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Entry version 192 (16 Oct 2019)
Sequence version 3 (23 Oct 2007)
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Protein

Translation initiation factor eIF-2B subunit epsilon

Gene

EIF2B5

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

Catalyzes the exchange of eukaryotic initiation factor 2-bound GDP for GTP.

<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 functionInitiation factor
Biological processProtein biosynthesis

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

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Reactomei
R-HSA-72731 Recycling of eIF2:GDP

SIGNOR Signaling Network Open Resource

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SIGNORi
Q13144

<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:
Translation initiation factor eIF-2B subunit epsilon
Alternative name(s):
eIF-2B GDP-GTP exchange factor subunit epsilon
<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:EIF2B5
Synonyms:EIF2BE
<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 3

Organism-specific databases

Human Gene Nomenclature Database

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HGNCi
HGNC:3261 EIF2B5

Online Mendelian Inheritance in Man (OMIM)

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MIMi
603945 gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_Q13144

<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

<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

Leukodystrophy with vanishing white matter (VWM)6 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA leukodystrophy that occurs mainly in children. Neurological signs include progressive cerebellar ataxia, spasticity, inconstant optic atrophy and relatively preserved mental abilities. The disease is chronic-progressive with, in most individuals, additional episodes of rapid deterioration following febrile infections or minor head trauma. While childhood onset is the most common form of the disorder, some severe forms are apparent at birth. A severe, early-onset form seen among the Cree and Chippewayan populations of Quebec and Manitoba is called Cree leukoencephalopathy. Milder forms may not become evident until adolescence or adulthood. Some females with milder forms of the disease who survive to adolescence exhibit ovarian dysfunction. This variant of the disorder is called ovarioleukodystrophy.
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_06845762D → V in VWM. 1 Publication1
Natural variantiVAR_06845868L → S in VWM. 1 PublicationCorresponds to variant dbSNP:rs113994044Ensembl.1
Natural variantiVAR_01232373V → G in VWM. 1 PublicationCorresponds to variant dbSNP:rs113994045Ensembl.1
Natural variantiVAR_06845974A → T in VWM. 1 PublicationCorresponds to variant dbSNP:rs113994046Ensembl.1
Natural variantiVAR_01229191T → A in VWM. 1 PublicationCorresponds to variant dbSNP:rs28939717EnsemblClinVar.1
Natural variantiVAR_012324106L → F in VWM. 1 PublicationCorresponds to variant dbSNP:rs113994048EnsemblClinVar.1
Natural variantiVAR_068460113R → C in VWM. 1 PublicationCorresponds to variant dbSNP:rs113994050Ensembl.1
Natural variantiVAR_012292113R → H in VWM; with ovarian failure. 3 PublicationsCorresponds to variant dbSNP:rs113994049EnsemblClinVar.1
Natural variantiVAR_016845195R → C in VWM; with ovarian failure. 1 PublicationCorresponds to variant dbSNP:rs113994055EnsemblClinVar.1
Natural variantiVAR_016846195R → H in VWM; Cree leukoencephalopathy type. 1 PublicationCorresponds to variant dbSNP:rs113994054EnsemblClinVar.1
Natural variantiVAR_068461269R → G in VWM. 1 PublicationCorresponds to variant dbSNP:rs113994058Ensembl.1
Natural variantiVAR_068462269R → Q in VWM. 1 PublicationCorresponds to variant dbSNP:rs113994057Ensembl.1
Natural variantiVAR_068463270D → H in VWM. 1 PublicationCorresponds to variant dbSNP:rs397514646EnsemblClinVar.1
Natural variantiVAR_012325299R → H in VWM. 1 PublicationCorresponds to variant dbSNP:rs113994060EnsemblClinVar.1
Natural variantiVAR_068464310C → F in VWM. 1 PublicationCorresponds to variant dbSNP:rs113994062Ensembl.1
Natural variantiVAR_068465315R → C in VWM. 1 PublicationCorresponds to variant dbSNP:rs113994063Ensembl.1
Natural variantiVAR_012326315R → G in VWM. 1 PublicationCorresponds to variant dbSNP:rs113994063Ensembl.1
Natural variantiVAR_012327315R → H in VWM. 1 PublicationCorresponds to variant dbSNP:rs113994064EnsemblClinVar.1
Natural variantiVAR_068466335C → R in VWM. 1 PublicationCorresponds to variant dbSNP:rs113994067Ensembl.1
Natural variantiVAR_068467335C → S in VWM. 1 Publication1
Natural variantiVAR_012328339R → P in VWM. 2 PublicationsCorresponds to variant dbSNP:rs113994069EnsemblClinVar.1
Natural variantiVAR_012329339R → Q in VWM. 1 PublicationCorresponds to variant dbSNP:rs113994069EnsemblClinVar.1
Natural variantiVAR_012330339R → W in VWM. 1 PublicationCorresponds to variant dbSNP:rs113994068Ensembl.1
Natural variantiVAR_068468376N → D in VWM. 1 Publication1
Natural variantiVAR_012293386G → V in VWM. 2 PublicationsCorresponds to variant dbSNP:rs113994074EnsemblClinVar.1
Natural variantiVAR_012331430V → A in VWM. 1 PublicationCorresponds to variant dbSNP:rs113994079Ensembl.1
Natural variantiVAR_068469447S → L in VWM. 1 PublicationCorresponds to variant dbSNP:rs113994080Ensembl.1
Natural variantiVAR_012294628W → R in VWM. 1 PublicationCorresponds to variant dbSNP:rs28937596EnsemblClinVar.1
Natural variantiVAR_012333650E → K in VWM. 1 PublicationCorresponds to variant dbSNP:rs113994085Ensembl.1

