Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Amino-terminal enhancer of split

Gene

AES

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

  • identical protein binding Source: IntAct
  • repressing transcription factor binding Source: GO_Central
  • transcription corepressor activity Source: UniProtKB

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionRepressor
Biological processTranscription, Transcription regulation, Wnt signaling pathway

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-4641265 Repression of WNT target genes

SIGNOR Signaling Network Open Resource

More...
SIGNORi
Q08117

Protein family/group databases

MoonDB Database of extreme multifunctional and moonlighting proteins

More...
MoonDBi
Q08117 Predicted

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:AES
Synonyms:GRG, GRG5
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 19

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000104964.14

Human Gene Nomenclature Database

More...
HGNCi
HGNC:307 AES

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
600188 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q08117

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Organism-specific databases

DisGeNET

More...
DisGeNETi
166

Open Targets

More...
OpenTargetsi
ENSG00000104964

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA24606

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
AES

Domain mapping of disease mutations (DMDM)

More...
DMDMi
23503062

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000508341 – 197Amino-terminal enhancer of splitAdd BLAST197

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei196PhosphoserineCombined sources1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Ubiquitinated by XIAP/BIRC4.1 Publication

Keywords - PTMi

Phosphoprotein, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q08117

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q08117

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q08117

PeptideAtlas

More...
PeptideAtlasi
Q08117

PRoteomics IDEntifications database

More...
PRIDEi
Q08117

ProteomicsDB human proteome resource

More...
ProteomicsDBi
58572
58573 [Q08117-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q08117

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q08117

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>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

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000104964 Expressed in 237 organ(s), highest expression level in cerebellar vermis

CleanEx database of gene expression profiles

More...
CleanExi
HS_AES

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q08117 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q08117 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA049499

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>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

