Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Entry version 141 (12 Aug 2020)
Sequence version 2 (17 Apr 2007)
Previous versions | rss
Help videoAdd a publicationFeedback
Protein

Elongator complex protein 4

Gene

ELP4

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

Component of the RNA polymerase II elongator complex, a multiprotein complex associated with the RNA polymerase II (Pol II) holoenzyme, and which is involved in transcriptional elongation (PubMed:11714725, PubMed:11818576, PubMed:16713582). The elongator complex catalyzes formation of carboxymethyluridine in the wobble base at position 34 in tRNAs (PubMed:29332244).1 Publication3 Publications

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section describes the metabolic pathway(s) associated with a protein.<p><a href='/help/pathway' target='_top'>More...</a></p>Pathwayi: 5-methoxycarbonylmethyl-2-thiouridine-tRNA biosynthesis

This protein is involved in the pathway 5-methoxycarbonylmethyl-2-thiouridine-tRNA biosynthesis, which is part of tRNA modification.1 Publication
View all proteins of this organism that are known to be involved in the pathway 5-methoxycarbonylmethyl-2-thiouridine-tRNA biosynthesis and in tRNA modification.

<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

Biological processTranscription, Transcription regulation, tRNA processing

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...
PathwayCommonsi
Q96EB1

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-3214847, HATs acetylate histones

UniPathway: a resource for the exploration and annotation of metabolic pathways

More...
UniPathwayi
UPA00988

<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%5Fand%5Ftaxonomy%5Fsection">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:
Elongator complex protein 4
Short name:
hELP4
Alternative name(s):
PAX6 neighbor gene protein
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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:ELP4
Synonyms:C11orf19, PAXNEB
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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 11

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000109911.17

Human Gene Nomenclature Database

More...
HGNCi
HGNC:1171, ELP4

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
606985, gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q96EB1

<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

Cytoplasm, 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

Aniridia 2 (AN2)1 Publication
The disease is caused by mutations affecting the gene represented in this entry. A disease-causing mutation is located in intron 9 of ELP4. The mutation does not alter normal ELP4 expression and function, but disrupts a long-range cis-regulatory element of PAX6 expression, known as SIMO. SIMO is contained within ELP4 intron 9 and located 150 kb downstream of PAX6.1 Publication
Disease descriptionA form of aniridia, a congenital, bilateral, panocular disorder characterized by complete absence of the iris or extreme iris hypoplasia. Aniridia is not just an isolated defect in iris development but it is associated with macular and optic nerve hypoplasia, cataract, corneal changes, nystagmus. Visual acuity is generally low but is unrelated to the degree of iris hypoplasia. Glaucoma is a secondary problem causing additional visual loss over time.
Related information in OMIM

Organism-specific databases

DisGeNET

More...
DisGeNETi
26610

MalaCards human disease database

More...
MalaCardsi
ELP4
MIMi617141, phenotype

Open Targets

More...
OpenTargetsi
ENSG00000109911

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA27764

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q96EB1, Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
ELP4

Domain mapping of disease mutations (DMDM)

More...
DMDMi
145558903

<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 or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002840041 – 424Elongator complex protein 4Add BLAST424

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q96EB1

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q96EB1

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q96EB1

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q96EB1

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

More...
PaxDbi
Q96EB1

PeptideAtlas

More...
PeptideAtlasi
Q96EB1

PRoteomics IDEntifications database

More...
PRIDEi
Q96EB1

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
5926
76391 [Q96EB1-1]
76392 [Q96EB1-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q96EB1

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

More...
PhosphoSitePlusi
Q96EB1

<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

Widely expressed.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000109911, Expressed in ventricular zone and 212 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q96EB1, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q96EB1, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000109911, Low tissue specificity

<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%5Fsection">'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%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Component of the RNA polymerase II elongator complex (Elongator), which consists of ELP1, STIP1/ELP2, ELP3, ELP4, ELP5 and ELP6 (PubMed:11714725, PubMed:22854966). Elongator associates with the C-terminal domain (CTD) of Pol II largest subunit (PubMed:11714725, PubMed:22854966).

2 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">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="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...
BioGRIDi
117764, 29 interactors

ComplexPortal: manually curated resource of macromolecular complexes

More...
ComplexPortali
CPX-1949, Elongator holoenzyme complex

CORUM comprehensive resource of mammalian protein complexes

More...
CORUMi
Q96EB1

Protein interaction database and analysis system

More...
IntActi
Q96EB1, 10 interactors

Molecular INTeraction database

More...
MINTi
Q96EB1

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000379267

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q96EB1, protein

<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

<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 ELP4 family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG3949, Eukaryota

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000001443

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_031345_3_1_1

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q96EB1

KEGG Orthology (KO)

More...
KOi
K11375

Database of Orthologous Groups

More...
OrthoDBi
450922at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q96EB1

TreeFam database of animal gene trees

More...
TreeFami
TF320797

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR008728, Elongator_complex_protein_4

