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ADCK5 Gene

protein-coding   GIFtS: 51
GCID: GC08P145596

AarF Domain Containing Kinase 5

  See 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
AarF Domain Containing Kinase 51 2
Uncharacterized AarF Domain-Containing Protein Kinase 52
EC 2.7.11.-3

External Ids:    HGNC: 217381   Entrez Gene: 2030542   Ensembl: ENSG000001731377   UniProtKB: Q3MIX33   

Export aliases for ADCK5 gene to outside databases

Previous GC identifers: GC08P145201 GC08P145602 GC08P145561 GC08P140711


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for ADCK5 Gene:
ADCK5 (aarF domain containing kinase 5) is a protein-coding gene. Diseases associated with ADCK5 include malaria. GO annotations related to this gene include protein serine/threonine kinase activity. An important paralog of this gene is ADCK1.

UniProtKB/Swiss-Prot: ADCK5_HUMAN, Q3MIX3
Function: The function of this protein is not yet clear. It is not known if it has protein kinase activity and
what type of substrate it would phosphorylate (Ser, Thr or Tyr)




(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_000008.11  NT_008046.17  NC_018919.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ADCK5 gene promoter:
         AML1a   Pax-5   NRSF form 1   NRSF form 2   Max   c-Rel   PPAR-gamma1   STAT3   PPAR-gamma2   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidADCK5 promoter sequence
   Search Chromatin IP Primers for ADCK5

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ADCK5


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

Entrez Gene cytogenetic band: 8q24.3   Ensembl cytogenetic band:  8q24.3   HGNC cytogenetic band: 8q24.3

ADCK5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ADCK5 gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08P145596:  view genomic region     (about GC identifiers)

Start:
145,596,790 bp from pter      End:
145,618,457 bp from pter
Size:
21,668 bases      Orientation:
plus strand

1 alternative location:
Chr8+,NW_003315924 143,301-162,501     

(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: ADCK5_HUMAN, Q3MIX3 (See protein sequence)
Recommended Name: Uncharacterized aarF domain-containing protein kinase 5  
Size: 580 amino acids; 65897 Da
Sequence caution: Sequence=AAH31570.1; Type=Erroneous initiation;
Secondary accessions: B3KS46 Q5U4P1 Q6P2S4 Q8N5V3

Explore the universe of human proteins at neXtProt for ADCK5: NX_Q3MIX3

Explore proteomics data for ADCK5 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See ADCK5 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_777582.4  
    ENSEMBL proteins: 
     ENSP00000473494   ENSP00000431875   ENSP00000310547   ENSP00000435155   ENSP00000436484  

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    Cloud-Clone Corp. CLIAs for ADCK5


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    IUPHAR Guide to PHARMACOLOGY protein family classification: aarF domain containing kinase 5
    ABC1-B subfamily

    2 InterPro protein domains:
     IPR011009 Kinase-like_dom
     IPR004147 UbiB_dom

    Graphical View of Domain Structure for InterPro Entry Q3MIX3

    ProtoNet protein and cluster: Q3MIX3

    1 Blocks protein domain: IPB004147 ABC1 protein

    UniProtKB/Swiss-Prot: ADCK5_HUMAN, Q3MIX3
    Similarity: Belongs to the protein kinase superfamily. ADCK protein kinase family
    Similarity: Contains 1 protein kinase domain


    ADCK5 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: ADCK5_HUMAN, Q3MIX3
    Function: The function of this protein is not yet clear. It is not known if it has protein kinase activity and
    what type of substrate it would phosphorylate (Ser, Thr or Tyr)

         Enzyme Number (IUBMB): EC 2.7.11.-1

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004674protein serine/threonine kinase activity IEA--
    GO:0016772transferase activity, transferring phosphorus-containing groups ----
         
    ADCK5 for ontologies           About GeneDecksing


    Phenotypes:
         4 GenomeRNAi human phenotypes for ADCK5:
     Decreased 12E8 tau but not tot  Decreased focal adhesion (FA)   Decreased substrate adherent c  Increased cell death HMECs cel 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ADCK5
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ADCK5
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ADCK5

    miRNA
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    Block miRNA regulation of human, mouse, rat ADCK5 using miScript Target Protectors
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    Predesigned siRNA for gene silencing in human, mouse, rat ADCK5

