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Protein

Translation initiation factor eIF-2B subunit gamma

Gene

EIF2B3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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

GO - Molecular functioni

GO - Biological processi

  • cellular response to stimulus Source: UniProtKB
  • negative regulation of translational initiation in response to stress Source: UniProtKB
  • oligodendrocyte development Source: UniProtKB
  • response to glucose Source: UniProtKB
  • response to heat Source: UniProtKB
  • response to peptide hormone Source: UniProtKB
  • translational initiation Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Initiation factor

Keywords - Biological processi

Protein 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

HGNCiHGNC:3259. EIF2B3.

Subcellular locationi

GO - Cellular componenti

  • cytoplasm Source: UniProtKB
  • cytosol Source: Reactome
  • eukaryotic translation initiation factor 2B complex Source: UniProtKB
Complete GO annotation...

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti27 – 271L → Q in VWM. 1 Publication
Corresponds to variant rs397514647 [ dbSNP | Ensembl ].
VAR_068470
Natural varianti47 – 471G → E in VWM. 1 Publication
VAR_068471
Natural varianti87 – 871A → V in VWM. 1 Publication
Corresponds to variant rs113994022 [ dbSNP | Ensembl ].
VAR_015409
Natural varianti225 – 2251R → Q in VWM. 2 Publications
Corresponds to variant rs113994024 [ dbSNP | Ensembl ].
VAR_015410
Natural varianti346 – 3461I → T in VWM. 1 Publication
Corresponds to variant rs119474039 [ dbSNP | Ensembl ].
VAR_068472

Keywords - Diseasei

Disease mutation, Leukodystrophy

Organism-specific databases

MalaCardsiEIF2B3.
MIMi603896. phenotype.
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)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 452452Translation initiation factor eIF-2B subunit gammaPRO_0000156079Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei1 – 11N-acetylmethionineCombined sources1 Publication
Modified residuei260 – 2601PhosphoserineCombined sources

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiQ9NR50.
MaxQBiQ9NR50.
PaxDbiQ9NR50.
PeptideAtlasiQ9NR50.
PRIDEiQ9NR50.

2D gel databases

REPRODUCTION-2DPAGEIPI00006504.

PTM databases

iPTMnetiQ9NR50.
PhosphoSiteiQ9NR50.
SwissPalmiQ9NR50.

Expressioni

Gene expression databases

BgeeiENSG00000070785.
CleanExiHS_EIF2B3.
ExpressionAtlasiQ9NR50. baseline and differential.
GenevisibleiQ9NR50. HS.

Organism-specific databases

HPAiCAB032233.
HPA024213.
HPA024218.
HPA024219.

Interactioni

Subunit structurei

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

Protein-protein interaction databases

BioGridi114408. 56 interactions.
IntActiQ9NR50. 10 interactions.
MINTiMINT-3072682.
STRINGi9606.ENSP00000353575.

Structurei

3D structure databases

ProteinModelPortaliQ9NR50.
SMRiQ9NR50. Positions 4-53, 334-405.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Phylogenomic databases

eggNOGiKOG1462. Eukaryota.
COG1208. LUCA.
GeneTreeiENSGT00510000047486.
HOVERGENiHBG051461.
InParanoidiQ9NR50.
KOiK03241.
OMAiEEGCNIQ.
OrthoDBiEOG091G0BQX.
PhylomeDBiQ9NR50.
TreeFamiTF101507.

Family and domain databases

Gene3Di3.90.550.10. 2 hits.
InterProiIPR005835. NTP_transferase_dom.
IPR029044. Nucleotide-diphossugar_trans.
[Graphical view]
PfamiPF00483. NTP_transferase. 1 hit.
[Graphical view]
SUPFAMiSSF53448. SSF53448. 4 hits.

