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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

EIF2AK1 Gene

protein-coding   GIFtS: 63
GCID: GC07M006061

Eukaryotic Translation Initiation Factor 2-Alpha Kinase...

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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. Diseases associated with EIF2AK1 include protein s deficiency, and beta thalassemia, and among its related super-pathways are Influenza A and Translation Insulin regulation of translation. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000007.13  NT_007819.17  NC_018918.2  NT_079592.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for EIF2AK1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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)
Subcellular location: Cytoplasm (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:

  • UniProtKB: 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)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9BQI3

  • 4/13 DME Specific Peptides for EIF2AK1 (Q9BQI3) (see all 13)
     VHRDLKP  QKIRSRE  LGKGGYG  IVHRDLK 

    EIF2AK1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    EIF2AK1 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001127807.1  NP_055228.2  

    ENSEMBL proteins: 
     ENSP00000199389   ENSP00000392734   ENSP00000392459   ENSP00000397590   ENSP00000445784  

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

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

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

    EIF2AK1 for ontologies           About GeneDecksing



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

    5 InterPro protein domains:
     IPR017441 Protein_kinase_ATP_BS
     IPR011009 Kinase-like_dom
     IPR008271 Ser/Thr_kinase_AS
     IPR000719 Prot_kinase_cat_dom
     IPR015516 Haem-reg_EIF2A_Kinase

    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


    EIF2AK1 for domains           About GeneDecksing


    (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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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): 5/9 molecular function terms (GO ID links to tree view) (see all 9):    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 ----
         
    EIF2AK1 for ontologies           About GeneDecksing


    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 

    EIF2AK1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Eif2ak1tm1Jjch for EIF2AK1

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    SwitchGear 3'UTR luciferase reporter plasmidEIF2AK1 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    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

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for EIF2AK1
        Translation Regulation activity of EIF2


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

    1 BioSystems Pathway for EIF2AK1
        Translation Factors



    5/6         Kegg Pathways  (Kegg details for EIF2AK1) (see all 6):
        Protein processing in endoplasmic reticulum
    Hepatitis C
    Measles
    Influenza A
    Herpes simplex infection


    EIF2AK1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for EIF2AK1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 20)

    5/21 Interacting proteins for EIF2AK1 (Q9BQI33 ENSP000001993894) via UniProtKB, MINT, STRING, and/or I2D (see all 21)
    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): 5/11 biological process terms (GO ID links to tree view) (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

    EIF2AK1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    EIF2AK1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    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)

    Search CenterWatch for drugs/clinical trials and news about EIF2AK1 / E2AK1

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
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    About This Section

    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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    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 

    24/33 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 

    24/600 AceView cDNA sequences (see all 600):

    AA428930 BG753057 BU170835 AA427870 BX458797 CR618147 BM476281 BM460751 
    F07068 AA486430 AA196523 BU069816 N68633 BI223396 AI678403 AA600852 
    AA587922 AI935973 AI699768 CA398212 CA433568 BM909974 BM458318 BE671749 

    GeneLoc Exon Structure

    5/13 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    EIF2AK1 expression in normal human tissues (normalized intensities)      EIF2AK1 embryonic expression: see
    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 
     5/6 selected tissues (see all 6) 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
     
     Ovary (Reproductive System)
             oocyte   
     
     Blood (Hematopoietic System)
             Proerythroblasts Hematopoietic Bone Marrow
     
     Spleen (Hematopoietic System)
             splenocytes   

    See EIF2AK1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for EIF2AK1

    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)
    About This Section

    This gene was present in the common ancestor of animals and fungi.

    Orthologs for EIF2AK1 gene from 7/16 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 62.98(n)
    55.78(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 
    mosquito
    (Anopheles gambiae)
    Insecta AgaP_AGAP0109251 AGAP010925-PA 42.16(n)
    31.43(a)
      1271026  XM_309768.4  XP_309768.4 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes GCN26
    Protein kinase, phosphorylates the alpha-subunit o...
    8(a)
    1 → many
    IV(1025070-1030049)


    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)
    About This Section
    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

    EIF2AK1 for paralogs           About GeneDecksing


    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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/722 SNPs in EIF2AK1 are shown (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

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 613635    OMIM disorders: --

    12 diseases for EIF2AK1:    About MalaCards
    protein s deficiency    beta thalassemia    thalassemia    vaccinia
    measles    hepatitis c    malaria    influenza
    ovarian cancer    hepatitis    anemia    pancreatitis


    EIF2AK1 for disorders           About GeneDecksing

    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)
    About This Section

    PubMed articles for EIF2AK1 gene, integrated from 9 sources (see all 79):
    (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. (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. (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. (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. (2000)
    5. Association of genetic variants with hemorrhagic stro ke in Japanese individuals. (PubMed id 20198315)1, 4 Yoshida T....Yamada Y. (2010)
    6. Assessment of a polymorphism of SDK1 with hypertensio n in Japanese Individuals. (PubMed id 19851296)1, 4 Oguri M....Yamada Y. (2010)
    7. Hepatic heme-regulated inhibitor (HRI) eukaryotic ini tiation factor 2alpha kinase: a protagonist of heme-mediated translational cont rol of CYP2B enzymes and a modulator of basal endoplasmic reticulum stress tone . (PubMed id 20071449)1, 2 Acharya P....Correia M.A. (2010)
    8. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (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. (2004)
    10. Human chromosome 7: DNA sequence and biology. (PubMed id 12690205)1, 2 Scherer S.W.... Tsui L.-C. (2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 27102 HGNC: 24921 AceView: HRI Ensembl:ENSG00000086232 euGenes: HUgn27102
    ECgene: EIF2AK1 Kegg: 27102 H-InvDB: EIF2AK1

    (According to HUGE)
    About This Section
    HUGE: KIAA1369

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



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    About This Section

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