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AK1 Gene

protein-coding   GIFtS: 71
GCID: GC09M130628

Adenylate Kinase 1

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Adenylate Kinase 11 2     Adenylate Kinase Isoenzyme 12
Adenylate Monophosphate Kinase2 3     myokinase2
AK 12 3     Testis Secretory Sperm Binding Protein Li 58j2
ATP-AMP Transphosphorylase 12 3     EC 2.7.4.63
ATP:AMP Phosphotransferase2 3     Myokinase3
EC 2.7.4.33 8     EC 2.7.48
HTL-S-58j2     

External Ids:    HGNC: 3611   Entrez Gene: 2032   Ensembl: ENSG000001069927   OMIM: 1030005   UniProtKB: P005683   

Export aliases for AK1 gene to outside databases

Previous GC identifers: GC09M121743 GC09M122275 GC09M124082 GC09M126004 GC09M127708 GC09M129668 GC09M100246


(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 AK1 Gene:
Adenylate kinase is an enzyme involved in regulating the adenine nucleotide composition within a cell by
catalyzing the reversible transfer of phosphate group among adinine nucleotides. Three isozymes of adenylate
kinase have been identified in vertebrates, adenylate isozyme 1 (AK1), 2 (AK2) and 3 (AK3). AK1 is found in the
cytosol of skeletal muscle, brain and erythrocytes, whereas AK2 and AK3 are found in the mitochondria of other
tissues including liver and heart. AK1 was identified because of its association with a rare genetic disorder
causing nonspherocytic hemolytic anemia where a mutation in the AK1 gene was found to reduce the catalytic
activity of the enzyme. (provided by RefSeq, Jul 2008)

GeneCards Summary for AK1 Gene:
AK1 (adenylate kinase 1) is a protein-coding gene. Diseases associated with AK1 include hemolytic anemia due to adenylate kinase deficiency, and dystonia musculorum deformans. GO annotations related to this gene include nucleoside diphosphate kinase activity and adenylate kinase activity. An important paralog of this gene is AK5.

UniProtKB/Swiss-Prot: KAD1_HUMAN, P00568
Function: Catalyzes the reversible transfer of the terminal phosphate group between ATP and AMP. Also displays
broad nucleoside diphosphate kinase activity. Plays an important role in cellular energy homeostasis and in
adenine nucleotide metabolism




(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_000009.12  NT_008470.20  NC_018920.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the AK1 gene promoter:
         c-Fos   p53   AP-2alpha isoform 3   AP-1   AP-2alpha isoform 2   AP-2alpha isoform 4   c-Jun   AP-2alpha   AP-2alphaA   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidAK1 promoter sequence
   Search Chromatin IP Primers for AK1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat AK1


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

Entrez Gene cytogenetic band: 9q34.1   Ensembl cytogenetic band:  9q34.11   HGNC cytogenetic band: 9q34.1

AK1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
AK1 gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09M130628:  view genomic region     (about GC identifiers)

Start:
130,628,759 bp from pter      End:
130,640,022 bp from pter
Size:
11,264 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, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: KAD1_HUMAN, P00568 (See protein sequence)
Recommended Name: Adenylate kinase isoenzyme 1  
Size: 194 amino acids; 21635 Da
Subunit: Monomer
2 PDB 3D structures from and Proteopedia for AK1:
1Z83 (3D)        2C95 (3D)    
Secondary accessions: Q9BVK9 Q9UQC7

Explore the universe of human proteins at neXtProt for AK1: NX_P00568

Explore proteomics data for AK1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys31
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for AK1 (P00568) (see all 9)
     LIDGYPR  TQRLLKR  DDNEETI  YGYTHLS 


    See AK1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000467.1  
    ENSEMBL proteins: 
     ENSP00000362271   ENSP00000449130   ENSP00000392314   ENSP00000362249   ENSP00000223836  
     ENSP00000448741  
    Reactome Protein details: P00568

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    Novus Biologicals AK1 Proteins
    Novus Biologicals AK1 Lysates
    Sino Biological Recombinant Protein for AK1
    Browse Sino Biological Cell Lysates
    ProSpec Recombinant Protein for AK1
    Cloud-Clone Corp. Proteins for AK1

    AK1 Antibody Products:

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    AK1 Assay Products:

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    Cloud-Clone Corp. CLIAs for AK1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    AK: Adenylate kinases

    4 InterPro protein domains:
     IPR000850 Adenylat/UMP-CMP_kin
     IPR028582 AK1
     IPR027417 P-loop_NTPase
     IPR006267 AK1/5

