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

AK8 Gene

protein-coding   GIFtS: 45
GCID: GC09M135601

adenylate kinase 8

(Previous name: chromosome 9 open reading frame 98 )
(Previous symbol: C9orf98)
 Explore 1 disease affiliated with
AK8 via our new
 Human Malady Compendium 
Biological research products
for AK8
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Adenylate Kinase 81 2     DDX312
C9orf981 2 3     RP11-143F18.12
FLJ327041     Putative Adenylate Kinase-Like Protein C9orf982
Chromosome 9 Open Reading Frame 981     EC 2.7.4.33

External Ids:    HGNC: 265261   Entrez Gene: 1580672   Ensembl: ENSG000001656957   UniProtKB: Q96MA63   

Export aliases for AK8 gene to outside databases


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

UniProtKB/Swiss-Prot: KAD8_HUMAN, Q96MA6
Function: Adenylate kinase. Has highest activity toward AMP, and weaker activity toward dAMP, CMP and dCMP




(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000009.11  NC_018920.1  NT_035014.4  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for AK8
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidAK8 promoter sequence
   Search SABiosciences Chromatin IP Primers for AK8

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat AK8


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

Entrez Gene cytogenetic band: 9q34.13   Ensembl cytogenetic band:  9q34.13   HGNC cytogenetic band: 9q34.13

AK8 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
AK8 gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09M135601:  view genomic region     (about GC identifiers)

Start:
135,600,965 bp from pter      End:
135,754,198 bp from pter
Size:
153,234 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: KAD8_HUMAN, Q96MA6 (See protein sequence)
Recommended Name: Adenylate kinase 8  
Size: 479 amino acids; 54926 Da
Subcellular location: Cytoplasm, cytosol
Secondary accessions: A8K821 Q8N9W9
Alternative splicing: 2 isoforms:  Q96MA6-1   Q96MA6-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for AK8: NX_Q96MA6

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q96MA6

  • AK8 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_689785.1  
    ENSEMBL proteins: 
     ENSP00000298545  

    Human Recombinant Protein Products: 
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    Uscn Proteins for AK8

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol IEA--


    AK8 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for AK8


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    AK8 for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR000850 Adenylate_kin
     IPR007862 Adenylate_kinase_lid-dom
     IPR026867 AK7/AK8

    Graphical View of Domain Structure for InterPro Entry Q96MA6

    ProtoNet protein and cluster: Q96MA6

    1 Blocks protein family: IPB000850 Adenylate kinase

    UniProtKB/Swiss-Prot: KAD8_HUMAN, Q96MA6
    Similarity: Belongs to the adenylate kinase family


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: KAD8_HUMAN, Q96MA6
    Function: Adenylate kinase. Has highest activity toward AMP, and weaker activity toward dAMP, CMP and dCMP
    Catalytic activity: ATP + AMP = 2 ADP
    Biophysicochemical properties: Kinetic parameters: KM=4.1 uM for AMP; KM=630 uM for dAMP; KM=1.4 uM for CMP; Vmax=2400
    pmol/min/ug enzyme with AMP as substrate; Vmax=1360 pmol/min/ug enzyme with dAMP as substrate; Vmax=190 pmol/min/ug
    enzyme with CMP as substrate;

    Enzyme Number (IUBMB): EC 2.7.4.31

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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat AK8
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    Inhib. RNA
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    Clone
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AK8

    Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004017adenylate kinase activity IDA--
    GO:0004127cytidylate kinase activity IDA--
    GO:0005524ATP binding IEA--


    AK8 for ontologies           About GeneDecksing


    3 GenomeRNAi human phenotypes for AK8:
     G0/1 arrest  Increased G1 DNA content  Weaker migration 

    Animal Models:
         5 MGI mutant phenotypes (inferred from 1 allele(MGI details for Ak8):
     behavior/neurological  craniofacial  growth/size  nervous system  reproductive system 

    AK8 for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for AK8

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0021591ventricular system development IEA--


    AK8 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for AK8

    1 DrugBank Compound for AK8    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Bis(Adenosine)-5'-Pentaphosphate-- --target--17139284 17016423 10592235

    Search CenterWatch for drugs/clinical trials and news about AK8 / KAD8 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    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, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for AK8 gene: 
    NM_152572.2  

    Unigene Cluster for AK8:

    Adenylate kinase 8
    Hs.421340  [show with all ESTs]
    Unigene Representative Sequence: BC037402
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000298545(uc004cbu.1) ENST00000477396(uc010mzx.1) ENST00000476719(uc004cbv.1)
    ENST00000467161 ENST00000482422

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat AK8
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    SwitchGear 3'UTR luciferase reporter plasmidAK8 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for AK8 (see all 4)
    OriGene shRNA RFP: AK8
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    Clone
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat AK8

    Additional cDNA sequence: 

    AK057266.1 AK093446.1 AK292186.1 BC034776.1 BC037402.1 BC050576.1 

    10 DOTS entries:

    DT.203791  DT.100019553  DT.100748848  DT.101981125  DT.97804340  DT.86848944  DT.100648345  DT.75118489 
    DT.95079216  DT.121161578 

    24/46 AceView cDNA sequences (see all 46):

    AI368484 BM684476 AI362274 AX748132 BI828586 BM983192 AI359456 BC037402 
    BC050576 BX100680 AA580077 AX748058 AK057266 BC034776 NM_152572 BI767614 
    BX091015 CD515464 AK093446 BU617945 AK093333 BM926674 AL040402 AL040403 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for AK8    About this scheme

    ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15
    SP1:                    -     -                                                                       -               
    SP2:                    -                             -                                               -               
    SP3:                                                  -                                                               
    SP4:                                                                                            -     -               
    SP5:                                                                                                                  


    ECgene alternative splicing isoforms for AK8

    (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

    AK8 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GAGATCCAGG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image

    AK8 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    Posterior foregut-like cells (A scalable, suspensi...)
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See AK8 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for AK8

    SOURCE GeneReport for Unigene cluster: Hs.421340
        SABiosciences Custom PCR Arrays for AK8
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    In Situ
    Assay Products:
     

     
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    (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 eukaryotes.