Keywords - Diseasei

Disease mutation, Leukodystrophy

Organism-specific databases

DisGeNET

More...
DisGeNETi
8893

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

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GeneReviewsi
EIF2B5

MalaCards human disease database

More...
MalaCardsi
EIF2B5
MIMi603896 phenotype

Open Targets

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OpenTargetsi
ENSG00000145191

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
157713 Congenital or early infantile CACH syndrome
99854 Cree leukoencephalopathy
157719 Juvenile or adult CACH syndrome
157716 Late infantile CACH syndrome
99853 Ovarioleukodystrophy

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA27692

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

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Pharosi
Q13144

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
EIF2B5

Domain mapping of disease mutations (DMDM)

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DMDMi
160359049

<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 <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section indicates that the initiator methionine is cleaved from the mature protein.<p><a href='/help/init_met' target='_top'>More...</a></p>Initiator methionineiRemovedCombined sources
<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_00001560732 – 721Translation initiation factor eIF-2B subunit epsilonAdd BLAST720

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei2N-acetylalanineCombined sources1
Modified residuei19Omega-N-methylarginineBy similarity1
Modified residuei27PhosphoserineBy similarity1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section describes <strong>covalent linkages</strong> of various types formed <strong>between two proteins (interchain cross-links)</strong> or <strong>between two parts of the same protein (intrachain cross-links)</strong>, except the disulfide bonds that are annotated in the <a href="http://www.uniprot.org/manual/disulfid">'Disulfide bond'</a> subsection.<p><a href='/help/crosslnk' target='_top'>More...</a></p>Cross-linki61Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)By similarity
Cross-linki103Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)By similarity
Modified residuei130PhosphoserineBy similarity1
Cross-linki141Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)By similarity
Cross-linki217Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)By similarity
Modified residuei322PhosphothreonineBy similarity1
Modified residuei450PhosphoserineCombined sources1
Modified residuei466PhosphoserineCombined sources1
Modified residuei469PhosphoserineCombined sources1
Modified residuei532PhosphoserineBy similarity1
Modified residuei540PhosphoserineBy similarity1
Modified residuei544Phosphoserine; by DYRK2Combined sources1
Modified residuei717PhosphoserineCombined sources1

