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AK3 Gene

protein-coding   GIFtS: 61
GCID: GC09M004703

Adenylate Kinase 3

(Previous names: adenylate kinase 6, adenylate kinase 3 like 1)
(Previous symbols: AK6, AK3L1)
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Adenylate Kinase 31 2 3     AKL3L12
AK3L11 2 3 5     FIX2
AK61 2 3     Adenylate Kinase 6, Adenylate Kinase 3 Like 12
Adenylate Kinase 3 Alpha-Like 12 3     GTP:AMP Phosphotransferase AK3, Mitochondrial2
AKL3L2 3     GTP:AMP Phosphotransferase, Mitochondrial2
EC 2.7.4.103 8     AK 33
Adenylate Kinase 3 Like 11     EC 2.7.48
Adenylate Kinase 61     

External Ids:    HGNC: 173761   Entrez Gene: 508082   Ensembl: ENSG000001478537   OMIM: 6092905   UniProtKB: Q9UIJ73   

Export aliases for AK3 gene to outside databases

Previous GC identifers: GC01P065564 GC01P064533 GC01P064970 GC01P064983 GC01P065326


(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 AK3 Gene:
The protein encoded by this gene is a GTP:ATP phosphotransferase that is found in the mitochondrial matrix.
Several transcript variants encoding a few different isoforms have been found for this gene. (provided by RefSeq,
Dec 2010)

GeneCards Summary for AK3 Gene:
AK3 (adenylate kinase 3) is a protein-coding gene. GO annotations related to this gene include nucleoside triphosphate adenylate kinase activity and GTP binding. An important paralog of this gene is AK8.

UniProtKB/Swiss-Prot: KAD3_HUMAN, Q9UIJ7
Function: Involved in maintaining the homeostasis of cellular nucleotides by catalyzing the interconversion of
nucleoside phosphates. Has GTP:AMP phosphotransferase and ITP:AMP phosphotransferase activities




(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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Regulatory elements:
   Regulatory transcription factor binding sites in the AK3 gene promoter:
         AP-2alpha isoform 3   AML1a   Pax-2   AP-2alpha isoform 2   Pax-2a   Evi-1   CREB   AP-2alpha isoform 4   Pax-4a   AP-2alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidAK3 promoter sequence
   Search Chromatin IP Primers for AK3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat AK3


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

Entrez Gene cytogenetic band: 9p24.1   Ensembl cytogenetic band:  9p24.1   HGNC cytogenetic band: 9p24.1

AK3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
AK3 gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09M004703:  view genomic region     (about GC identifiers)

Start:
4,709,556 bp from pter      End:
4,742,043 bp from pter
Size:
32,488 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: KAD3_HUMAN, Q9UIJ7 (See protein sequence)
Recommended Name: GTP:AMP phosphotransferase AK3, mitochondrial  
Size: 227 amino acids; 25565 Da
Subunit: Monomer (By similarity)
1 PDB 3D structure from and Proteopedia for AK3:
1ZD8 (3D)    
Secondary accessions: B4DP58 D3DRI1 E7ET30 Q5VYW6 Q9H576 Q9HC01 Q9NPB4
Alternative splicing: 3 isoforms:  Q9UIJ7-1   Q9UIJ7-2   Q9UIJ7-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for AK3: NX_Q9UIJ7

Explore proteomics data for AK3 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for AK3 (Q9UIJ7) (see all 10)
     FSGTETN  DDKPETV  SSGDLLR  LDGFPRT 


    See AK3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (5 alternative transcripts): 
    NP_001186781.1  NP_001186782.1  NP_001186784.1  NP_001186785.1  NP_057366.2  

    ENSEMBL proteins: 
     ENSP00000371230   ENSP00000352948   ENSP00000413933  
    Reactome Protein details: Q9UIJ7

    AK3 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    OriGene Purified Protein for AK3
    OriGene Protein Over-expression Lysate for AK3
    OriGene MassSpec for AK3
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    Novus Biologicals AK3 Proteins
    Novus Biologicals AK3 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for AK3

     
    Search eBioscience for Proteins for AK3 

     
    antibodies-online proteins for AK3 (8 products) 

     
    antibodies-online peptides for AK3

    AK3 Antibody Products:

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    Abcam antibodies for AK3 (Q9UIJ7, P27144)
    Cloud-Clone Corp. Antibodies for AK3
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    antibodies-online antibodies for AK3 (58 products) 

    AK3 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for AK3
    Cloud-Clone Corp. CLIAs for AK3
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    antibodies-online kits for AK3 (6 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    5 InterPro protein domains:
     IPR006259 Adenyl_kin_sub
     IPR000850 Adenylat/UMP-CMP_kin
     IPR007862 Adenylate_kinase_lid-dom
     IPR028586 AK3/Ak4_mitochondrial
     IPR027417 P-loop_NTPase

