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Protein

Translation initiation factor eIF-2B subunit alpha

Gene

EIF2B1

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

  • identical protein binding Source: IntAct
  • translation initiation factor activity Source: UniProtKB-KW

GO - Biological processi

  • 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
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

EuPathDBiHostDB:ENSG00000111361.12
HGNCiHGNC:3257 EIF2B1
MIMi606686 gene
neXtProtiNX_Q14232

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)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 PublicationCorresponds to variant dbSNP:rs863225048EnsemblClinVar.1
Natural variantiVAR_015404208N → Y in VWM. 1 PublicationCorresponds to variant dbSNP:rs113994007EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Leukodystrophy

Organism-specific databases

DisGeNETi1967
GeneReviewsiEIF2B1
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
ProteomicsDBi59934

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

Show more details

GO - Molecular functioni

  • identical protein binding Source: IntAct

Protein-protein interaction databases

BioGridi108286, 73 interactors
IntActiQ14232, 54 interactors
MINTiQ14232
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

ProteinModelPortaliQ14232
SMRiQ14232
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ14232

Family & Domainsi

Sequence similaritiesi

Phylogenomic databases

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

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 (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 PublicationCorresponds to variant dbSNP:rs863225048EnsemblClinVar.1
Natural variantiVAR_015404208N → Y in VWM. 1 PublicationCorresponds to variant dbSNP:rs113994007EnsemblClinVar.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

Similar proteinsi

Entry informationi

Entry nameiEI2BA_HUMAN
AccessioniPrimary (citable) accession number: Q14232
Secondary accession number(s): A6NLY9, B4DGX0, Q3SXP4
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: November 1, 1997
Last modified: July 18, 2018
This is version 157 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, 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

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