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Protein

Translation initiation factor eIF-2B subunit gamma

Gene

EIF2B3

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

  • hippocampus development Source: Ensembl
  • oligodendrocyte development 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
SIGNORiQ9NR50

Names & Taxonomyi

Protein namesi
Recommended name:
Translation initiation factor eIF-2B subunit gamma
Alternative name(s):
eIF-2B GDP-GTP exchange factor subunit gamma
Gene namesi
Name:EIF2B3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

EuPathDBiHostDB:ENSG00000070785.16
HGNCiHGNC:3259 EIF2B3
MIMi606273 gene
neXtProtiNX_Q9NR50

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_06847027L → Q in VWM. 1 PublicationCorresponds to variant dbSNP:rs397514647EnsemblClinVar.1
Natural variantiVAR_06847147G → E in VWM. 1 Publication1
Natural variantiVAR_01540987A → V in VWM. 1 PublicationCorresponds to variant dbSNP:rs113994022EnsemblClinVar.1
Natural variantiVAR_015410225R → Q in VWM. 2 PublicationsCorresponds to variant dbSNP:rs113994024EnsemblClinVar.1
Natural variantiVAR_068472346I → T in VWM. 1 PublicationCorresponds to variant dbSNP:rs119474039EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Leukodystrophy

Organism-specific databases

DisGeNETi8891
GeneReviewsiEIF2B3
MalaCardsiEIF2B3
MIMi603896 phenotype
OpenTargetsiENSG00000070785
Orphaneti157713 Congenital or early infantile CACH syndrome
99854 Cree leukoencephalopathy
157719 Juvenile or adult CACH syndrome
157716 Late infantile CACH syndrome
99853 Ovarioleukodystrophy
PharmGKBiPA27690

Polymorphism and mutation databases

BioMutaiEIF2B3
DMDMi18203317

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001560791 – 452Translation initiation factor eIF-2B subunit gammaAdd BLAST452

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei1N-acetylmethionineCombined sources1 Publication1
Modified residuei260PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiQ9NR50
MaxQBiQ9NR50
PaxDbiQ9NR50
PeptideAtlasiQ9NR50
PRIDEiQ9NR50
ProteomicsDBi82275
82276 [Q9NR50-2]
82277 [Q9NR50-3]

2D gel databases

REPRODUCTION-2DPAGEiIPI00006504

PTM databases

iPTMnetiQ9NR50
PhosphoSitePlusiQ9NR50
SwissPalmiQ9NR50

Expressioni

Gene expression databases

BgeeiENSG00000070785 Expressed in 220 organ(s), highest expression level in muscle of leg
CleanExiHS_EIF2B3
ExpressionAtlasiQ9NR50 baseline and differential
GenevisibleiQ9NR50 HS

Organism-specific databases

HPAiHPA024213
HPA024218
HPA024219

Interactioni

Subunit structurei

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

GO - Molecular functioni

Protein-protein interaction databases

BioGridi114408, 60 interactors
IntActiQ9NR50, 16 interactors
MINTiQ9NR50
STRINGi9606.ENSP00000353575

Structurei

Secondary structure

1452
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliQ9NR50
SMRiQ9NR50
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Phylogenomic databases

eggNOGiKOG1462 Eukaryota
COG1208 LUCA
GeneTreeiENSGT00510000047486
HOVERGENiHBG051461
InParanoidiQ9NR50
KOiK03241
OMAiKHPRMHI
OrthoDBiEOG091G0BQX
PhylomeDBiQ9NR50
TreeFamiTF101507

Family and domain databases

InterProiView protein in InterPro
IPR005835 NTP_transferase_dom
IPR029044 Nucleotide-diphossugar_trans
PfamiView protein in Pfam
PF00483 NTP_transferase, 1 hit
SUPFAMiSSF53448 SSF53448, 1 hit

Sequences (3+)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket
Note: Experimental confirmation may be lacking for some isoforms.

