Seroatlas · Human Serome Atlas

EIF2B1

Translation initiation factor eIF2B subunit alpha

Also known as: EI2BA_HUMAN, EIF-2B, EIF-2Balpha, EIF2B, EIF2BA, EIF2Balpha

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
Q14232
Gene
EIF2B1
Ensembl
ENSG00000111361
Chromosome
12
Canonical length
305 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location
Cytosol

OverviewNCBI Gene

This gene encodes one of five subunits of eukaryotic translation initiation factor 2B (EIF2B), a GTP exchange factor for eukaryotic initiation factor 2 and an essential regulator for protein synthesis. Mutations in this gene and the genes encoding other EIF2B subunits have been associated with leukoencephalopathy with vanishing white matter. [provided by RefSeq, Oct 2009]

Canonical amino-acid sequenceUniProt

305 residues, UniProt reviewed canonical sequence.

>Q14232|EIF2B1
     1  MDDKELIEYF KSQMKEDPDM ASAVAAIRTL LEFLKRDKGE TIQGLRANLT SAIETLCGVD
    61  SSVAVSSGGE LFLRFISLAS LEYSDYSKCK KIMIERGELF LRRISLSRNK IADLCHTFIK
   121  DGATILTHAY SRVVLRVLEA AVAAKKRFSV YVTESQPDLS GKKMAKALCH LNVPVTVVLD
   181  AAVGYIMEKA DLVIVGAEGV VENGGIINKI GTNQMAVCAK AQNKPFYVVA ESFKFVRLFP
   241  LNQQDVPDKF KYKADTLKVA QTGQDLKEEH PWVDYTAPSL ITLLFTDLGV LTPSAVSDEL
   301  IKLYL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against EIF2B1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Intracellular
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.24
Highest tissue expression
48 nTPM

Expression across tissuesHPA

Tissue

  • skin: 48 nTPM
  • skeletal muscle: 41 nTPM
  • tonsil: 40 nTPM
  • lymph node: 38 nTPM
  • cerebellum: 36 nTPM
  • blood vessel: 35 nTPM

Single-cell type

  • oocytes: 138 nCPM
  • cytotrophoblasts: 88 nCPM
  • migrating cytotrophoblasts: 79 nCPM
  • megakaryocytes: 74 nCPM
  • esophageal basal cells: 73 nCPM
  • esophageal suprabasal cells: 72 nCPM

Immune cell

  • eosinophil: 120 nTPM
  • basophil: 113 nTPM
  • intermediate monocyte: 104 nTPM
  • non-classical monocyte: 102 nTPM
  • total PBMC: 101 nTPM
  • myeloid DC: 96 nTPM

Brain region

  • white matter: 44 nTPM
  • pons: 36 nTPM
  • cerebellum: 36 nTPM
  • thalamus: 34 nTPM
  • cerebral cortex: 32 nTPM
  • medulla oblongata: 32 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about EIF2B1.

Disease | AllUniProt

Conditions EIF2B1 is implicated in, by any mechanism.

  • Leukoencephalopathy with vanishing white matter 1 (VWM1) MIM:603896

Disease | GeneticClinVar

37 pathogenic / likely-pathogenic of 319 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
0.98
gnomAD pLI
0
gnomAD missense Z
1.38
DepMap mean gene effect
-0.96
DepMap dependency class
common

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 7% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of EIF2B1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads EIF2B1 as an antibody target. Whether an autoantibody or antibody against EIF2B1 could matter depends on whether native EIF2B1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

EIF2B1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label EIF2B1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/EIF2B1. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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