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

EIF2AK1 Gene

protein-coding   GIFtS: 61
GCID: GC07M006061

eukaryotic translation initiation factor 2-alpha kinase...
 Explore 13 diseases affiliated with
EIF2AK1 via
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Biological research products
for EIF2AK1    

Aliases
for EIF2AK1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Eukaryotic Translation Initiation Factor 2-Alpha Kinase 11 2     HCR2 3
HRI1 2 3 5     EC 2.7.11.13 8
KIAA13691 3     Heme Regulated Initiation Factor 2 Alpha Kinase2
Heme-Controlled Repressor2 3     Heme Sensitive Initiation Factor 2a Kinase2
Heme-Regulated Eukaryotic Initiation Factor EIF-2-Alpha Kinase2 3     Heme-Regulated Initiation Factor 2-Alpha Kinase2
Heme-Regulated Inhibitor2 3     Heme-Regulated Repressor2
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


Summaries
for EIF2AK1 gene

(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:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000007.13  NC_018918.1  NT_007819.17  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     

Proteins
for EIF2AK1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

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
  • View modification sites using PhosphoSitePlus2
  • 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 MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

    ENSEMBL proteins: 
     ENSP00000199389   ENSP00000392734   ENSP00000415381   ENSP00000392459   ENSP00000397590  
     ENSP00000445784  

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    Browse ProSpec Recombinant Proteins
    Browse Proteins at Uscn

    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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    Protein Domains /
    Families
    for EIF2AK1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    EIF2AK1 for domains           About GeneDecksing

    5 InterPro domains/families:
     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


    Function
    for EIF2AK1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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)
    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

    miRNA
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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
    SwitchGear 3'UTR luciferase reporter plasmid: EIF2AK1 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Clone
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    Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7):    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:0005524ATP binding IEA--


    EIF2AK1 for ontologies           About GeneDecksing


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

    Animal Models:
         Mouse knock-out Eif2ak1tm1Jjch for EIF2AK1
         3 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Eif2ak1):
     cardiovascular system  hematopoietic system  homeostasis/metabolism 

    EIF2AK1 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for EIF2AK1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Measles
    		Measles1.00
    		Influenza A0.35
    2Development_CNTF receptor signaling
    		Translation _Regulation of EIF2 activity0.25
    		Translation Regulation activity of EIF20.25
    3Translation Factors
    		Translation Factors1.00
    4Hepatitis C
    		Hepatitis C1.00
    5Protein processing in endoplasmic reticulum
    		Protein processing in endoplasmic reticulum1.00

    Pathway sources
    See GeneCards unified pathways
    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


    4         Kegg Pathways  (Kegg details for EIF2AK1):
        Protein processing in endoplasmic reticulum
    Hepatitis C
    Measles
    Influenza A


    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



    Drugs & Compounds
    for EIF2AK1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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

    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 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 

    Transcripts
    for EIF2AK1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    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
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000199389(uc003spp.3 uc003spq.3 uc011jwm.1) ENST00000422786
    ENST00000490523 ENST00000426957 ENST00000495565 ENST00000474029 ENST00000470168(uc003spr.1)
    ENST00000431744 ENST00000463213 ENST00000446699 ENST00000461493 ENST00000536084


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    Inhib. RNA
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    Additional cDNA 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):

    AA868035 AA297856 BF726797 CB306888 AA284810 BG287018 AI699768 BE742325 
    AW073679 BM909974 BU844430 BX342746 BM452354 AA196523 CR620243 AA988632 
    R80011 N68633 BM841828 BG057055 BM458318 AA773441 AA427870 AA593991 

    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

    Expression
    for EIF2AK1 gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GAGTTGGCAG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    EIF2AK1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    9 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    CartilageAutopod Articular CartilageArticular Cartilage CellsCartilage
    CartilageStylopod Articular CartilageArticular Cartilage CellsCartilage
    CartilageZeugopod Articular CartilageArticular Cartilage CellsCartilage
    LimbAutopod Synovial JointCentral Intermediate Lamina CellsCartilage
    LimbAutopod Synovial JointInterzone CellsCartilage
    LimbStylopod Synovial JointCentral Intermediate Lamina CellsCartilage
    LimbStylopod Synovial JointInterzone CellsCartilage
    LimbZeugopod Synovial JointCentral Intermediate Lamina CellsCartilage
    LimbZeugopod Synovial JointInterzone CellsCartilage
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    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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    In Situ
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    Orthologs
    for EIF2AK1 gene

    (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 eukaryotes.

