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Protein

Translation initiation factor eIF-2B subunit delta

Gene

EIF2B4

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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

GO - Molecular functioni

GO - Biological processi

  • myelination Source: UniProtKB
  • oligodendrocyte development Source: UniProtKB
  • ovarian follicle development Source: UniProtKB
  • regulation of translation Source: UniProtKB
  • response to glucose Source: UniProtKB
  • response to heat Source: UniProtKB
  • response to peptide hormone Source: UniProtKB
  • T cell receptor signaling pathway Source: UniProtKB
  • translational initiation Source: UniProtKB

Keywordsi

Molecular functionInitiation factor
Biological processProtein biosynthesis

Enzyme and pathway databases

ReactomeiR-HSA-72731 Recycling of eIF2:GDP
SIGNORiQ9UI10

Names & Taxonomyi

Protein namesi
Recommended name:
Translation initiation factor eIF-2B subunit delta
Alternative name(s):
eIF-2B GDP-GTP exchange factor subunit delta
Gene namesi
Name:EIF2B4
Synonyms:EIF2BD
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

EuPathDBiHostDB:ENSG00000115211.15
HGNCiHGNC:3260 EIF2B4
MIMi606687 gene
neXtProtiNX_Q9UI10

Subcellular locationi

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

Pathology & Biotechi

Involvement in diseasei

Leukodystrophy with vanishing white matter (VWM)3 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.
See also OMIM:603896
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_068455209R → Q in VWM. 1 PublicationCorresponds to variant dbSNP:rs113994028Ensembl.1
Natural variantiVAR_015405228A → V in VWM. 1 PublicationCorresponds to variant dbSNP:rs113994027EnsemblClinVar.1
Natural variantiVAR_068456269L → R in VWM. 1 PublicationCorresponds to variant dbSNP:rs113994031Ensembl.1
Natural variantiVAR_015407357R → Q in VWM. 1 PublicationCorresponds to variant dbSNP:rs113994033EnsemblClinVar.1
Natural variantiVAR_015408374R → C in VWM. 2 PublicationsCorresponds to variant dbSNP:rs113994035EnsemblClinVar.1
Natural variantiVAR_016843465C → R in VWM; with ovarian failure. 1 PublicationCorresponds to variant dbSNP:rs113994038EnsemblClinVar.1
Natural variantiVAR_016844489Y → H in VWM; with ovarian failure. 1 PublicationCorresponds to variant dbSNP:rs113994040EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Leukodystrophy

Organism-specific databases

DisGeNETi8890
GeneReviewsiEIF2B4
MalaCardsiEIF2B4
MIMi603896 phenotype
OpenTargetsiENSG00000115211
Orphaneti157713 Congenital or early infantile CACH syndrome
99854 Cree leukoencephalopathy
157719 Juvenile or adult CACH syndrome
157716 Late infantile CACH syndrome
99853 Ovarioleukodystrophy
PharmGKBiPA27691

Polymorphism and mutation databases

BioMutaiEIF2B4
DMDMi28381357

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemovedCombined sources
ChainiPRO_00001560672 – 523Translation initiation factor eIF-2B subunit deltaAdd BLAST522

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2N-acetylalanineCombined sources1
Modified residuei12PhosphoserineCombined sources1
Modified residuei86PhosphothreonineCombined sources1
Modified residuei130PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiQ9UI10
PaxDbiQ9UI10
PeptideAtlasiQ9UI10
PRIDEiQ9UI10

PTM databases

iPTMnetiQ9UI10
PhosphoSitePlusiQ9UI10

Expressioni

Gene expression databases

BgeeiENSG00000115211
CleanExiHS_EIF2B4
ExpressionAtlasiQ9UI10 baseline and differential
GenevisibleiQ9UI10 HS

Organism-specific databases

HPAiCAB032234
HPA039993

Interactioni

Subunit structurei

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

Binary interactionsi

Show more details

GO - Molecular functioni

Protein-protein interaction databases

BioGridi114407, 53 interactors
IntActiQ9UI10, 22 interactors
MINTiQ9UI10
STRINGi9606.ENSP00000394869

Structurei

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
6CAJelectron microscopy2.80E/F1-523[»]
6EZOelectron microscopy4.10G/H1-523[»]
ProteinModelPortaliQ9UI10
SMRiQ9UI10
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Phylogenomic databases

eggNOGiKOG1467 Eukaryota
COG1184 LUCA
GeneTreeiENSGT00550000075009
HOGENOMiHOG000176924
HOVERGENiHBG051459
InParanoidiQ9UI10
KOiK03680
PhylomeDBiQ9UI10
TreeFamiTF101508

Family and domain databases

InterProiView protein in InterPro
IPR000649 IF-2B-related
IPR037171 NagB/RpiA_transferase-like
PfamiView protein in Pfam
PF01008 IF-2B, 1 hit
SUPFAMiSSF100950 SSF100950, 1 hit