    Graphical View of Domain Structure for InterPro Entry P00568

    ProtoNet protein and cluster: P00568

    1 Blocks protein domain: IPB000850 Adenylate kinase

    UniProtKB/Swiss-Prot: KAD1_HUMAN, P00568
    Domain: Consists of three domains, a large central CORE domain and two small peripheral domains, NMPbind and LID,
    which undergo movements during catalysis. The LID domain closes over the site of phosphoryl transfer upon ATP
    binding. Assembling and dissambling the active center during each catalytic cycle provides an effective means to
    prevent ATP hydrolysis
    Similarity: Belongs to the adenylate kinase family. AK1 subfamily


    AK1 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: KAD1_HUMAN, P00568
    Function: Catalyzes the reversible transfer of the terminal phosphate group between ATP and AMP. Also displays
    broad nucleoside diphosphate kinase activity. Plays an important role in cellular energy homeostasis and in
    adenine nucleotide metabolism
    Catalytic activity: ATP + AMP = 2 ADP
    Catalytic activity: ATP + nucleoside diphosphate = ADP + nucleoside triphosphate

         Genatlas biochemistry entry for AK1:
    adenylate kinase 1,cytosolic,expressed in erythrocyte,skeletal muscle,brain, responsible of the phosphorylation of
    AMP in RBC and production of ADP,adenine nucleotide catabolic pathway and guanine nucleotide pools homeostasis

         Enzyme Numbers (IUBMB): EC 2.7.4.31 2 EC 2.7.4.61 EC 2.7.42

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004017adenylate kinase activity IEA--
    GO:0004550nucleoside diphosphate kinase activity IDA--
    GO:0005524ATP binding IEA--
    GO:0016301kinase activity ----
    GO:0019205nucleobase-containing compound kinase activity ----
         
    AK1 for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for AK1:
     Decreased TP53 protein express  Gemcitabine induced cell-death  Increased HPV18 LCR reporter a 

         4 MGI mutant phenotypes (inferred from 1 allele(MGI details for Ak1):
     cardiovascular system  cellular  homeostasis/metabolism  muscle 

    AK1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Ak1tm1Bew for AK1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for AK1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for AK1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for AK1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for AK1

    miRNA
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    miRTarBase miRNAs that target AK1:
    hsa-mir-769-5p (MIRT039155), hsa-mir-17-5p (MIRT051000)

    Block miRNA regulation of human, mouse, rat AK1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate AK1 (see all 19):
    hsa-miR-520f hsa-miR-185* hsa-miR-29a hsa-miR-29c hsa-miR-512-3p hsa-miR-570 hsa-miR-3180-3p hsa-miR-4283
    SwitchGear 3'UTR luciferase reporter plasmidAK1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat AK1

    Gene Editing
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    Clone
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    GenScript: all cDNA clones in your preferred vector: AK1 (NM_000476)
    Sino Biological Human cDNA Clone for AK1
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AK1

    Cell Line
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AK1


    (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
    KAD1_HUMAN, P00568: Cytoplasm
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    cytoskeleton2
    mitochondrion2
    plasma membrane2

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001520outer dense fiber IEA--
    GO:0005737cytoplasm IDA--
    GO:0005829cytosol TAS--
    GO:0005886plasma membrane IEA--
    GO:0036126sperm flagellum IEA--

    AK1 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 AK1 About   (see all 7)  
    See pathways by source

    SuperPathContained pathways About
    1Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    2Purine metabolism (KEGG)
    Purine metabolism0.38
    ATP ITP metabolism0.31
    3purine nucleotide salvage
    purine nucleotide salvage0.78
    adenosine ribonucleotides de novo biosynthesis0.51
    purine nucleotides de novo biosynthesis0.78
    4Purine metabolism (REACTOME)
    Metabolism of nucleotides0.42
    Synthesis and interconversion of nucleotide di- and triphosphates0.00
    5G protein signaling G Protein alpha i signaling cascades
    G protein signaling G Protein alpha s signaling cascades0.44

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for AK1
        Cholera Infection
    AMPK Enzyme Complex Pathway

    2 GeneGo (Thomson Reuters) Pathways for AK1
        G-protein signaling G-Protein alpha-s signaling cascades
    ATP/ITP metabolism

    3 BioSystems Pathways for AK1
        purine nucleotides de novo biosynthesis
    purine nucleotide salvage
    adenosine ribonucleotides de novo biosynthesis


