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AK5 Gene

protein-coding   GIFtS: 62
GCID: GC01P077747

Adenylate Kinase 5

  See AK5-related disease
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 51 2     Adenylate Kinase 62
AK 52 3     Adenylate Kinase Isoenzyme 52
ATP-AMP Transphosphorylase 52 3     EC 2.7.4.33
AK62     EC 2.7.4.63

External Ids:    HGNC: 3651   Entrez Gene: 262892   Ensembl: ENSG000001540277   OMIM: 6080095   UniProtKB: Q9Y6K83   

Export aliases for AK5 gene to outside databases

Previous GC identifers: GC01P078086 GC01P076692 GC01P077152 GC01P077170 GC01P077459 GC01P075878


(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 AK5 Gene:
This gene encodes a member of the adenylate kinase family, which is involved in regulating the adenine nucleotide
composition within a cell by catalyzing the reversible transfer of phosphate groups among adenine nucleotides.
This member is related to the UMP/CMP kinase of several species. It is located in the cytosol and expressed
exclusively in brain. Alternatively spliced transcript variants encoding distinct isoforms have been identified
for this gene. (provided by RefSeq, Jul 2008)

GeneCards Summary for AK5 Gene:
AK5 (adenylate kinase 5) is a protein-coding gene. Diseases associated with AK5 include limbic encephalitis. GO annotations related to this gene include cAMP-dependent protein kinase regulator activity and adenylate kinase activity. An important paralog of this gene is AK1.

UniProtKB/Swiss-Prot: KAD5_HUMAN, Q9Y6K8
Function: Nucleoside monophosphate (NMP) kinase that catalyzes the reversible transfer of the terminal phosphate
group between nucleoside triphosphates and monophosphates. Active on AMP and dAMP with ATP as a donor. When GTP
is used as phosphate donor, the enzyme phosphorylates AMP, CMP, and to a small extent dCMP. Also displays broad
nucleoside diphosphate kinase activity




(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 at NCBI GenBank:
NC_000001.10  NT_032977.10  NC_018912.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the AK5 gene promoter:
         AREB6   Pax-5   NF-kappaB2   NF-kappaB1   NF-kappaB   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidAK5 promoter sequence
   Search Chromatin IP Primers for AK5

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat AK5


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

Entrez Gene cytogenetic band: 1p31   Ensembl cytogenetic band:  1p31.1   HGNC cytogenetic band: 1p31

AK5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
AK5 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P077747:  view genomic region     (about GC identifiers)

Start:
77,747,662 bp from pter      End:
78,025,654 bp from pter
Size:
277,993 bases      Orientation:
plus 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, 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: KAD5_HUMAN, Q9Y6K8 (See protein sequence)
Recommended Name: Adenylate kinase isoenzyme 5  
Size: 562 amino acids; 63333 Da
Subunit: Monomer (By similarity)
1 PDB 3D structure from and Proteopedia for AK5:
2BWJ (3D)    
Secondary accessions: Q5U622 Q6FH66 Q7Z4T5 Q86YS0 Q8N464 Q96EC9
Alternative splicing: 3 isoforms:  Q9Y6K8-1   Q9Y6K8-2   Q9Y6K8-3   (It is unsure whether Met-1 or Met-5 is the initiator)

Explore the universe of human proteins at neXtProt for AK5: NX_Q9Y6K8

Explore proteomics data for AK5 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See AK5 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_036225.2  NP_777283.1  

    ENSEMBL proteins: 
     ENSP00000346577   ENSP00000341430   ENSP00000434409   ENSP00000436859   ENSP00000433915  
    Reactome Protein details: Q9Y6K8

    AK5 Human Recombinant Protein Products:

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    (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:
     IPR003117 cAMP_dep_PK_reg_su_I/II_a/b
     IPR000850 Adenylat/UMP-CMP_kin
     IPR027417 P-loop_NTPase
     IPR006267 AK1/5

    Graphical View of Domain Structure for InterPro Entry Q9Y6K8

    ProtoNet protein and cluster: Q9Y6K8

    1 Blocks protein domain: IPB000850 Adenylate kinase

    UniProtKB/Swiss-Prot: KAD5_HUMAN, Q9Y6K8
    Similarity: Belongs to the adenylate kinase family


