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Entry version 159 (31 Jul 2019)
Sequence version 2 (04 May 2001)
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Protein

Transcription factor COE3

Gene

EBF3

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 activator (PubMed:28017373, PubMed:28017372, PubMed:28017370). Recognizes variations of the palindromic sequence 5'-ATTCCCNNGGGAATT-3' (By similarity).By similarity3 Publications

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section specifies the position(s) and type(s) of zinc fingers within the protein.<p><a href='/help/zn_fing' target='_top'>More...</a></p>Zinc fingeri151 – 170C5-typeSequence analysisAdd BLAST20

<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

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 functionActivator, Developmental protein, DNA-binding
Biological processTranscription, Transcription regulation
LigandMetal-binding, Zinc

Enzyme and pathway databases

SIGNOR Signaling Network Open Resource

More...
SIGNORi
Q9H4W6

<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:
Transcription factor COE3
Alternative name(s):
Early B-cell factor 3
Short name:
EBF-3
Olf-1/EBF-like 2
Short name:
O/E-2
Short name:
OE-2
<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:EBF3
Synonyms:COE3
<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 10

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:19087 EBF3

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
607407 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9H4W6

<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 & Seán O’Donoghue; 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

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Hypotonia, ataxia, and delayed development syndrome (HADDS)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant neurodevelopmental syndrome characterized by global developmental delay, moderate to severe intellectual disability, cerebellar ataxia, hypotonia, speech delay, variable dysmorphic features, and genitourinary abnormalities including vesicoureteric reflux.
Related information in OMIM
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_07803366N → D in HADDS; significant loss of transcriptional activator activity; localizes both in the cytoplasm and the nucleus; decreased chromatin binding. 1 PublicationCorresponds to variant dbSNP:rs1057519518EnsemblClinVar.1
Natural variantiVAR_078034141Y → C in HADDS; significant loss of transcriptional activator activity; localizes both in the cytoplasm and the nucleus; decreased chromatin-binding. 1 PublicationCorresponds to variant dbSNP:rs1057519519EnsemblClinVar.1
Natural variantiVAR_078035159I → IHEI in HADDS; significant loss of transcriptional activator activity; localizes both in the cytoplasm and the nucleus; decreased chromatin-binding. 1 Publication1
Natural variantiVAR_078036163R → L in HADDS; partial loss of transcriptional activator activity. 1 PublicationCorresponds to variant dbSNP:rs1057519389EnsemblClinVar.1
Natural variantiVAR_078037163R → P in HADDS; loss of transcriptional activator activity. 1 PublicationCorresponds to variant dbSNP:rs1057519389EnsemblClinVar.1
Natural variantiVAR_078038163R → Q in HADDS; loss of transcriptional activator activity. 1 PublicationCorresponds to variant dbSNP:rs1057519389EnsemblClinVar.1
Natural variantiVAR_078039171G → D in HADDS; significant loss of transcriptional activator activity; localizes both in the cytoplasm and the nucleus; decreased chromatin-binding. 1 PublicationCorresponds to variant dbSNP:rs1057519437EnsemblClinVar.1
Natural variantiVAR_078040177P → L in HADDS; according to PubMed:28017373 shows significant loss of transcriptional activator activity while according to PubMed:28017370 shows partial loss of transcriptional activator activity; localizes both in the cytoplasm and the nucleus; decreased chromatin-binding. 2 PublicationsCorresponds to variant dbSNP:rs869312668EnsemblClinVar.1
Natural variantiVAR_078041193K → N in HADDS; significant loss of transcriptional activator activity. 1 PublicationCorresponds to variant dbSNP:rs1057519520EnsemblClinVar.1
Natural variantiVAR_078042209R → W in HADDS; significant loss of transcriptional activator activity; localizes both in the cytoplasm and the nucleus; decreased chromatin-binding. 1 PublicationCorresponds to variant dbSNP:rs779003155EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Mental retardation

Organism-specific databases

DisGeNET

More...
DisGeNETi
253738

MalaCards human disease database

More...
MalaCardsi
EBF3
MIMi617330 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000108001

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA134972607

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
EBF3

Domain mapping of disease mutations (DMDM)

More...
DMDMi
13959320

<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_00001078321 – 596Transcription factor COE3Add BLAST596

Proteomic databases

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q9H4W6

PeptideAtlas

More...
PeptideAtlasi
Q9H4W6

PRoteomics IDEntifications database

More...
PRIDEi
Q9H4W6

ProteomicsDB human proteome resource

More...
ProteomicsDBi
80876 [Q9H4W6-1]
80877 [Q9H4W6-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9H4W6

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

More...
PhosphoSitePlusi
Q9H4W6

<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

Expressed in brain.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000108001 Expressed in 150 organ(s), highest expression level in subcutaneous adipose tissue

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q9H4W6 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q9H4W6 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA061169

<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

Forms either a homodimer or a heterodimer with a related family member.