    1 Reactome Pathway for AK1
        Synthesis and interconversion of nucleotide di- and triphosphates


    2 Kegg Pathways  (Kegg details for AK1):
        Purine metabolism
    Metabolic pathways


    AK1 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for AK1
    Interactions:

        Search GeneGlobe Interaction Network for AK1

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

    Selected Interacting proteins for AK1 (P005683 ENSP000003622494) via UniProtKB, MINT, STRING, and/or I2D (see all 69)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    KMT2CQ8NEZ43, ENSP000002621894I2D: score=2 STRING: ENSP00000262189
    TRIM63Q969Q13, ENSP000003633904I2D: score=1 STRING: ENSP00000363390
    FHL2Q141923, ENSP000003229094I2D: score=3 STRING: ENSP00000322909
    AKT1P317493I2D: score=1 
    CSF1P096033I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006139nucleobase-containing compound metabolic process ----
    GO:0006165nucleoside diphosphate phosphorylation IDA--
    GO:0007050cell cycle arrest IEA--
    GO:0009142nucleoside triphosphate biosynthetic process IDA--
    GO:0015949nucleobase-containing small molecule interconversion TAS--

    AK1 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 AK1 (KAD1)

    5 HMDB Compounds for AK1    About this table
    CompoundSynonyms CAS #PubMed Ids
    ADPadenosindiphosphorsaeure (see all 8)58-64-0--
    Adenosine monophosphate5'-AMP (see all 28)61-19-8--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    Deoxyadenosine monophosphate2'-Deoxy-5'-adenylate (see all 24)653-63-4--
    dADP2'-deoxyadenosine-5'-diphosphate (see all 3)2793-06-8--

    1 DrugBank Compound for AK1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Bis(Adenosine)-5'-Pentaphosphate-- --target--17139284 17016423

    Selected Novoseek inferred chemical compound relationships for AK1 gene (see all 14)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    ddamp 90.8 1 7945403 (1)
    adenylate 79.8 39 17704060 (2), 2018038 (2), 2168054 (2), 18446060 (2) (see all 28)
    6-phosphogluconate 71 3 2129617 (1), 2129611 (1), 9463796 (1)
    prpp 58.4 2 7945403 (1)
    adp 51.3 7 1470606 (1), 9239671 (1), 17242488 (1), 1369982 (1) (see all 5)
    citrate 48.4 5 9694316 (1), 2289498 (1), 1400042 (1), 8036909 (1) (see all 5)
    phosphocreatine 47.9 4 9239671 (1), 2082717 (1), 11735686 (1)
    atp 43.6 13 18446060 (3), 1470606 (1), 17704060 (1), 9239671 (1) (see all 7)
    creatinine 36.4 7 9925374 (1), 11006295 (1), 2289498 (1), 2082717 (1) (see all 6)
    lactate 33.3 5 1455165 (1), 2289498 (1), 1400042 (1), 8036909 (1) (see all 5)



    AK1 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,
    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 AK1 gene: 
    NM_000476.2  

    Unigene Cluster for AK1:

    Adenylate kinase 1
    Hs.175473  [show with all ESTs]
    Unigene Representative Sequence: NM_000476
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000373176(uc004bsm.4) ENST00000550143 ENST00000413016 ENST00000373156
    ENST00000223836 ENST00000550992
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate AK1 (see all 19):
    hsa-miR-520f hsa-miR-185* hsa-miR-29a hsa-miR-29c hsa-miR-512-3p hsa-miR-570 hsa-miR-3180-3p hsa-miR-4283
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      QuantiTect SYBR Green Assays in human, mouse, rat AK1
      QuantiFast Probe-based Assays in human, mouse, rat AK1

    Additional mRNA sequence: 

    AB021871.1 AK223501.1 AK313758.1 BC001116.2 BC100022.1 BT019580.1 CR541977.1 CR542004.1 

    13 DOTS entries:

    DT.100730360  DT.100790419  DT.218227  DT.91966343  DT.95149471  DT.115492  DT.95149458  DT.100790420 
    DT.121209927  DT.40220836  DT.92471369  DT.75176378  DT.91758063 

    Selected AceView cDNA sequences (see all 583):

    AI471209 BM739235 BP362196 T11171 AA992533 BP362195 AU102582 CD365075 
    AA401021 BM547386 CA428733 AI341125 AI884712 BG751833 BQ953448 BM917106 
    BM674642 BU167789 BE313808 CR599905 AI833295 N91906 AA631095 BQ181606 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for AK1    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b ^ 8
    SP1:              -     -                                       
    SP2:              -     -                                       
    SP3:              -                                             
    SP4:                    -                                       