    Find genes that share domains with AK5           About GenesLikeMe


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

         UniProtKB/Swiss-Prot Summary: KAD5_HUMAN, Q9Y6K8
    Function: Nucleoside monophosphate (NMP) kinase that catalyzes the reversible transfer of the terminal phosphate
    group between nucleoside triphosphates and monophosphates. Active on AMP and dAMP with ATP as a donor. When GTP
    is used as phosphate donor, the enzyme phosphorylates AMP, CMP, and to a small extent dCMP. Also displays broad
    nucleoside diphosphate kinase activity
    Catalytic activity: ATP + AMP = 2 ADP
    Catalytic activity: ATP + nucleoside diphosphate = ADP + nucleoside triphosphate

         Genatlas biochemistry entry for AK5:
    adenylate kinase 5,located in the cytosol,expressed exclusively in brain

         Enzyme Numbers (IUBMB): EC 2.7.4.61 EC 2.7.4.31

         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:0019205nucleobase-containing compound kinase activity ----
    GO:0019206nucleoside kinase activity EXP--
         
    Find genes that share ontologies with AK5           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for AK5:
     Increased Salmonella enterica   Increased apoptosis 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for AK5
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    hsa-miR-4303 hsa-miR-3166 hsa-miR-520a-5p hsa-miR-888* hsa-miR-525-5p hsa-miR-494 hsa-miR-302f hsa-miR-493*
    SwitchGear 3'UTR luciferase reporter plasmidAK5 3' UTR sequence
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    KAD5_HUMAN, Q9Y6K8: Cytoplasm
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton4
    cytosol4
    golgi apparatus1
    mitochondrion1
    nucleus1
    peroxisome1
    plasma membrane1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA--
    GO:0005813centrosome ----
    GO:0005815microtubule organizing center IDA--
    GO:0005829cytosol TAS--

    Find genes that share ontologies with AK5           About GenesLikeMe


    (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 AK5 About   (see all 7)  
    See pathways by source

    SuperPathContained pathways About
    1Purine metabolism (KEGG)
    Purine metabolism0.38
    purine deoxyribonucleosides salvage0.00
    ATP ITP metabolism0.31
    2Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    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


    Find genes that share SuperPaths with AK5           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for AK5
        Cholera Infection
    AMPK Enzyme Complex Pathway

    2 GeneGo (Thomson Reuters) Pathways for AK5
        G-protein signaling G-Protein alpha-s signaling cascades
    ATP/ITP metabolism

    4 BioSystems Pathways for AK5
        purine nucleotides de novo biosynthesis
    purine deoxyribonucleosides salvage
    purine nucleotide salvage
    adenosine ribonucleotides de novo biosynthesis

    1 Reactome Pathway for AK5
        Synthesis and interconversion of nucleotide di- and triphosphates


    2 Kegg Pathways  (Kegg details for AK5):
        Purine metabolism
    Metabolic pathways

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for AK5
    Interactions:

        Search GeneGlobe Interaction Network for AK5

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

    Selected Interacting proteins for AK5 (Q9Y6K83 ENSP000003465774) via UniProtKB, MINT, STRING, and/or I2D (see all 69)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    BUD13Q9BRD03I2D: score=5 
    C7orf26Q96N113I2D: score=4 
    CPNE6O957413I2D: score=4 
    NUCKS1Q9H1E33I2D: score=4 
    RNF114Q9Y5083I2D: score=4 
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006139nucleobase-containing compound metabolic process ----
    GO:0006165nucleoside diphosphate phosphorylation IDA--
    GO:0006172ADP biosynthetic process TAS10215863
    GO:0006173dADP biosynthetic process TAS10215863
    GO:0009142nucleoside triphosphate biosynthetic process IDA--

    Find genes that share ontologies with AK5           About GenesLikeMe



    (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 AK5 (KAD5)

    6 HMDB Compounds for AK5    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--
    Guanosine triphosphate5'-GTP (see all 10)86-01-1--
    dADP2'-deoxyadenosine-5'-diphosphate (see all 3)2793-06-8--

    1 Novoseek inferred chemical compound relationship for AK5 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    adenylate 62.8 7 19647735 (2), 17462746 (2), 20035430 (1), 18793766 (1) (see all 6)



