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EIF2AK1 Gene

protein-coding   GIFtS: 64
GCID: GC07M006061

Eukaryotic Translation Initiation Factor 2-Alpha Kinase...

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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Eukaryotic Translation Initiation Factor 2-Alpha Kinase 11 2     HCR2 3
HRI2 3 5     EC 2.7.11.13 8
Heme Regulated Initiation Factor 2 Alpha Kinase1 2     Heme Sensitive Initiation Factor 2a Kinase2
Heme-Controlled Repressor2 3     Heme-Regulated Initiation Factor 2-Alpha Kinase2
Heme-Regulated Eukaryotic Initiation Factor EIF-2-Alpha Kinase2 3     Heme-Regulated Repressor2
Heme-Regulated Inhibitor2 3     KIAA13693
Hemin-Sensitive Initiation Factor 2-Alpha Kinase2 3     EC 2.7.118

External Ids:    HGNC: 249211   Entrez Gene: 271022   Ensembl: ENSG000000862327   OMIM: 6136355   UniProtKB: Q9BQI33   

Export aliases for EIF2AK1 gene to outside databases

Previous GC identifers: GC07M005836 GC07M006028 GC07M006029


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for EIF2AK1 Gene:
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)

GeneCards Summary for EIF2AK1 Gene:
EIF2AK1 (eukaryotic translation initiation factor 2-alpha kinase 1) is a protein-coding gene. GO annotations related to this gene include protein homodimerization activity and eukaryotic translation initiation factor 2alpha kinase activity. An important paralog of this gene is EIF2AK4.

UniProtKB/Swiss-Prot: E2AK1_HUMAN, Q9BQI3
Function: Inhibits protein synthesis at the translation initiation level, in response to various stress
conditions, including oxidative stress, heme deficiency, osmotic shock and heat shock. Exerts its function
through the phosphorylation of EIF2S1 at 'Ser-48' and 'Ser-51', thus preventing its recycling. Binds hemin
forming a 1:1 complex through a cysteine thiolate and histidine nitrogenous coordination. This binding occurs
with moderate affinity, allowing it to sense the heme concentration within the cell. Thanks to this unique
heme-sensing capacity, plays a crucial role to shut off protein synthesis during acute heme-deficient conditions.
In red blood cells (RBCs), controls hemoglobin synthesis ensuring a coordinated regulation of the synthesis of
its heme and globin moieties. Thus plays an essential protective role for RBC survival in anemias of iron
deficiency. Similarly, in hepatocytes, involved in heme-mediated translational control of CYP2B and CYP3A and
possibly other hepatic P450 cytochromes. May also contain ER stress during acute heme-deficient conditions (By
similarity)

Gene Wiki entry for EIF2AK1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000007.13  NC_018918.2  NT_007819.18  
Regulatory elements:
   Regulatory transcription factor binding sites in the EIF2AK1 gene promoter:
         Max1   Bach1   NF-1   SREBP-1a   Sp1   SREBP-1c   SREBP-1b   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 7): EIF2AK1 promoter sequence
   Search Chromatin IP Primers for EIF2AK1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat EIF2AK1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 7p22   Ensembl cytogenetic band:  7p22.1   HGNC cytogenetic band: 7p22

EIF2AK1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
EIF2AK1 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07M006061:  view genomic region     (about GC identifiers)

Start:
6,061,878 bp from pter      End:
6,098,861 bp from pter
Size:
36,984 bases      Orientation:
minus strand

