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AK4 Gene

protein-coding   GIFtS: 58
GCID: GC01P065614

Adenylate Kinase 4

(Previous names: adenylate kinase 3, adenylate kinase 3-like 1)
(Previous symbols: AK3, AK3L1)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Adenylate Kinase 41 2     GTP:AMP Phosphotransferase AK4, Mitochondrial2
AK31 2 3 5     Mitochondrial Adenylate Kinase-32
AK3L11 2 3     Nucleoside-Triphosphate-Adenylate Kinase2
Adenylate Kinase 3-Like 11 2     EC 2.7.4.103
AK 42 3     EC 2.7.4.63
Adenylate Kinase 31     Adenylate Kinase 3-Like3
AK3L22     GTP:AMP Phosphotransferase AK43
Adenylate Kinase 4, Mitochondrial2     EC 2.7.48
Adenylate Kinase Isoenzyme 4, Mitochondrial2     EC 2.7.4.38
ATP-AMP Transphosphorylase2     

External Ids:    HGNC: 3631   Entrez Gene: 2052   Ensembl: ENSG000001624337   OMIM: 1030305   UniProtKB: P271443   

Export aliases for AK4 gene to outside databases


(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 AK4 Gene:
This gene encodes a member of the adenylate kinase family of enzymes. The encoded protein is localized to the
mitochondrial matrix. Adenylate kinases regulate the adenine and guanine nucleotide compositions within a cell by
catalyzing the reversible transfer of phosphate group among these nucleotides. Five isozymes of adenylate kinase
have been identified in vertebrates. Expression of these isozymes is tissue-specific and developmentally
regulated. A pseudogene for this gene has been located on chromosome 17. Three transcript variants encoding the
same protein have been identified for this gene. Sequence alignment suggests that the gene defined by NM_013410,
NM_203464, and NM_001005353 is located on chromosome 1. (provided by RefSeq, Jul 2008)

GeneCards Summary for AK4 Gene:
AK4 (adenylate kinase 4) is a protein-coding gene. Diseases associated with AK4 include venous thrombosis, and labyrinthitis. GO annotations related to this gene include GTP binding and adenylate kinase activity. An important paralog of this gene is AK3.

UniProtKB/Swiss-Prot: KAD4_HUMAN, P27144
Function: Involved in maintaining the homeostasis of cellular nucleotides by catalyzing the interconversion of
nucleoside phosphates. Efficiently phosphorylates AMP and dAMP using ATP as phosphate donor, but phosphorylates
only AMP when using GTP as phosphate donor. Also displays broad nucleoside diphosphate kinase activity

Gene Wiki entry for AK4 (AK3L1) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000001.11  NC_018912.2  NT_032977.10  
Regulatory elements:
   Search for regulatory transcription factor binding sites for AK4
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidAK4 promoter sequence
   Search Chromatin IP Primers for AK4

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat AK4


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

Entrez Gene cytogenetic band: 1p31.3   Ensembl cytogenetic band:  1p31.3   HGNC cytogenetic band: 1p31.3

AK4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
AK4 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P065614:  view genomic region     (about GC identifiers)

Start:
65,613,232 bp from pter      End:
65,697,828 bp from pter
Size:
84,597 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: KAD4_HUMAN, P27144 (See protein sequence)
Recommended Name: Adenylate kinase 4, mitochondrial  
Size: 223 amino acids; 25268 Da
Subunit: Monomer
3 PDB 3D structures from and Proteopedia for AK4:
2AR7 (3D)        2BBW (3D)        3NDP (3D)    
Secondary accessions: B2R927 D3DQ62 Q6IBH4 Q6NXQ5 Q8IUU9

Explore the universe of human proteins at neXtProt for AK4: NX_P27144

Explore proteomics data for AK4 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for AK4 (P27144) (see all 8)
     FSGTETN  LDGFPRT  WLLDGFPR  DDVTGEPL 


