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UniProtKB - Q96EB1 (ELP4_HUMAN)

Entry version 146 (23 Feb 2022)
Sequence version 2 (17 Apr 2007)
Previous versions | rss
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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 elongator complex which is required for multiple tRNA modifications, including mcm5U (5-methoxycarbonylmethyl uridine), mcm5s2U (5-methoxycarbonylmethyl-2-thiouridine), and ncm5U (5-carbamoylmethyl uridine) (PubMed:29332244).

The elongator complex catalyzes the formation of carboxymethyluridine in the wobble base at position 34 in tRNAs (PubMed:29332244).

1 Publication

Caution

The elongator complex was originally thought to play a role in transcription elongation. However, it is no longer thought to play a direct role in this process and its primary function is thought to be in tRNA modification.4 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

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<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 processtRNA 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

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...SignaLinki		Q96EB1

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

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

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000109911

<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

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 variants 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

Genetic variation 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, Tissue enhanced (brain)

<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 elongator complex which consists of ELP1, ELP2, ELP3, ELP4, ELP5 and ELP6 (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, 47 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, 11 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 the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

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

More...SMRi		Q96EB1

Database of comparative protein structure models

More...ModBasei		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

<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

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

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		3.40.50.300, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR008728, Elongator_complex_protein_4
IPR027417, P-loop_NTPase

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.<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 <p><strong>What is the canonical sequence?</strong><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>
A0A1W2PPR3A0A1W2PPR3_HUMAN
Elongator complex protein 4
ELP4
101Annotation 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>
A0A1X7SBS0A0A1X7SBS0_HUMAN
Elongator complex protein 4
ELP4
425Annotation 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>
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:rs34804357EnsemblClinVar.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

Database of genes from NCBI RefSeq genomes

More...GeneIDi		26610

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:26610

Matched Annotation from NCBI and EMBL-EBI (MANE) - Phase one

More...MANE-Selecti		ENST00000640961.2; ENSP00000492152.1; NM_019040.5; NP_061913.3

UCSC genome browser

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

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
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

SMRiQ96EB1
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi117764, 47 interactors
ComplexPortaliCPX-1949, Elongator holoenzyme complex
CORUMiQ96EB1
IntActiQ96EB1, 11 interactors
MINTiQ96EB1
STRINGi9606.ENSP00000379267

PTM databases

iPTMnetiQ96EB1
PhosphoSitePlusiQ96EB1

Genetic variation 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, 141 antibodies from 26 providers

The DNASU plasmid repository

More...DNASUi		26610

Genome annotation databases

EnsembliENST00000379163; ENSP00000368461; ENSG00000109911 [Q96EB1-3]
ENST00000640961; ENSP00000492152; ENSG00000109911
GeneIDi26610
KEGGihsa:26610
MANE-SelectiENST00000640961.2; ENSP00000492152.1; NM_019040.5; NP_061913.3
UCSCiuc001mtb.5, human [Q96EB1-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		26610
DisGeNETi26610

GeneCards: human genes, protein and diseases

More...GeneCardsi		ELP4
HGNCiHGNC:1171, ELP4
HPAiENSG00000109911, Tissue enhanced (brain)
MalaCardsiELP4
MIMi606985, gene
617141, phenotype
neXtProtiNX_Q96EB1
OpenTargetsiENSG00000109911
PharmGKBiPA27764
VEuPathDBiHostDB:ENSG00000109911

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG3949, Eukaryota
GeneTreeiENSGT00390000001443
HOGENOMiCLU_031345_3_1_1
InParanoidiQ96EB1
OrthoDBi450922at2759
PhylomeDBiQ96EB1
TreeFamiTF320797

Enzyme and pathway databases

UniPathwayiUPA00988
PathwayCommonsiQ96EB1
ReactomeiR-HSA-3214847, HATs acetylate histones
SignaLinkiQ96EB1

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		26610, 451 hits in 1063 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

Gene3Di3.40.50.300, 1 hit
InterProiView protein in InterPro
IPR008728, Elongator_complex_protein_4
IPR027417, P-loop_NTPase
PANTHERiPTHR12896, PTHR12896, 1 hit
PfamiView protein in Pfam
PF05625, PAXNEB, 1 hit

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: February 23, 2022
This is version 146 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 genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  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
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