    Find genes that share compounds with AK5           About GenesLikeMe



    (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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for AK5 gene (2 alternative transcripts): 
    NM_012093.3  NM_174858.2  

    Unigene Cluster for AK5:

    Adenylate kinase 5
    Hs.559718  [show with all ESTs]
    Unigene Representative Sequence: NM_012093
    13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000354567(uc001dhn.3) ENST00000317704(uc001dhm.2) ENST00000344720(uc001dho.3)
    ENST00000478407 ENST00000469394 ENST00000466114 ENST00000524494 ENST00000465146
    ENST00000530826 ENST00000527263 ENST00000478255 ENST00000466393 ENST00000531672

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    hsa-miR-4303 hsa-miR-3166 hsa-miR-520a-5p hsa-miR-888* hsa-miR-525-5p hsa-miR-494 hsa-miR-302f hsa-miR-493*
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    Additional mRNA sequence: 

    AF062595.1 AF445193.1 AK090967.1 AK127119.1 AY171600.2 BC012467.2 BC033896.1 BC036666.1 
    CR541890.1 

    13 DOTS entries:

    DT.100752390  DT.40131945  DT.86852643  DT.86852644  DT.95288555  DT.101967524  DT.101956187  DT.92428135 
    DT.92031837  DT.92428134  DT.92428136  DT.95156699  DT.95268081 

    Selected AceView cDNA sequences (see all 89):

    BG253115 BU627320 NM_012093 BM825361 BM853550 BC012467 CR541890 R34922 
    NM_174858 BQ014349 AA448527 AI990820 BF056865 AI336847 AA319811 BM793599 
    AL526784 AI656310 BC036666 AY171600 CK024190 AA398626 AX746708 AK127119 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for AK5    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b
    SP1:        -           -                                   -                                                               
    SP2:                    -                                   -                                                               
    SP3:        -           -     -                                                                                             
    SP4:                                                                                                                        


    ECgene alternative splicing isoforms for AK5

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    AK5 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    AK5 Expression
    About this image


    AK5 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 2 entries
             Human embryonic stem cells (family)
     
     Epithelial Cells
             Mature Retinal Pigmented Epithelium Cells Retinal Pigmented Epithelium
     
     Eye (Sensory Organs)
             Mature Retinal Pigmented Epithelium Cells Retinal Pigmented Epithelium
    AK5 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    AK5 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.559718

    UniProtKB/Swiss-Prot: KAD5_HUMAN, Q9Y6K8
    Tissue specificity: Brain specific

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AK5

    (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 animals and fungi.

    Orthologs for AK5 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ak51 , 5 adenylate kinase 51, 5 86.36(n)1
    91.46(a)1
      3 (77.16 cM)5
    2299491  NM_001081277.11  NP_001074746.11 
     1524628155 
    chicken
    (Gallus gallus)
    Aves AK51 adenylate kinase 5 75.94(n)
    77.36(a)
      424555  XM_422391.4  XP_422391.2 
    lizard
    (Anolis carolinensis)
    Reptilia AK56
    adenylate kinase 5
    73(a)
    1 ↔ 1
    GL343194.1(4372421-4542250)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia ak51 adenylate kinase 5 71.14(n)
    72.33(a)
      100127649  NM_001112994.1  NP_001106465.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1000035951 novel protein similar to vertebrate adenylate cyclase more 65.77(n)
    64.64(a)
      100003595  NM_001100084.1  NP_001093554.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Adk13 adenylate kinase 46(a)   69A2   --
    worm
    (Caenorhabditis elegans)
    Secernentea F38B2.43
    F13E6.21
    adenylate kinase3
    F13E6.21
    49(a)3
    45.12(n)1
    28.87(a)1
      X(11321946-11322944)3
    1812641  NM_077385.41  NP_509786.21 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes URA66
    Uridylate kinase, catalyzes the seventh enzymatic ...
    38(a)
    1 → many
    XI(392526-393140) YKL024C


    ENSEMBL Gene Tree for AK5 (if available)
    TreeFam Gene Tree for AK5 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for AK5 gene
    AK12  CMPK12  
    4 SIMAP similar genes for AK5 using alignment to 4 protein entries:     KAD5_HUMAN (see all proteins):
    AK1    AK2    CMPK1    CMPK

