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

ADK Gene

protein-coding   GIFtS: 71
GCID: GC10P075910

adenosine kinase

 Explore 39 diseases affiliated with
ADK via our new
 Human Malady Compendium 
Biological research products
for ADK
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Adenosine Kinase1 2
AK1 2 3
Adenosine 5'-Phosphotransferase2 3
EC 2.7.1.203 8
EC 2.7.18

External Ids:    HGNC: 2571   Entrez Gene: 1322   Ensembl: ENSG000001561107   OMIM: 1027505   UniProtKB: P552633   

Export aliases for ADK gene to outside databases

Previous GC identifers: GC10P074865 GC10P075014 GC10P075803 GC10P075255 GC10P075580 GC10P069907


(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 ADK:
This gene an enzyme which catalyzes the transfer of the gamma-phosphate from ATP to adenosine, thereby serving as a
regulator of concentrations of both extracellular adenosine and intracellular adenine nucleotides. Adenosine has
widespread effects on the cardiovascular, nervous, respiratory, and immune systems and inhibitors of the enzyme could
play an important pharmacological role in increasing intravascular adenosine concentrations and acting as
anti-inflammatory agents. Multiple transcript variants encoding different isoforms have been found for this gene.
(provided by RefSeq, Jan 2011)

UniProtKB/Swiss-Prot: ADK_HUMAN, P55263
Function: ATP dependent phosphorylation of adenosine and other related nucleoside analogs to monophosphate derivatives.
Serves as a potential regulator of concentrations of extracellular adenosine and intracellular adenine nucleotides

summary for ADK:
Adenosine kinase (ADK) is a highly conserved monomeric enzyme that constitutes the primary route of
adenosine metabolism under normal conditions. ADK acts to decrease intracellular adenosine levels by
catalyzing its conversion into AMP and ADP, using ATP as a phosphate donor and a divalent cation, for
example Mg2+, as a co-factor. ADK is regulated by inorganic phosphate levels, the concentration of local
free Mg2+ and contains a NXXE motif that is vital for phosphate activation. Inhibition of this enzyme has
been implicated in tissue-protective mechanisms against various physiological stresses, including ischemia,
seizures, inflammation and pain, thus there is much interest in developing pharmacological ADK inhibitors.

Gene Wiki entry for ADK


(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_000010.10  NC_018921.1  NT_030059.13  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ADK gene promoter:
         TBP   GR   PPAR-gamma1   Pax-5   GR-beta   GR-alpha   PPAR-gamma2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): ADK promoter sequence
   Search SABiosciences Chromatin IP Primers for ADK

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ADK


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

Entrez Gene cytogenetic band: 10q22|10q11-q24   Ensembl cytogenetic band:  10q22.2   HGNC cytogenetic band: 10q22.2

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

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10P075910:  view genomic region     (about GC identifiers)

Start:
75,910,960 bp from pter      End:
76,469,061 bp from pter
Size:
558,102 bases      Orientation:
plus strand

(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: ADK_HUMAN, P55263 (See protein sequence)
Recommended Name: Adenosine kinase  
Size: 362 amino acids; 40545 Da
Cofactor: Binds 3 magnesium ions per subunit
Subunit: Monomer
Sequence caution: Sequence=AAB01689.1; Type=Frameshift; Positions=17;
3 PDB 3D structures from and Proteopedia for ADK:
1BX4 (3D)        2I6A (3D)        2I6B (3D)    
Secondary accessions: B7Z783 O00741 O00742 Q16710 Q5JQ11 Q9BTN2
Alternative splicing: 3 isoforms:  P55263-1   P55263-2   P55263-3   

Explore the universe of human proteins at neXtProt for ADK: NX_P55263

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P55263

  • 4/8 DME Specific Peptides for ADK (P55263) (see all 8)
     TESEVTA  MGNPLLD  FTQGRDDT  DTNGAGDAF 

    ADK Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (4 alternative transcripts): 
    NP_001114.2  NP_001189378.1  NP_001189379.1  NP_006712.2  

    ENSEMBL proteins: 
     ENSP00000286621   ENSP00000361819   ENSP00000443965   ENSP00000438321  
    Reactome Protein details: P55263
    Human Recombinant Protein Products: 
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    Uscn Proteins for ADK

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--
    GO:0005829cytosol TAS--


    ADK for ontologies           About GeneDecksing



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

    ADK for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR011611 PfkB_dom
     IPR002173 Carboh/pur_kinase_PfkB_CS
     IPR001805 Adenokinase