    See AK4 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001005353.1  NP_037542.1  NP_982289.1  

    ENSEMBL proteins: 
     ENSP00000448458   ENSP00000322175   ENSP00000445912   ENSP00000378743  

    AK4 Human Recombinant Protein Products:

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    Novus Biologicals AK4 Proteins
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    Cloud-Clone Corp. Proteins for AK4

    AK4 Antibody Products:

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    AK4 Assay Products:

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    Cloud-Clone Corp. ELISAs for AK4
    Cloud-Clone Corp. CLIAs for AK4


    (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

    Selected InterPro protein domains (see all 6):
     IPR006259 Adenyl_kin_sub
     IPR000850 Adenylat/UMP-CMP_kin
     IPR028585 AK4_mitochondrial
     IPR007862 Adenylate_kinase_lid-dom
     IPR028586 AK3/Ak4_mitochondrial

    Graphical View of Domain Structure for InterPro Entry P27144

    ProtoNet protein and cluster: P27144

    1 Blocks protein domain: IPB000850 Adenylate kinase

    UniProtKB/Swiss-Prot: KAD4_HUMAN, P27144
    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/ATP
    binding. Assembling and dissambling the active center during each catalytic cycle provides an effective means to
    prevent GTP/ATP hydrolysis
    Similarity: Belongs to the adenylate kinase family. AK3 subfamily


    AK4 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: KAD4_HUMAN, P27144
    Function: Involved in maintaining the homeostasis of cellular nucleotides by catalyzing the interconversion of
    nucleoside phosphates. Efficiently phosphorylates AMP and dAMP using ATP as phosphate donor, but phosphorylates
    only AMP when using GTP as phosphate donor. Also displays broad nucleoside diphosphate kinase activity
    Catalytic activity: NTP + AMP = NDP + ADP
    Catalytic activity: ATP + nucleoside diphosphate = ADP + nucleoside triphosphate
    Biophysicochemical properties: Kinetic parameters: KM=5.3 uM for AMP with ATP as phosphate donor; KM=1.4 uM for
    AMP with GTP as phosphate donor; KM=507 uM for dAMP with ATP as phosphate donor; Vmax=90 pmol/min/ug enzyme with
    AMP as substrate and ATP as phosphate donor; Vmax=80 pmol/min/ug enzyme with AMP as substrate and GTP as
    phosphate donor; Vmax=88 pmol/min/ug enzyme with dAMP as substrate and ATP as phosphate donor;

         Enzyme Numbers (IUBMB): EC 2.7.4.32 EC 2.7.4.61 EC 2.7.4.101 EC 2.7.42

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004017NOT adenylate kinase activity IDA11485571
    GO:0004550nucleoside diphosphate kinase activity IDA--
    GO:0005524ATP binding IEA--
    GO:0005525GTP binding IEA--
    GO:0016776phosphotransferase activity, phosphate group as acceptor ----
         
    AK4 for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for AK4
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for AK4

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for AK4
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for AK4

    miRNA
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    miRTarBase miRNAs that target AK4:
    hsa-mir-26b-5p (MIRT030106), hsa-mir-24-3p (MIRT030613)

    Block miRNA regulation of human, mouse, rat AK4 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate AK4 (see all 91):
    hsa-miR-199a-3p hsa-miR-106a hsa-miR-15a hsa-miR-128 hsa-miR-3138 hsa-miR-342-3p hsa-miR-93 hsa-miR-3613-3p
    SwitchGear 3'UTR luciferase reporter plasmidAK4 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for AK4
    Predesigned siRNA for gene silencing in human, mouse, rat AK4

    Gene Editing
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    DNA2.0 Custom Protein Engineering Service for AK4

    Clone
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    OriGene clones in human, mouse for AK4 (see all 19)
    OriGene ORF clones in mouse, rat for AK4
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): AK4 (NM_001005353)
    Sino Biological Human cDNA Clone for AK4
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for AK4
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AK4