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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
    ADCK5_HUMAN, Q3MIX3: Membrane; Single-pass membrane protein (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion3
    cytosol2
    plasma membrane2

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IEA--
    GO:0016021integral component of membrane IEA--

    ADCK5 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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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ADCK5
    Interactions:

        Search GeneGlobe Interaction Network for ADCK5

    STRING Interaction Network Preview (showing 5 interactants - click image to see 11)

    Selected Interacting proteins for ADCK5 (Q3MIX32 ENSP000003105474) via UniProtKB, MINT, STRING, and/or I2D (see all 12)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RHOT1ENSP000003511324STRING: ENSP00000351132
    RHOT2ENSP000003219714STRING: ENSP00000321971
    COQ9ENSP000002625074STRING: ENSP00000262507
    COQ10AENSP000003125874STRING: ENSP00000312587
    COQ10BENSP000002639604STRING: ENSP00000263960
    About this table

    (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 ADCK5



    (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 ADCK5 gene: 
    NM_174922.4  

    Unigene Cluster for ADCK5:

    AarF domain containing kinase 5
    Hs.283374  [show with all ESTs]
    Unigene Representative Sequence: BC032402
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000534714 ENST00000526231 ENST00000533715 ENST00000529654(uc003zch.3 uc003zci.3)
    ENST00000308860 ENST00000525136 ENST00000532190 ENST00000526833
    miRNA
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    Inhib. RNA
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    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ADCK5
      QuantiTect SYBR Green Assays in human, mouse, rat ADCK5
      QuantiFast Probe-based Assays in human, mouse, rat ADCK5

    Additional mRNA sequence: 

    AK092773.1 BC031570.1 BC032402.1 BC064345.1 BC085013.1 BC101659.1 BC143322.1 BC143326.1 

    10 DOTS entries:

    DT.100024901  DT.409623  DT.75178191  DT.95289249  DT.100813099  DT.95354659  DT.121469610  DT.121469613 
    DT.95369290  DT.97804287 

    Selected AceView cDNA sequences (see all 75):

    CR605986 BC064345 BQ705949 BM549923 BM792180 CA448067 BU528916 NM_174922 
    CR610562 CB106335 BU633298 AX747720 AK092773 BM930793 BC031570 BU622478 
    BM146288 CF140469 BM919873 BI825038 BQ357683 CF140540 BX343195 BI918384 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for ADCK5 (see all 14)    About this scheme

    ExUns: 1 ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9a · 9b · 9c ^ 10a · 10b · 10c ^ 11a · 11b ^ 12 ^ 13 ^ 14a · 14b ^ 15a · 15b ^ 16 ^
    SP1:                                -     -                       -     -                                                                       -               
    SP2:                                -                             -     -                                                                                       
    SP3:                                -     -                       -     -                                                                                       
    SP4:                                -     -                             -                                                                                       
    SP5:                                                                    -                                                                                       

    ExUns: 17 ^ 18 ^ 19 ^ 20
    SP1:                        
    SP2:                        
    SP3:                        
    SP4:                        
    SP5:                        


    ECgene alternative splicing isoforms for ADCK5

    (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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    ADCK5 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CGGCTGACCG
    ADCK5 Expression
    About this image


    ADCK5 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
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Pancreas (Endocrine System)
             Islets of Langerhans
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
    ADCK5 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ADCK5 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.283374
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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)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for ADCK5 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Adck51 , 5 aarF domain containing kinase 51, 5 81.75(n)1
    81(a)1
      15 (36.10 cM)5
    2688221  NM_172960.31  NP_766548.21 
     765763585 
    lizard
    (Anolis carolinensis)
    Reptilia ADCK56
    aarF domain containing kinase 5
    61(a)
    1 ↔ 1
    GL343636.1(103791-138111)
    zebrafish
    (Danio rerio)
    Actinopterygii adck51 aarF domain containing kinase 5 63.7(n)
    61.43(a)
      100001584  NM_001202526.1  NP_001189455.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG76161 CG7616 56.66(n)
    48.67(a)
      39260  NM_001274776.1  NP_001261705.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes --
    Putative protein of unknown function; the authenti...
    24(a)
    1 → many
    XII(642627-644336) YLR253W