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

Phosphorylated at Ser-544 by DYRK2; this is required for subsequent phosphorylation by GSK3B (By similarity). Phosphorylated on serine and threonine residues by GSK3B; phosphorylation inhibits its function.By similarity1 Publication
Polyubiquitinated, probably by NEDD4.By similarity

Keywords - PTMi

Acetylation, Isopeptide bond, Methylation, Phosphoprotein, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q13144

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q13144

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q13144

MaxQB - The MaxQuant DataBase

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MaxQBi
Q13144

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

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PaxDbi
Q13144

PeptideAtlas

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PeptideAtlasi
Q13144

PRoteomics IDEntifications database

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PRIDEi
Q13144

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
59187

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q13144

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

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PhosphoSitePlusi
Q13144

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
Q13144

<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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000145191 Expressed in 226 organ(s), highest expression level in small intestine Peyer's patch

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q13144 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q13144 HS

Organism-specific databases

Human Protein Atlas

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HPAi
CAB015412
HPA064370
HPA069303

<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

Complex of five different subunits; alpha, beta, gamma, delta and epsilon.

Interacts with RGS2.

1 Publication

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

WithEntry#Exp.IntActNotes
GSK3BP498412EBI-4401110,EBI-373586

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
114410, 54 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
Q13144

Protein interaction database and analysis system

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IntActi
Q13144, 35 interactors

Molecular INTeraction database

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MINTi
Q13144

STRING: functional protein association networks

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STRINGi
9606.ENSP00000273783

<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

1721
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
Q13144

Database of comparative protein structure models

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ModBasei
Search...

Protein Data Bank in Europe - Knowledge Base

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PDBe-KBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

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EvolutionaryTracei
Q13144

<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>Domaini543 – 720W2PROSITE-ProRule annotationAdd BLAST178

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 biasi505 – 509Poly-Glu5

<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

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG1461 Eukaryota
COG1208 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00510000047568

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000216610

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q13144

KEGG Orthology (KO)

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KOi
K03240

Identification of Orthologs from Complete Genome Data

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OMAi
NVAMIDY

Database of Orthologous Groups

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OrthoDBi
369837at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q13144

TreeFam database of animal gene trees

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TreeFami
TF101509

Family and domain databases

Conserved Domains Database

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CDDi
cd04197 eIF-2B_epsilon_N, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
1.25.40.180, 1 hit
3.90.550.10, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR016024 ARM-type_fold
IPR035543 eIF-2B_epsilon_N
IPR001451 Hexapep
IPR016021 MIF4-like_sf
IPR029044 Nucleotide-diphossugar_trans
IPR011004 Trimer_LpxA-like_sf
IPR003307 W2_domain

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00132 Hexapep, 1 hit
PF02020 W2, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00515 eIF5C, 1 hit

Superfamily database of structural and functional annotation

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SUPFAMi
SSF48371 SSF48371, 1 hit
SSF51161 SSF51161, 1 hit
SSF53448 SSF53448, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS51363 W2, 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>Sequence (1+)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.

<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 in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry has 1 described isoform and 17 potential isoforms that are computationally mapped.Show allAlign All