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

WithEntry#Exp.IntActNotes
Q9H6143EBI-717810,EBI-10249899
ABI2Q9NYB93EBI-717810,EBI-743598
ABI2Q9NYB9-24EBI-11741437,EBI-11096309
AENQ8WTP83EBI-717810,EBI-8637627
ARHGAP32A7KAX93EBI-717810,EBI-308663
BAHD1Q8TBE03EBI-717810,EBI-742750
BCL6P411823EBI-717810,EBI-765407
BHLHE40O145033EBI-717810,EBI-711810
BIRC7Q96CA53EBI-717810,EBI-517623
BYSLQ138955EBI-717810,EBI-358049
C1orf109Q9NX043EBI-717810,EBI-8643161
C1orf216Q8TAB53EBI-717810,EBI-747505
C1orf94Q6P1W53EBI-717810,EBI-946029
CALCOCO2Q131373EBI-717810,EBI-739580
CARD9Q9H2573EBI-717810,EBI-751319
CCDC120Q96HB54EBI-11741437,EBI-744556
CCDC57Q2TAC23EBI-717810,EBI-2808286
CCNJLF6RF563EBI-717810,EBI-10177725
CCNKO759093EBI-717810,EBI-739806
CFAP206Q8IYR03EBI-717810,EBI-749051
CIB3Q96Q773EBI-717810,EBI-10292696
CPSF7Q8N6843EBI-717810,EBI-746909
CRACR2AQ9BSW23EBI-717810,EBI-739773
CRXO431863EBI-717810,EBI-748171
CSTF2TQ9H0L44EBI-11741437,EBI-747012
CTAGE5O153203EBI-717810,EBI-1050253
DDX6P261963EBI-717810,EBI-351257
DIP2AQ14689-63EBI-717810,EBI-10233719
DMRT3Q9NQL94EBI-11741437,EBI-9679045
DVL2O146413EBI-11741437,EBI-740850
EAF1Q96JC93EBI-717810,EBI-769261
EFEMP2O959674EBI-11741437,EBI-743414
EIF4E2O605733EBI-717810,EBI-398610
FAM124AQ86V423EBI-717810,EBI-744506
FAM124BQ9H5Z63EBI-717810,EBI-741626
FBF1Q8TES7-63EBI-717810,EBI-10244131
FHL3Q136434EBI-11741437,EBI-741101
FOXP2O154093EBI-717810,EBI-983612
FRS3O435593EBI-717810,EBI-725515
FSD2A1L4K13EBI-717810,EBI-5661036
GFAPP141363EBI-717810,EBI-744302
GOLGA2Q083795EBI-11741437,EBI-618309
GORASP2Q9H8Y83EBI-717810,EBI-739467
GRB2P629933EBI-717810,EBI-401755
HGSA0A0S2Z4Q43EBI-11741437,EBI-16429135
HGSO149645EBI-11741437,EBI-740220
HNRNPFP525973EBI-717810,EBI-352986
HOMEZQ8IX15-33EBI-717810,EBI-10172004
IKZF3Q9UKT94EBI-11741437,EBI-747204
KANK2Q63ZY33EBI-717810,EBI-2556193
KIFC3Q9BVG83EBI-717810,EBI-2125614
KRT13A1A4E93EBI-717810,EBI-10171552
KRT15P190123EBI-717810,EBI-739566
KRT31Q153233EBI-717810,EBI-948001
KRT40Q6A1623EBI-717810,EBI-10171697
KRTAP10-7P604093EBI-717810,EBI-10172290
KRTAP10-8P604103EBI-717810,EBI-10171774
KRTAP10-9P604113EBI-717810,EBI-10172052
L3MBTL2Q969R53EBI-717810,EBI-739909
LDOC1O957513EBI-717810,EBI-740738
LINC00526Q96FQ73EBI-717810,EBI-10286106
LMO1P258003EBI-717810,EBI-8639312
LMO2P257913EBI-717810,EBI-739696
LMO4P619683EBI-717810,EBI-2798728
LSM2Q9Y3333EBI-717810,EBI-347416
MAGOHBQ96A723EBI-717810,EBI-746778
MBNL1Q86VM63EBI-717810,EBI-10225084
MED4Q9NPJ63EBI-717810,EBI-394607
MFAP1P550813EBI-717810,EBI-1048159
MKRN3Q130646EBI-11741437,EBI-2340269
MLXQ9UH923EBI-717810,EBI-741109
MORF4L2Q150143EBI-717810,EBI-399257
MTUS2Q5JR593EBI-717810,EBI-742948
MTUS2Q5JR59-35EBI-11741437,EBI-11522433
NAB2Q157423EBI-717810,EBI-8641936
NCDNQ9UBB63EBI-717810,EBI-1053490
NEK6Q9HC983EBI-717810,EBI-740364
NOTCH2NLAQ7Z3S93EBI-717810,EBI-945833
NUDT22Q9BRQ33EBI-717810,EBI-10297093
OLIG3Q7RTU33EBI-717810,EBI-10225049
OSGIN1Q9UJX03EBI-717810,EBI-9057006
PARVGQ9HBI04EBI-11741437,EBI-3921217
PICK1Q9NRD54EBI-11741437,EBI-79165
PITX1P783374EBI-11741437,EBI-748265
PPP1R16AQ96I343EBI-717810,EBI-710402
PRKAA1Q131313EBI-717810,EBI-1181405
PRKAA2P546463EBI-717810,EBI-1383852
PRKAB2O437414EBI-11741437,EBI-1053424
PROP1O753604EBI-717810,EBI-9027467
PRPF31Q8WWY37EBI-11741437,EBI-1567797
PRR3P795223EBI-717810,EBI-2803328
PTRH2Q9Y3E57EBI-717810,EBI-1056751
QARSP478973EBI-717810,EBI-347462
QARSP47897-23EBI-717810,EBI-10209725
RBM10P981753EBI-717810,EBI-721525
RBPMSQ930623EBI-717810,EBI-740322
RBPMSQ93062-34EBI-11741437,EBI-740343
RELQ048643EBI-717810,EBI-307352
RFX6Q8HWS33EBI-717810,EBI-746118
RHOXF2Q9BQY44EBI-11741437,EBI-372094
RIMBP3Q9UFD93EBI-717810,EBI-10182375
RNF31Q96EP0-33EBI-717810,EBI-10225152
SCNM1Q9BWG64EBI-11741437,EBI-748391
SDCBPO005603EBI-717810,EBI-727004
SIX1Q154755EBI-11741437,EBI-743675
SKILP127573EBI-717810,EBI-2902468
SMAD3P840223EBI-717810,EBI-347161
SNRPCQ5TAL43EBI-717810,EBI-10246938
SOX5P357113EBI-717810,EBI-3505701
SRPK2P783623EBI-717810,EBI-593303
STK16O757163EBI-717810,EBI-749295
STX11O755583EBI-717810,EBI-714135
TBX3O151193EBI-717810,EBI-3452216
TCF4P158843EBI-717810,EBI-533224
TENT5BQ96A094EBI-11741437,EBI-752030
TMCC2O75069-43EBI-717810,EBI-10177480
TRAF1Q130775EBI-11741437,EBI-359224
TRAF2Q129333EBI-717810,EBI-355744
TRIM26Q128993EBI-717810,EBI-2341136
TRIM27P143733EBI-717810,EBI-719493
TRIM41Q8WV443EBI-717810,EBI-725997
TSC22D4Q8IV543EBI-717810,EBI-10261521
TSGA10Q9BZW73EBI-717810,EBI-744794
TSSK3Q96PN83EBI-717810,EBI-3918381
U2AF2P263683EBI-717810,EBI-742339
UBXN11Q5T1243EBI-717810,EBI-746004
VPS37BQ9H9H43EBI-717810,EBI-4400866
VPS37CA5D8V63EBI-717810,EBI-2559305
WDYHV1Q96HA84EBI-11741437,EBI-741158
ZBTB24O431673EBI-717810,EBI-744471
ZGPATA0A0S2Z6H03EBI-11741437,EBI-16428984
ZGPATQ8N5A53EBI-717810,EBI-3439227
ZGPATQ8N5A5-27EBI-11741437,EBI-10183064
ZNF576Q9H6093EBI-717810,EBI-3921014