    Graphical View of Domain Structure for InterPro Entry Q9UIJ7

    ProtoNet protein and cluster: Q9UIJ7

    1 Blocks protein domain: IPB000850 Adenylate kinase

    UniProtKB/Swiss-Prot: KAD3_HUMAN, Q9UIJ7
    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 GTP
    binding. Assembling and dissambling the active center during each catalytic cycle provides an effective means to
    prevent GTP hydrolysis
    Similarity: Belongs to the adenylate kinase family. AK3 subfamily


    Find genes that share domains with AK3           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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: KAD3_HUMAN, Q9UIJ7
    Function: Involved in maintaining the homeostasis of cellular nucleotides by catalyzing the interconversion of
    nucleoside phosphates. Has GTP:AMP phosphotransferase and ITP:AMP phosphotransferase activities
    Catalytic activity: NTP + AMP = NDP + ADP

         Genatlas biochemistry entry for AK3:
    adenylate kinase 3,mitochondrial matrix adenine nucleotide catabolic pathway and guanine nucleotide pools
    homeostasis

         Enzyme Numbers (IUBMB): EC 2.7.4.101 2 EC 2.7.42

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004017NOT adenylate kinase activity IDA11485571
    GO:0005524ATP binding IEA--
    GO:0005525GTP binding IEA--
    GO:0016776phosphotransferase activity, phosphate group as acceptor ----
    GO:0046899nucleoside triphosphate adenylate kinase activity IDA11485571
         
    Find genes that share ontologies with AK3           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for AK3:
     Decreased CYP1A1 activity afte  Increased cell number in G1, s 

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for AK3

    miRNA
    Products:
        
    miRTarBase miRNAs that target AK3:
    hsa-mir-197-3p (MIRT048103), hsa-mir-24-3p (MIRT030501), hsa-mir-124-3p (MIRT022580), hsa-mir-324-5p (MIRT043088)

    Block miRNA regulation of human, mouse, rat AK3 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate AK3 (see all 41):
    hsa-miR-579 hsa-miR-607 hsa-miR-3607-3p hsa-miR-449a hsa-miR-124 hsa-miR-186 hsa-miR-506 hsa-miR-181b
    SwitchGear 3'UTR luciferase reporter plasmidAK3 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for AK3
    Predesigned siRNA for gene silencing in human, mouse, rat AK3

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for AK3

    Clone
    Products:
         
    OriGene clones in human, mouse for AK3 (see all 7)
    OriGene ORF clones in mouse, rat for AK3
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: AK3 (NM_000215)
    Sino Biological Human cDNA Clone for AK3
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for AK3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AK3
    Addgene plasmids for AK3 

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for AK3
    Browse ESI BIO Cell Lines and PureStem Progenitors for AK3 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AK3


    (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
    KAD3_HUMAN, Q9UIJ7: Mitochondrion matrix
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    cytosol1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion ISS--
    GO:0005759mitochondrial matrix TAS--

    Find genes that share ontologies with AK3           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 AK3 About    
    See pathways by source

    SuperPathContained pathways About
    1Hemostasis
    Hemostasis0.43
    2Purine metabolism (KEGG)
    Pyrimidine metabolism0.38
    3Factors involved in megakaryocyte development and platelet production
    Factors involved in megakaryocyte development and platelet production


    Find genes that share SuperPaths with AK3           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for AK3
        Cholera Infection
    AMPK Enzyme Complex Pathway


    1 Reactome Pathway for AK3
        Factors involved in megakaryocyte development and platelet production


    1 Kegg Pathway  (Kegg details for AK3):
        Pyrimidine metabolism

        Pathway & Disease-focused RT2 Profiler PCR Array including AK3: 
              Cardiotoxicity in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for AK3

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

    Selected Interacting proteins for AK3 (Q9UIJ73 ENSP000003712304) via UniProtKB, MINT, STRING, and/or I2D (see all 53)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GOT1P171743I2D: score=1 
    CMPK2ENSP000002567224STRING: ENSP00000256722
    ENTPD1ENSP000003602484STRING: ENSP00000360248
    ENTPD3ENSP000003018254STRING: ENSP00000301825
    ENTPD4ENSP000003515204STRING: ENSP00000351520
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007596blood coagulation TAS--
    GO:0046033AMP metabolic process IDA11485571
    GO:0046039GTP metabolic process IDA11485571
    GO:0046041ITP metabolic process IDA11485571
    GO:0046051UTP metabolic process IDA11485571

    Find genes that share ontologies with AK3           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 AK3 (KAD3)