This entry has 3 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9NR50-1) [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
MEFQAVVMAV GGGSRMTDLT SSIPKPLLPV GNKPLIWYPL NLLERVGFEE
60 70 80 90 100
VIVVTTRDVQ KALCAEFKMK MKPDIVCIPD DADMGTADSL RYIYPKLKTD
110 120 130 140 150
VLVLSCDLIT DVALHEVVDL FRAYDASLAM LMRKGQDSIE PVPGQKGKKK
160 170 180 190 200
AVEQRDFIGV DSTGKRLLFM ANEADLDEEL VIKGSILQKH PRIRFHTGLV
210 220 230 240 250
DAHLYCLKKY IVDFLMENGS ITSIRSELIP YLVRKQFSSA SSQQGQEEKE
260 270 280 290 300
EDLKKKELKS LDIYSFIKEA NTLNLAPYDA CWNACRGDRW EDLSRSQVRC
310 320 330 340 350
YVHIMKEGLC SRVSTLGLYM EANRQVPKLL SALCPEEPPV HSSAQIVSKH
360 370 380 390 400
LVGVDSLIGP ETQIGEKSSI KRSVIGSSCL IKDRVTITNC LLMNSVTVEE
410 420 430 440 450
GSNIQGSVIC NNAVIEKGAD IKDCLIGSGQ RIEAKAKRVN EVIVGNDQLM

EI
Length:452
Mass (Da):50,240
Last modified:October 1, 2000 - v1
Checksum:i6F73137F59E52773
GO
Isoform 2 (identifier: Q9NR50-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     402-452: SNIQGSVICNNAVIEKGADIKDCLIGSGQRIEAKAKRVNEVIVGNDQLMEI → YVSPCTHLRQR

Show »
Length:412
Mass (Da):46,145
Checksum:i2D3F23DE8D1C6C5A
GO
Isoform 3 (identifier: Q9NR50-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     402-452: Missing.

Show »
Length:401
Mass (Da):44,803
Checksum:i3D643091793D31BF
GO

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A0D9SEN0A0A0D9SEN0_HUMAN
Translation initiation factor eIF-2...
EIF2B3
128Annotation score:
H0Y580H0Y580_HUMAN
Translation initiation factor eIF-2...
EIF2B3
222Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti356S → G in BAB14770 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06847027L → Q in VWM. 1 PublicationCorresponds to variant dbSNP:rs397514647EnsemblClinVar.1
Natural variantiVAR_06847147G → E in VWM. 1 Publication1
Natural variantiVAR_01540987A → V in VWM. 1 PublicationCorresponds to variant dbSNP:rs113994022EnsemblClinVar.1
Natural variantiVAR_015410225R → Q in VWM. 2 PublicationsCorresponds to variant dbSNP:rs113994024EnsemblClinVar.1
Natural variantiVAR_048920288D → E. Corresponds to variant dbSNP:rs3738247Ensembl.1
Natural variantiVAR_068472346I → T in VWM. 1 PublicationCorresponds to variant dbSNP:rs119474039EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_001436402 – 452SNIQG…QLMEI → YVSPCTHLRQR in isoform 2. 1 PublicationAdd BLAST51
Alternative sequenceiVSP_001435402 – 452Missing in isoform 3. 1 PublicationAdd BLAST51

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF257077 mRNA Translation: AAF91351.1
AK024006 mRNA Translation: BAB14770.1
AK314668 mRNA Translation: BAG37225.1
AL834288 mRNA Translation: CAD38962.1
AL136380 Genomic DNA No translation available.
CH471059 Genomic DNA Translation: EAX07013.1
CH471059 Genomic DNA Translation: EAX07015.1
BC018728 mRNA Translation: AAH18728.1
CCDSiCCDS517.1 [Q9NR50-1]
CCDS53313.1 [Q9NR50-2]
CCDS72775.1 [Q9NR50-3]
RefSeqiNP_001160060.1, NM_001166588.2 [Q9NR50-2]
NP_001248347.1, NM_001261418.1 [Q9NR50-3]
NP_065098.1, NM_020365.4 [Q9NR50-1]
UniGeneiHs.533549

Genome annotation databases

EnsembliENST00000360403; ENSP00000353575; ENSG00000070785 [Q9NR50-1]
ENST00000372183; ENSP00000361257; ENSG00000070785 [Q9NR50-2]
ENST00000620860; ENSP00000483996; ENSG00000070785 [Q9NR50-3]
GeneIDi8891
KEGGihsa:8891
UCSCiuc001cmt.4 human [Q9NR50-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Web resourcesi

Mendelian genes eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa (EIF2B3)

Leiden Open Variation Database (LOVD)