The PANTHER Classification System

More...
PANTHERi
PTHR12896, PTHR12896, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF05625, PAXNEB, 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%5Flength">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 (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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 3 <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. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 21 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q96EB1-1) [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
MAAVATCGSV AASTGSAVAT ASKSNVTSFQ RRGPRASVTN DSGPRLVSIA
60 70 80 90 100
GTRPSVRNGQ LLVSTGLPAL DQLLGGGLAV GTVLLIEEDK YNIYSPLLFK
110 120 130 140 150
YFLAEGIVNG HTLLVASAKE DPANILQELP APLLDDKCKK EFDEDVYNHK
160 170 180 190 200
TPESNIKMKI AWRYQLLPKM EIGPVSSSRF GHYYDASKRM PQELIEASNW
210 220 230 240 250
HGFFLPEKIS STLKVEPCSL TPGYTKLLQF IQNIIYEEGF DGSNPQKKQR
260 270 280 290 300
NILRIGIQNL GSPLWGDDIC CAENGGNSHS LTKFLYVLRG LLRTSLSACI
310 320 330 340 350
ITMPTHLIQN KAIIARVTTL SDVVVGLESF IGSERETNPL YKDYHGLIHI
360 370 380 390 400
RQIPRLNNLI CDESDVKDLA FKLKRKLFTI ERLHLPPDLS DTVSRSSKMD
410 420
LAESAKRLGP GCGMMAGGKK HLDF
Length:424
Mass (Da):46,588
Last modified:April 17, 2007 - 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:iA044C964F7C91E73
GO
Isoform 2 (identifier: Q96EB1-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     382-424: RLHLPPDLSD...MAGGKKHLDF → AGVQWHDLGS...CICLQTCQTQ

Show »
Length:535
Mass (Da):58,713
Checksum:i86E6DD3B545E96D4
GO
Isoform 3 (identifier: Q96EB1-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     171-171: E → EQ
     382-424: RLHLPPDLSD...MAGGKKHLDF → WVQDNYLRQE...EAPGLLGIPP

Show »
Length:476
Mass (Da):52,765
Checksum:iBFF62363BDE99D41
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 21 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A1W2PP47A0A1W2PP47_HUMAN
Elongator complex protein 4
ELP4
359Annotation 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>
G5E9D4G5E9D4_HUMAN
Elongator complex protein 4
ELP4 hCG_27855
535Annotation 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>
A0A1W2PNW2A0A1W2PNW2_HUMAN
Elongator complex protein 4
ELP4
234Annotation 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>
A0A1W2PNY5A0A1W2PNY5_HUMAN
Elongator complex protein 4
ELP4
386Annotation 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>
A0A1W2PPP6A0A1W2PPP6_HUMAN
Elongator complex protein 4
ELP4
424Annotation 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>
A0A1W2PQZ6A0A1W2PQZ6_HUMAN
Elongator complex protein 4
ELP4
392Annotation 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>
A0A1W2PR08A0A1W2PR08_HUMAN
Elongator complex protein 4
ELP4
450Annotation 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>
A0A1W2PRF0A0A1W2PRF0_HUMAN
Elongator complex protein 4
ELP4
395Annotation 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>
A0A1W2PRF5A0A1W2PRF5_HUMAN
Elongator complex protein 4
ELP4
475Annotation 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>
A0A1W2PRJ0A0A1W2PRJ0_HUMAN
Elongator complex protein 4
ELP4
396Annotation 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>
There are more potential isoformsShow all

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_053881300I → L. Corresponds to variant dbSNP:rs34804357Ensembl.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_054128171E → EQ in isoform 3. 1 Publication1
Alternative sequenceiVSP_024409382 – 424RLHLP…KHLDF → AGVQWHDLGSRRPRLLGSGG SPASASLVAGITGAHHHAQL IFVFLVEMGFHHVGQAGLEL LTSGDSSASASQSAGIAGMS YRARPRALYFKENKSKVGAR QLLETREEHLSSRLLILTQA ERLCMGRRFFTAFHIFNELP CKGDCICLQTCQTQ in isoform 2. 1 PublicationAdd BLAST43
Alternative sequenceiVSP_054129382 – 424RLHLP…KHLDF → WVQDNYLRQERNIYPPGFSY LLKQKDSAWGEGSLQHSTFL MSFLAKATAFASRLVRHSEP LKQNGSGRIRQAAGPRLWHD GRRQEAPGLLGIPP in isoform 3. 1 PublicationAdd BLAST43

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
AL136677 mRNA Translation: CAB66612.1
AK000505 mRNA Translation: BAA91212.1
AK304885 mRNA Translation: BAG65622.1
AC108456 Genomic DNA No translation available.
AC131571 Genomic DNA No translation available.
Z83001 Genomic DNA No translation available.
Z83306 Genomic DNA No translation available.
Z83307 Genomic DNA No translation available.
BC012514 mRNA Translation: AAH12514.1
AJ276005 Genomic DNA Translation: CAC08200.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS73271.1 [Q96EB1-3]
CCDS73272.1 [Q96EB1-2]
CCDS7875.2 [Q96EB1-1]