1 alternative location:
Chr7-,CRA_TCAG 6,108,223-6,145,211     

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: E2AK1_HUMAN, Q9BQI3 (See protein sequence)
Recommended Name: Eukaryotic translation initiation factor 2-alpha kinase 1  
Size: 630 amino acids; 71106 Da
Subunit: Synthesized in an inactive form that binds to the N-terminal domain of CDC37. Has to be associated with a
multiprotein complex containing Hsp90, CDC37 and PPP5C for maturation and activation by autophosphorylation. The
phosphatase PPP5C modulates this activation. Forms oligomers. Has been reported as a non-covalently bound
homodimer, as well as a hexamer in the absence of hemin. Converted to an inactive disulfide linked homodimer in
the presence of hemin (By similarity)
Miscellaneous: Can bind 1 molecules of heme per polypeptide chain (By similarity)
Sequence caution: Sequence=AAF70289.1; Type=Frameshift; Positions=24, 26, 33; Sequence=AAF71057.1; Type=Erroneous
initiation; Note=Translation N-terminally extended; Sequence=BAA92607.1; Type=Erroneous initiation;
Note=Translation N-terminally shortened;
Secondary accessions: A8K2R2 Q549K6 Q8NBW3 Q9HC02 Q9NYE0 Q9P0V6 Q9P1J5 Q9P2H8 Q9UHG4
Alternative splicing: 2 isoforms:  Q9BQI3-1   Q9BQI3-2   

Explore the universe of human proteins at neXtProt for EIF2AK1: NX_Q9BQI3

Explore proteomics data for EIF2AK1 at MOPED

Post-translational modifications: 

  • Activated by autophosphorylation; phosphorylated predominantly on serine and threonine residues, but also on
    tyrosine residues. Autophosphorylation at Thr-488 is required for kinase activation. The active
    autophosphorylated form apparently is largely refractory to cellular heme fluctuations (By similarity)1
  • Ubiquitination2 at Lys472
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for EIF2AK1 (Q9BQI3) (see all 13)
     VHRDLKP  QKIRSRE  LGKGGYG  IVHRDLK 


    See EIF2AK1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001127807.1  NP_055228.2  

    ENSEMBL proteins: 
     ENSP00000199389   ENSP00000392734   ENSP00000392459   ENSP00000397590   ENSP00000445784  

    EIF2AK1 Human Recombinant Protein Products:

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    Novus Biologicals EIF2AK1 Lysate
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    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for EIF2AK1 

    EIF2AK1 Antibody Products:

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    Search eBioscience for ELISAs for EIF2AK1 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    IUPHAR Guide to PHARMACOLOGY protein family classification: eukaryotic translation initiation factor 2-alpha kinase 1
    Other PEK family kinases

    4 InterPro protein domains:
     IPR017441 Protein_kinase_ATP_BS
     IPR011009 Kinase-like_dom
     IPR008271 Ser/Thr_kinase_AS
     IPR000719 Prot_kinase_dom

    Graphical View of Domain Structure for InterPro Entry Q9BQI3

    ProtoNet protein and cluster: Q9BQI3

    UniProtKB/Swiss-Prot: E2AK1_HUMAN, Q9BQI3
    Similarity: Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. GCN2 subfamily
    Similarity: Contains 2 HRM (heme regulatory motif) repeats
    Similarity: Contains 1 protein kinase domain


    Find genes that share domains with EIF2AK1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: E2AK1_HUMAN, Q9BQI3
    Function: Inhibits protein synthesis at the translation initiation level, in response to various stress
    conditions, including oxidative stress, heme deficiency, osmotic shock and heat shock. Exerts its function
    through the phosphorylation of EIF2S1 at 'Ser-48' and 'Ser-51', thus preventing its recycling. Binds hemin
    forming a 1:1 complex through a cysteine thiolate and histidine nitrogenous coordination. This binding occurs
    with moderate affinity, allowing it to sense the heme concentration within the cell. Thanks to this unique
    heme-sensing capacity, plays a crucial role to shut off protein synthesis during acute heme-deficient conditions.
    In red blood cells (RBCs), controls hemoglobin synthesis ensuring a coordinated regulation of the synthesis of
    its heme and globin moieties. Thus plays an essential protective role for RBC survival in anemias of iron
    deficiency. Similarly, in hepatocytes, involved in heme-mediated translational control of CYP2B and CYP3A and
    possibly other hepatic P450 cytochromes. May also contain ER stress during acute heme-deficient conditions (By
    similarity)
    Catalytic activity: ATP + a protein = ADP + a phosphoprotein
    Enzyme regulation: Induced by acute heme depletion, that not only increases EIF2AK1 protein levels, but also
    stimulates kinase activity by autophosphorylation. Inhibited by the heme-degradation products biliverdin and
    bilirubin. Induced by oxidative stress generated by arsenite treatment. Binding of nitric oxide (NO) to the heme
    iron in the N-terminal heme-binding domain activates the kinase activity, while binding of carbon monoxide (CO)
    suppresses kinase activity (By similarity)