    ECgene alternative splicing isoforms for AK1

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

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    AK1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GACAGCTGAG
    AK1 Expression
    About this image


    AK1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 10) fully expand
     
     Heart (Cardiovascular System)    fully expand to see all 3 entries
             Primitive Heart Tube Cells Primitive Heart Tube
             Heart Tube
     
     Brain (Nervous System)
             Cerebral Cortex
     
     Thyroid (Endocrine System)
     
     Lung (Respiratory System)
     
     Ovary (Reproductive System)
    AK1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    AK1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.175473
        Custom PCR Arrays for AK1
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    QuantiFast Probe-based Assays in human, mouse, rat AK1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AK1

    (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 AK1 gene from Selected species (see all 20)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ak11 , 5 adenylate kinase 11, 5 85.59(n)1
    88.54(a)1
      2 (22.09 cM)5
    116361  NM_021515.31  NP_067490.11 
     326217585 
    chicken
    (Gallus gallus)
    Aves AK11 adenylate kinase 1 78.71(n)
    84.29(a)
      396002  NM_205109.2  NP_990440.1 
    lizard
    (Anolis carolinensis)
    Reptilia AK16
    adenylate kinase 1
    70(a)
    1 ↔ 1
    AAWZ02036994(5714-16823)
    African clawed frog
    (Xenopus laevis)
    Amphibia BQ733375.12   -- 73.34(n)    BQ733375.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.142832 Transcribed sequence with moderate similarity to protein more 75.41(n)    CF998824.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Adk11 , 3 adenylate kinase3
    Adenylate kinase-11
    48(a)3
    56.23(n)1
    50(a)1
      69A23
    393961  NM_168493.21  NP_729792.11 
    worm
    (Caenorhabditis elegans)
    Secernentea F38B2.41 , 3 adenylate kinase3
    F38B2.41
    59(a)3
    57.88(n)1
    59.89(a)1
      X(11321946-11322944)3
    1813171  NM_001270212.11  NP_001257141.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes URA66
    Uridylate kinase, catalyzes the seventh enzymatic ...
    40(a)
    1 → many
    XI(392526-393140) YKL024C
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT4G252801 AT4G25280 48.66(n)
    41.18(a)
      828631  NM_118660.2  NP_194258.2 


    ENSEMBL Gene Tree for AK1 (if available)
    TreeFam Gene Tree for AK1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for AK1 gene
    AK52  CMPK12  
    4 SIMAP similar genes for AK1 using alignment to 6 protein entries:     KAD1_HUMAN (see all proteins):
    AK5    CMPK1    CMPK    AK2

    AK1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for AK1
    PGOHUM00000234471


    (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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    Polymorphic Variants from UniProtKB/Swiss-Prot
    KAD1_HUMAN, P00568: This enzyme represents the most common of at least five alleles


    Selected SNPs for AK1 (see all 378)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0553374
    Hemolytic anemia due to adenylate kinase deficiency (HAAKD)4--see VAR_0553372 G R mis40--------
    VAR_0553384
    Hemolytic anemia due to adenylate kinase deficiency (HAAKD)4--see VAR_0553382 G R mis40--------
    VAR_0553404
    Hemolytic anemia due to adenylate kinase deficiency (HAAKD)4--see VAR_0553402 Y C mis40--------
    rs289309741,2,4
    Hemolytic anemia due to adenylate kinase deficiency (HAAKD)4--see VAR_0040212 mis40--------
    rs1048941011,2
    Cpathogenic1130643884(-) CCCAGC/TGGCTC 2 R W mis10--------
    rs1048941021,2
    Cpathogenic1130647258(-) TTGAGC/TGACGG 2 R * stg10--------
    rs1378532041,2
    Cpathogenic1130648209(-) CCACCA/GGGGAC 2 R G mis10--------
    rs3698325611,2
    C--130628379(+) GGTGA-/GT/TG 
            
    GTGTA
    1 -- ds50010--------
    rs598512931,2
    C--130633095(+) ATGGG-/AATGG 
    GGCATGGG
    GATGG
    1 -- int10--------
    rs2020105391,2
    C--130637231(-) CCTCGG/TTGCCA 1 -- int10--------