    Find genes that share paralogs with AK5           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for AK5 (see all 5868)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs611885381,2
    C--76004136(+) AAAAA-/A/A   
       A
    /AAA
    TCAAC
    4 -- int1 cds11NA 2
    rs667611161,2
    C--76059347(-) CACCT-/ATCC/ 
    ATCCATCC
    ATCCA
    2 -- int12NA 4
    rs26475001,2
    C,H--76077605(-) TCTTaC/Tacaca 2 -- int10--------
    rs105876371,2
    C--76141042(+) GTTTG-/ACTG  
            
    GACAT
    2 -- int11Minor allele frequency- ACTG:0.00NA 2
    rs1916194621,2
    --77745717(+) ATTTAC/GTGTTC 1 -- us2k10--------
    rs1841508721,2
    --77745826(+) TGCAAA/GAGTAA 1 -- us2k10--------
    rs1402806401,2
    --77745964(+) TACAAC/TTTTTA 1 -- us2k10--------
    rs1888200971,2
    --77746220(+) TACTTC/TTCAAG 1 -- us2k10--------
    rs20049621,2
    C,F,H--77746245(-) AGTGTC/GTCTTC 1 -- us2k1 trp322Minor allele frequency- G:0.09NS EA NA WA 2490
    rs118074691,2
    C,F,H--77746265(+) ACTGCC/TATAGC 1 -- us2k1 tfbs38Minor allele frequency- T:0.09NS NA WA 914

    HapMap Linkage Disequilibrium report for AK5 (77747662 - 77997662 bp, first 250kb of AK5)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for AK5 (see all 27):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv1179842CNV Deletion17803354
    esv2750152CNV Deletion23290073
    esv2657556CNV Deletion23128226
    esv2676174CNV Deletion23128226
    esv2656843CNV Deletion23128226
    esv2659731CNV Deletion23128226
    esv2670780CNV Deletion23128226
    esv1440178CNV Deletion17803354
    esv270640CNV Insertion20981092
    esv272326CNV Insertion20981092

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing AK5
    DNA2.0 Custom Variant and Variant Library Synthesis for AK5

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 608009    OMIM disorders: --

    1 disease for AK5:    
    About MalaCards
    limbic encephalitis

    1 disease from the University of Copenhagen DISEASES database for AK5:
    Histiocytoma

    Find genes that share disorders with AK5           About GenesLikeMe

    Genetic Association Database (GAD): AK5
    Human Genome Epidemiology (HuGE) Navigator: AK5 (2 documents)

    Export disorders for AK5 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 AK5 gene, integrated from 10 sources (see all 17):
    (articles sorted by number of sources associating them with AK5)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of a novel human adenylate kinase. cDNA cloning, expression analysis, chromosome localization and characterization of the recombinant protein. (PubMed id 10215863)1, 2, 3 Van Rompay A.R.... Karlsson A. (Eur. J. Biochem. 1999)
    2. Identification of two active functional domains of human adenylate kinase 5. (PubMed id 19647735)1, 2, 9 Solaroli N.... Karlsson A. (FEBS Lett. 2009)
    3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    4. 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)
    5. The human adenylate kinase 9 is a nucleoside mono- and diphosphate kinase. (PubMed id 23416111)2 Amiri M....Solaroli N. (amp 2013)
    6. Interlaboratory reproducibility of large-scale human protein-complex analysis by standardized AP-MS. (PubMed id 23455922)1 Varjosalo M....Superti-Furga G. (Nat. Methods 2013)
    7. Proteomic identification of the MYST domain histone acetyltransferase TIP60 (HTATIP) as a co-activator of the myeloid transcription factor C/EBPalpha. (PubMed id 18239623)1 Bararia D....Behre G. (Leukemia 2008)
    8. Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (amp 2008)
    9. A human protein-protein interaction network: a resource for annotating the proteome. (PubMed id 16169070)1 Stelzl U.... Wanker E.E. (Cell 2005)
    10. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1 Ota T.... Sugano S. (Nat. Genet. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    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: 26289 HGNC: 365 AceView: AK5 Ensembl:ENSG00000154027 euGenes: HUgn26289
    ECgene: AK5 Kegg: 26289 H-InvDB: AK5

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for AK5 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for AK5 gene:
    Search GeneIP for patents involving AK5

    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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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