Q08117 (AES_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Amino-terminal enhancer of split
Short name=Amino enhancer of split

Alternative name(s):
Gp130-associated protein GAM
Protein ESP1
Protein GRG

Gene names

Name:	AES
Synonyms:	GRG

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	197 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	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. Ref.8 Ref.9
Subunit structure	Homooligomer and heterooligomer with other family members. Binds TCF7 By similarity. Binds the NF-kappa-B subunit RELA. Interacts with PHF12. Ref.8 Ref.9 Ref.10
Subcellular location	Nucleus By similarity.
Tissue specificity	Found predominantly in muscle, heart and Placenta. In fetal tissues, abundantly expressed in the heart, lung, kidney, brain and liver.
Domain	Lacks the C-terminal WD repeats.
Sequence similarities	Belongs to the WD repeat Groucho/TLE family.
Sequence caution	The sequence AAC35517.1 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
Biological process	Transcription Transcription regulation Wnt signaling pathway
Cellular component	Nucleus
Coding sequence diversity	Alternative splicing Polymorphism
Molecular function	Repressor
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	Wnt receptor signaling pathway Inferred from electronic annotation. Source: UniProtKB-KW negative regulation of canonical Wnt receptor signaling pathway Inferred from direct assay. Source: UniProtKB negative regulation of protein binding Inferred from direct assay. Source: BHF-UCL negative regulation of response to cytokine stimulus Inferred from mutant phenotype. Source: BHF-UCL negative regulation of transcription from RNA polymerase II promoter Inferred from mutant phenotype Ref.8. Source: BHF-UCL organ morphogenesis Traceable author statement. Source: ProtInc response to interleukin-1 Inferred from direct assay. Source: BHF-UCL transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW
Cellular component	nucleus Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular function	protein binding Inferred from physical interaction Ref.10. Source: UniProtKB transcription corepressor activity Inferred from direct assay. Source: UniProtKB
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Select]

Isoform 1 (identifier: Q08117-1)

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.

Isoform 2 (identifier: Q08117-2)

Also known as: AES-2;

The sequence of this isoform is not available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 197	197	Amino-terminal enhancer of split		PRO_0000050834
Regions
	Region	166 – 197	32	CCN domain
	Compositional bias	1 – 131	131	Gln-rich (Q domain)
	Compositional bias	132 – 165	34	Gly/Pro-rich (GP domain)
Natural variations
	Natural variant	168	1	A → E. Corresponds to variant rs1802578 [ dbSNP | Ensembl ].		VAR_011958
Experimental info
	Sequence conflict	30	1	K → T Ref.2
	Sequence conflict	30	1	K → T Ref.5

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 (AES-1) [UniParc]. Last modified September 19, 2002. Version 4. Checksum: 3851663AA6921A9F	FASTA	197	21,970
	10 20 30 40 50 60 MMFPQSRHSG SSHLPQQLKF TTSDSCDRIK DEFQLLQAQY HSLKLECDKL ASEKSEMQRH 70 80 90 100 110 120 YVMYYEMSYG LNIEMHKQAE IVKRLNGICA QVLPYLSQEH QQQVLGAIER AKQVTAPELN 130 140 150 160 170 180 SIIRQQLQAH QLSQLQALAL PLTPLPVGLQ PPSLPAVSAG TGLLSLSALG SQAHLSKEDK 190 NGHDGDTHQE DDGEKSD
	Isoform 2 (AES-2) (Sequence not available).		–	–

References

	« Hide 'large scale' referencesShow 'large scale' references »
[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]. 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: 9809752] [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]. 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: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: 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: 15057824] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[7]	"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: 8365415] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 13-197 (ISOFORMS 1 AND 2). Tissue: Testis.
[8]	"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: 10660609] [Abstract] Cited for: FUNCTION, INTERACTION WITH RELA.
[9]	"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: 10748198] [Abstract] Cited for: FUNCTION, OLIGOMERIZATION.
[10]	"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: 11390640] [Abstract] Cited for: INTERACTION WITH PHF12.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	U04241 mRNA. Translation: AAA16223.1. U88832, U88831 Genomic DNA. Translation: AAD00654.1. AF072902 mRNA. Translation: AAC35517.1. Different initiation. AK314713 mRNA. Translation: BAG37257.1. AC005944 Genomic DNA. Translation: AAC72103.1. CH471139 Genomic DNA. Translation: EAW69345.1. X73358 mRNA. Translation: CAA51768.1.
IPI	IPI00432493.
PIR	G01236. S35678. S35679.
RefSeq	NP_001121.2. NM_001130.5.
UniGene	Hs.515053.
3D structure databases
ProteinModelPortal	Q08117.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q08117. 31 interactions.
MINT	MINT-1382079.
STRING	Q08117.
PTM databases
PhosphoSite	Q08117.
Polymorphism databases
DMDM	23503062.
Proteomic databases
PRIDE	Q08117.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000327141; ENSP00000317537; ENSG00000104964.
GeneID	166.
KEGG	hsa:166.
UCSC	uc002lwy.1. human.
Organism-specific databases
CTD	166.
GeneCards	GC19M003003.
H-InvDB	HIX0014632.
HGNC	HGNC:307. AES.
MIM	600188. gene.
neXtProt	NX_Q08117.
PharmGKB	PA24606.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG18676.
GeneTree	ENSGT00550000074465.
HOVERGEN	HBG000205.
Enzyme and pathway databases
Pathway_Interaction_DB	wnt_canonical_pathway. Canonical Wnt signaling pathway.
Gene expression databases
ArrayExpress	Q08117.
Bgee	Q08117.
CleanEx	HS_AES.
Genevestigator	Q08117.
GermOnline	ENSG00000104964. Homo sapiens.
Family and domain databases
InterPro	IPR005617. Groucho/TLE_N. [Graphical view]
Pfam	PF03920. TLE_N. 1 hit. [Graphical view]
ProtoNet	Search...
Other
NextBio	669.
SOURCE	Search...

Entry information

Entry name

AES_HUMAN

Accession

Primary (citable) accession number: Q08117
Secondary accession number(s): B2RBL0 , Q12808, Q96TG9, Q9UDY9

Entry history

Integrated into UniProtKB/Swiss-Prot:	February 1, 1995
Last sequence update:	September 19, 2002
Last modified:	January 25, 2012
This is version 107 of the entry and version 4 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.