         Enzyme Numbers (IUBMB): EC 2.7.11.11 2 EC 2.7.112

         Gene Ontology (GO): Selected molecular function terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003743translation initiation factor activity ----
    GO:0004672protein kinase activity ----
    GO:0004674protein serine/threonine kinase activity ----
    GO:0004694eukaryotic translation initiation factor 2alpha kinase activity IDA11036079
    GO:0004713protein tyrosine kinase activity ----
         
    Find genes that share ontologies with EIF2AK1           About GenesLikeMe


    Phenotypes:
         4 GenomeRNAi human phenotypes for EIF2AK1:
     Cell division defect  Decreased G3BP1 protein expres  Gemcitabine induced cell-death  Increased cell number in G2M,  

         3 MGI mutant phenotypes (inferred from 1 allele(MGI details for Eif2ak1):
     cardiovascular system  hematopoietic system  homeostasis/metabolism 

    Find genes that share phenotypes with EIF2AK1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Eif2ak1tm1Jjch for EIF2AK1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for EIF2AK1
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for EIF2AK1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for EIF2AK1

    miRNA
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    miRTarBase miRNAs that target EIF2AK1:
    hsa-mir-92b-3p (MIRT040713), hsa-mir-7-5p (MIRT025934), hsa-mir-221-3p (MIRT024150), hsa-let-7b-5p (MIRT052113), hsa-mir-93-3p (MIRT038895), hsa-mir-92a-3p (MIRT049608)

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    Selected qRT-PCR Assays for microRNAs that regulate EIF2AK1 (see all 9):
    hsa-miR-3673 hsa-miR-181c hsa-miR-181a hsa-miR-7 hsa-miR-4282 hsa-miR-181d hsa-miR-145 hsa-miR-181b
    SwitchGear 3'UTR luciferase reporter plasmidEIF2AK1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat EIF2AK1

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EIF2AK1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    E2AK1_HUMAN, Q9BQI3: Cytoplasm (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol2
    endoplasmic reticulum2
    nucleus2

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--

    Find genes that share ontologies with EIF2AK1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for EIF2AK1 About   (see all 6)  
    See pathways by source

    SuperPathContained pathways About
    1Influenza A
    Influenza A0.34
    Herpes simplex infection0.33
    Measles0.34
    2Translation Insulin regulation of translation
    Translation Regulation activity of EIF20.47
    3Translation Factors
    Translation Factors
    4Protein processing in endoplasmic reticulum
    Protein processing in endoplasmic reticulum
    5Hepatitis C
    Hepatitis C


    Find genes that share SuperPaths with EIF2AK1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for EIF2AK1
        eIF2 Pathway

    1 GeneGo (Thomson Reuters) Pathway for EIF2AK1
        Translation Regulation of EIF2 activity

    1 BioSystems Pathway for EIF2AK1
        Translation Factors



    Selected Kegg Pathways  (Kegg details for EIF2AK1) (see all 6):
        Protein processing in endoplasmic reticulum
    Hepatitis C
    Measles
    Influenza A
    Herpes simplex infection

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for EIF2AK1
    Interactions:

        GeneGlobe Interaction Network for EIF2AK1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for EIF2AK1 (Q9BQI33 ENSP000001993894) via UniProtKB, MINT, STRING, and/or I2D (see all 120)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    EIF2S1P051983, ENSP000002563834I2D: score=2 STRING: ENSP00000256383
    CDC37Q165433, ENSP000002220054I2D: score=2 STRING: ENSP00000222005
    HSP90AA1P079003, ENSP000003351534I2D: score=1 STRING: ENSP00000335153
    TGFBR1P368973, ENSP000003641334I2D: score=2 STRING: ENSP00000364133
    PIK3CAP423363I2D: score=2 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006417regulation of translation ----
    GO:0006468protein phosphorylation ----
    GO:0006950response to stress IEP11036079
    GO:0008285negative regulation of cell proliferation IEA--
    GO:0009605response to external stimulus IEP11036079

    Find genes that share ontologies with EIF2AK1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for EIF2AK1 (E2AK1)

    6 HMDB Compounds for EIF2AK1    About this table
    CompoundSynonyms CAS #PubMed Ids
    ADPadenosindiphosphorsaeure (see all 8)58-64-0--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    Carbon monoxideCarbon monoxide (see all 2)124-38-9--
    Heme(protoporphyrinato)iron (see all 19)14875-96-8--
    HeminChloro(protoporphyrinato)iron (see all 25)16009-13-5--
    IronArmco iron (see all 19)7439-89-6--

    5 Novoseek inferred chemical compound relationships for EIF2AK1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    arsenite 46.5 2 12767237 (1)
    alanine 13.4 2 14580204 (1), 10026192 (1)
    threonine 11.3 1 1679235 (1)
    nitric oxide 0 12 14752110 (6), 17689536 (1)
    tyrosine 0 1 14580201 (1)



    Find genes that share compounds with EIF2AK1           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for EIF2AK1 gene (2 alternative transcripts): 
    NM_001134335.1  NM_014413.3  

    Unigene Cluster for EIF2AK1:

    Eukaryotic translation initiation factor 2-alpha kinase 1
    Hs.520205  [show with all ESTs]
    Unigene Representative Sequence: NM_014413
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000199389(uc003spp.3 uc003spq.3 uc011jwm.1) ENST00000422786
    ENST00000490523 ENST00000495565 ENST00000474029 ENST00000470168(uc003spr.1)
    ENST00000431744 ENST00000463213 ENST00000446699 ENST00000461493 ENST00000536084

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    hsa-miR-3673 hsa-miR-181c hsa-miR-181a hsa-miR-7 hsa-miR-4282 hsa-miR-181d hsa-miR-145 hsa-miR-181b
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    Primer
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      QuantiTect SYBR Green Assays in human, mouse, rat EIF2AK1
      QuantiFast Probe-based Assays in human, mouse, rat EIF2AK1

    Additional mRNA sequence: 

    AB037790.1 AF085994.1 AF100784.1 AF116615.2 AF116634.1 AF147094.1 AF183414.1 AF255050.1 
    AK075192.1 AK290327.1 AK295712.1 AL136563.1 AL834494.1 BC006524.2 

    Selected DOTS entries (see all 33):

    DT.100678744  DT.449929  DT.100678754  DT.100679104  DT.95165169  DT.100678748  DT.100678734  DT.100678740 
    DT.100847502  DT.92466975  DT.92466999  DT.100654347  DT.121093678  DT.211931  DT.80101513  DT.95165151 
    DT.95165165  DT.95209977  DT.121093576  DT.92467005  DT.100056206  DT.102835635  DT.121093570  DT.121093589 

    Selected AceView cDNA sequences (see all 600):

