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EIF2AK1 eukaryotic translation initiation factor 2 alpha kinase 1 [ Homo sapiens (human) ]

Gene ID: 27102, updated on 20-Jun-2020

Summary

Official Symbol
EIF2AK1provided by HGNC
Official Full Name
eukaryotic translation initiation factor 2 alpha kinase 1provided by HGNC
Primary source
HGNC:HGNC:24921
See related
Ensembl:ENSG00000086232 MIM:613635
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
HCR; HRI; hHRI; LEMSPAD
Summary
The protein encoded by this gene acts at the level of translation initiation to downregulate protein synthesis in response to stress. The encoded protein is a kinase that can be inactivated by hemin. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]
Expression
Ubiquitous expression in bone marrow (RPKM 37.9), placenta (RPKM 32.2) and 25 other tissues See more
Orthologs

Genomic context

See EIF2AK1 in Genome Data Viewer
Location:
7p22.1
Exon count:
15
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (6022247..6059229, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (6061878..6098860, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene PMS1 homolog 2, mismatch repair system component Neighboring gene small nucleolar RNA, H/ACA box 80D Neighboring gene aminoacyl tRNA synthetase complex interacting multifunctional protein 2 Neighboring gene ankyrin repeat domain 61 Neighboring gene RNA, 7SL, cytoplasmic 851, pseudogene Neighboring gene RNA, U6 small nuclear 218, pseudogene Neighboring gene ubiquitin specific peptidase 42 Neighboring gene cytohesin 3

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA1369

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
eukaryotic translation initiation factor 2alpha kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
heme binding ISS
Inferred from Sequence or Structural Similarity
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein homodimerization activity ISS
Inferred from Sequence or Structural Similarity
more info
 
protein kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
acute inflammatory response IEA
Inferred from Electronic Annotation
more info
 
iron ion homeostasis IEA
Inferred from Electronic Annotation
more info
 
macrophage differentiation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of cell proliferation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of hemoglobin biosynthetic process ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of translational initiation by iron NAS
Non-traceable Author Statement
more info
PubMed 
phagocytosis IEA
Inferred from Electronic Annotation
more info
 
protein autophosphorylation ISS
Inferred from Sequence or Structural Similarity
more info
 
protoporphyrinogen IX metabolic process IEA
Inferred from Electronic Annotation
more info
 
regulation of eIF2 alpha phosphorylation by heme IEA
Inferred from Electronic Annotation
more info
 
regulation of translational initiation by eIF2 alpha phosphorylation IEA
Inferred from Electronic Annotation
more info
 
response to iron ion starvation IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
eukaryotic translation initiation factor 2-alpha kinase 1
Names
heme regulated initiation factor 2 alpha kinase
heme sensitive initiation factor 2a kinase
heme-controlled repressor
heme-regulated eukaryotic initiation factor eIF-2-alpha kinase
heme-regulated inhibitor
heme-regulated repressor
hemin-sensitive initiation factor 2-alpha kinase
NP_001127807.1
NP_055228.2
XP_024302486.1

NCBI Reference Sequences (RefSeq)

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)

  1. NM_001134335.1NP_001127807.1  eukaryotic translation initiation factor 2-alpha kinase 1 isoform b

    See identical proteins and their annotated locations for NP_001127807.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site at the end of an exon compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is 1 aa shorter compared to isoform a.
    Source sequence(s)
    AC005995, AL136563, DC341983
    UniProtKB/Swiss-Prot
    Q9BQI3
    Conserved Domains (2) summary
    smart00220
    Location:167582
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    cd14049
    Location:160580
    STKc_EIF2AK1_HRI; Catalytic domain of the Serine/Threonine kinase, eukaryotic translation Initiation Factor 2-Alpha Kinase 2 or Heme-Regulated Inhibitor kinase
  2. NM_014413.4NP_055228.2  eukaryotic translation initiation factor 2-alpha kinase 1 isoform a

    See identical proteins and their annotated locations for NP_055228.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
    Source sequence(s)
    AC005995, BC006524, DC341983
    Consensus CDS
    CCDS5345.1
    UniProtKB/Swiss-Prot
    Q9BQI3
    UniProtKB/TrEMBL
    A0A024QZU1
    Related
    ENSP00000199389.6, ENST00000199389.11
    Conserved Domains (2) summary
    smart00220
    Location:167583
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    cd14049
    Location:160581
    STKc_EIF2AK1_HRI; Catalytic domain of the Serine/Threonine kinase, eukaryotic translation Initiation Factor 2-Alpha Kinase 2 or Heme-Regulated Inhibitor kinase

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

    Range
    6022247..6059229 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024446718.1XP_024302486.1  eukaryotic translation initiation factor 2-alpha kinase 1 isoform X1

    Conserved Domains (1) summary
    cd14049
    Location:1373
    STKc_EIF2AK1_HRI; Catalytic domain of the Serine/Threonine kinase, eukaryotic translation Initiation Factor 2-Alpha Kinase 2 or Heme-Regulated Inhibitor kinase
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