EIF2S1 eukaryotic translation initiation factor 2 subunit alpha [Homo sapiens (human)] - Gene

Summary

Official Symbol: EIF2S1provided by HGNC
Official Full Name: eukaryotic translation initiation factor 2 subunit alphaprovided by HGNC
Primary source: HGNC:HGNC:3265
See related: Ensembl:ENSG00000134001 MIM:603907; AllianceGenome:HGNC:3265
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: EIF2; EIF-2; EIF2A; EIF-2A; EIF-2alpha
Summary: The translation initiation factor EIF2 catalyzes the first regulated step of protein synthesis initiation, promoting the binding of the initiator tRNA to 40S ribosomal subunits. Binding occurs as a ternary complex of methionyl-tRNA, EIF2, and GTP. EIF2 is composed of 3 nonidentical subunits, the 36-kD EIF2-alpha subunit (EIF2S1), the 38-kD EIF2-beta subunit (EIF2S2; MIM 603908), and the 52-kD EIF2-gamma subunit (EIF2S3; MIM 300161). The rate of formation of the ternary complex is modulated by the phosphorylation state of EIF2-alpha (Ernst et al., 1987 [PubMed 2948954]).[supplied by OMIM, Feb 2010]
Annotation information: Note: EIF2A (Gene ID: 83939) and EIF2S1 (Gene ID: 1965) share the EIF2A symbol/alias in common. EIF2A is a widely used alternative name for eukaryotic translation initiation factor 2 subunit alpha (EIF2S1), which can be confused with the official symbol for eukaryotic translation initiation factor 2A (EIF2A). [05 Jul 2018]
Expression: Ubiquitous expression in testis (RPKM 19.0), esophagus (RPKM 15.6) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 14q23.3

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	14	NC_000014.9 (67360328..67386516)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	14	NC_060938.1 (61567453..61593639)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	14	NC_000014.8 (67827045..67853233)

Chromosome 14 - NC_000014.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Unfolded protein response markers Grp78 and eIF2alpha are upregulated with increasing alpha-synuclein levels in Lewy body disease.
Title: Unfolded protein response markers Grp78 and eIF2alpha are upregulated with increasing alpha-synuclein levels in Lewy body disease.
MiR-3074-5p Regulates Trophoblasts Function via EIF2S1/GDF15 Pathway in Recurrent Miscarriage.
Title: MiR-3074-5p Regulates Trophoblasts Function via EIF2S1/GDF15 Pathway in Recurrent Miscarriage.
CHIP suppresses the proliferation and migration of A549 cells by mediating the ubiquitination of eIF2alpha and upregulation of tumor suppressor RBM5.
Title: CHIP suppresses the proliferation and migration of A549 cells by mediating the ubiquitination of eIF2α and upregulation of tumor suppressor RBM5.
Activation of BZW1 by CEBPB in macrophages promotes eIF2alpha phosphorylation-mediated metabolic reprogramming and endoplasmic reticulum stress in MRL/lpr lupus-prone mice.
Title: Activation of BZW1 by CEBPB in macrophages promotes eIF2α phosphorylation-mediated metabolic reprogramming and endoplasmic reticulum stress in MRL/lpr lupus-prone mice.
C9orf72 regulates the unfolded protein response and stress granule formation by interacting with eIF2alpha.
Title: C9orf72 regulates the unfolded protein response and stress granule formation by interacting with eIF2α.
Helicobacter pylori Targets in AGS Human Gastric Adenocarcinoma: In Situ Proteomic Profiling and Systematic Analysis.
Title: Helicobacter pylori Targets in AGS Human Gastric Adenocarcinoma: In Situ Proteomic Profiling and Systematic Analysis.
PERK-eIF2alpha-ERK1/2 axis drives mesenchymal-endothelial transition of cancer-associated fibroblasts in pancreatic cancer.
Title: PERK-eIF2α-ERK1/2 axis drives mesenchymal-endothelial transition of cancer-associated fibroblasts in pancreatic cancer.
Higher-order phosphatase-substrate contacts terminate the integrated stress response.
Title: Higher-order phosphatase-substrate contacts terminate the integrated stress response.
Activation of the eIF2alpha/ATF4 axis drives triple-negative breast cancer radioresistance by promoting glutathione biosynthesis.
Title: Activation of the eIF2α/ATF4 axis drives triple-negative breast cancer radioresistance by promoting glutathione biosynthesis.
Resveratrol synergizes with cisplatin in antineoplastic effects against AGS gastric cancer cells by inducing endoplasmic reticulum stressmediated apoptosis and G2/M phase arrest.
Title: Resveratrol synergizes with cisplatin in antineoplastic effects against AGS gastric cancer cells by inducing endoplasmic reticulum stress‑mediated apoptosis and G2/M phase arrest.