NCBI Reference Sequences

More...
RefSeqi
NP_001275654.1, NM_001288725.1 [Q96EB1-3]
NP_001275655.1, NM_001288726.1
NP_061913.3, NM_019040.4 [Q96EB1-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000379163; ENSP00000368461; ENSG00000109911 [Q96EB1-3]
ENST00000640961; ENSP00000492152; ENSG00000109911 [Q96EB1-1]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
26610

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:26610

UCSC genome browser

More...
UCSCi
uc001mtb.5, human [Q96EB1-1]

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
AL136677 mRNA Translation: CAB66612.1
AK000505 mRNA Translation: BAA91212.1
AK304885 mRNA Translation: BAG65622.1
AC108456 Genomic DNA No translation available.
AC131571 Genomic DNA No translation available.
Z83001 Genomic DNA No translation available.
Z83306 Genomic DNA No translation available.
Z83307 Genomic DNA No translation available.
BC012514 mRNA Translation: AAH12514.1
AJ276005 Genomic DNA Translation: CAC08200.1
CCDSiCCDS73271.1 [Q96EB1-3]
CCDS73272.1 [Q96EB1-2]
CCDS7875.2 [Q96EB1-1]
RefSeqiNP_001275654.1, NM_001288725.1 [Q96EB1-3]
NP_001275655.1, NM_001288726.1
NP_061913.3, NM_019040.4 [Q96EB1-1]

3D structure databases

Database of comparative protein structure models

More...
ModBasei
Search...

SWISS-MODEL Interactive Workspace

More...
SWISS-MODEL-Workspacei
Submit a new modelling project...

Protein-protein interaction databases

BioGRIDi117764, 29 interactors
ComplexPortaliCPX-1949, Elongator holoenzyme complex
CORUMiQ96EB1
IntActiQ96EB1, 10 interactors
MINTiQ96EB1
STRINGi9606.ENSP00000379267

PTM databases

iPTMnetiQ96EB1
PhosphoSitePlusiQ96EB1

Polymorphism and mutation databases

BioMutaiELP4
DMDMi145558903

Proteomic databases

EPDiQ96EB1
jPOSTiQ96EB1
MassIVEiQ96EB1
MaxQBiQ96EB1
PaxDbiQ96EB1
PeptideAtlasiQ96EB1
PRIDEiQ96EB1
ProteomicsDBi5926
76391 [Q96EB1-1]
76392 [Q96EB1-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...
Antibodypediai
25549, 134 antibodies

The DNASU plasmid repository

More...
DNASUi
26610

Genome annotation databases

EnsembliENST00000379163; ENSP00000368461; ENSG00000109911 [Q96EB1-3]
ENST00000640961; ENSP00000492152; ENSG00000109911 [Q96EB1-1]
GeneIDi26610
KEGGihsa:26610
UCSCiuc001mtb.5, human [Q96EB1-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
26610
DisGeNETi26610
EuPathDBiHostDB:ENSG00000109911.17

GeneCards: human genes, protein and diseases

More...
GeneCardsi
ELP4
HGNCiHGNC:1171, ELP4
HPAiENSG00000109911, Low tissue specificity
MalaCardsiELP4
MIMi606985, gene
617141, phenotype
neXtProtiNX_Q96EB1
OpenTargetsiENSG00000109911
PharmGKBiPA27764

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG3949, Eukaryota
GeneTreeiENSGT00390000001443
HOGENOMiCLU_031345_3_1_1
InParanoidiQ96EB1
KOiK11375
OrthoDBi450922at2759
PhylomeDBiQ96EB1
TreeFamiTF320797

Enzyme and pathway databases

UniPathwayiUPA00988
PathwayCommonsiQ96EB1
ReactomeiR-HSA-3214847, HATs acetylate histones

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...
BioGRID-ORCSi
26610, 419 hits in 880 CRISPR screens

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

More...
ChiTaRSi
ELP4, human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
ELP4

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

More...
GenomeRNAii
26610
PharosiQ96EB1, Tbio

Protein Ontology

More...
PROi
PR:Q96EB1
RNActiQ96EB1, protein

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000109911, Expressed in ventricular zone and 212 other tissues
ExpressionAtlasiQ96EB1, baseline and differential
GenevisibleiQ96EB1, HS

Family and domain databases

InterProiView protein in InterPro
IPR008728, Elongator_complex_protein_4
PANTHERiPTHR12896, PTHR12896, 1 hit
PfamiView protein in Pfam
PF05625, PAXNEB, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
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 nameiELP4_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: Q96EB1
Secondary accession number(s): B4E3W0
, E7EPZ6, Q9H4E8, Q9NX11
<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%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 17, 2007
Last sequence update: April 17, 2007
Last modified: August 12, 2020
This is version 141 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

Reference proteome

Documents

  1. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. SIMILARITY comments
    Index of protein domains and families
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