    4 HMDB Compounds for AK3    About this table
    CompoundSynonyms CAS #PubMed Ids
    ADPadenosindiphosphorsaeure (see all 8)58-64-0--
    Adenosine monophosphate5'-AMP (see all 28)61-19-8--
    Uridine 5'-diphosphate5'-UDP (see all 9)58-98-0--
    Uridine triphosphate5'-UTP (see all 7)63-39-8--

    1 Novoseek inferred chemical compound relationship for AK3 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    adenylate 61.5 8 1639383 (2), 10544043 (2), 19278812 (1), 17203974 (1)



    Find genes that share compounds with AK3           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 AK3 gene (6 alternative transcripts): 
    NM_001199852.1  NM_001199853.1  NM_001199855.1  NM_001199856.1  NM_016282.3  NM_001199854.1  

    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000381809(uc022bcz.1 uc011lma.2 uc003ziq.2 uc022bda.1 uc003zir.2)
    ENST00000359883 ENST00000447596
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat AK3 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate AK3 (see all 41):
    hsa-miR-579 hsa-miR-607 hsa-miR-3607-3p hsa-miR-449a hsa-miR-124 hsa-miR-186 hsa-miR-506 hsa-miR-181b
    SwitchGear 3'UTR luciferase reporter plasmidAK3 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat AK3
    Clone
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    OriGene clones in human, mouse for AK3 (see all 7)
    OriGene ORF clones in mouse, rat for AK3
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: AK3 (NM_000215)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for AK3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AK3
    Addgene plasmids for AK3 
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for AK3
    OriGene qSTAR qPCR primer pairs in human, mouse for AK3
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat AK3
      QuantiTect SYBR Green Assays in human, mouse, rat AK3
      QuantiFast Probe-based Assays in human, mouse, rat AK3

    Selected AceView cDNA sequences (see all 390):

    BQ719719 AI628359 AF183419 BM313758 AA838729 AW662551 AV695155 AA626087 
    BF111106 AW959521 BX461238 AI827818 BX279600 BX480440 AI476266 N91475 
    CA393732 BU742092 AK001951 BP342636 AA564981 AU130170 CK820218 AI492972 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for AK3 (see all 7)    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9a · 9b
    SP1:                                                                              
    SP2:              -     -     -     -     -     -                                 
    SP3:                    -     -     -     -     -                                 
    SP4:                                -     -     -                                 
    SP5:                                -     -     -     -                           


    ECgene alternative splicing isoforms for AK3

    (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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    AK3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTGAGACACT
    AK3 Expression
    About this image


    AK3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Brain (Nervous System)    fully expand to see all 6 entries
             Cerebral Cortex
     
     Neural Tube (Nervous System)    fully expand to see all 4 entries
             Metencephalon
     
     Kidney (Urinary System)
             Metanephros
     
     Lung (Respiratory System)
             Trachea
     
     Bone (Muscoskeletal System)
             Membranous Facial Bones
    AK3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    AK3 Protein Expression

    UniProtKB/Swiss-Prot: KAD3_HUMAN, Q9UIJ7
    Tissue specificity: Highly expressed in heart, skeletal muscle and liver, moderately expressed in pancreas and
    kidney, and weakly expressed in placenta, brain and lung

        Pathway & Disease-focused RT2 Profiler PCR Array including AK3: 
              Cardiotoxicity in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for AK3
    OriGene qSTAR qPCR primer pairs in human, mouse for AK3
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat AK3
    QuantiTect SYBR Green Assays in human, mouse, rat AK3
    QuantiFast Probe-based Assays in human, mouse, rat AK3
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AK3

    (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

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

    Orthologs for AK3 gene from Selected species (see all 20)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ak31 , 5 adenylate kinase 31, 5 88.84(n)1
    92.51(a)1
      19 (23.61 cM)5
    562481  NM_021299.11  NP_067274.11 
     290208335 
    chicken
    (Gallus gallus)
    Aves AK31 adenylate kinase 3 74.67(n)
    73.33(a)
      426534  XM_424173.4  XP_424173.4 
    lizard
    (Anolis carolinensis)
    Reptilia AK36
    adenylate kinase 3
    69(a)
    1 ↔ 1
    2(52100619-52113293)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.152332 Transcribed sequence with weak similarity to protein more 75.38(n)    BX702100.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufc20h082 Danio rerio cDNA clone MGC64135 IMAGE6796870, complete more 75.24(n)    BC053273.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Adk31 , 3 adenylate kinase3
    Adenylate kinase-31
    48(a)3
    55.61(n)1
    50.71(a)1
      86C73
    413181  NM_079588.31  NP_524312.11 
    worm
    (Caenorhabditis elegans)
    Secernentea ZK673.23
    CELE_ZK673.21
    adenylate kinase3
    CELE_ZK673.21
    31(a)3
    47.26(n)1
    37.81(a)1
      II(10447856-10450117)3
    1746081  NM_063844.41  NP_496245.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ADK2(YER170W)4
    ADK21
    Mitochondrial adenylate kinase, catalyzes the reversible more4
    ADK21
    49.16(n)1
    46.46(a)1
      5(525974-526651)4
    8569171, 4  NP_011097.31  NP_011097.14 