    Graphical View of Domain Structure for InterPro Entry P55263

    ProtoNet protein and cluster: P55263

    2 Blocks protein families:
    IPB001805 Adenosine kinase signature
    IPB002173 Carbohydrate kinase


    UniProtKB/Swiss-Prot: ADK_HUMAN, P55263
    Similarity: Belongs to the carbohydrate kinase PfkB family


    (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: ADK_HUMAN, P55263
    Function: ATP dependent phosphorylation of adenosine and other related nucleoside analogs to monophosphate derivatives.
    Serves as a potential regulator of concentrations of extracellular adenosine and intracellular adenine nucleotides
    Catalytic activity: ATP + adenosine = ADP + AMP

         Genatlas biochemistry entry for ADK:
    adenosine kinase,38.7kDa

    Enzyme Numbers (IUBMB): EC 2.7.1.201 2 EC 2.7.12

    miRNA
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    hsa-miR-548j hsa-miR-520d-5p hsa-miR-548i hsa-miR-1271 hsa-miR-330-3p hsa-miR-548a-5p hsa-miR-548d-5p hsa-miR-3662
    SwitchGear 3'UTR luciferase reporter plasmidADK 3' UTR sequence
    Inhib. RNA
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    Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004001adenosine kinase activity EXP--
    GO:0005524ATP binding IEA--
    GO:0016773phosphotransferase activity, alcohol group as acceptor IEA--
    GO:0046872metal ion binding IEA--


    ADK for ontologies           About GeneDecksing


    3 GenomeRNAi human phenotypes for ADK:
     Decreased homologous recombina  Gemcitabine induced cell-death  Increased apoptosis 

    Animal Models:
         6 MGI mutant phenotypes (inferred from 1 allele(MGI details for Adk):
     growth/size  homeostasis/metabolism  liver/biliary system  mortality/aging  respiratory system 
     vision/eye 

    ADK for phenotypes           About GeneDecksing


    (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 - 5/6 super-pathways (see all 6About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Purine metabolism
    Purine metabolism1.00
    Purine salvage0.39
    Metabolism of nucleotides0.42
    2Metabolism
    Metabolism1.00
    Metabolic pathways0.38
    3ATP/ITP metabolism
    ATP/ITP metabolism1.00
    ATP/ITP metabolism0.98
    4adenine and adenosine salvage VI
    adenine and adenosine salvage VI1.00
    5Purine metabolism
    Purine metabolism1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 EMD Millipore Pathway for ADK
        ATP/ITP metabolism


    1 GeneGo (Thomson Reuters) Pathway for ADK
        ATP/ITP metabolism

    1 BioSystems Pathway for ADK 
        adenine and adenosine salvage VI

    4        Reactome Pathways for ADK
        Metabolism of nucleotides
    Metabolism
    Purine salvage
    Purine metabolism

    1 PharmGKB Pathway for ADK
        Thiopurine Pathway, Pharmacokinetics/Pharmacodynamics

    2         Kegg Pathways  (Kegg details for ADK):
        Purine metabolism
    Metabolic pathways

    UniProtKB/Swiss-Prot: ADK_HUMAN, P55263
    Pathway: Purine metabolism; AMP biosynthesis via salvage pathway; AMP from adenosine: step 1/1


    ADK for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ADK

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

    5/57 Interacting proteins for ADK (ENSP000002866214) via UniProtKB, MINT, STRING, and/or I2D (see all 57)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    AK1ENSP000003622494STRING: ENSP00000362249
    AK2ENSP000003469214STRING: ENSP00000346921
    AMPD1ENSP000003165204STRING: ENSP00000316520
    AMPD2ENSP000002565784STRING: ENSP00000256578
    ENTPD1ENSP000003602484STRING: ENSP00000360248
    About this table

    Gene Ontology (GO): 5/14 biological process terms (GO ID links to tree view) (see all 14):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006144purine nucleobase metabolic process TAS--
    GO:0006166purine ribonucleoside salvage IEA--
    GO:0006167AMP biosynthetic process ----
    GO:0006175dATP biosynthetic process IEA--
    GO:0009156ribonucleoside monophosphate biosynthetic process TAS9070863


    ADK for ontologies           About GeneDecksing



    (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

    ADK for compounds           About GeneDecksing

    EMD Millipore small molecules for ADK:
    Small Molecule - inhibitor
    Enzo Life Sciences drugs & compounds for ADK