    AW664197 BF445581 BM463369 AI682780 CD674405 CN484916 BM460751 BM876470 
    BE889384 CK820283 BU069816 BX458797 CA308274 R08914 BM835822 AA284810 
    BU183438 BU626736 BM476281 BG753057 BQ923244 AI753024 AA136866 AA307415 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for EIF2AK1 (see all 13)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14a · 14b ^ 15 ^ 16a · 16b ^
    SP1:                                                                                                                    -                             -         
    SP2:                                                                                                                    -                             -         
    SP3:                                                                                                                    -                                       
    SP4:                                                                                                                    -                                       
    SP5:                    -                             -                                                                                                         

    ExUns: 17a · 17b ^ 18a · 18b
    SP1:                        
    SP2:                        
    SP3:                        
    SP4:                        
    SP5:                        


    ECgene alternative splicing isoforms for EIF2AK1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    EIF2AK1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAGTTGGCAG
    EIF2AK1 Expression
    About this image


    EIF2AK1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) fully expand
     
     Cartilage (Muscoskeletal System)    fully expand to see all 9 entries
             Articular Cartilage Cells Zeugopod Articular Cartilage
     
     Limb (Muscoskeletal System)    fully expand to see all 6 entries
             Central Intermediate Lamina Cells Zeugopod Synovial Joint
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Blood (Hematopoietic System)
             Proerythroblasts Hematopoietic Bone Marrow
     
     Liver (Hepatobiliary System)
    EIF2AK1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    EIF2AK1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.520205

    UniProtKB/Swiss-Prot: E2AK1_HUMAN, Q9BQI3
    Tissue specificity: Expressed predominantly in erythroid cells. At much lower levels, expressed in hepatocytes (at
    protein level)

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for EIF2AK1 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Eif2ak11 , 5 eukaryotic translation initiation factor 2 alpha kinase more1, 5 83.44(n)1
    83.33(a)1
      5 (82.67 cM)5
    154671  NM_013557.21  NP_038585.21 
     1438177885 
    chicken
    (Gallus gallus)
    Aves EIF2AK11 eukaryotic translation initiation factor 2-alpha kinase more 63.1(n)
    55.96(a)
      395360  NM_204648.1  NP_989979.1 
    lizard
    (Anolis carolinensis)
    Reptilia EIF2AK16
    eukaryotic translation initiation factor 2-alpha k...
    48(a)
    1 ↔ 1
    GL343507.1(209366-230316)
    African clawed frog
    (Xenopus laevis)
    Amphibia BU907195.12   -- 74.7(n)    BU907195.1 
    zebrafish
    (Danio rerio)
    Actinopterygii 570812772   -- 74.16(n)    57081277 
    worm
    (Caenorhabditis elegans)
    Secernentea gcn-26
    Protein GCN-2, isoform b (gcn-2) mRNA, complete cd...
    8(a)
    many ↔ many
    II(13084019-13091500) WBGene00013591
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes GCN26
    Protein kinase, phosphorylates the alpha-subunit o...
    9(a)
    1 → many
    IV(1025070-1030049) YDR283C


    ENSEMBL Gene Tree for EIF2AK1 (if available)
    TreeFam Gene Tree for EIF2AK1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for EIF2AK1 gene
    EIF2AK42  EIF2AK32  EIF2AK22  
    3 SIMAP similar genes for EIF2AK1 using alignment to 5 protein entries:     E2AK1_HUMAN (see all proteins):
    HRI    STK11    CDK4

    Find genes that share paralogs with EIF2AK1           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for EIF2AK1
    PGOHUM00000238218