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF257077 mRNA Translation: AAF91351.1
AK024006 mRNA Translation: BAB14770.1
AK314668 mRNA Translation: BAG37225.1
AL834288 mRNA Translation: CAD38962.1
AL136380 Genomic DNA No translation available.
CH471059 Genomic DNA Translation: EAX07013.1
CH471059 Genomic DNA Translation: EAX07015.1
BC018728 mRNA Translation: AAH18728.1
CCDSiCCDS517.1 [Q9NR50-1]
CCDS53313.1 [Q9NR50-2]
CCDS72775.1 [Q9NR50-3]
RefSeqiNP_001160060.1, NM_001166588.2 [Q9NR50-2]
NP_001248347.1, NM_001261418.1 [Q9NR50-3]
NP_065098.1, NM_020365.4 [Q9NR50-1]
UniGeneiHs.533549

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
6CAJelectron microscopy2.80I/J1-452[»]
6EZOelectron microscopy4.10E/F1-452[»]
ProteinModelPortaliQ9NR50
SMRiQ9NR50
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi114408, 60 interactors
IntActiQ9NR50, 16 interactors
MINTiQ9NR50
STRINGi9606.ENSP00000353575

PTM databases

iPTMnetiQ9NR50
PhosphoSitePlusiQ9NR50
SwissPalmiQ9NR50

Polymorphism and mutation databases

BioMutaiEIF2B3
DMDMi18203317

2D gel databases

REPRODUCTION-2DPAGEiIPI00006504

Proteomic databases

EPDiQ9NR50
MaxQBiQ9NR50
PaxDbiQ9NR50
PeptideAtlasiQ9NR50
PRIDEiQ9NR50
ProteomicsDBi82275
82276 [Q9NR50-2]
82277 [Q9NR50-3]

Protocols and materials databases

DNASUi8891
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000360403; ENSP00000353575; ENSG00000070785 [Q9NR50-1]
ENST00000372183; ENSP00000361257; ENSG00000070785 [Q9NR50-2]
ENST00000620860; ENSP00000483996; ENSG00000070785 [Q9NR50-3]
GeneIDi8891
KEGGihsa:8891
UCSCiuc001cmt.4 human [Q9NR50-1]

Organism-specific databases

CTDi8891
DisGeNETi8891
EuPathDBiHostDB:ENSG00000070785.16
GeneCardsiEIF2B3
GeneReviewsiEIF2B3
HGNCiHGNC:3259 EIF2B3
HPAiHPA024213
HPA024218
HPA024219
MalaCardsiEIF2B3
MIMi603896 phenotype
606273 gene
neXtProtiNX_Q9NR50
OpenTargetsiENSG00000070785
Orphaneti157713 Congenital or early infantile CACH syndrome
99854 Cree leukoencephalopathy
157719 Juvenile or adult CACH syndrome
157716 Late infantile CACH syndrome
99853 Ovarioleukodystrophy
PharmGKBiPA27690
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1462 Eukaryota
COG1208 LUCA
GeneTreeiENSGT00510000047486
HOVERGENiHBG051461
InParanoidiQ9NR50
KOiK03241
OMAiKHPRMHI
OrthoDBiEOG091G0BQX
PhylomeDBiQ9NR50
TreeFamiTF101507

Enzyme and pathway databases

ReactomeiR-HSA-72731 Recycling of eIF2:GDP
SIGNORiQ9NR50

Miscellaneous databases

ChiTaRSiEIF2B3 human
GeneWikiiEIF2B3
GenomeRNAii8891
PROiPR:Q9NR50
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000070785 Expressed in 220 organ(s), highest expression level in muscle of leg
CleanExiHS_EIF2B3
ExpressionAtlasiQ9NR50 baseline and differential
GenevisibleiQ9NR50 HS

Family and domain databases

InterProiView protein in InterPro
IPR005835 NTP_transferase_dom
IPR029044 Nucleotide-diphossugar_trans
PfamiView protein in Pfam
PF00483 NTP_transferase, 1 hit
SUPFAMiSSF53448 SSF53448, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiEI2BG_HUMAN
AccessioniPrimary (citable) accession number: Q9NR50
Secondary accession number(s): B2RBH8
, D3DPZ2, Q5QP89, Q5QP90, Q8NDB5, Q8WV57, Q9H850
Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 26, 2001
Last sequence update: October 1, 2000
Last modified: November 7, 2018
This is version 161 of the entry and version 1 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, Direct protein sequencing, Reference proteome

Documents

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

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