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Protein

Translation initiation factor eIF-2B subunit alpha

Gene

EIF2B1

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
  • oligodendrocyte development Source: UniProtKB
  • positive regulation of GTPase activity Source: GOC
  • regulation of translational initiation Source: GO_Central
  • 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

BioCyciZFISH:ENSG00000111361-MONOMER.
ReactomeiR-HSA-72731. Recycling of eIF2:GDP.
SIGNORiQ14232.

Names & Taxonomyi

Protein namesi
Recommended name:
Translation initiation factor eIF-2B subunit alpha
Alternative name(s):
eIF-2B GDP-GTP exchange factor subunit alpha
Gene namesi
Name:EIF2B1
Synonyms:EIF2BA
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

HGNCiHGNC:3257. EIF2B1.

Subcellular locationi

GO - Cellular componenti

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

Pathology & Biotechi

Involvement in diseasei

Leukodystrophy with vanishing white matter (VWM)2 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_068450183V → F in VWM. 1 Publication1
Natural variantiVAR_015404208N → Y in VWM. 1 PublicationCorresponds to variant rs113994007dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation, Leukodystrophy

Organism-specific databases

DisGeNETi1967.
MalaCardsiEIF2B1.
MIMi603896. phenotype.
OpenTargetsiENSG00000111361.
Orphaneti157713. Congenital or early infantile CACH syndrome.
99854. Cree leukoencephalopathy.
157719. Juvenile or adult CACH syndrome.
157716. Late infantile CACH syndrome.
99853. Ovarioleukodystrophy.
PharmGKBiPA27688.

Polymorphism and mutation databases

BioMutaiEIF2B1.
DMDMi2494303.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001560551 – 305Translation initiation factor eIF-2B subunit alphaAdd BLAST305

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei35N6-acetyllysineCombined sources1

Keywords - PTMi

Acetylation

Proteomic databases

EPDiQ14232.
MaxQBiQ14232.
PaxDbiQ14232.
PeptideAtlasiQ14232.
PRIDEiQ14232.

PTM databases

iPTMnetiQ14232.
PhosphoSitePlusiQ14232.

Expressioni

Gene expression databases

BgeeiENSG00000111361.
CleanExiHS_EIF2B1.
ExpressionAtlasiQ14232. baseline and differential.
GenevisibleiQ14232. HS.

Organism-specific databases

HPAiCAB034258.
HPA049509.

Interactioni

Subunit structurei

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

Binary interactionsi

WithEntry#Exp.IntActNotes
itself3EBI-491065,EBI-491065
Adra2aQ013382EBI-491065,EBI-491073From a different organism.
Adra2bP305452EBI-491065,EBI-491084From a different organism.
GORASP2Q9H8Y85EBI-491065,EBI-739467
RD3Q7Z3Z25EBI-491065,EBI-10257497
WDYHV1Q96HA85EBI-491065,EBI-741158

Protein-protein interaction databases

BioGridi108286. 61 interactors.
IntActiQ14232. 37 interactors.
MINTiMINT-1412710.
STRINGi9606.ENSP00000416250.

Structurei

Secondary structure

1305
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi3 – 16Combined sources14
Helixi22 – 34Combined sources13
Helixi44 – 54Combined sources11
Turni55 – 59Combined sources5
Helixi63 – 75Combined sources13
Helixi92 – 104Combined sources13
Helixi107 – 115Combined sources9
Helixi116 – 118Combined sources3
Beta strandi123 – 127Combined sources5
Helixi132 – 142Combined sources11
Turni143 – 145Combined sources3
Beta strandi148 – 153Combined sources6
Turni156 – 159Combined sources4
Helixi160 – 169Combined sources10
Turni170 – 172Combined sources3
Beta strandi175 – 178Combined sources4
Helixi180 – 182Combined sources3
Helixi183 – 186Combined sources4
Helixi187 – 189Combined sources3
Beta strandi191 – 196Combined sources6
Beta strandi198 – 200Combined sources3
Beta strandi206 – 209Combined sources4
Helixi212 – 221Combined sources10
Beta strandi226 – 229Combined sources4
Helixi232 – 234Combined sources3
Helixi243 – 245Combined sources3
Helixi248 – 250Combined sources3
Beta strandi272 – 276Combined sources5
Helixi278 – 280Combined sources3
Beta strandi282 – 286Combined sources5
Beta strandi289 – 291Combined sources3
Helixi293 – 295Combined sources3
Helixi296 – 304Combined sources9

