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CHKA Gene

protein-coding   GIFtS: 61
GCID: GC11M067820

Choline Kinase Alpha

(Previous name: choline kinase)
(Previous symbol: CHK)
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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
Choline Kinase Alpha1 2     CKI2 3
CHK1 2 3 5     EK2 3
Ethanolamine Kinase2 3     Choline Kinase1
CHETK-alpha2 3     EC 2.7.1.323
CK2 3     EC 2.7.1.823

External Ids:    HGNC: 19371   Entrez Gene: 11192   Ensembl: ENSG000001107217   OMIM: 1184915   UniProtKB: P357903   

Export aliases for CHKA gene to outside databases

Previous GC identifers: GC11M067596 GC11M067576 GC11M064155


(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 CHKA Gene:
The major pathway for the biosynthesis of phosphatidylcholine occurs via the CDP-choline pathway. The protein
encoded by this gene is the initial enzyme in the sequence and may play a regulatory role. The encoded protein
also catalyzes the phosphorylation of ethanolamine. Two transcript variants encoding different isoforms have been
found for this gene. (provided by RefSeq, Jul 2008)

GeneCards Summary for CHKA Gene:
CHKA (choline kinase alpha) is a protein-coding gene. Diseases associated with CHKA include multiple acyl-coa dehydrogenase deficiency, and bronchiolitis obliterans organizing pneumonia. GO annotations related to this gene include drug binding and protein homodimerization activity. An important paralog of this gene is CHKB.

UniProtKB/Swiss-Prot: CHKA_HUMAN, P35790
Function: Has a key role in phospholipid biosynthesis and may contribute to tumor cell growth. Catalyzes the first
step in phosphatidylcholine biosynthesis. Contributes to phosphatidylethanolamine biosynthesis. Phosphorylates
choline and ethanolamine. Has higher activity with choline

Gene Wiki entry for CHKA 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:
NC_000011.10  NT_167190.2  NC_018922.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the CHKA gene promoter:
         AP-1   ATF-2   NRSF form 1   c-Jun   NRSF form 2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCHKA promoter sequence
   Search Chromatin IP Primers for CHKA

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


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

Entrez Gene cytogenetic band: 11q13.2   Ensembl cytogenetic band:  11q13.2   HGNC cytogenetic band: 11q13.1

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

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M067820:  view genomic region     (about GC identifiers)

Start:
67,820,326 bp from pter      End:
67,888,911 bp from pter
Size:
68,586 bases      Orientation:
minus strand

(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, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: CHKA_HUMAN, P35790 (See protein sequence)
Recommended Name: Choline kinase alpha  
Size: 457 amino acids; 52249 Da
Subunit: Heterodimer with CHKB (By similarity). Homodimer
Selected PDB 3D structures from and Proteopedia for CHKA (see all 12):
2CKO (3D)        2CKP (3D)        2CKQ (3D)        2I7Q (3D)        3F2R (3D)        3G15 (3D)    
Secondary accessions: Q8NE29
Alternative splicing: 2 isoforms:  P35790-1   P35790-2   

Explore the universe of human proteins at neXtProt for CHKA: NX_P35790

Explore proteomics data for CHKA at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys195
  • Modification sites at PhosphoSitePlus

  • See CHKA Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001268.2  NP_997634.1  

    ENSEMBL proteins: 
     ENSP00000265689   ENSP00000432631   ENSP00000348454   ENSP00000435032  
    Reactome Protein details: P35790

    CHKA Human Recombinant Protein Products:

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    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR011009 Kinase-like_dom
     IPR026712 Cho/Etha_kinase

    Graphical View of Domain Structure for InterPro Entry P35790

    ProtoNet protein and cluster: P35790

    1 Blocks protein domain: IPB002573 Choline/ethanolamine kinase

    UniProtKB/Swiss-Prot: CHKA_HUMAN, P35790
    Similarity: Belongs to the choline/ethanolamine kinase family