    Compounds for ADK available from Tocris Bioscience    About this table
    CompoundAction CAS #
    5-IodotubercidinPotent adenosine kinase inhibitor. Also inhibits nucleoside transporters and a range of other kinases[24386-93-4]
    ABT 702 dihydrochlorideAdenosine kinase inhibitor; orally active[214697-26-4]

    6 HMDB Compounds for ADK    About this table
    CompoundSynonyms CAS #PubMed Ids
    ADPadenosindiphosphorsaeure (see all 8)58-64-0--
    Adenosine1-(6-amino-9H-purin-9-yl)-1-deoxy-beta-D-Ribofuranose (see all 32)58-61-7--
    Adenosine monophosphate5'-AMP (see all 28)61-19-8--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    MagnesiumMagnesium (see all 2)7439-95-4--
    PropranololDociton (see all 8)525-66-6--

    6 DrugBank Compounds for ADK    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    RibavirinRBV (see all 4)36791-04-5targetactivator17379518 15917509
    enzymesubstrate17379518 15917509 15917509
    Adenosine monophosphate5'-Adenosine monophosphate (see all 15)61-19-8targetproduct of18560757 17065073
    Adenosine triphosphate5'-ATP (see all 8)56-65-5enzymesubstrate18560757 17065073
    5-[4-(DIMETHYLAMINO)PHENYL]-6-[(6-MORPHOLIN-4-YLPYRIDIN-3-YL)ETHYNYL]PYRIMIDIN-4-AMINE-- --target--10592235
    7-(5-DEOXY-BETA-D-RIBOFURANOSYL)-5-IODO-7H-PYRROLO[2,3-D]PYRIMIDIN-4-AMINE-- --target--10592235
    Adenosine2'-Deoxyadenosine (see all 11)58-61-7enzymesubstrate17056128

    10/74 Novoseek chemical compound relationships for ADK gene (see all 74)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    5-iodotubercidin 94.2 18 8341136 (1), 8832217 (1), 20194527 (1), 8230132 (1) (see all 17)
    5'-amino-5'-deoxyadenosine 93.8 9 8605954 (1), 8832217 (1), 15694368 (1), 7622293 (1) (see all 9)
    2-methyladenosine 92.9 1 14594827 (1)
    6-benzylthioinosine 92.5 8 15055998 (3), 15857605 (2), 17306769 (1), 18755159 (1)
    2-carboxyethylphosphonic acid 85.1 4 15106882 (1), 16444581 (1)
    tubercidin 82.9 5 14692505 (2), 1930301 (1), 18755159 (1), 8847946 (1)
    erythro-9-(2 hydroxy 3-nonyl)adenine 82.5 5 20194527 (1), 1479623 (1), 8111778 (1), 10988261 (1) (see all 5)
    purine 81.6 20 2085379 (1), 14594827 (1), 15055998 (1), 15955461 (1) (see all 13)
    nitrobenzylthioinosine 79 3 8751590 (1), 12522004 (1)
    purine nucleoside 78.2 10 9397178 (2), 7614470 (1), 10794412 (1), 15299191 (1) (see all 7)

    Search CenterWatch for drugs/clinical trials and news about ADK 

    (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,
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    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 ADK gene (4 alternative transcripts): 
    NM_001123.3  NM_001202449.1  NM_001202450.1  NM_006721.3  

    Unigene Cluster for ADK:

    Adenosine kinase
    Hs.656586  [show with all ESTs]
    Unigene Representative Sequence: NM_001123
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000286621 ENST00000478611 ENST00000372734(uc001jwi.3 uc010qlb.2 uc001jwj.3 uc010qlc.2)
    ENST00000467840 ENST00000539909 ENST00000541550

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    Additional cDNA sequence: 

    AK290633.1 AK301590.1 AK302706.1 BC003568.1 BT006788.1 U33936.1 U50196.1 U90338.1 
    U90339.1 

    17 DOTS entries:

    DT.99965206  DT.95173799  DT.445859  DT.100058614  DT.95173798  DT.100788637  DT.92453790  DT.100788634 
    DT.100788639  DT.100788630  DT.92453798  DT.95173797  DT.100691248  DT.121248629  DT.92453797  DT.99976560 
    DT.40206411 

    24/253 AceView cDNA sequences (see all 253):

    BQ225082 AI379720 BM827741 NM_006721 BU188464 AA430152 AI758448 CR597304 
    AA608621 BX099239 AA707009 BG029079 BG685314 AI050065 AI359490 CA439052 
    AW194936 BM761251 BQ774058 BX458939 NM_001123 BF115027 CB133126 BU632627 