    Orthologs for AK8 gene from 8/24 species (see all 24)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ak81 , 5 adenylate kinase 81, 5 78.38(n)1
    77.2(a)1
      2 (19.38 cM)5
    688701  NM_001033874.21  NP_001029046.21 
     287001645 
    chicken
    (Gallus gallus)
    Aves AK81 adenylate kinase 8 64.14(n)
    58.23(a)
      430522  XM_428077.3  XP_428077.3 
    lizard
    (Anolis carolinensis)
    Reptilia AK86
    --
    56(a)
    1 ↔ 1
    GL343916.1(101076-102512)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.165662 Xenopus laevis transcribed sequence with weak similarity more 73.72(n)    CB207268.1 
    zebrafish
    (Danio rerio)
    Actinopterygii ak81 adenylate kinase 8 55.16(n)
    47.37(a)
      553671  NM_001020644.1  NP_001018480.1 
    honey bee
    (Apis mellifera)
    Insecta --
    --
    13(a)
    1 ↔ 1
    Group3.27(320150-322246)
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AMK21 adenosine monophosphate kinase 44.71(n)
    36.54(a)
      834835  NM_124158.3  NP_199595.1 
    rice
    (Oryza sativa)
    Liliopsida Os08g01093001 hypothetical protein 47.12(n)
    38.46(a)
      4344470  NM_001067345.1  NP_001060810.1 


    ENSEMBL Gene Tree for AK8 (if available)
    TreeFam Gene Tree for AK8 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for AK8 gene
    AK32  AK42  

    AK8 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/2694 NCBI SNPs in AK8 are shown (see all 2694    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs59009891,2
    C--105096842(+) TGTGT-/CCCCCCA 1 -- int13Minor allele frequency- CC:0.17NA CSA 6
    rs112847021,2
    C--105201460(+) CATTT-/AAAAAA 1 -- int1 trp31Minor allele frequency- A:0.00NA 2
    rs1927316641,2
    --135600468(+) TGGGAC/TTACAG 1 -- int10--------
    rs1847075071,2
    --135600487(+) CACCAC/TGCCCA 1 -- int10--------
    rs70363191,2
    C,--135600572(+) gatccA/Gcacgc 1 -- int10--------
    rs1891632471,2
    --135600577(+) ACACGC/TCTCGG 1 -- int10--------
    rs70395331,2
    C,F,A,--135600588(+) cctccC/Taaagt 1 -- int13Minor allele frequency- T:0.33WA CSA 6
    rs1455238481,2
    --135600632(+) CCAAGA/GTGGGT 1 -- int10--------
    rs70196091,2
    C,F,A,H,--135600687(+) GCGCTA/GAGATC 1 -- int117Minor allele frequency- N:0.01NS EA NA WA CSA 998
    rs1920259771,2
    --135600699(+) TCATCA/GGCATC 1 -- int10--------

    HapMap Linkage Disequilibrium report for AK8 (135600965 - 135754198 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for AK8: --

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing AK8
    DNA2.0 Custom Variant and Variant Library Synthesis for AK8

    (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.)
    About This Section

    AK8 for disorders           About GeneDecksing

    1 disease for AK8:    About MalaCards
    adhd


    Export disorders for AK8 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 AK8 gene, integrated from 9 sources (see all 12):
    (articles sorted by number of sources associating them with AK8)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The characterization of human adenylate kinases 7 and 8 demonstrates differences in kinetic parameters and structural organization a mong the family of adenylate kinase isoenzymes. (PubMed id 21080915)1, 2, 3 Panayiotou C....Karlsson A. (2010)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)
    4. Coeliac disease associated risk variants in TNFAIP3 and REL implicate altered NF-{kappa}B signalling. (PubMed id 19240061)1 Trynka G....Wijmenga C. (2009)
    5. Molecular genetics of adult ADHD: converging evidence from genome-wide association and extended pedigree linkage studies. (PubMed id 18839057)1 Lesch K.P....Jacob C. (2008)
    6. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (2007)
    7. Drugs, their targets and the nature and number of dru g targets. (PubMed id 17016423)7 Imming P....Meyer A. (2006)
    8. How many drug targets are there? (PubMed id 17139284)7 Overington J.P....Hopkins A.L. (2006)
    9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
    10. DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)2 Humphray S.J.... Dunham I. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 158067 HGNC: 26526 AceView: C9orf98 Ensembl:ENSG00000165695 euGenes: HUgn158067
    ECgene: AK8 H-InvDB: AK8

    (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 AK8 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for AK8 gene:
    Search GeneIP for patents involving AK8

    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
    In Situ Hybridization Assays from
    Advanced Cell Diagnostics
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    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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