Submit: New GeneRIF Correction See all GeneRIFs (161)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Pr55(Gag)	gag	HIV-1 Gag co-localizes with eIF-2alpha in human cells	PubMed
Tat	tat	Exposure of human umbilical vein endothelial cells to HIV-1 Tat causes broad activation of the unfolded-protein response in ER with phosphorylation of PERK, eIF2alpha, and JNK and induction of Grp78/BiP	PubMed
	tat	Neurons exposed to HIV-1 Tat induces calcium loss from the endoplasmic reticulum via ryanodine receptor (RyR) and increases the phosphorylated levels of PERK, eIF2a, and XBP1	PubMed
	tat	HIV-1 Tat competes with eukaryotic initiation factor 2, a well characterized substrate of PKR, for phosphorylation by activated PKR	PubMed
	tat	Eukaryotic translation initiation factor 2 (eIF2) recognizes and binds the TAR secondary structure in HIV-1 RNA, suggesting a role in Tat transactivation of the viral LTR promoter	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D14S1214 (e-PCR)
- UniSTS:53562

GDB:437525 (e-PCR)
- UniSTS:157245

RH91349 (e-PCR)
- UniSTS:92539

HUM0C12G05 (e-PCR)
- UniSTS:19080

RH68960 (e-PCR)
- UniSTS:48784

D14S1305 (e-PCR)
- UniSTS:35736

WI-19765 (e-PCR)
- UniSTS:79264

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	HDA more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables ribosome binding	IBA Inferred from Biological aspect of Ancestor more info
enables ribosome binding	IDA Inferred from Direct Assay more info	PubMed
enables translation initiation factor activity	IBA Inferred from Biological aspect of Ancestor more info
enables translation initiation factor activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in HRI-mediated signaling	IDA Inferred from Direct Assay more info	PubMed
involved_in PERK-mediated unfolded protein response	IDA Inferred from Direct Assay more info	PubMed
involved_in PERK-mediated unfolded protein response	NAS Non-traceable Author Statement more info	PubMed
involved_in cellular response to UV	ISS Inferred from Sequence or Structural Similarity more info
involved_in cellular response to amino acid starvation	ISS Inferred from Sequence or Structural Similarity more info
involved_in cellular response to heat	IEA Inferred from Electronic Annotation more info
involved_in cellular response to oxidative stress	ISS Inferred from Sequence or Structural Similarity more info
involved_in mitophagy	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of translational initiation in response to stress	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of type B pancreatic cell apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in regulation of translation in response to endoplasmic reticulum stress	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of translational initiation in response to stress	IEA Inferred from Electronic Annotation more info
involved_in response to endoplasmic reticulum stress	IDA Inferred from Direct Assay more info	PubMed
involved_in response to endoplasmic reticulum stress	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to endoplasmic reticulum stress	ISS Inferred from Sequence or Structural Similarity more info
involved_in response to kainic acid	IEA Inferred from Electronic Annotation more info
involved_in response to manganese-induced endoplasmic reticulum stress	IEA Inferred from Electronic Annotation more info
involved_in stress granule assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in translational initiation	IBA Inferred from Biological aspect of Ancestor more info
involved_in translational initiation	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in cytoplasmic stress granule	ISS Inferred from Sequence or Structural Similarity more info
located_in cytosol	IDA Inferred from Direct Assay more info
located_in cytosol	TAS Traceable Author Statement more info
part_of eukaryotic 48S preinitiation complex	IBA Inferred from Biological aspect of Ancestor more info
part_of eukaryotic translation initiation factor 2 complex	IBA Inferred from Biological aspect of Ancestor more info
part_of eukaryotic translation initiation factor 2 complex	IDA Inferred from Direct Assay more info	PubMed
part_of eukaryotic translation initiation factor 2 complex	IPI Inferred from Physical Interaction more info	PubMed
located_in extracellular exosome	HDA more info	PubMed
located_in glial limiting end-foot	IEA Inferred from Electronic Annotation more info
located_in membrane	HDA more info	PubMed
is_active_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	IEA Inferred from Electronic Annotation more info
located_in synapse	IEA Inferred from Electronic Annotation more info
part_of translation initiation ternary complex	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: eukaryotic translation initiation factor 2 subunit 1

Names: eIF-2-alpha; eIF2-alpha; eukaryotic translation initiation factor 2, subunit 1 alpha, 35kDa

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_004094.5 → NP_004085.1 eukaryotic translation initiation factor 2 subunit 1

See identical proteins and their annotated locations for NP_004085.1

Status: VALIDATED

Source sequence(s)

AL139785, BC002513

Consensus CDS

CCDS9781.1

UniProtKB/Swiss-Prot

P05198

UniProtKB/TrEMBL

G3V4T5, Q53XC0

Related

ENSP00000256383.4, ENST00000256383.11

Conserved Domains (1) summary

PTZ00248
Location:4 → 315

PTZ00248; eukaryotic translation initiation factor 2 subunit 1; Provisional