By similarity

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection describes interesting single amino acid sites on the sequence that are not defined in any other subsection. This subsection can be displayed in different sections (‘Function’, ‘PTM / Processing’, ‘Pathology and Biotech’) according to its content.<p><a href='/help/site' target='_top'>More...</a></p>Sitei163Interaction with DNABy similarity1
Sitei172Interaction with DNABy similarity1

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
128985, 11 interactors

Protein interaction database and analysis system

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IntActi
Q9H4W6, 4 interactors

Molecular INTeraction database

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MINTi
Q9H4W6

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000357637

<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

Secondary structure

1596
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

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

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SMRi
Q9H4W6

Database of comparative protein structure models

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ModBasei
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...
EvolutionaryTracei
Q9H4W6

<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

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini263 – 346IPT/TIGAdd BLAST84

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>Regioni63 – 66Interaction with DNABy similarity4
Regioni197 – 204Interaction with DNABy similarity8
Regioni236 – 239Interaction with DNABy similarity4

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 biasi464 – 555Pro/Ser/Thr-richAdd BLAST92

<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 COE family.Curated

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri151 – 170C5-typeSequence analysisAdd BLAST20

Keywords - Domaini

Zinc-finger

Phylogenomic databases

Ensembl GeneTree

More...
GeneTreei
ENSGT00950000182859

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000092311

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q9H4W6

KEGG Orthology (KO)

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KOi
K09103

Identification of Orthologs from Complete Genome Data

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OMAi
NCSGTHG

Database of Orthologous Groups

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OrthoDBi
817293at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9H4W6

TreeFam database of animal gene trees

More...
TreeFami
TF313391

Family and domain databases

Conserved Domains Database

More...
CDDi
cd11606 COE_DBD, 1 hit
cd01175 IPT_COE, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
2.60.40.10, 1 hit
2.60.40.3180, 1 hit
4.10.280.10, 2 hits

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR032200 COE_DBD
IPR038173 COE_DBD_sf
IPR032201 COE_HLH
IPR038006 COE_IPT
IPR036638 HLH_DNA-bd_sf
IPR013783 Ig-like_fold
IPR014756 Ig_E-set
IPR002909 IPT_dom
IPR003523 Transcription_factor_COE
IPR018350 Transcription_factor_COE_CS

The PANTHER Classification System

More...
PANTHERi
PTHR10747 PTHR10747, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF16422 COE1_DBD, 1 hit
PF16423 COE1_HLH, 1 hit
PF01833 TIG, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00429 IPT, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF81296 SSF81296, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS01345 COE, 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>. The information is filed in different subsections. The current subsections and their content are listed below:<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 1 potential isoform that is computationally mapped.Show allAlign All

Isoform Long (identifier: Q9H4W6-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
MFGIQENIPR GGTTMKEEPL GSGMNPVRSW MHTAGVVDAN TAAQSGVGLA
60 70 80 90 100
RAHFEKQPPS NLRKSNFFHF VLALYDRQGQ PVEIERTAFV DFVEKEKEPN
110 120 130 140 150
NEKTNNGIHY KLQLLYSNGV RTEQDLYVRL IDSMTKQAIV YEGQDKNPEM
160 170 180 190 200
CRVLLTHEIM CSRCCDKKSC GNRNETPSDP VIIDRFFLKF FLKCNQNCLK
210 220 230 240 250
NAGNPRDMRR FQVVVSTTVN VDGHVLAVSD NMFVHNNSKH GRRARRLDPS
260 270 280 290 300
EGTAPSYLEN ATPCIKAISP SEGWTTGGAT VIIIGDNFFD GLQVVFGTML
310 320 330 340 350
VWSELITPHA IRVQTPPRHI PGVVEVTLSY KSKQFCKGAP GRFVYTALNE
360 370 380 390 400
PTIDYGFQRL QKVIPRHPGD PERLPKEVLL KRAADLVEAL YGMPHNNQEI
410 420 430 440 450
ILKRAADIAE ALYSVPRNHN QIPTLGNNPA HTGMMGVNSF SSQLAVNVSE
460 470 480 490 500
TSQANDQVGY SRNTSSVSPR GYVPSSTPQQ SNYNTVSTSM NGYGSGAMAS
510 520 530 540 550
LGVPGSPGFL NGSSANSPYG IVPSSPTMAA SSVTLPSNCS STHGIFSFSP
560 570 580 590
ANVISAVKQK SAFAPVVRPQ ASPPPSCTSA NGNGLQAMSG LVVPPM
Length:596
Mass (Da):64,864
Last modified:May 4, 2001 - v2
<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:iEE5C9D10CD3DED02
GO
Isoform Short (identifier: Q9H4W6-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     252-260: Missing.
     521-558: IVPSSPTMAASSVTLPSNCSSTHGIFSFSPANVISAVK → MK