    ENSEMBL Gene Tree for AK3 (if available)
    TreeFam Gene Tree for AK3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for AK3 gene
    AK82  AK42  
    2 SIMAP similar genes for AK3 using alignment to 1 protein entry:     KAD3_HUMAN:
    AK4    AK2

    Find genes that share paralogs with AK3           About GenesLikeMe


    Selected Pseudogenes.org Pseudogenes for AK3 (see all 7)
    PGOHUM00000238717 PGOHUM00000239611 PGOHUM00000238040 PGOHUM00000235732 PGOHUM00000233148


    (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 AK3 (see all 1303)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs604088521,2
    C--4665736(+) TTTTT-/TT/TTTT
    TTTTTTTTT
    GTATT
    10 -- ut311NA 2
    rs126839531,2
    C,F,A,H--4671414(+) gatcaG/Aagcta 5 -- int112Minor allele frequency- A:0.32NS EA NA WA 784
    rs126830001,2
    C,F,H--4671415(+) atcagA/Tgctaa 5 -- int18Minor allele frequency- T:0.31NA WA EA 370
    rs355544261,2
    C--4674527(+) TTTTG-/GTCA  
            
    GTCAG
    5 -- int15Minor allele frequency- GTCA:0.32EU NA MN CSA 382
    rs616440701,2
    C,F--4676178(+) AAAAA-/AAA   
       
    /AAAA
    GTGAC
    10 -- int1 cds12NA CSA 4
    rs1418680731,2
    C--4684236(+) TATAT-/ATATATATAT
    ATATATATATAC
    ACACA
    4 -- int10--------
    rs1488503521,2
    C--4690821(+) TAAAT-/ATATATATATAT
    AAATATATATATAA
    ATATA
    4 -- int10--------
    rs1999788671,2
    C--4690830(+) ATATAC/TATAAA 4 -- int10--------
    rs755244941,2
    C,F--4704141(+) GTACTT/CGTCTG 5 -- ds50011Minor allele frequency- C:0.09WA 118
    rs1824533791,2
    --4704200(+) CATTAC/TAGCAA 5 -- ds50010--------

    HapMap Linkage Disequilibrium report for AK3 (4709556 - 4742043 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for AK3 (see all 11):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2669659CNV Deletion23128226
    esv2678066CNV Deletion23128226
    esv2606673CNV Insertion19546169
    nsv466096CNV Loss19166990
    dgv8016n71CNV Loss21882294
    nsv892131CNV Loss21882294
    nsv824823CNV Loss20364138
    nsv892128CNV Gain21882294
    nsv892127CNV Gain21882294
    nsv892132CNV Gain21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing AK3
    DNA2.0 Custom Variant and Variant Library Synthesis for AK3

    (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: 609290    OMIM disorders: --


    Find genes that share disorders with AK3           About GenesLikeMe

    Genetic Association Database (GAD): AK3
    Human Genome Epidemiology (HuGE) Navigator: AK3 (3 documents)

    Export disorders for AK3 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 AK3 gene, integrated from 10 sources (see all 24):
    (articles sorted by number of sources associating them with AK3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)
    2. A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium. (PubMed id 19820697)1, 4 Soranzo N....Gieger C. (Nat. Genet. 2009)
    3. DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)1, 2 Humphray S.J.... Dunham I. (Nature 2004)
    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. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    6. Structure and expression of human mitochondrial adenylate kinase targeted to the mitochondrial matrix. (PubMed id 11485571)1, 2 Noma T.... Yoshinobu K. (Biochem. J. 2001)
    7. Evidence for the assignment of the loci AK1, AK3 and ACONs to chromosome 9 in man. (PubMed id 182062)1, 3 Povey S....Bobrow M. (Ann. Hum. Genet. 1976)
    8. Cloning and functional characterization of the promoter region of the gene encoding human adenylate kinase isozyme 3. (PubMed id 10544043)1, 9 Noma T....Nakazawa A. (Biochem. Biophys. Res. Commun. 1999)
    9. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
    10. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (Cell 2012)

    (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: 50808 HGNC: 17376 AceView: AK3L1 Ensembl:ENSG00000147853 euGenes: HUgn50808
    ECgene: AK3 Kegg: 50808 H-InvDB: AK3

    (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)
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    NameDescription
    PharmGKB entry for AK3 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for AK3 gene:
    Search GeneIP for patents involving AK3

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



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