Reviewed, UniProtKB/Swiss-Prot Q08117 (AES_HUMAN)

Names and origin

Protein names

Recommended name:
    Amino-terminal enhancer of split
      Short name=Amino enhancer of split
Alternative name(s):
    GRG protein
    Protein ESP1
    Gp130-associated protein GAM

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.
Sequence processing	The displayed sequence is not processed.
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.
Subunit structure	Homooligomer and heterooligomer with other family members. Binds TCF7 By similarity. Binds the NF-kappa-B subunit RELA. Interacts with PHF12.
Subcellular location	NucleusBy 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.

Ontologies

Keywords
Biological process	Transcription Transcription regulation Wnt signaling pathway
Cellular component	Nucleus
Coding sequence diversity	Alternative splicing Polymorphism
Molecular function	Repressor
PTM	Phosphoprotein
Gene Ontology (GO)
Biological process	Wnt receptor signaling pathway Inferred from electronic annotation. Source: UniProtKB-KW organ morphogenesis Ref.2 Traceable author statement. Source: ProtInc regulation of transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW
Cellular component	nucleus Inferred from electronic annotation. Source: UniProtKB-KW
Molecular function	protein binding Ref.8 Inferred from physical interaction. Source: UniProtKB
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
HNRNPAB	Q99729	1	EBI-717810,EBI-1044873
STYXL1	Q9Y6J8	1	EBI-717810,EBI-1044511
TLE1	Q04724	1	EBI-717810,EBI-711424
TLE3	Q04726	1	EBI-717810,EBI-1052057

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: dbSNP rs1802578.		VAR_011958
Experimental info
	Sequence conflict	30	1	K → T Ref.2 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]	"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].
[5]	"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.
[6]	"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.
[7]	"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.
[8]	"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
EMBLGenBankDDBJ	U04241 mRNA. Translation: AAA16223.1. U88832, U88831 Genomic DNA. Translation: AAD00654.1. AF072902 mRNA. Translation: AAC35517.1. Different initiation. AC005944 Genomic DNA. Translation: AAC72103.1. X73358 mRNA. Translation: CAA51768.1.
PIR	G01236. S35678. S35679.
RefSeq	NP_001121.2.
UniGene	Hs.515053
3D structure databases
ModBase	Search...
Protein-protein interaction databases
IntAct	Q08117.
PTM databases
PhosphoSite	Q08117.
Genome annotation databases
Ensembl	ENSG00000104964. Homo sapiens. [Contig view]
GeneID	166.
KEGG	hsa:166.
Organism-specific databases
H-InvDB	HIX0014632.
HGNC	HGNC:307. AES.
MIM	600188. gene.
PharmGKB	PA24606.
GenAtlas	Search...
GeneCards	Search...
Phylogenomic databases
HOVERGEN	Q08117.
Gene expression databases
ArrayExpress	Q08117.
CleanEx	HS_AES.
GermOnline	ENSG00000104964. Homo sapiens.
Family and domain databases
InterPro	IPR005617. TLE_N. [Graphical view]
Pfam	PF03920. TLE_N. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
NextBio	669.
SOURCE	Search...

Entry information

Entry name

AES_HUMAN

Accession

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

Entry history

Integrated into UniProtKB/Swiss-Prot:	February 1, 1995
Last sequence update:	September 19, 2002
Last modified:	November 25, 2008
This is version 76 of the entry and version 4 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)