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.
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

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti356 – 3561S → G in BAB14770 (PubMed:14702039).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti27 – 271L → Q in VWM. 1 Publication
Corresponds to variant rs397514647 [ dbSNP | Ensembl ].
VAR_068470
Natural varianti47 – 471G → E in VWM. 1 Publication
VAR_068471
Natural varianti87 – 871A → V in VWM. 1 Publication
Corresponds to variant rs113994022 [ dbSNP | Ensembl ].
VAR_015409
Natural varianti225 – 2251R → Q in VWM. 2 Publications
Corresponds to variant rs113994024 [ dbSNP | Ensembl ].
VAR_015410
Natural varianti288 – 2881D → E.
Corresponds to variant rs3738247 [ dbSNP | Ensembl ].
VAR_048920
Natural varianti346 – 3461I → T in VWM. 1 Publication
Corresponds to variant rs119474039 [ dbSNP | Ensembl ].
VAR_068472

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei402 – 45251SNIQG…QLMEI → YVSPCTHLRQR in isoform 2. 1 PublicationVSP_001436Add
BLAST
Alternative sequencei402 – 45251Missing in isoform 3. 1 PublicationVSP_001435Add
BLAST

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. Translation: CAI23131.1.
AL136380 Genomic DNA. Translation: CAI23132.1.
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

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. Translation: CAI23131.1.
AL136380 Genomic DNA. Translation: CAI23132.1.
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

ProteinModelPortaliQ9NR50.
SMRiQ9NR50. Positions 4-53, 334-405.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi114408. 56 interactions.
IntActiQ9NR50. 10 interactions.
MINTiMINT-3072682.
STRINGi9606.ENSP00000353575.

PTM databases

iPTMnetiQ9NR50.
PhosphoSiteiQ9NR50.
SwissPalmiQ9NR50.

Polymorphism and mutation databases

BioMutaiEIF2B3.
DMDMi18203317.

2D gel databases

REPRODUCTION-2DPAGEIPI00006504.

Proteomic databases

EPDiQ9NR50.
MaxQBiQ9NR50.
PaxDbiQ9NR50.
PeptideAtlasiQ9NR50.
PRIDEiQ9NR50.

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.
GeneCardsiEIF2B3.
GeneReviewsiEIF2B3.
HGNCiHGNC:3259. EIF2B3.
HPAiCAB032233.
HPA024213.
HPA024218.
HPA024219.
MalaCardsiEIF2B3.
MIMi603896. phenotype.
606273. gene.
neXtProtiNX_Q9NR50.
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.
OMAiEEGCNIQ.
OrthoDBiEOG091G0BQX.
PhylomeDBiQ9NR50.
TreeFamiTF101507.

Enzyme and pathway databases

ReactomeiR-HSA-72731. Recycling of eIF2:GDP.
SIGNORiQ9NR50.

Miscellaneous databases

GeneWikiiEIF2B3.
GenomeRNAii8891.
PROiQ9NR50.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000070785.
CleanExiHS_EIF2B3.
ExpressionAtlasiQ9NR50. baseline and differential.
GenevisibleiQ9NR50. HS.

Family and domain databases

Gene3Di3.90.550.10. 2 hits.
InterProiIPR005835. NTP_transferase_dom.
IPR029044. Nucleotide-diphossugar_trans.
[Graphical view]
PfamiPF00483. NTP_transferase. 1 hit.
[Graphical view]
SUPFAMiSSF53448. SSF53448. 4 hits.
ProtoNetiSearch...

Entry informationi

Entry nameiEI2BG_HUMAN
AccessioniPrimary (citable) accession number: Q9NR50
Secondary accession number(s): B2RBH8
, D3DPZ2, Q5QP89, Q5QP90, Q8NDB5, Q8WV57, Q9H850
Entry historyi
Integrated into UniProtKB/Swiss-Prot: September 26, 2001
Last sequence update: October 1, 2000
Last modified: September 7, 2016
This is version 143 of the entry and version 1 of the sequence. [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

Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: 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. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.