    Cell Line
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AK4


    (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
    KAD4_HUMAN, P27144: Mitochondrion matrix

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IDA--
    GO:0005759mitochondrial matrix ISS11485571

    AK4 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for AK4 About    
    See pathways by source

    SuperPathContained pathways About
    1Purine metabolism (KEGG)
    Purine metabolism0.38
    ATP ITP metabolism0.31
    2purine nucleotide salvage
    purine nucleotide salvage0.78
    adenosine ribonucleotides de novo biosynthesis0.51
    purine nucleotides de novo biosynthesis0.78
    3Metabolism
    Metabolic pathways0.38
    4Tenofovir/Adefovir Pathway, Pharmacokinetics
    Tenofovir/Adefovir Pathway, Pharmacokinetics

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for AK4
        Cholera Infection
    AMPK Enzyme Complex Pathway

    1 GeneGo (Thomson Reuters) Pathway for AK4
        ATP/ITP metabolism

    3 BioSystems Pathways for AK4
        purine nucleotides de novo biosynthesis
    purine nucleotide salvage
    adenosine ribonucleotides de novo biosynthesis


    1 PharmGKB Pathway for AK4
        Tenofovir/Adefovir Pathway, Pharmacokinetics

    2 Kegg Pathways  (Kegg details for AK4):
        Purine metabolism
    Metabolic pathways


    AK4 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for AK4
    Interactions:

        Search GeneGlobe Interaction Network for AK4

    3 Interacting proteins for AK4 (P271442, 3) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    KEAP1Q141452, 3MINT-8247640 I2D: score=2 
    UBA5Q9GZZ93I2D: score=1 
    WDR6Q9NNW53I2D: score=1 
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001889liver development IEA--
    GO:0006165nucleoside diphosphate phosphorylation IDA--
    GO:0007420brain development IEA--
    GO:0009142nucleoside triphosphate biosynthetic process IDA--
    GO:0018885carbon tetrachloride metabolic process ----

    AK4 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for AK4 (KAD4)

    5 HMDB Compounds for AK4    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--

    2 Novoseek inferred chemical compound relationships for AK4 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    adenylate 68.5 11 9813319 (3), 1639383 (2), 10544043 (1), 11485571 (1) (see all 5)
    adenine 49.9 2 1448660 (1), 9813319 (1)



    AK4 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for AK4 gene (3 alternative transcripts): 
    NM_001005353.2  NM_013410.3  NM_203464.2  

    Unigene Cluster for AK4:

    Adenylate kinase 4
    Hs.10862  [show with all ESTs]
    Unigene Representative Sequence: NM_001005353
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000497030 ENST00000470888 ENST00000546702 ENST00000327299(uc001dca.3)
    ENST00000474968 ENST00000479060 ENST00000545314(uc001dby.3 uc009wan.3)
    ENST00000395334(uc001dbz.3)
    miRNA
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    Block miRNA regulation of human, mouse, rat AK4 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate AK4 (see all 91):
    hsa-miR-199a-3p hsa-miR-106a hsa-miR-15a hsa-miR-128 hsa-miR-3138 hsa-miR-342-3p hsa-miR-93 hsa-miR-3613-3p
    SwitchGear 3'UTR luciferase reporter plasmidAK4 3' UTR sequence
    Inhib. RNA
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AK4
    Primer
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      QuantiTect SYBR Green Assays in human, mouse, rat AK4
      QuantiFast Probe-based Assays in human, mouse, rat AK4

    Additional mRNA sequence: 

    AK025926.1 AK026966.1 AK309057.1 AK313611.1 BC016180.1 BC040224.1 BC066944.1 BC128048.1 
    BC136886.1 BC136887.1 BC146653.1 BC148270.1 CR456830.1 X60673.1 