    CHKA 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,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CHKA_HUMAN, P35790
    Function: Has a key role in phospholipid biosynthesis and may contribute to tumor cell growth. Catalyzes the first
    step in phosphatidylcholine biosynthesis. Contributes to phosphatidylethanolamine biosynthesis. Phosphorylates
    choline and ethanolamine. Has higher activity with choline
    Catalytic activity: ATP + choline = ADP + phosphocholine
    Catalytic activity: ATP + ethanolamine = ADP + O-phosphoethanolamine
    Biophysicochemical properties: Kinetic parameters: KM=0.2 mM for choline; KM=0.4 mM for ATP; KM=12 mM for
    ethanolamine;

         Enzyme Numbers (IUBMB): EC 2.7.1.321 EC 2.7.1.821

         Gene Ontology (GO): Selected molecular function terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004103choline kinase activity IDA19915674
    GO:0004104cholinesterase activity IEA--
    GO:0004305ethanolamine kinase activity IDA19915674
    GO:0004871signal transducer activity TAS10363580
    GO:0005524ATP binding IEA--
         
    CHKA for ontologies           About GeneDecksing


    Phenotypes:
         3 MGI mutant phenotypes (inferred from 1 allele(MGI details for Chka):
     homeostasis/metabolism  liver/biliary system  mortality/aging 

    CHKA for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CHKA
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CHKA
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    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate CHKA (see all 29):
    hsa-miR-30c hsa-miR-607 hsa-miR-199b-3p hsa-miR-513a-5p hsa-miR-199a-3p hsa-miR-200a hsa-miR-487a hsa-miR-485-3p
    SwitchGear 3'UTR luciferase reporter plasmidCHKA 3' UTR sequence
    Inhib. RNA
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    (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
    CHKA_HUMAN, P35790: Cytoplasm
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    nucleus2
    cytoskeleton1
    extracellular1
    mitochondrion1
    plasma membrane1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol TAS--

    CHKA for ontologies           About GeneDecksing


    (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 CHKA About    
    See pathways by source

    SuperPathContained pathways About
    1Glycerophospholipid biosynthesis
    Glycerophospholipid biosynthesis0.64
    Synthesis of PC0.00
    Phospholipid metabolism0.64
    Synthesis of PE0.00
    Glycerophospholipid metabolism0.62
    2Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37
    Metabolic pathways0.38
    3phosphatidylcholine biosynthesis I
    phosphatidylcholine biosynthesis I
    4Acetylcholine Synthesis
    Acetylcholine Synthesis

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 BioSystems Pathways for CHKA
        Acetylcholine Synthesis
    phosphatidylcholine biosynthesis I

    2 Reactome Pathways for CHKA
        Synthesis of PE
    Synthesis of PC


    2 Kegg Pathways  (Kegg details for CHKA):
        Glycerophospholipid metabolism
    Metabolic pathways

    UniProtKB/Swiss-Prot: CHKA_HUMAN, P35790
    Pathway: Phospholipid metabolism; phosphatidylcholine biosynthesis; phosphocholine from choline: step 1/1
    Pathway: Phospholipid metabolism; phosphatidylethanolamine biosynthesis; phosphatidylethanolamine from
    ethanolamine: step 1/3


    CHKA for pathways           About GeneDecksing

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

        GeneGlobe Interaction Network for CHKA

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

    Selected Interacting proteins for CHKA (P357903 ENSP000002656894) via UniProtKB, MINT, STRING, and/or I2D (see all 44)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    FCHSD2O948683, ENSP000003867224I2D: score=1 STRING: ENSP00000386722
    RCC1P187543, ENSP000003629374I2D: score=1 STRING: ENSP00000362937
    ACHEENSP000003032114STRING: ENSP00000303211
    CHATENSP000003371034STRING: ENSP00000337103
    PCYT1AENSP000002928234STRING: ENSP00000292823
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006629lipid metabolic process TAS10363580
    GO:0006644phospholipid metabolic process TAS--
    GO:0006646phosphatidylethanolamine biosynthetic process TAS--
    GO:0006656phosphatidylcholine biosynthetic process TAS--
    GO:0006657CDP-choline pathway TAS10363580