Show »
Length:551
Mass (Da):60,415
Checksum:i0813B855111FAB12
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 is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0Y3W9H0Y3W9_HUMAN
Transcription factor COE3
EBF3
191Annotation score:

Annotation score:2 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>

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07803366N → D in HADDS; significant loss of transcriptional activator activity; localizes both in the cytoplasm and the nucleus; decreased chromatin binding. 1 PublicationCorresponds to variant dbSNP:rs1057519518EnsemblClinVar.1
Natural variantiVAR_078034141Y → C in HADDS; significant loss of transcriptional activator activity; localizes both in the cytoplasm and the nucleus; decreased chromatin-binding. 1 PublicationCorresponds to variant dbSNP:rs1057519519EnsemblClinVar.1
Natural variantiVAR_078035159I → IHEI in HADDS; significant loss of transcriptional activator activity; localizes both in the cytoplasm and the nucleus; decreased chromatin-binding. 1 Publication1
Natural variantiVAR_078036163R → L in HADDS; partial loss of transcriptional activator activity. 1 PublicationCorresponds to variant dbSNP:rs1057519389EnsemblClinVar.1
Natural variantiVAR_078037163R → P in HADDS; loss of transcriptional activator activity. 1 PublicationCorresponds to variant dbSNP:rs1057519389EnsemblClinVar.1
Natural variantiVAR_078038163R → Q in HADDS; loss of transcriptional activator activity. 1 PublicationCorresponds to variant dbSNP:rs1057519389EnsemblClinVar.1
Natural variantiVAR_078039171G → D in HADDS; significant loss of transcriptional activator activity; localizes both in the cytoplasm and the nucleus; decreased chromatin-binding. 1 PublicationCorresponds to variant dbSNP:rs1057519437EnsemblClinVar.1
Natural variantiVAR_078040177P → L in HADDS; according to PubMed:28017373 shows significant loss of transcriptional activator activity while according to PubMed:28017370 shows partial loss of transcriptional activator activity; localizes both in the cytoplasm and the nucleus; decreased chromatin-binding. 2 PublicationsCorresponds to variant dbSNP:rs869312668EnsemblClinVar.1
Natural variantiVAR_078041193K → N in HADDS; significant loss of transcriptional activator activity. 1 PublicationCorresponds to variant dbSNP:rs1057519520EnsemblClinVar.1
Natural variantiVAR_078042209R → W in HADDS; significant loss of transcriptional activator activity; localizes both in the cytoplasm and the nucleus; decreased chromatin-binding. 1 PublicationCorresponds to variant dbSNP:rs779003155EnsemblClinVar.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.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_001113252 – 260Missing in isoform Short. 1 Publication9
Alternative sequenceiVSP_001114521 – 558IVPSS…ISAVK → MK in isoform Short. 1 PublicationAdd BLAST38

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AL354950 Genomic DNA No translation available.
CH471066 Genomic DNA Translation: EAW49160.1
BC126130 mRNA Translation: AAI26131.1
BC130479 mRNA Translation: AAI30480.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS31314.1 [Q9H4W6-2]

NCBI Reference Sequences

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RefSeqi
NP_001005463.1, NM_001005463.2 [Q9H4W6-2]
XP_005252725.1, XM_005252668.3 [Q9H4W6-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000355311; ENSP00000347463; ENSG00000108001 [Q9H4W6-1]
ENST00000368648; ENSP00000357637; ENSG00000108001 [Q9H4W6-2]

