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

    Gene ID: 27102, updated on 6-Jun-2024

    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; AllianceGenome:HGNC:24921
    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
    NEW
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    Genomic context

    See EIF2AK1 in Genome Data Viewer
    Location:
    7p22.1
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (6022247..6059175, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (6140020..6176976, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (6061878..6098806, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene PMS1 homolog 2, mismatch repair system component Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:6047103-6047794 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25614 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17931 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25615 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:6065935-6066435 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 ATAC-STARR-seq lymphoblastoid silent region 17932 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17933 Neighboring gene RNA, 7SL, cytoplasmic 851, pseudogene Neighboring gene RNA, U6 small nuclear 218, pseudogene Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr7:6116071-6116985 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr7:6116986-6117899 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17934 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:6141129-6141352 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:6143513-6144112 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17935 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17936 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17937 Neighboring gene ubiquitin specific peptidase 42 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:6189130-6190329 Neighboring gene cytohesin 3 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:6262905-6263525 Neighboring gene Sharpr-MPRA regulatory region 15593 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25619 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25620 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:6310870-6311592 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:6311593-6312314

    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

    Clone Names

    • KIAA1369

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables eukaryotic translation initiation factor 2alpha kinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables eukaryotic translation initiation factor 2alpha kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables heme binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein homodimerization activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables protein serine kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in HRI-mediated signaling IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in acute inflammatory response IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in establishment of localization in cell IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in integrated stress response signaling IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in macrophage differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in multicellular organismal-level iron ion homeostasis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of cell population proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of hemoglobin biosynthetic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of translational initiation by iron NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in phagocytosis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of mitophagy IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein autophosphorylation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in protoporphyrinogen IX metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of eIF2 alpha phosphorylation by heme IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of translational initiation by eIF2 alpha phosphorylation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in response to iron ion starvation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    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-controlled repressor
    hemin-sensitive initiation factor 2-alpha kinase
    NP_001127807.1
    NP_055228.2
    XP_047276156.1
    XP_054213880.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001134335.2NP_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
      A8K2R2, Q549K6, Q8NBW3, Q9BQI3, Q9HC02, Q9NYE0, Q9P0V6, Q9P1J5, Q9P2H8, Q9UHG4
      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: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      6022247..6059175 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047420200.1XP_047276156.1  eukaryotic translation initiation factor 2-alpha kinase 1 isoform X1

      UniProtKB/TrEMBL
      Q75MR0

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      6140020..6176976 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054357905.1XP_054213880.1  eukaryotic translation initiation factor 2-alpha kinase 1 isoform X1

      UniProtKB/TrEMBL
      Q75MR0