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3ECSX-ray2.65A/B/C/D/E/F/G/H1-305[»]
ProteinModelPortaliQ14232.
SMRiQ14232.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ14232.

Family & Domainsi

Sequence similaritiesi

Phylogenomic databases

eggNOGiKOG1466. Eukaryota.
COG1184. LUCA.
GeneTreeiENSGT00550000074853.
HOGENOMiHOG000175731.
HOVERGENiHBG051457.
InParanoidiQ14232.
KOiK03239.
OMAiVRFRVIY.
OrthoDBiEOG091G0CQR.
PhylomeDBiQ14232.
TreeFamiTF101505.

Family and domain databases

InterProiIPR000649. IF-2B-related.
[Graphical view]
PfamiPF01008. IF-2B. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q14232-1) [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
MDDKELIEYF KSQMKEDPDM ASAVAAIRTL LEFLKRDKGE TIQGLRANLT
60 70 80 90 100
SAIETLCGVD SSVAVSSGGE LFLRFISLAS LEYSDYSKCK KIMIERGELF
110 120 130 140 150
LRRISLSRNK IADLCHTFIK DGATILTHAY SRVVLRVLEA AVAAKKRFSV
160 170 180 190 200
YVTESQPDLS GKKMAKALCH LNVPVTVVLD AAVGYIMEKA DLVIVGAEGV
210 220 230 240 250
VENGGIINKI GTNQMAVCAK AQNKPFYVVA ESFKFVRLFP LNQQDVPDKF
260 270 280 290 300
KYKADTLKVA QTGQDLKEEH PWVDYTAPSL ITLLFTDLGV LTPSAVSDEL

IKLYL
Length:305
Mass (Da):33,712
Last modified:November 1, 1997 - v1
Checksum:i91A915FF1B80B780
GO
Isoform 2 (identifier: Q14232-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     162-222: KKMAKALCHL...NQMAVCAKAQ → QVPFCSVMCP...ITEFAAGRSI
     223-305: Missing.

Note: No experimental confirmation available.
Show »
Length:222
Mass (Da):24,618
Checksum:i12DDBDF049B4D351
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_068450183V → F in VWM. 1 Publication1
Natural variantiVAR_015404208N → Y in VWM. 1 PublicationCorresponds to variant rs113994007dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_055469162 – 222KKMAK…CAKAQ → QVPFCSVMCPAIILQSKLRI TVQQDQNQNVPPACQQSALP FIVPFPAFGRKITEFAAGRS I in isoform 2. 1 PublicationAdd BLAST61
Alternative sequenceiVSP_055470223 – 305Missing in isoform 2. 1 PublicationAdd BLAST83

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X95648 mRNA. Translation: CAA64950.1.
AK294815 mRNA. Translation: BAG57931.1.
CR456831 mRNA. Translation: CAG33112.1.
AC117503 Genomic DNA. No translation available.
CH471054 Genomic DNA. Translation: EAW98424.1.
BC103763 mRNA. Translation: AAI03764.1.
BC104188 mRNA. Translation: AAI04189.1.
BC104189 mRNA. Translation: AAI04190.1.
CCDSiCCDS31924.1. [Q14232-1]
RefSeqiNP_001405.1. NM_001414.3. [Q14232-1]
UniGeneiHs.741273.

