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

AK1 Gene

protein-coding   GIFtS: 70
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)
About This Section

Aliases
Adenylate Kinase 11 2     EC 2.7.4.33 8
Adenylate Monophosphate Kinase2 3     Adenylate Kinase Isoenzyme 12
AK 12 3     myokinase2
ATP-AMP Transphosphorylase 12 3     Myokinase3
ATP:AMP Phosphotransferase2 3     EC 2.7.48

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

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 dystonia musculorum deformans, and hemolytic anemia due to adenylate kinase deficiency, and among its related super-pathways are Metabolic pathways and Purine metabolism. GO annotations related to this gene include ATP binding 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. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000009.11  NT_008470.19  NC_018920.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for AK1

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

UniProtKB/Swiss-Prot: KAD1_HUMAN, P00568 (See protein sequence)
Recommended Name: Adenylate kinase isoenzyme 1  
Size: 194 amino acids; 21635 Da
Subunit: Monomer
Subcellular location: Cytoplasm
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P00568

  • 4/9 DME Specific Peptides for AK1 (P00568) (see all 9)
     LIDGYPR  TQRLLKR  DDNEETI  YGYTHLS 

    AK1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    AK1 Protein Expression
    REFSEQ proteins: NP_000467.1  
    ENSEMBL proteins: 
     ENSP00000362271   ENSP00000449130   ENSP00000392314   ENSP00000362249   ENSP00000223836  
     ENSP00000448741  
    Reactome Protein details: P00568
    Human Recombinant Protein Products for AK1: 
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    OriGene MassSpec for AK1 
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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 

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    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



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    Cloud-Clone Corp. ELISAs for AK1 
    Cloud-Clone Corp. CLIAs for AK1


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

    3 InterPro protein domains:
     IPR027417 P-loop_NTPase
     IPR000850 Adenylate_kin
     IPR006267 Adenylate_kin1

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

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: KAD1_HUMAN, P00568
    Function: Catalyzes the reversible transfer of the terminal phosphate group between ATP and AMP. Plays an
    important role in cellular energy homeostasis and in adenine nucleotide metabolism
    Catalytic activity: ATP + AMP = 2 ADP

         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 2.7.42

         Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    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 - Custom generated mouse model solutions for AK1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions 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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    8/19 QIAGEN miScript miRNA 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
    Products:
        
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    Gene Editing
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    Clone
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    GenScript: all cDNA clones in your preferred vector: AK1 (NM_000476)
    Browse Sino Biological Human cDNA Clones
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AK1


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for AK1 About   (see all 8)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Metabolism
    Metabolism0.40
    Metabolic pathways0.40
    2Purine metabolism
    Purine metabolism0.38
    ATP/ITP metabolism0.31
    3adenosine ribonucleotides de novo biosynthesis
    adenosine ribonucleotides de novo biosynthesis0.49
    superpathway of purine nucleotides de novo biosynthesis I0.49
    4G-protein signaling G-Protein alpha-i signaling cascades
    G-protein signaling G-Protein alpha-s signaling cascades0.44
    5Purine metabolism
    Metabolism of nucleotides0.42

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 EMD Millipore Pathways for AK1
        G-protein signaling G-Protein alpha-s signaling cascades
    ATP/ITP metabolism

    2 Downloadable PowerPoint Slides of QIAGEN 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

    2 BioSystems Pathways for AK1
        superpathway of purine nucleotides de novo biosynthesis I
    adenosine ribonucleotides de novo biosynthesis


    3        Reactome Pathways for AK1
        Metabolism of nucleotides
    Synthesis and interconversion of nucleotide di- and triphosphates
    Metabolism


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


    AK1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for AK1

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

    5/62 Interacting proteins for AK1 (P005683 ENSP000003622494) via UniProtKB, MINT, STRING, and/or I2D (see all 62)
    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): 5/8 biological process terms (GO ID links to tree view) (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 HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    AK1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    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

    10/14 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)

    Search CenterWatch for drugs/clinical trials and news about AK1 / KAD1

    (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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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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    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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      QIAGEN 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 

    24/583 AceView cDNA sequences (see all 583):

    BI838391 W94376 BM141809 CR592171 AA992533 BM999325 F29391 BX119193 
    BQ129959 BM982541 BM662468 BP362195 BX475470 AI884712 BG751833 AB035173 
    AI686021 BM545641 BE313808 CA420765 AI833295 BM917106 AW963484 BM674642 

    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™, 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

    AK1 expression in normal human tissues (normalized intensities)      AK1 embryonic expression: see
    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 
     5/2 selected tissues (see all 2) fully expand
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 3 entries
             gastrocnemius muscle   
     
     Heart (Cardiovascular System)    fully expand to see all 2 entries
             Primitive Heart Tube Cells Primitive Heart Tube
             Heart Tube

     -- (Muscoskeletal System)
             muscle   

    See AK1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for AK1

    SOURCE GeneReport for Unigene cluster: Hs.175473
        SABiosciences Custom PCR Arrays for AK1
    Primer
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    QIAGEN 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)
    About This Section

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

    Orthologs for AK1 gene from 8/18 species (see all 18)    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_205109.1  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
    56.32(n)1
    50.53(a)1
      69A23
    393961  NM_168493.11  NP_729792.11 
    worm
    (Caenorhabditis elegans)
    Secernentea F38B2.41 , 3 adenylate kinase3
    Protein F38B2.41
    59(a)3
    57.88(n)1
    59.89(a)1
      X(11321946-11322944)3
    1813171  NM_077483.41  NP_509884.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes URA66
    Uridylate kinase, catalyzes the seventh enzymatic ...
    39(a)
    1 → many
    XI(392526-393140)


    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)
    About This Section
    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) 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

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


    10/378 SNPs in AK1 are shown (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--------
    VAR_0040214
    Hemolytic anemia due to adenylate kinase deficiency (HAAKD)4--see VAR_0040212 R W 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) 10/13 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
    SABiosciences Cancer Mutation 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, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    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

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

    PubMed articles for AK1 gene, integrated from 9 sources (see all 97):
    (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. (2008)
    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. (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. (2003)
    4. A case of complete adenylate kinase deficiency due to a nonsense mutation in AK-1 gene (Arg 107 --> Stop, CGA --> TGA) associated with chronic haemolytic anaemia. (PubMed id 10233365)1, 4 Bianchi P....Zanella A. (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. (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. (1989)
    7. Primary and tertiary structure of the principal human adenylate kinase. (PubMed id 183954)1, 2 von Zabern I....Pai E.F. (1976)
    8. wt p53 dependent expression of a membrane-associated isoform of adenylate kinase. (PubMed id 10557075)1, 9 Collavin L....Schneider C. (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. (1998)
    10. Ak(1) genetic polymorphism and season of conception. (PubMed id 23146316)1 Gloria-Bottini F....Magrini A. (2013)

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

    (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 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.)
    About This Section
    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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    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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