    CHKA for ontologies           About GeneDecksing



    (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 CHKA

    Selected HMDB Compounds for CHKA (see all 1079)    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--
    Choline(2-Hydroxyethyl)trimethyl ammonium (see all 19)62-49-7--
    PC(14:0/14:0)Phosphatidylcholine(14:0/14:0) (see all 8)----
    PC(14:0/14:1(9Z))Phosphatidylcholine(14:0/14:1) (see all 14)----
    PC(14:0/15:0)GPCho(14:0/15:0) (see all 8)----
    PC(14:0/16:0)GPCho(30:0) (see all 8)----
    PC(14:0/16:1(9Z))1-myristoyl-2-palmitoleoyl-sn-glycero-3-phosphocholine (see all 14)----
    PC(14:0/18:0)1-myristoyl-2-stearoyl-sn-glycero-3-phosphocholine (see all 8)----
    PC(14:0/18:1(11Z))Phosphatidylcholine(14:0/18:1w7) (see all 14)----

    1 DrugBank Compound for CHKA    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    CholineBilineurine (see all 7)62-49-7enzymesubstrate16322253 16144842 17007874 17236204

    Selected Novoseek inferred chemical compound relationships for CHKA gene (see all 80)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    creatinine 82.4 303 8732503 (3), 19112826 (3), 7882493 (2), 12849672 (2) (see all 99)
    cyclocreatine 68.3 6 9277372 (2)
    phosphocreatine 53.2 19 19112826 (2), 7739220 (2), 7882493 (1), 12849672 (1) (see all 11)
    gemfibrozil 49.8 6 1492008 (2), 15900215 (1), 19934390 (1)
    lipid 48.9 30 10734332 (2), 12607822 (2), 2175569 (1), 16178496 (1) (see all 27)
    guanidinoacetate 46.3 5 17407807 (3), 16773469 (2)
    aspartate 46 22 7976144 (1), 2089182 (1), 10920544 (1), 19317652 (1) (see all 22)
    choline 45.5 35 11752077 (3), 10822168 (2), 16820874 (2), 18056454 (2) (see all 18)
    phosphorylcholine 42.5 14 18056454 (4), 15003397 (2), 18172309 (1), 10363580 (1) (see all 5)
    lovastatin 41.8 12 9322808 (3), 1492008 (2), 10999499 (1), 8725265 (1) (see all 6)



    CHKA for compounds           About GeneDecksing



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for CHKA gene (2 alternative transcripts): 
    NM_001277.2  NM_212469.1  

    Unigene Cluster for CHKA:

    Choline kinase alpha
    Hs.77221  [show with all ESTs]
    Unigene Representative Sequence: AK054792
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000265689(uc001onj.3 uc001onk.3) ENST00000533728 ENST00000525155
    ENST00000356135 ENST00000533910 ENST00000528235 ENST00000531341 ENST00000530730


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    hsa-miR-30c hsa-miR-607 hsa-miR-199b-3p hsa-miR-513a-5p hsa-miR-199a-3p hsa-miR-200a hsa-miR-487a hsa-miR-485-3p
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    Additional mRNA sequence: 

    AK054792.1 AL834403.1 BC036471.2 D10704.1 

    17 DOTS entries:

    DT.97816371  DT.87018001  DT.100749792  DT.441457  DT.95273279  DT.91665552  DT.100641700  DT.100773742 
    DT.91970788  DT.92402015  DT.120694515  DT.120694558  DT.86856215  DT.92449514  DT.95273276  DT.95303221 
    DT.95360346 

    Selected AceView cDNA sequences (see all 156):

    AW016490 BG765406 BQ708716 CD358050 BP369810 W76463 CB108651 BU686771 
    AV707021 AU131093 NM_212469 BQ674878 NM_001277 BE857452 BI039685 AA767660 
    BF058897 CK430329 BQ639677 BF514960 BQ637411 AW592513 BQ338888 AI990049 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for CHKA (see all 6)    About this scheme

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


    ECgene alternative splicing isoforms for CHKA

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

    CHKA Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CHKA Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.77221
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CHKA

    (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 eukaryotes.