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
106675, 155 interactors

Protein interaction database and analysis system

More...
IntActi
Q08117, 367 interactors

Molecular INTeraction database

More...
MINTi
Q08117

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000221561

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
Q08117

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
Q08117

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni166 – 197CCN domainAdd BLAST32

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi1 – 131Gln-rich (Q domain)Add BLAST131
Compositional biasi132 – 165Gly/Pro-rich (GP domain)Add BLAST34

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

Lacks the C-terminal WD repeats.

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the WD repeat Groucho/TLE family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG0639 Eukaryota
ENOG410XPX3 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000154193

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000033830

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG000205

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q08117

Identification of Orthologs from Complete Genome Data

More...
OMAi
LANYSHG

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q08117

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR005617 Groucho/TLE_N
IPR009146 Groucho_enhance

The PANTHER Classification System

More...
PANTHERi
PTHR10814 PTHR10814, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF03920 TLE_N, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
K7ELE3K7ELE3_HUMAN
Amino-terminal enhancer of split
AES
264Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
K7EQH5K7EQH5_HUMAN
Amino-terminal enhancer of split, i...
AES hCG_2005178
141Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
K7ELQ8K7ELQ8_HUMAN
Amino-terminal enhancer of split
AES
48Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

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

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti30K → T (PubMed:9809752).Curated1
Sequence conflicti30K → T (PubMed:15057824).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_011958168A → E. Corresponds to variant dbSNP:rs1802578Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0435271 – 9MMFPQSRHS → MCHKNGFPQEGGITAAFLQK RKLRLSKNHRPARAKVTEHV RGTRPGRATAGPAASTRAAG SLFFDRWGNRGPAGCR in isoform 2. 3 Publications9

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
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

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS12101.1 [Q08117-2]
CCDS12102.1 [Q08117-1]

Protein sequence database of the Protein Information Resource

More...
PIRi
G01236
S35678
S35679

NCBI Reference Sequences

More...
RefSeqi
NP_001121.2, NM_001130.5 [Q08117-1]
NP_945320.1, NM_198969.1 [Q08117-2]
NP_945321.1, NM_198970.1

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.515053

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000221561; ENSP00000221561; ENSG00000104964 [Q08117-2]
ENST00000327141; ENSP00000317537; ENSG00000104964 [Q08117-1]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
166

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:166

UCSC genome browser

More...
UCSCi
uc002lwy.2 human [Q08117-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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
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

3D structure databases

ProteinModelPortaliQ08117
SMRiQ08117
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi106675, 155 interactors
IntActiQ08117, 367 interactors
MINTiQ08117
STRINGi9606.ENSP00000221561

Protein family/group databases

MoonDBiQ08117 Predicted

PTM databases

iPTMnetiQ08117
PhosphoSitePlusiQ08117

Polymorphism and mutation databases

BioMutaiAES
DMDMi23503062

Proteomic databases

EPDiQ08117
MaxQBiQ08117
PaxDbiQ08117
PeptideAtlasiQ08117
PRIDEiQ08117
ProteomicsDBi58572
58573 [Q08117-2]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
166
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
166
DisGeNETi166
EuPathDBiHostDB:ENSG00000104964.14

GeneCards: human genes, protein and diseases

More...
GeneCardsi
AES
HGNCiHGNC:307 AES
HPAiHPA049499
MIMi600188 gene
neXtProtiNX_Q08117
OpenTargetsiENSG00000104964
PharmGKBiPA24606

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG0639 Eukaryota
ENOG410XPX3 LUCA
GeneTreeiENSGT00940000154193
HOGENOMiHOG000033830
HOVERGENiHBG000205
InParanoidiQ08117
OMAiLANYSHG
PhylomeDBiQ08117

Enzyme and pathway databases

ReactomeiR-HSA-4641265 Repression of WNT target genes
SIGNORiQ08117

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
AES human

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
166

Protein Ontology

More...
PROi
PR:Q08117

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000104964 Expressed in 237 organ(s), highest expression level in cerebellar vermis
CleanExiHS_AES
ExpressionAtlasiQ08117 baseline and differential
GenevisibleiQ08117 HS

Family and domain databases

InterProiView protein in InterPro
IPR005617 Groucho/TLE_N
IPR009146 Groucho_enhance
PANTHERiPTHR10814 PTHR10814, 1 hit
PfamiView protein in Pfam
PF03920 TLE_N, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiAES_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q08117
Secondary accession number(s): B2RBL0
, Q12808, Q14CJ1, Q96TG9, Q9UDY9
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 1, 1995
Last sequence update: September 19, 2002
Last modified: December 5, 2018
This is version 174 of the entry and version 4 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again