Genome annotation databases

EnsembliENST00000424014; ENSP00000416250; ENSG00000111361. [Q14232-1]
ENST00000537073; ENSP00000444183; ENSG00000111361. [Q14232-2]
GeneIDi1967.
KEGGihsa:1967.
UCSCiuc001ufm.4. human. [Q14232-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Web resourcesi

Mendelian genes eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa (EIF2B1)

Leiden Open Variation Database (LOVD)

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X95648 mRNA. Translation: CAA64950.1.
AK294815 mRNA. Translation: BAG57931.1.
CR456831 mRNA. Translation: CAG33112.1.
AC117503 Genomic DNA. No translation available.
CH471054 Genomic DNA. Translation: EAW98424.1.
BC103763 mRNA. Translation: AAI03764.1.
BC104188 mRNA. Translation: AAI04189.1.
BC104189 mRNA. Translation: AAI04190.1.
CCDSiCCDS31924.1. [Q14232-1]
RefSeqiNP_001405.1. NM_001414.3. [Q14232-1]
UniGeneiHs.741273.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3ECSX-ray2.65A/B/C/D/E/F/G/H1-305[»]
ProteinModelPortaliQ14232.
SMRiQ14232.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108286. 61 interactors.
IntActiQ14232. 37 interactors.
MINTiMINT-1412710.
STRINGi9606.ENSP00000416250.

PTM databases

iPTMnetiQ14232.
PhosphoSitePlusiQ14232.

Polymorphism and mutation databases

BioMutaiEIF2B1.
DMDMi2494303.

Proteomic databases

EPDiQ14232.
MaxQBiQ14232.
PaxDbiQ14232.
PeptideAtlasiQ14232.
PRIDEiQ14232.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000424014; ENSP00000416250; ENSG00000111361. [Q14232-1]
ENST00000537073; ENSP00000444183; ENSG00000111361. [Q14232-2]
GeneIDi1967.
KEGGihsa:1967.
UCSCiuc001ufm.4. human. [Q14232-1]

Organism-specific databases

CTDi1967.
DisGeNETi1967.
GeneCardsiEIF2B1.
GeneReviewsiEIF2B1.
HGNCiHGNC:3257. EIF2B1.
HPAiCAB034258.
HPA049509.
MalaCardsiEIF2B1.
MIMi603896. phenotype.
606686. gene.
neXtProtiNX_Q14232.
OpenTargetsiENSG00000111361.
Orphaneti157713. Congenital or early infantile CACH syndrome.
99854. Cree leukoencephalopathy.
157719. Juvenile or adult CACH syndrome.
157716. Late infantile CACH syndrome.
99853. Ovarioleukodystrophy.
PharmGKBiPA27688.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1466. Eukaryota.
COG1184. LUCA.
GeneTreeiENSGT00550000074853.
HOGENOMiHOG000175731.
HOVERGENiHBG051457.
InParanoidiQ14232.
KOiK03239.
OMAiVRFRVIY.
OrthoDBiEOG091G0CQR.
PhylomeDBiQ14232.
TreeFamiTF101505.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000111361-MONOMER.
ReactomeiR-HSA-72731. Recycling of eIF2:GDP.
SIGNORiQ14232.

Miscellaneous databases

EvolutionaryTraceiQ14232.
GeneWikiiEIF2B1.
GenomeRNAii1967.
PROiQ14232.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000111361.
CleanExiHS_EIF2B1.
ExpressionAtlasiQ14232. baseline and differential.
GenevisibleiQ14232. HS.

Family and domain databases

InterProiIPR000649. IF-2B-related.
[Graphical view]
PfamiPF01008. IF-2B. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiEI2BA_HUMAN
AccessioniPrimary (citable) accession number: Q14232
Secondary accession number(s): A6NLY9, B4DGX0, Q3SXP4
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: November 1, 1997
Last modified: November 30, 2016
This is version 144 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 12
    Human chromosome 12: 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

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.