Database of genes from NCBI RefSeq genomes

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GeneIDi
253738

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:253738

UCSC genome browser

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UCSCi
uc001lki.3 human [Q9H4W6-1]

Keywords - Coding sequence diversityi

Alternative splicing

<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
AL354950 Genomic DNA No translation available.
CH471066 Genomic DNA Translation: EAW49160.1
BC126130 mRNA Translation: AAI26131.1
BC130479 mRNA Translation: AAI30480.1
CCDSiCCDS31314.1 [Q9H4W6-2]
RefSeqiNP_001005463.1, NM_001005463.2 [Q9H4W6-2]
XP_005252725.1, XM_005252668.3 [Q9H4W6-1]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3MUJX-ray1.92A/B261-395[»]
3N50X-ray3.10A/B/C/D/E/F261-415[»]
SMRiQ9H4W6
ModBaseiSearch...

Protein-protein interaction databases

BioGridi128985, 11 interactors
IntActiQ9H4W6, 4 interactors
MINTiQ9H4W6
STRINGi9606.ENSP00000357637

PTM databases

iPTMnetiQ9H4W6
PhosphoSitePlusiQ9H4W6

Polymorphism and mutation databases

BioMutaiEBF3
DMDMi13959320

Proteomic databases

MaxQBiQ9H4W6
PeptideAtlasiQ9H4W6
PRIDEiQ9H4W6
ProteomicsDBi80876 [Q9H4W6-1]
80877 [Q9H4W6-2]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000355311; ENSP00000347463; ENSG00000108001 [Q9H4W6-1]
ENST00000368648; ENSP00000357637; ENSG00000108001 [Q9H4W6-2]
GeneIDi253738
KEGGihsa:253738
UCSCiuc001lki.3 human [Q9H4W6-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
253738
DisGeNETi253738

GeneCards: human genes, protein and diseases

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GeneCardsi
EBF3
HGNCiHGNC:19087 EBF3
HPAiHPA061169
MalaCardsiEBF3
MIMi607407 gene
617330 phenotype
neXtProtiNX_Q9H4W6
OpenTargetsiENSG00000108001
PharmGKBiPA134972607

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

GeneTreeiENSGT00950000182859
HOGENOMiHOG000092311
InParanoidiQ9H4W6
KOiK09103
OMAiNCSGTHG
OrthoDBi817293at2759
PhylomeDBiQ9H4W6
TreeFamiTF313391

Enzyme and pathway databases

SIGNORiQ9H4W6

Miscellaneous databases

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

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ChiTaRSi
EBF3 human
EvolutionaryTraceiQ9H4W6

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

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GenomeRNAii
253738

Protein Ontology

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PROi
PR:Q9H4W6

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000108001 Expressed in 150 organ(s), highest expression level in subcutaneous adipose tissue
ExpressionAtlasiQ9H4W6 baseline and differential
GenevisibleiQ9H4W6 HS

Family and domain databases

CDDicd11606 COE_DBD, 1 hit
cd01175 IPT_COE, 1 hit
Gene3Di2.60.40.10, 1 hit
2.60.40.3180, 1 hit
4.10.280.10, 2 hits
InterProiView protein in InterPro
IPR032200 COE_DBD
IPR038173 COE_DBD_sf
IPR032201 COE_HLH
IPR038006 COE_IPT
IPR036638 HLH_DNA-bd_sf
IPR013783 Ig-like_fold
IPR014756 Ig_E-set
IPR002909 IPT_dom
IPR003523 Transcription_factor_COE
IPR018350 Transcription_factor_COE_CS
PANTHERiPTHR10747 PTHR10747, 1 hit
PfamiView protein in Pfam
PF16422 COE1_DBD, 1 hit
PF16423 COE1_HLH, 1 hit
PF01833 TIG, 1 hit
SMARTiView protein in SMART
SM00429 IPT, 1 hit
SUPFAMiSSF81296 SSF81296, 1 hit
PROSITEiView protein in PROSITE
PS01345 COE, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
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 nameiCOE3_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: Q9H4W6
Secondary accession number(s): A0AUY1, Q5T6H9, Q9H4W5
<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: May 4, 2001
Last sequence update: May 4, 2001
Last modified: July 31, 2019
This is version 159 of the entry and version 2 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. Human chromosome 10
    Human chromosome 10: entries, gene names and cross-references to MIM
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