    Orthologs for EIF2AK1 gene from 7/26 species (see all 26)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    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
    		 --
    		 51(a)
    		 1 ↔ 1
    		 GL343507.1(209570-225492)
    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 
    worm
    (Caenorhabditis elegans)    		 Secernentea gcn-26
    		 Protein GCN-2, isoform a
    		 7(a)
    		 possible ortholog
    		 II(13083949-13091430)
    rice
    (Oryza sativa)    		 Liliopsida --
    --
    (see all 5)    		 phosphoenolpyruvate carboxylase kinase, putative
    (see all 5)    		 28(a)
    20(a)
    (see all 5)    		 many ↔ many
    many ↔ many
    (see all 5)    		 3(22444319-22446222)
    3(12439381-12441428)


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

    Paralogs
    for EIF2AK1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for EIF2AK1 gene
    EIF2AK42  EIF2AK32  EIF2AK22  
    12 SIMAP similar genes for EIF2AK1 using alignment to 6 protein entries:     E2AK1_HUMAN (see all proteins):
    HRI    GALK2    PFKFB3    ATF1    KIAA0101    STK11
    NCKAP1L    C21orf37    TUBA1C    MAPK8    CDK4    EIF2AK3

    EIF2AK1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for EIF2AK1
    PGOHUM00000238218


    Genomic Variants
    for EIF2AK1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/680 NCBI SNPs in EIF2AK1 are shown (see all 680)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 7 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1411776351,2
    		--6063978(+) GACGAA/GGGCAG 2 -- ut310--------
    rs1469295951,2
    		C,--6064007(+) GCGGT-/AGAACCTT 2 -- ut310--------
    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
    		--6064662(+) ATGAGG/TTTTCG 2 -- int11Minor allele frequency- T:0.50CSA 2
    rs1834816391,2
    		--6064717(+) CACCCA/GCCTCG 2 -- int10--------

    HapMap Linkage Disequilibrium report for EIF2AK1 (6061878 - 6098861 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for EIF2AK1
         1 Indel: 28669
         1 Inversion: 37290

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    Disorders / Diseases
    for EIF2AK1 gene

    (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
    EIF2AK1 for disorders           About GeneDecksing

    OMIM gene information: 613635    OMIM disorders: --

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

    3 Novoseek 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)

    Human Genome Epidemiology (HuGE) Navigator: EIF2AK1 (14 documents)

    Export disorders for EIF2AK1 gene to outside databases

    Publications
    for EIF2AK1 gene

    (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 73):
    (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. 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)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    7. 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)
    8. Human chromosome 7: DNA sequence and biology. (PubMed id 12690205)1, 2 Scherer S.W.... Tsui L.-C. (2003)
    9. Molecular cloning and sequencing of the human heme-regulated eukaryotic initiation factor 2 alpha (eIF-2 alpha) kinase from bone marrow culture. (PubMed id 12391722)1, 2 Omasa T.... Wu J.H. (2002)
    10. Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PubMed id 11230166)1, 2 Wiemann S.... Poustka A. (2001)

    External Searches for EIF2AK1 gene

    (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)

    Genome Databases showing EIF2AK1 gene

    (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

    Other Databases showing EIF2AK1 gene

    (According to HUGE)
    About This Section
    HUGE: KIAA1369

    Specialized Databases showing EIF2AK1 gene

    (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

    Intellectual Property
    for EIF2AK1 gene

    (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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