFPQSRHSG SSHLPQQLKF TTSDSCDRIK DEFQLLQAQY HSLKLECDKL
60 70 80 90 100
ASEKSEMQRH YVMYYEMSYG LNIEMHKQAE IVKRLNGICA QVLPYLSQEH
110 120 130 140 150
QQQVLGAIER AKQVTAPELN SIIRQQLQAH QLSQLQALAL PLTPLPVGLQ
160 170 180 190
PPSLPAVSAG TGLLSLSALG SQAHLSKEDK NGHDGDTHQE DDGEKSD
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. Curated

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:
EMBLi
GenBanki
DDBJi
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:
EMBLi
GenBanki
DDBJi
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.
SMRi Q08117. Positions 24-126.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 106675. 27 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 GC19M003052.
HGNCi HGNC:307. AES.
HPAi HPA049499.
MIMi 600188. gene.
neXtProti NX_Q08117.
PharmGKBi PA24606.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG258600.
GeneTreei ENSGT00550000074465.
HOGENOMi HOG000033830.
HOVERGENi HBG000205.
InParanoidi Q08117.
OMAi HRDEDAD.
OrthoDBi EOG7HQNC3.
PhylomeDBi Q08117.

Enzyme and pathway databases

Reactomei REACT_228106. repression of WNT target genes.

Miscellaneous databases

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

Gene expression databases

Bgeei Q08117.
CleanExi HS_AES.
ExpressionAtlasi Q08117. baseline and differential.
Genevestigatori Q08117.

Family and domain databases

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

Publicationsi

« Hide 'large scale' publications
  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. "Six3 and Six6 activity is modulated by members of the groucho family."
    Lopez-Rios J., Tessmar K., Loosli F., Wittbrodt J., Bovolenta P.
    Development 130:185-195(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH SIX3.
  13. "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.
  14. "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: November 26, 2014
This is version 133 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