    Orthologs for CHKA gene from Selected species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Chka1 , 5 choline kinase alpha1, 5 86.39(n)1
    88.08(a)1
      19 (3.57 cM)5
    126601  NM_001271496.11  NP_001258425.11 
     38517735 
    chicken
    (Gallus gallus)
    Aves CHKA1 choline kinase alpha 75.88(n)
    76(a)
      423112  XM_421045.4  XP_421045.3 
    lizard
    (Anolis carolinensis)
    Reptilia CHKA6
    choline kinase alpha
    78(a)
    1 ↔ 1
    1(75044711-75076842)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.128342 Xenopus laevis transcribed sequence with weak similarity more 78.32(n)    BJ073689.1 
    zebrafish
    (Danio rerio)
    Actinopterygii chka1 choline kinase alpha 70.11(n)
    70.67(a)
      558499  NM_001044865.1  NP_001038330.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG22016
    --
    26(a)
    1 → many
    2L(21614232-21623627)
    worm
    (Caenorhabditis elegans)
    Secernentea cka-21 cka-2 51.96(n)
    43.55(a)
      180703  NM_001029309.4  NP_001024480.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes EKI1(YDR147W)4 Ethanolamine kinase, primarily responsible for phosphatidylethanolamine more   --   4(751631-753235) 851725  NP_010431.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons CK11 CK1 46.39(n)
    36.25(a)
      843500  NM_105828.3  NP_177315.1 
    rice
    (Oryza sativa)
    Liliopsida Os01g01830001 Os01g0183000 48.49(n)
    38.71(a)
      4325332  NM_001048758.2  NP_001042223.2 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CHKA gene
    CHKB2  ETNK12  CHKB-CPT1B2  ETNK22  
    2 SIMAP similar genes for CHKA using alignment to 3 protein entries:     CHKA_HUMAN (see all proteins):
    CHKB    ETNK2

    CHKA for paralogs           About GeneDecksing



    (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 CHKA (see all 1221)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1846255271,2
    --67819849(+) CTCGTA/GTGGAC 2 -- ds50010--------
    rs1873789301,2
    --67819969(+) ATTCAA/GTTTGG 2 -- ds50010--------
    rs1927084801,2
    --67820040(+) CCAGCC/TGCTCA 2 -- ds50010--------
    rs1139623361,2
    C,F--67820067(+) GCACTG/TCTCCC 2 -- ds50011Minor allele frequency- T:0.50CSA 2
    rs1380883911,2
    C--67820141(+) GGGGAA/TGAAGA 2 -- ds50010--------
    rs2003457511,2
    C--67820147(+) GAAGA-/GGA   
      GGAGGT
    GGAGG
    2 -- ds50010--------
    rs1848623961,2
    --67820258(+) CCTCCA/GTGGGC 2 -- ds50010--------
    rs1893245501,2
    --67820326(+) TGAGGC/TTGGGT 2 -- ut310--------
    rs114811,2
    C,F,A,H--67820335(-) AAAATT/AAAAAC 2 -- ut3114Minor allele frequency- A:0.45EA NA WA CSA 422
    rs1180319711,2
    C,F--67820400(+) TTCAAA/GTAAGA 2 -- ut311Minor allele frequency- G:0.01NA 120

    HapMap Linkage Disequilibrium report for CHKA (67820326 - 67888911 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for CHKA (see all 13):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2677355CNV Deletion23128226
    dgv1208n71CNV Loss21882294
    nsv897855CNV Loss21882294
    nsv469964CNV Loss18288195
    nsv371CNV Loss18451855
    dgv1203n71CNV Loss21882294
    dgv1207n71CNV Loss21882294
    dgv1204n71CNV Loss21882294
    nsv825963CNV Gain20364138
    nsv897852CNV Gain21882294

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

    (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.)
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    OMIM gene information: 118491    OMIM disorders: --

    Selected diseases for CHKA (see all 89):    
    About MalaCards
    multiple acyl-coa dehydrogenase deficiency    bronchiolitis obliterans organizing pneumonia    west nile encephalitis    pycnodysostosis
    compartment syndrome    polymyositis    bronchiolitis obliterans    bronchiolitis
    neuroleptic malignant syndrome    pseudohypoparathyroidism    cellulitis    paraneoplastic syndromes
    churg-strauss syndrome    leukomalacia    dermatomyositis    acute myocardial infarction
    hypothyroidism    orofacial cleft    focal segmental glomerulosclerosis    craniopharyngioma