    HapMap Linkage Disequilibrium report for AK1 (130628759 - 130640022 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for AK1 (see all 13):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2739054CNV Deletion23290073
    dgv1377e199CNV Deletion23128226
    dgv8291n71CNV Loss21882294
    dgv8290n71CNV Loss21882294
    nsv893865CNV Loss21882294
    dgv8287n71CNV Loss21882294
    dgv8293n71CNV Loss21882294
    nsv466575CNV Loss19166990
    dgv497n21CNV Loss19592680
    nsv893874CNV Loss21882294

    Human Gene Mutation Database (HGMD): AK1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing AK1
    DNA2.0 Custom Variant and Variant Library Synthesis for AK1

    (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.)
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    OMIM gene information: 103000   
    OMIM disorders: 612631  
    UniProtKB/Swiss-Prot: KAD1_HUMAN, P00568
  • Hemolytic anemia due to adenylate kinase deficiency (HAAKD) [MIM:612631]: A disease characterized by
    hemolytic anemia and undetectable erythrocyte adenylate kinase activity. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • 20 diseases for AK1:    
    About MalaCards
    hemolytic anemia due to adenylate kinase deficiency    dystonia musculorum deformans    hemolytic anemia    reticular dysgenesis
    familial dystonia    nail-patella syndrome    morbid obesity    tuberous sclerosis
    cholera    obesity    retinoblastoma    cervical cancer
    ischemia    cervicitis    schizophrenia    hypertension
    multiple myeloma    malaria    myeloma    endotheliitis

    3 diseases from the University of Copenhagen DISEASES database for AK1:
    nail-patella syndrome     Dystonia musculorum deformans     Familial dystonia

    AK1 for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for AK1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tumors 0 1 15717328 (1)

    Genatlas disease: AK1
    hemolytic anemia

    Genetic Association Database (GAD): AK1
    Human Genome Epidemiology (HuGE) Navigator: AK1 (1 document)

    Export disorders for AK1 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 AK1 gene, integrated from 10 sources (see all 99):
    (articles sorted by number of sources associating them with AK1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Smoking and human reproduction: the effect of adenylate kinase genetic polymorphism. (PubMed id 18850517)1, 4 Gloria-Bottini F....Bottini E. (Am J Perinatol 2009)
    2. 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)
    3. Red cell adenylate kinase deficiency: molecular study of 3 new mutations (118G>A, 190G>A, and GAC deletion) associated with hereditary nonspherocytic hemolytic anemia. (PubMed id 12649162)1, 2 Corrons J.-L....Beutler E. (Blood 2003)
    4. A case of complete adenylate kinase deficiency due to a nonsense mutation in AK-1 gene (Arg 107 --&gt; Stop, CGA --&gt; TGA) associated with chronic haemolytic anaemia. (PubMed id 10233365)1, 4 Bianchi P....Zanella A. (Br. J. Haematol. 1999)
    5. Severe erythrocyte adenylate kinase deficiency due to homozygous A-->G substitution at codon 164 of human AK1 gene associated with chronic haemolytic anaemia. (PubMed id 9432020)2, 4 Qualtieri A.... Brancati C. (Br. J. Haematol. 1997)
    6. Human adenylate kinase deficiency associated with hemolytic anemia. A single base substitution affecting solubility and catalytic activity of the cytosolic adenylate kinase. (PubMed id 2542324)1, 2 Matsuura S.... Nakazawa A. (J. Biol. Chem. 1989)
    7. Primary and tertiary structure of the principal human adenylate kinase. (PubMed id 183954)1, 2 von Zabern I....Pai E.F. (Eur. J. Biochem. 1976)
    8. wt p53 dependent expression of a membrane-associated isoform of adenylate kinase. (PubMed id 10557075)1, 9 Collavin L....Schneider C. (Oncogene 1999)
    9. Cloning and expression of human adenylate kinase 2 isozymes: differential expression of adenylate kinase 1 and 2 in human muscle tissues. (PubMed id 9504408)1, 9 Lee Y.... Choe I.S. (J. Biochem. 1998)
    10. The human adenylate kinase 9 is a nucleoside mono- and diphosphate kinase. (PubMed id 23416111)2 Amiri M....Solaroli N. (amp 2013)

    (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: 203 HGNC: 361 AceView: AK1andSIAT7F Ensembl:ENSG00000106992 euGenes: HUgn203
    ECgene: AK1 Kegg: 203 H-InvDB: AK1

    (According to HUGE)
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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 AK1 Pharmacogenomics, SNPs, Pathways
    Wikipedia http://en.wikipedia.org/wiki/Adenylate_kinase

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for AK1 gene:
    Search GeneIP for patents involving AK1

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



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