Q13144-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MAAPVVAPPG VVVSRANKRS GAGPGGSGGG GARGAEEEPP PPLQAVLVAD
60 70 80 90 100
SFDRRFFPIS KDQPRVLLPL ANVALIDYTL EFLTATGVQE TFVFCCWKAA
110 120 130 140 150
QIKEHLLKSK WCRPTSLNVV RIITSELYRS LGDVLRDVDA KALVRSDFLL
160 170 180 190 200
VYGDVISNIN ITRALEEHRL RRKLEKNVSV MTMIFKESSP SHPTRCHEDN
210 220 230 240 250
VVVAVDSTTN RVLHFQKTQG LRRFAFPLSL FQGSSDGVEV RYDLLDCHIS
260 270 280 290 300
ICSPQVAQLF TDNFDYQTRD DFVRGLLVNE EILGNQIHMH VTAKEYGARV
310 320 330 340 350
SNLHMYSAVC ADVIRRWVYP LTPEANFTDS TTQSCTHSRH NIYRGPEVSL
360 370 380 390 400
GHGSILEENV LLGSGTVIGS NCFITNSVIG PGCHIGDNVV LDQTYLWQGV
410 420 430 440 450
RVAAGAQIHQ SLLCDNAEVK ERVTLKPRSV LTSQVVVGPN ITLPEGSVIS
460 470 480 490 500
LHPPDAEEDE DDGEFSDDSG ADQEKDKVKM KGYNPAEVGA AGKGYLWKAA
510 520 530 540 550
GMNMEEEEEL QQNLWGLKIN MEEESESESE QSMDSEEPDS RGGSPQMDDI
560 570 580 590 600
KVFQNEVLGT LQRGKEENIS CDNLVLEINS LKYAYNISLK EVMQVLSHVV
610 620 630 640 650
LEFPLQQMDS PLDSSRYCAL LLPLLKAWSP VFRNYIKRAA DHLEALAAIE
660 670 680 690 700
DFFLEHEALG ISMAKVLMAF YQLEILAEET ILSWFSQRDT TDKGQQLRKN
710 720
QQLQRFIQWL KEAEEESSED D
Length:721
Mass (Da):80,380
Last modified:October 23, 2007 - v3
<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:i08B39D3A5EE7D905
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 17 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A3B3IUB1A0A3B3IUB1_HUMAN
Translation initiation factor eIF-2...
EIF2B5
729Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A3B3ISX3A0A3B3ISX3_HUMAN
Translation initiation factor eIF-2...
EIF2B5
530Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A3B3ITG6A0A3B3ITG6_HUMAN
Translation initiation factor eIF-2...
EIF2B5
546Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
C9JRD9C9JRD9_HUMAN
Translation initiation factor eIF-2...
EIF2B5
107Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H7C2X0H7C2X0_HUMAN
Translation initiation factor eIF-2...
EIF2B5
92Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A3B3ISM8A0A3B3ISM8_HUMAN
Translation initiation factor eIF-2...
EIF2B5
402Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A3B3IUF2A0A3B3IUF2_HUMAN
Translation initiation factor eIF-2...
EIF2B5
389Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A3B3IRP4A0A3B3IRP4_HUMAN
Translation initiation factor eIF-2...
EIF2B5
314Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A3B3IS56A0A3B3IS56_HUMAN
Translation initiation factor eIF-2...
EIF2B5
269Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A3B3ISS1A0A3B3ISS1_HUMAN
Translation initiation factor eIF-2...
EIF2B5
267Annotation score:

Annotation score:1 out of 5

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

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06845762D → V in VWM. 1 Publication1
Natural variantiVAR_06845868L → S in VWM. 1 PublicationCorresponds to variant dbSNP:rs113994044Ensembl.1
Natural variantiVAR_01232373V → G in VWM. 1 PublicationCorresponds to variant dbSNP:rs113994045Ensembl.1
Natural variantiVAR_06845974A → T in VWM. 1 PublicationCorresponds to variant dbSNP:rs113994046Ensembl.1
Natural variantiVAR_01229191T → A in VWM. 1 PublicationCorresponds to variant dbSNP:rs28939717EnsemblClinVar.1
Natural variantiVAR_012324106L → F in VWM. 1 PublicationCorresponds to variant dbSNP:rs113994048EnsemblClinVar.1
Natural variantiVAR_068460113R → C in VWM. 1 PublicationCorresponds to variant dbSNP:rs113994050Ensembl.1
Natural variantiVAR_012292113R → H in VWM; with ovarian failure. 3 PublicationsCorresponds to variant dbSNP:rs113994049EnsemblClinVar.1
Natural variantiVAR_016845195R → C in VWM; with ovarian failure. 1 PublicationCorresponds to variant dbSNP:rs113994055EnsemblClinVar.1
Natural variantiVAR_016846195R → H in VWM; Cree leukoencephalopathy type. 1 PublicationCorresponds to variant dbSNP:rs113994054EnsemblClinVar.1
Natural variantiVAR_048919200N → T. Corresponds to variant dbSNP:rs2971409Ensembl.1
Natural variantiVAR_068461269R → G in VWM. 1 PublicationCorresponds to variant dbSNP:rs113994058Ensembl.1
Natural variantiVAR_068462269R → Q in VWM. 1 PublicationCorresponds to variant dbSNP:rs113994057Ensembl.1
Natural variantiVAR_068463270D → H in VWM. 1 PublicationCorresponds to variant dbSNP:rs397514646EnsemblClinVar.1
Natural variantiVAR_012325299R → H in VWM. 1 PublicationCorresponds to variant dbSNP:rs113994060EnsemblClinVar.1
Natural variantiVAR_068464310C → F in VWM. 1 PublicationCorresponds to variant dbSNP:rs113994062Ensembl.1
Natural variantiVAR_068465315R → C in VWM. 1 PublicationCorresponds to variant dbSNP:rs113994063Ensembl.1
Natural variantiVAR_012326315R → G in VWM. 1 PublicationCorresponds to variant dbSNP:rs113994063Ensembl.1
Natural variantiVAR_012327315R → H in VWM. 1 PublicationCorresponds to variant dbSNP:rs113994064EnsemblClinVar.1
Natural variantiVAR_068466335C → R in VWM. 1 PublicationCorresponds to variant dbSNP:rs113994067Ensembl.1
Natural variantiVAR_068467335C → S in VWM. 1 Publication1
Natural variantiVAR_012328339R → P in VWM. 2 PublicationsCorresponds to variant dbSNP:rs113994069EnsemblClinVar.1
Natural variantiVAR_012329339R → Q in VWM. 1 PublicationCorresponds to variant dbSNP:rs113994069EnsemblClinVar.1
Natural variantiVAR_012330339R → W in VWM. 1 PublicationCorresponds to variant dbSNP:rs113994068Ensembl.1
Natural variantiVAR_068468376N → D in VWM. 1 Publication1
Natural variantiVAR_012293386G → V in VWM. 2 PublicationsCorresponds to variant dbSNP:rs113994074EnsemblClinVar.1
Natural variantiVAR_012331430V → A in VWM. 1 PublicationCorresponds to variant dbSNP:rs113994079Ensembl.1
Natural variantiVAR_068469447S → L in VWM. 1 PublicationCorresponds to variant dbSNP:rs113994080Ensembl.1
Natural variantiVAR_012332587I → V5 PublicationsCorresponds to variant dbSNP:rs843358EnsemblClinVar.1
Natural variantiVAR_012294628W → R in VWM. 1 PublicationCorresponds to variant dbSNP:rs28937596EnsemblClinVar.1
Natural variantiVAR_012333650E → K in VWM. 1 PublicationCorresponds to variant dbSNP:rs113994085Ensembl.1

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
AK091646 mRNA Translation: BAC03712.1
AC131235 Genomic DNA No translation available.
CH471052 Genomic DNA Translation: EAW78299.1
BC013590 mRNA Translation: AAH13590.1
U23028 mRNA Translation: AAC50646.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS3252.1

NCBI Reference Sequences

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RefSeqi
NP_003898.2, NM_003907.2

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000648915; ENSP00000497160; ENSG00000145191

Database of genes from NCBI RefSeq genomes

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GeneIDi
8893

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:8893

UCSC genome browser

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UCSCi
uc003fmp.4 human

Keywords - Coding sequence diversityi

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

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Mendelian genes eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa (EIF2B5)

Leiden Open Variation Database (LOVD)

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK091646 mRNA Translation: BAC03712.1
AC131235 Genomic DNA No translation available.
CH471052 Genomic DNA Translation: EAW78299.1
BC013590 mRNA Translation: AAH13590.1
U23028 mRNA Translation: AAC50646.1
CCDSiCCDS3252.1
RefSeqiNP_003898.2, NM_003907.2

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...
PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