    ENSEMBL Gene Tree for ADCK5 (if available)
    TreeFam Gene Tree for ADCK5 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ADCK5 gene
    ADCK12  
    Selected SIMAP similar genes for ADCK5 using alignment to 4 protein entries:     ADCK5_HUMAN (see all proteins) (see all similar genes):
    AURA2    DCTN5    DNMT1    NF2    RNF217    ZNF28
    TMSB15B    APOD    FAM210A    NSRP1    ZNF737    TSEN2
    ZNF461    ZNF738    KDM5B    BECN1    UTY    ZNF763

    ADCK5 for paralogs           About GeneDecksing



    (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 ADCK5 (see all 547)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1454168681,2
    C--145595855(+) CTCCCA/GGGATG 1 -- us2k10--------
    rs1411794981,2
    C--145595888(+) CCTTCA/GTTCAT 1 -- us2k10--------
    rs1870607421,2
    --145596055(+) CTCACA/GTCACG 1 -- us2k10--------
    rs1157641991,2
    C,F--145596138(+) GTTGCC/TGAGGG 1 -- us2k12Minor allele frequency- T:0.04WA NA 238
    rs756744221,2
    C,F--145596535(+) GGGCCA/CCTTGT 1 -- us2k15Minor allele frequency- C:0.50NA CSA EA 245
    rs1914849241,2
    --145596555(+) AGGGGC/TCACTG 1 -- us2k10--------
    rs1842782641,2
    C--145596624(+) GGCCAC/TTGGTG 1 -- us2k10--------
    rs1887788931,2
    C--145596626(+) CCACTG/TGTGGG 1 -- us2k10--------
    rs1449936531,2
    --145596712(+) GGCCAC/TTGGTG 1 -- us2k10--------
    rs1388650601,2
    --145596808(+) GCCAAA/GCTGAC 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for ADCK5 (145596790 - 145618457 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for ADCK5 (see all 31):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv1669507CNV Deletion17803354
    esv1712288CNV Deletion17803354
    esv1695178CNV Deletion17803354
    nsv821196CNV Deletion20802225
    esv1030070CNV Insertion17803354
    esv1578252CNV Insertion17803354
    dgv7966n71CNV Loss21882294
    nsv891841CNV Loss21882294
    nsv891846CNV Loss21882294
    nsv512079CNV Loss21212237

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ADCK5
    DNA2.0 Custom Variant and Variant Library Synthesis for ADCK5

    (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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    1 disease for ADCK5:    
    About MalaCards
    malaria


    ADCK5 for disorders           About GeneDecksing

    Genetic Association Database (GAD): ADCK5
    Human Genome Epidemiology (HuGE) Navigator: ADCK5 (1 document)

    Export disorders for ADCK5 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 ADCK5 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with ADCK5)
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    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. DNA sequence and analysis of human chromosome 8. (PubMed id 16421571)1, 2 Nusbaum C....Lander E.S. (Nature 2006)
    3. 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)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    5. 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)
    6. Toward an understanding of the protein interaction network of the human liver. (PubMed id 21988832)1 Wang J....Yang X. (Mol. Syst. Biol. 2011)
    7. The SH3 domain of postsynaptic density 95 mediates inflammatory pain through phosphatidylinositol-3-kinase recruitment. (PubMed id 20467438)1 Arbuckle M.I....Grant S.G. (EMBO Rep. 2010)
    8. Patterns of somatic mutation in human cancer genomes. (PubMed id 17344846)2 Greenman C.... Stratton M.R. (Nature 2007)
    9. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 203054 HGNC: 21738 AceView: ADCK5 Ensembl:ENSG00000173137 euGenes: HUgn203054
    ECgene: ADCK5 H-InvDB: ADCK5

    (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 ADCK5 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 ADCK5 gene:
    Search GeneIP for patents involving ADCK5

    GeneCards and IP:
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