    GeneLoc Exon Structure


    (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

    ADK expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TAATAAACTT

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

    About this image

    ADK expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    LiverLiver LobuleLiver
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

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

    SOURCE GeneReport for Unigene cluster: Hs.656586

    UniProtKB/Swiss-Prot: ADK_HUMAN, P55263
    Tissue specificity: Widely expressed. Highest level in placenta, liver, muscle and kidney

        SABiosciences Expression via Pathway-Focused PCR Array including ADK: 
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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ADK

    (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 ADK gene from 10/39 species (see all 39)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Adk1 , 5 adenosine kinase1, 5 89.44(n)1
    91.39(a)1
      14 (11.58 cM)5
    115341  NM_134079.41  NP_598840.11 
     210525745 
    chicken
    (Gallus gallus)
    Aves ADK1 adenosine kinase 82.12(n)
    84.64(a)
      423735  NM_001006501.1  NP_001006501.1 
    lizard
    (Anolis carolinensis)
    Reptilia ADK6
    --
    78(a)
    1 ↔ 1
    GL343196.1(2124515-2238031)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.284332 Xenopus laevis transcribed sequence with moderate similarity more 78.48(n)    CA789108.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.44082 Danio rerio mRNA similar to adenosine kinase (cDNA more 76.03(n)    BC063961.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG112551 , 3 adenosine kinase3
    CG112551
    52(a)
    (best of 2)3
    55.36(n)1
    52.8(a)1
      69F53
    394791  NM_140367.31  NP_648624.11 
    worm
    (Caenorhabditis elegans)
    Secernentea R07H5.81 , 3 adenosine kinase3
    Protein R07H5.81
    50(a)3
    55.75(n)1
    51.62(a)1
      IV(11209651-11210832)3
    1780281  NM_069703.51  NP_502104.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ADO1(YJR105W)4
    ADO11
    Adenosine kinase, required for the utilization of S-adenosylmethionine more4
    Ado1p1
    51.19(n)1
    41.43(a)1
      10(623581-624603)4
    8535691, 4  NP_012639.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons ADK11 adenosine kinase 1 60.26(n)
    57.99(a)
      820140  NM_111817.3  NP_187593.1 
    rice
    (Oryza sativa)
    Liliopsida AK101926.12   -- 73.83(n)    AK101926.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (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

    10/8180 NCBI SNPs in ADK are shown (see all 8180    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1133279241,2
    C,--69904592(+) GATCCG/ACCCGC 2 -- us2k13Minor allele frequency- A:0.04NA EA 242
    rs19083301,2
    C,H--69905292(-) ACAGCC/TTTATG 2 -- us2k15Minor allele frequency- T:0.00MN NS EA 604
    rs38291291,2
    C,F,H,--69905864(+) CTACCG/AAAGCT 2 -- us2k19Minor allele frequency- A:0.01MN EA NS NA 1794
    rs110008971,2
    C,F,A,H,--69906579(+) CTCTCC/AGTTTG 2 -- int118Minor allele frequency- A:0.13MN EA NS NA WA 3304
    rs108240831,2
    F,A,H,--69906645(+) TGGCCC/GGCAGG 2 -- int110Minor allele frequency- G:0.19MN EA NS NA WA 2000
    rs108240841,2
    C,A,--69906718(+) GAGGGT/CCGGAC 2 -- int15Minor allele frequency- C:0.23NA WA EA 362
    rs765342901,2
    C,--69907509(+) AGCAAC/GGGCTT 2 -- int13Minor allele frequency- G:0.04NA EA 242
    rs110008981,2
    H,--69908034(+) AGGATC/TGGCTA 2 -- int13Minor allele frequency- T:0.00EA NS 276
    rs2011781871,2
    C--69908112(-) ATCATA/TAATTC 2 -- int10--------
    rs618636141,2
    --69908200(+) AGCATC/TAGTGG 2 -- int11Minor allele frequency- T:0.50NA 2

    HapMap Linkage Disequilibrium report for ADK (75910960 - 76160960 bp, first 250kb of ADK)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 7 variations for ADK
         7 CNVs: 48631 53073 100983 100982 48039 100984 48630
    Human Gene Mutation Database (HGMD): ADK

    SABiosciences Cancer Mutation PCR Assays
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    (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