    1 disease from the University of Copenhagen DISEASES database for CHKA:
    Cancer

    CHKA for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    Selected Novoseek inferred disease relationships for CHKA gene (see all 85)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    rhabdomyolysis 67.6 12 1996798 (2), 7555662 (1), 8334797 (1), 8935369 (1) (see all 10)
    myopathy 62.8 7 11388581 (1), 12766976 (1), 8725265 (1), 1470677 (1) (see all 6)
    lipid storage myopathy 56.9 1 10723193 (1)
    myositis 46.2 4 19934390 (2), 16102434 (1), 10084410 (1)
    polymyositis 46 5 20459937 (3), 2265497 (1), 19498309 (1)
    metastasis 43.1 13 11455556 (2), 18067640 (2), 15498190 (2), 15914276 (1) (see all 9)
    crush syndrome 43.1 6 19317652 (3), 11172437 (1)
    tumors 42.5 78 9208116 (4), 16355400 (3), 15938530 (3), 9704623 (2) (see all 43)
    cancer 40.6 44 16820874 (2), 20522957 (2), 9988223 (1), 11752077 (1) (see all 28)
    breast cancer 39.5 12 19417625 (2), 1696538 (1), 9704623 (1), 9828843 (1) (see all 10)

    Genetic Association Database (GAD): CHKA
    Human Genome Epidemiology (HuGE) Navigator: CHKA (5 documents)

    Export disorders for CHKA 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 CHKA gene, integrated from 10 sources (see all 472):
    (articles sorted by number of sources associating them with CHKA)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning of a human choline kinase cDNA by complementation of the yeast cki mutation. (PubMed id 1618328)1, 2, 3 Hosaka K.... Yamashita S. (FEBS Lett. 1992)
    2. Structure and function of choline kinase isoforms in mammalian cells. (PubMed id 15003397)1, 3, 9 Aoyama C....Ishidate K. (Prog. Lipid Res. 2004)
    3. Differential role of human choline kinase alpha and beta enzymes in lipid metabolism: implications in cancer onset and treatment. (PubMed id 19915674)1, 2, 9 Gallego-Ortega D.... Lacal J.C. (PLoS ONE 2009)
    4. Associations of folate and choline metabolism gene polymorphisms with orofacial clefts. (PubMed id 19737740)1, 4 Mostowska A....Jagodzinski P.P. (J. Med. Genet. 2010)
    5. Polymorphisms located in the region containing BHMT and BHMT2 genes as maternal protective factors for orofacial clefts. (PubMed id 20662904)1, 4 Mostowska A....Jagodzinski P.P. (Eur. J. Oral Sci. 2010)
    6. Crystal structures of human choline kinase isoforms in complex with hemicholinium-3: single amino acid near the active site influences inhibitor sensitivity. (PubMed id 20299452)1, 2 Hong B.S.... Park H.W. (J. Biol. Chem. 2010)
    7. CHKA and PCYT1A gene polymorphisms, choline intake and spina bifida risk in a California population. (PubMed id 17184542)1, 4 Enaw J.O....Finnell R.H. (BMC Med 2006)
    8. Elucidation of human choline kinase crystal structures in complex with the products ADP or phosphocholine. (PubMed id 17007874)2, 7 Malito E.... Lavie A. (J. Mol. Biol. 2006)
    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. Generation and characterization of monoclonal antibodies against choline kinase alpha and their potential use as diagnostic tools in cancer. (PubMed id 16820874)1, 9 Gallego-Ortega D....Lacal J.C. (Int. J. Oncol. 2006)

    (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: 1119 HGNC: 1937 AceView: CHKA Ensembl:ENSG00000110721 euGenes: HUgn1119
    ECgene: CHKA Kegg: 1119 H-InvDB: CHKA

    (According to HUGE)
    About This Section

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      --

    (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 CHKA Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for CHKA Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for CHKA gene:
    Search GeneIP for patents involving CHKA

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



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