    17 DOTS entries:

    DT.307366  DT.415730  DT.97775034  DT.446781  DT.95185570  DT.92430671  DT.92430673  DT.92430656 
    DT.121137930  DT.120972537  DT.120972984  DT.95217850  DT.121165118  DT.91725141  DT.91667898  DT.92430661 
    DT.95208164 

    13 AceView cDNA sequences:

    BI862402 BM848258 BI855899 BM763432 BM798579 AU099230 BI598956 BI860320 
    AU104804 CB997715 BE778105 BQ378217 H12912 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, 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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    AK4 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGAAGTTAAG
    AK4 Expression
    About this image


    AK4 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 11) fully expand
     
     Neural Tube (Nervous System)    fully expand to see all 4 entries
             Metencephalon
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Lung (Respiratory System)    fully expand to see all 2 entries
             Stem Bronchi
     
     Kidney (Urinary System)
             Metanephros
     
     Thymus (Hematopoietic System)
             Thymus
    AK4 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    AK4 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.10862

    UniProtKB/Swiss-Prot: KAD4_HUMAN, P27144
    Tissue specificity: Highly expressed in kidney, moderately expressed in heart and liver and weakly expressed in
    brain

        Custom PCR Arrays for AK4
    Primer
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    OriGene qPCR primer pairs and template standards for AK4
    OriGene qSTAR qPCR primer pairs in human, mouse for AK4
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat AK4
    QuantiTect SYBR Green Assays in human, mouse, rat AK4
    QuantiFast Probe-based Assays in human, mouse, rat AK4
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AK4

    (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 AK4 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ak41 , 5 adenylate kinase 41, 5 87.74(n)1
    90.13(a)1
      4 (46.84 cM)5
    116391  NM_001177602.11  NP_001171073.11 
     1014192775 
    chicken
    (Gallus gallus)
    Aves AK41 adenylate kinase 4 75.64(n)
    80.72(a)
      424697  XM_422526.4  XP_422526.3 
    lizard
    (Anolis carolinensis)
    Reptilia AK46
    adenylate kinase 4
    79(a)
    1 ↔ 1
    4(98331422-98356417)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia ak41 adenylate kinase 4 71.92(n)
    77.93(a)
      100495400  XM_002931597.2  XP_002931643.1 
    zebrafish
    (Danio rerio)
    Actinopterygii ak41 adenylate kinase 4 66.51(n)
    66.36(a)
      406590  NM_213299.1  NP_998464.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Adk36
    Adenylate kinase-3
    48(a)
    1 → many
    3R(6713288-6715310)
    worm
    (Caenorhabditis elegans)
    Secernentea ZK673.26
    Protein ZK673.2 (ZK673.2) mRNA, complete cds
    29(a)
    1 → many
    II(10448266-10450227) WBGene00014058
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ADK26
    Mitochondrial adenylate kinase, catalyzes the reve...
    40(a)
    1 → many
    V(525974-526651) YER170W


    ENSEMBL Gene Tree for AK4 (if available)
    TreeFam Gene Tree for AK4 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for AK4 gene
    AK32  AK82  
    2 SIMAP similar genes for AK4 using alignment to 3 protein entries:     KAD4_HUMAN (see all proteins):
    AK3    AK2