Sequences (3)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9UI10-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MAAVAVAVRE DSGSGMKAEL PPGPGAVGRE MTKEEKLQLR KEKKQQKKKR
60 70 80 90 100
KEEKGAEPET GSAVSAAQCQ VGPTRELPES GIQLGTPREK VPAGRSKAEL
110 120 130 140 150
RAERRAKQEA ERALKQARKG EQGGPPPKAS PSTAGETPSG VKRLPEYPQV
160 170 180 190 200
DDLLLRRLVK KPERQQVPTR KDYGSKVSLF SHLPQYSRQN SLTQFMSIPS
210 220 230 240 250
SVIHPAMVRL GLQYSQGLVS GSNARCIALL RALQQVIQDY TTPPNEELSR
260 270 280 290 300
DLVNKLKPYM SFLTQCRPLS ASMHNAIKFL NKEITSVGSS KREEEAKSEL
310 320 330 340 350
RAAIDRYVQE KIVLAAQAIS RFAYQKISNG DVILVYGCSS LVSRILQEAW
360 370 380 390 400
TEGRRFRVVV VDSRPWLEGR HTLRSLVHAG VPASYLLIPA ASYVLPEVSK
410 420 430 440 450
VLLGAHALLA NGSVMSRVGT AQLALVARAH NVPVLVCCET YKFCERVQTD
460 470 480 490 500
AFVSNELDDP DDLQCKRGEH VALANWQNHA SLRLLNLVYD VTPPELVDLV
510 520
ITELGMIPCS SVPVVLRVKS SDQ
Length:523
Mass (Da):57,557
Last modified:February 12, 2003 - v2
Checksum:i5F38CF10CAD5A45E
GO
Isoform 2 (identifier: Q9UI10-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-10: MAAVAVAVRE → MPTQQPAAPSTRAPKPSRSLSGSLCALFSDA
     71-71: Missing.

Show »
Length:543
Mass (Da):59,615
Checksum:iC65253AD9431E074
GO
Isoform 3 (identifier: Q9UI10-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     71-71: Missing.

Show »
Length:522
Mass (Da):57,458
Checksum:iD9A7E6FD35CD75F1
GO

Sequence cautioni

The sequence CAB57305 differs from that shown. Reason: Erroneous gene model prediction.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti197S → T in CAB57260 (Ref. 2) Curated1
Sequence conflicti197S → T in CAB57261 (Ref. 2) Curated1
Sequence conflicti197S → T in CAB57304 (Ref. 2) Curated1
Sequence conflicti197S → T in CAB57305 (Ref. 2) Curated1
Sequence conflicti323A → S in AAF17195 (PubMed:10931946).Curated1
Sequence conflicti481S → L in AAF17195 (PubMed:10931946).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04891893A → V. Corresponds to variant dbSNP:rs34155621Ensembl.1
Natural variantiVAR_068455209R → Q in VWM. 1 PublicationCorresponds to variant dbSNP:rs113994028Ensembl.1
Natural variantiVAR_015405228A → V in VWM. 1 PublicationCorresponds to variant dbSNP:rs113994027EnsemblClinVar.1
Natural variantiVAR_068456269L → R in VWM. 1 PublicationCorresponds to variant dbSNP:rs113994031Ensembl.1
Natural variantiVAR_015406306R → G1 PublicationCorresponds to variant dbSNP:rs78599355Ensembl.1
Natural variantiVAR_015407357R → Q in VWM. 1 PublicationCorresponds to variant dbSNP:rs113994033EnsemblClinVar.1
Natural variantiVAR_015408374R → C in VWM. 2 PublicationsCorresponds to variant dbSNP:rs113994035EnsemblClinVar.1
Natural variantiVAR_016843465C → R in VWM; with ovarian failure. 1 PublicationCorresponds to variant dbSNP:rs113994038EnsemblClinVar.1
Natural variantiVAR_016844489Y → H in VWM; with ovarian failure. 1 PublicationCorresponds to variant dbSNP:rs113994040EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0014331 – 10MAAVAVAVRE → MPTQQPAAPSTRAPKPSRSL SGSLCALFSDA in isoform 2. 1 Publication10
Alternative sequenceiVSP_04013071Missing in isoform 2 and isoform 3. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF112207 mRNA Translation: AAF17195.1
AJ011305 mRNA Translation: CAB57260.1
AJ011306 mRNA Translation: CAB57261.1
AJ011307, AJ011308 Genomic DNA Translation: CAB57304.1
AJ011307, AJ011308 Genomic DNA Translation: CAB57305.1 Sequence problems.
AC074117 Genomic DNA Translation: AAY14843.1
CH471053 Genomic DNA Translation: EAX00591.1
BC001870 mRNA Translation: AAH01870.1
BC091502 mRNA Translation: AAH91502.1
CCDSiCCDS33164.1 [Q9UI10-1]
CCDS46244.1 [Q9UI10-3]
CCDS46245.1 [Q9UI10-2]
RefSeqiNP_001029288.1, NM_001034116.1 [Q9UI10-1]
NP_001305894.1, NM_001318965.1
NP_001305895.1, NM_001318966.1
NP_001305896.1, NM_001318967.1
NP_001305897.1, NM_001318968.1
NP_056451.3, NM_015636.3 [Q9UI10-3]
NP_751945.2, NM_172195.3 [Q9UI10-2]
UniGeneiHs.169474

Genome annotation databases

EnsembliENST00000347454; ENSP00000233552; ENSG00000115211 [Q9UI10-1]
ENST00000445933; ENSP00000394397; ENSG00000115211 [Q9UI10-3]
ENST00000451130; ENSP00000394869; ENSG00000115211 [Q9UI10-2]
GeneIDi8890
KEGGihsa:8890
UCSCiuc002rjz.4 human [Q9UI10-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiEI2BD_HUMAN
AccessioniPrimary (citable) accession number: Q9UI10
Secondary accession number(s): Q53RY7
, Q5BJF4, Q9BUV9, Q9UBG4, Q9UIQ9, Q9UJ95
Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: February 12, 2003
Last modified: May 23, 2018
This is version 160 of the entry and version 2 of the sequence. See complete history.
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.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 2
    Human chromosome 2: 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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

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