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for EIF2AK1 (see all 722)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0404714
    A lung adenocarcinoma sample4--see VAR_0404712 G S mis40--------
    rs1411776351,2
    --6063978(+) GACGAA/GGGCAG 2 -- ut310--------
    rs342440491,2
    C--6064008(+) CGGTA-/AG/A  
      GA
    /GAA
    CCTTC
    6 -- ut31 cds12NA CSA 6
    rs1435911091,2
    --6064143(+) GAGCTC/TGTGGG 2 -- ut310--------
    rs1468077651,2
    C--6064327(+) CTTTCC/TGTCAT 4 R G mis10--------
    rs1489590531,2
    C--6064344(+) CCCCTC/TTGTCT 4 K R mis10--------
    rs2016072651,2
    --6064373(+) TGCTTC/GTTTAG 4 N K mis10--------
    rs2022018731,2
    F--6064468(+) AAAATA/GACTTT 2 -- int11Minor allele frequency- G:0.00EU 873
    rs1173698681,2
    F--6064658(+) AGAGAT/GGAGGT 2 -- int11Minor allele frequency- G:0.03NA 120
    rs1138181581,2
    F--6064662(+) ATGAGG/TTTTCG 2 -- int11Minor allele frequency- T:0.50CSA 2

    HapMap Linkage Disequilibrium report for EIF2AK1 (6061878 - 6098861 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for EIF2AK1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2658842CNV Deletion23128226
    esv988101CNV Deletion20482838
    esv1385792CNV Deletion17803354
    nsv436904CNV Insertion17901297
    nsv830894CNV Loss17160897
    esv1914954OTHER Inversion16254605
    nsv7392OTHER Inversion18451855

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing EIF2AK1
    DNA2.0 Custom Variant and Variant Library Synthesis for EIF2AK1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 613635    OMIM disorders: --


    Find genes that share disorders with EIF2AK1           About GenesLikeMe

    3 Novoseek inferred disease relationships for EIF2AK1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    protein deficiency 55.2 2 12767237 (1), 10671563 (1)
    hepatitis c 0 1 12818284 (1)
    cancer 0 1 20429927 (1)

    Genetic Association Database (GAD): EIF2AK1
    Human Genome Epidemiology (HuGE) Navigator: EIF2AK1 (14 documents)

    Export disorders for EIF2AK1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for EIF2AK1 gene, integrated from 10 sources (see all 80):
    (articles sorted by number of sources associating them with EIF2AK1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10718198)1, 2, 3 Nagase T.... Ohara O. (DNA Res. 2000)
    2. Hsp90 regulates p50(cdc37) function during the biogenesis of the active conformation of the heme-regulated eIF2 alpha kinase. (PubMed id 11036079)1, 2, 9 Shao J.... Matts R.L. (J. Biol. Chem. 2001)
    3. Regulation of protein synthesis by heme-regulated eIF-2 alpha kinase. (PubMed id 7709427)1, 3, 9 Chen J.J. and London I.M. (Trends Biochem. Sci. 1995)
    4. Cloning of hHRI, human heme-regulated eukaryotic initiation factor 2alpha kinase: down-regulated in epithelial ovarian cancers. (PubMed id 11101152)1, 2, 9 Hwang S.-Y.... Kim J.-C. (Mol. Cells 2000)
    5. Association of genetic variants with hemorrhagic stroke in Japanese individuals. (PubMed id 20198315)1, 4 Yoshida T....Yamada Y. (Int. J. Mol. Med. 2010)
    6. Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals. (PubMed id 19851296)1, 4 Oguri M....Yamada Y. (Am. J. Hypertens. 2010)
    7. Hepatic heme-regulated inhibitor (HRI) eukaryotic initiation factor 2alpha kinase: a protagonist of heme-mediated translational control of CYP2B enzymes and a modulator of basal endoplasmic reticulum stress tone. (PubMed id 20071449)1, 2 Acharya P.... Correia M.A. (Mol. Pharmacol. 2010)
    8. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    10. Human chromosome 7: DNA sequence and biology. (PubMed id 12690205)1, 2 Scherer S.W.... Tsui L.-C. (Science 2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 27102 HGNC: 24921 AceView: HRI Ensembl:ENSG00000086232 euGenes: HUgn27102
    ECgene: EIF2AK1 Kegg: 27102 H-InvDB: EIF2AK1

    (According to HUGE)
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    HUGE: KIAA1369

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for EIF2AK1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for EIF2AK1 gene:
    Search GeneIP for patents involving EIF2AK1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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