    ADK for disorders           About GeneDecksing

    OMIM gene information: 102750    OMIM disorders: --

    UniProtKB/Swiss-Prot: ADK_HUMAN, P55263
  • Defects in ADK are the cause of hypermethioninemia due to adenosine kinase deficiency (HMAKD) [MIM:614300]. A
  • metabolic disorder characterized by global developmental delay, early-onset seizures, mild dysmorphic features, and
    characteristic biochemical anomalies, including persistent hypermethioninemia with increased levels of
    S-adenosylmethionine and S-adenosylhomocysteine. Homocysteine levels are typically normal

    20/39 diseases for ADK (see all 39):    About MalaCards
    hypermethioninemia due to adenosine kinase deficiency    purine nucleoside phosphorylase deficiency    nucleoside phosphorylase deficiency    ischemia
    adenosine deaminase deficiency    seizures    temporal lobe epilepsy    hypermethioninemia
    chronic lymphocytic leukemia    intrahepatic cholangiocarcinoma    toxoplasmosis    lymphocytic leukemia
    metabolic disorders    cystic fibrosis    multiple myeloma    cholangiocarcinoma
    noma    myeloma    fibrosis    homocysteine

    1 disease from the University of Copenhagen DISEASES database for ADK:
    Adenosine deaminase deficiency

    10 Novoseek disease relationships for ADK gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    epilepsy 39.1 19 15930047 (3), 17056128 (3), 16059492 (1), 19682439 (1)
    toxoplasmosis 33.7 1 15055998 (1)
    tuberculosis 15.3 20 14594827 (6), 16511094 (4), 17346177 (2), 18329005 (2) (see all 8)
    ischemia 7.56 2 16444581 (1), 15050645 (1)
    inflammation 5.67 3 12787573 (1), 7527814 (1), 15050645 (1)
    anemia hemolytic 5.45 1 1646049 (1)
    hemolysis 0 1 16195898 (1)
    tumors 0 10 12817886 (2), 15299191 (1), 18726651 (1), 2154328 (1)
    carcinoma 0 1 2092181 (1)
    cancer 0 1 12817886 (1)

    Genetic Association Database (GAD): ADK
    Human Genome Epidemiology (HuGE) Navigator: ADK (7 documents)

    Export disorders for ADK 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 ADK gene, integrated from 9 sources (see all 224):
    (articles sorted by number of sources associating them with ADK)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning of human adenosine kinase cDNA: sequence similarity to microbial ribokinases and fructokinases. (PubMed id 8577746)1, 2, 3, 9 Spychala J.... Mitchell B.S. (1996)
    2. Cloning and characterization of cDNA for adenosine kinase from mammalian (Chinese hamster, mouse, human and rat) species. High frequency mutants of Chinese hamster ovary cells involve structural alterations in the gene. (PubMed id 8917457)1, 2, 9 Singh B.... Gupta R.S. (1996)
    3. Structure of human adenosine kinase at 1.5-A resolution. (PubMed id 9843365)1, 2, 9 Mathews I.I.... Ealick S.E. (1998)
    4. Cloning and expression of the adenosine kinase gene from rat and human tissues. (PubMed id 9070863)1, 2, 9 McNally T.... Halbert D.N. (1997)
    5. 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)
    6. Identification of the phosphotyrosine proteome from thrombin activated platelets. (PubMed id 12112843)1, 2 Maguire P.B....Fitzgerald D.J. (2002)
    7. Adenosine kinase, epilepsy and stroke: mechanisms and therapies. (PubMed id 17056128)7, 9 Boison D. (2006)
    8. Adenosine kinase and ribokinase--the RK family of proteins. (PubMed id 18560757)7, 9 Park J. and Gupta R.S. (2008)
    9. Phosphorylation of ribavirin and viramidine by adenosine kinase and cytosolic 5'-nucleotidase II: Implications for ribavirin metabolism in erythrocytes. (PubMed id 15917509)7, 9 Wu J.Z....Hong Z. (2005)
    10. Structural effects on the phosphorylation of 3-substituted 1-beta-D-ribofuranosyl-1,2,4-triazoles by human adenosine kinase. (PubMed id 17379518)7, 9 Kumarapperuma S.C....Arterburn J.B. (2007)

    (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: 132 HGNC: 257 AceView: ADK Ensembl:ENSG00000156110 euGenes: HUgn132
    ECgene: ADK Kegg: 132 H-InvDB: ADK

    (According to HUGE)
    About This Section
      --

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

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

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
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