    AK4 for paralogs           About GeneDecksing


    4 Pseudogenes.org Pseudogenes for AK4
    PGOHUM00000246100 PGOHUM00000235224 PGOHUM00000261423 PGOHUM00000235956


    (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 AK4 (see all 1651)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs721610651,2
    C--63746458(+) TCAAG-/TATAT 
     ATATATA
    TATAT
    3 -- int10--------
    rs1860901491,2
    --65611251(+) ACTGTG/TATTTG 1 -- us2k10--------
    rs1484901961,2
    --65611334(+) CACCCA/GCTGCC 1 -- us2k10--------
    rs124100791,2
    C,H--65611399(+) gataaT/Ccccac 1 -- us2k16Minor allele frequency- C:0.08NA WA EA 364
    rs1426432581,2
    --65611428(+) TTTTCA/GGACTC 1 -- us2k10--------
    rs49156811,2
    C,F,A,H--65611442(+) ccgccG/Tgcacc 1 -- us2k17Minor allele frequency- T:0.36NA WA CSA EA 131
    rs49160211,2
    C,F,A,H--65611453(+) caggtA/Gaaata 1 -- us2k1 tfbs35Minor allele frequency- G:0.34NA WA EA 128
    rs1898093461,2
    --65611509(+) ATGGAC/TGTGCG 1 -- us2k10--------
    rs1820783021,2
    --65611604(+) CCAAAG/TAAGTA 2 -- us2k10--------
    rs23757541,2
    C,F,A,H--65611633(+) CATATA/GCCCCC 2 -- us2k121Minor allele frequency- G:0.46NS EA NA WA CSA 2347

    HapMap Linkage Disequilibrium report for AK4 (65613232 - 65697828 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for AK4:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2230166CNV Deletion18987734
    esv2676423CNV Deletion23128226
    esv2658072CNV Deletion23128226
    esv2446769CNV Deletion19546169
    nsv522027CNV Loss19592680
    nsv871049CNV Gain21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing AK4
    DNA2.0 Custom Variant and Variant Library Synthesis for AK4

    (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: 103030    OMIM disorders: --

    6 diseases for AK4:    
    About MalaCards
    venous thrombosis    labyrinthitis    tuberculosis    lung cancer
    cerebritis    thyroiditis


    AK4 for disorders           About GeneDecksing

    Human Genome Epidemiology (HuGE) Navigator: AK4 (2 documents)

    Export disorders for AK4 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 AK4 gene, integrated from 10 sources (see all 29):
    (articles sorted by number of sources associating them with AK4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Structure and expression of human mitochondrial adenylate kinase targeted to the mitochondrial matrix. (PubMed id 11485571)1, 2, 3, 9 Noma T.... Yoshinobu K. (Biochem. J. 2001)
    2. Characterization of human adenylate kinase 3 (AK3) cDNA and mapping of the AK3 pseudogene to an intron of the NF1 gene. (PubMed id 1639383)1, 2, 9 Xu G.... White R. (Genomics 1992)
    3. Evidence of an intact N-terminal translocation sequence of human mitochondrial adenylate kinase 4. (PubMed id 19766732)1, 2 Panayiotou C.... Karlsson A. (Int. J. Biochem. Cell Biol. 2010)
    4. Crystal structure of human adenylate kinase 4 (L171P) suggests the role of hinge region in protein domain motion. (PubMed id 19073142)1, 2 Liu R.... Gong W. (Biochem. Biophys. Res. Commun. 2009)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    6. Identification of a novel adenylate kinase system in the brain: cloning of the fourth adenylate kinase. (PubMed id 9813319)1, 9 Yoneda T....Takagi H. (Brain Res. Mol. Brain Res. 1998)
    7. 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)
    8. The human adenylate kinase 9 is a nucleoside mono- and diphosphate kinase. (PubMed id 23416111)2 Amiri M....Solaroli N. (amp 2013)
    9. A genome-wide search for common SNP x SNP interactions on the risk of venous thrombosis. (PubMed id 23509962)1 Greliche N....TrAcgouAt D.A. (BMC Med. Genet. 2013)
    10. Differential expression of adenylate kinase 4 in the context of disparate stress response strategies of HEK293 and HepG2 cells. (PubMed id 23474458)1 Kong F....Kim H.J. (Arch. Biochem. Biophys. 2013)

    (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: 205 HGNC: 363 AceView: AK3 Ensembl:ENSG00000162433 euGenes: HUgn205
    ECgene: AK4 Kegg: 205 H-InvDB: AK4

    (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 AK4 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 AK4 gene:
    Search GeneIP for patents involving AK4

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



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