More...
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3JUIX-ray2.00A548-721[»]
6CAJelectron microscopy2.80A/B1-721[»]
6EZOelectron microscopy4.10I/J1-721[»]
6K71electron microscopy4.30I/J1-721[»]
6K72electron microscopy4.60I/J1-721[»]
6O81electron microscopy3.21A/B1-721[»]
6O85electron microscopy3.03A/B1-721[»]
6O9Zelectron microscopy3.03A/B1-721[»]
SMRiQ13144
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGridi114410, 54 interactors
CORUMiQ13144
IntActiQ13144, 35 interactors
MINTiQ13144
STRINGi9606.ENSP00000273783

PTM databases

iPTMnetiQ13144
PhosphoSitePlusiQ13144
SwissPalmiQ13144

Polymorphism and mutation databases

BioMutaiEIF2B5
DMDMi160359049

Proteomic databases

EPDiQ13144
jPOSTiQ13144
MassIVEiQ13144
MaxQBiQ13144
PaxDbiQ13144
PeptideAtlasiQ13144
PRIDEiQ13144
ProteomicsDBi59187

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
8893

Genome annotation databases

EnsembliENST00000648915; ENSP00000497160; ENSG00000145191
GeneIDi8893
KEGGihsa:8893
UCSCiuc003fmp.4 human

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
8893
DisGeNETi8893

GeneCards: human genes, protein and diseases

More...
GeneCardsi
EIF2B5
GeneReviewsiEIF2B5
HGNCiHGNC:3261 EIF2B5
HPAiCAB015412
HPA064370
HPA069303
MalaCardsiEIF2B5
MIMi603896 phenotype
603945 gene
neXtProtiNX_Q13144
OpenTargetsiENSG00000145191
Orphaneti157713 Congenital or early infantile CACH syndrome
99854 Cree leukoencephalopathy
157719 Juvenile or adult CACH syndrome
157716 Late infantile CACH syndrome
99853 Ovarioleukodystrophy
PharmGKBiPA27692

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1461 Eukaryota
COG1208 LUCA
GeneTreeiENSGT00510000047568
HOGENOMiHOG000216610
InParanoidiQ13144
KOiK03240
OMAiNVAMIDY
OrthoDBi369837at2759
PhylomeDBiQ13144
TreeFamiTF101509

Enzyme and pathway databases

ReactomeiR-HSA-72731 Recycling of eIF2:GDP
SIGNORiQ13144

Miscellaneous databases

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

More...
ChiTaRSi
EIF2B5 human
EvolutionaryTraceiQ13144

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
EIF2B5

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

More...
GenomeRNAii
8893
PharosiQ13144

Protein Ontology

More...
PROi
PR:Q13144

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000145191 Expressed in 226 organ(s), highest expression level in small intestine Peyer's patch
ExpressionAtlasiQ13144 baseline and differential
GenevisibleiQ13144 HS

Family and domain databases

CDDicd04197 eIF-2B_epsilon_N, 1 hit
Gene3Di1.25.40.180, 1 hit
3.90.550.10, 1 hit
InterProiView protein in InterPro
IPR016024 ARM-type_fold
IPR035543 eIF-2B_epsilon_N
IPR001451 Hexapep
IPR016021 MIF4-like_sf
IPR029044 Nucleotide-diphossugar_trans
IPR011004 Trimer_LpxA-like_sf
IPR003307 W2_domain
PfamiView protein in Pfam
PF00132 Hexapep, 1 hit
PF02020 W2, 1 hit
SMARTiView protein in SMART
SM00515 eIF5C, 1 hit
SUPFAMiSSF48371 SSF48371, 1 hit
SSF51161 SSF51161, 1 hit
SSF53448 SSF53448, 1 hit
PROSITEiView protein in PROSITE
PS51363 W2, 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 nameiEI2BE_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: Q13144
Secondary accession number(s): Q541Z1, Q96D04
<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: November 1, 1997
Last sequence update: October 23, 2007
Last modified: October 16, 2019
This is version 192 of the entry and version 3 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. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  2. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  3. SIMILARITY comments
    Index of protein domains and families
  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 entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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