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

AKD1 Gene

protein-coding   GIFtS: 47
GCID: GC06M109814

adenylate kinase domain containing 1

(Previous names: chromosome 6 open reading frame 224, adenylate kinase domain...)
(Previous symbols: C6orf224, AKD2, C6orf199)
 Explore 2 diseases affiliated with
AKD1 via our new
 Human Malady Compendium 
Biological research products
for AKD1
    

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

Aliases
Adenylate Kinase Domain Containing 11 2     FLJ421771
AKD21 2 3     MGC269541
C6orf1991 2 3     Chromosome 6 Open Reading Frame 1991
C6orf2241 2 3     Chromosome 6 Open Reading Frame 2241
Adenylate Kinase Domain Containing 21 2     RP1-70A9.12
DJ70A9.11     Adenylate Kinase Domain-Containing Protein 12
FLJ257911     Adenylate Kinase Domain-Containing Protein 23

External Ids:    HGNC: 338141   Entrez Gene: 2212642   Ensembl: ENSG000001550857   UniProtKB: Q5TCS83   

Export aliases for AKD1 gene to outside databases

Previous GC identifers: GC06M110060 GC06M107380


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

  --

(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_000006.11  NC_018917.1  NT_025741.15  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for AKD1
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for AKD1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat AKD1


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

Entrez Gene cytogenetic band: 6q21   Ensembl cytogenetic band:  6q21   HGNC cytogenetic band: 6q21

AKD1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
AKD1 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06M109814:  view genomic region     (about GC identifiers)

Start:
109,814,059 bp from pter      End:
110,012,420 bp from pter
Size:
198,362 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: AKD1_HUMAN, Q5TCS8 (See protein sequence)
Recommended Name: Adenylate kinase domain-containing protein 1  
Size: 1911 amino acids; 221413 Da
Sequence caution: Sequence=AAI01715.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=AAI11949.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAC05368.1;
Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: A6NL75 B2RDJ0 B6ZDM7 Q3MIS4 Q5I0W8 Q6ZNF1 Q6ZVR7 Q8N7C6 Q8WW00 Q96NF4
Alternative splicing: 6 isoforms:  Q5TCS8-4   Q5TCS8-1   Q5TCS8-2   Q5TCS8-3   Q5TCS8-5, Q6ZNF1-1   Q5TCS8-6   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for AKD1: NX_Q5TCS8

Post-translational modifications:

  • Isoform 1 is phosphorylated on Ser-7241
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q5TCS8

  • AKD1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_001138600.2  NP_659462.1  

    ENSEMBL proteins: 
     ENSP00000418771   ENSP00000419758   ENSP00000418670   ENSP00000347431   ENSP00000357944  
     ENSP00000285397   ENSP00000431394   ENSP00000407510   ENSP00000436325   ENSP00000410186  
     ENSP00000344637  

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    Uscn Proteins for AKD1


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    Uscn ELISAs and CLIAs for AKD1


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

    AKD1 for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR007029 YHS_dom
     IPR000850 Adenylate_kin
     IPR003593 AAA+_ATPase

    Graphical View of Domain Structure for InterPro Entry Q5TCS8

    ProtoNet protein and cluster: Q5TCS8

    1 Blocks protein family: IPB000850 Adenylate kinase

    UniProtKB/Swiss-Prot: AKD1_HUMAN, Q5TCS8
    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

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat AKD1
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    hsa-miR-3163 hsa-miR-3143
    SwitchGear 3'UTR luciferase reporter plasmidAKD1 3' UTR sequence
    Inhib. RNA
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AKD1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005524ATP binding IEA--
    GO:0017111nucleoside-triphosphatase activity IEA--
    GO:0019205nucleobase-containing compound kinase activity IEA--


    AKD1 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for AKD1:
     Synthetic lethal with Ras 


    (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 AKD1

    3 Interacting proteins for AKD1 (Q5TCS82, 3) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PEA15Q151213I2D: score=2 
    --Q96FS53, 2MINT-65059 I2D: score=2 
    --Q96FS53, 2MINT-65059 I2D: score=2 
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006139nucleobase-containing compound metabolic process IEA--


    AKD1 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 AKD1
    Search CenterWatch for drugs/clinical trials and news about AKD1 

    (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 AKD1 gene (4 alternative transcripts): 
    NM_001145128.2  NM_145025.4  NM_001001706.2  NM_173559.1  

    Unigene Cluster for AKD1:

    Adenylate kinase domain containing 1
    Hs.205144  [show with all ESTs]
    Unigene Representative Sequence: NM_001145128
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000470564 ENST00000490722 ENST00000491875 ENST00000355283(uc011eat.1)
    ENST00000466992 ENST00000368948 ENST00000285397(uc003ptr.4) ENST00000524674
    ENST00000448084 ENST00000532976(uc003pts.2) ENST00000424296(uc011eas.1 uc003ptn.2)
    ENST00000341338

    miRNA
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    2 QIAGEN miScript miRNA Assays for microRNAs that regulate AKD1:
    hsa-miR-3163 hsa-miR-3143
    SwitchGear 3'UTR luciferase reporter plasmidAKD1 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 AKD1
    OriGene shRNA RFP: AKD1
    OriGene siRNA: AKD1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat AKD1
    Clone
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    Additional cDNA sequence: 

    AK055538.1 AK098657.1 AK124171.1 AK131244.1 AK315561.1 AL832162.1 BC022031.2 BC087860.1 
    BC101714.1 BC111948.1 BC143533.1 

    11 DOTS entries:

    DT.40127880  DT.451795  DT.40285647  DT.99933183  DT.100731436  DT.121363568  DT.75188990  DT.121363602 
    DT.40125645  DT.75188579  DT.97804040 

    24/28 AceView cDNA sequences (see all 28):

    AK055538 BX097770 BM674969 AA508398 AA830897 AI733500 BG717830 BG719542 
    AA994767 BU959738 NM_145025 BM717470 BX348903 BC022031 BI596869 BM986886 
    AL832162 AI377361 AI792208 CD689554 AW129963 AK092103 R57653 AX747355 

    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™, 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

    AKD1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

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

    About this image

    AKD1 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 AKD1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for AKD1

    SOURCE GeneReport for Unigene cluster: Hs.205144
        SABiosciences Custom PCR Arrays for AKD1
    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AKD1

    (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 chordates.

    Orthologs for AKD1 gene from 4/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Akd11 , 5 adenylate kinase domain containing 11, 5 77.27(n)1
    73.39(a)1
      10 (22.23 cM)5
    6339791  XM_003084819.11  XP_003084867.11 
     413162475 
    chicken
    (Gallus gallus)
    Aves AKD11 chromosome 6 open reading frame 199 65.19(n)
    55.27(a)
      771077  XM_003641036.1  XP_003641084.1 
    lizard
    (Anolis carolinensis)
    Reptilia AKD16
    --
    54(a)
    1 ↔ 1
    1(191167888-191251647)
    zebrafish
    (Danio rerio)
    Actinopterygii si:ch211-199m3.41 si:ch211-199m3.4 55.63(n)
    49.04(a)
      557708  XM_680817.4  XP_685909.4 


    ENSEMBL Gene Tree for AKD1 (if available)
    TreeFam Gene Tree for AKD1 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (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

    10/3345 NCBI SNPs in AKD1 are shown (see all 3345    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1823523991,2
    --109813571(+) GCAACC/TCCCAG 1 -- ds50010--------
    rs1866804561,2
    --109813627(+) AATAGA/GCTTCC 1 -- ds50010--------
    rs121920701,2
    H,--109813686(+) TATATA/TAAAAG 1 -- ds50015Minor allele frequency- T:0.01NS EA NA 524
    rs1168730631,2
    F,--109813820(+) TTTTTT/CATTTT 1 -- ds50011Minor allele frequency- C:0.04EA 120
    rs94871261,2
    F,--109814029(+) ATGAAT/CACTTA 1 -- ds50011Minor allele frequency- C:0.07WA 118
    rs1918006831,2
    --109814205(+) TAACAG/TTTAAT 1 -- ut310--------
    rs735209561,2
    C,--109814210(+) TTTAAT/CGAGTA 1 -- ut312Minor allele frequency- C:0.04WA 120
    rs176021091,2
    C,F,--109814342(+) TCAAAG/ATTCAG 1 -- ut315Minor allele frequency- A:0.04NA WA 372
    rs10546071,2
    C,F,O,A,H,--109814411(-) TGCCAG/ACCAGG 1 -- ut3122Minor allele frequency- A:0.35MN NS EA NA WA CSA 2526
    rs1413158081,2
    C,F,--109814558(+) CTGCTA/GTCACC 1 -- ut311Minor allele frequency- G:0.01EU 1321

    HapMap Linkage Disequilibrium report for AKD1 (109814059 - 110012420 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for AKD1
         2 CNVs: 0089 32832

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    (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

    AKD1 for disorders           About GeneDecksing

    2 diseases for AKD1:    About MalaCards
    hepatitis c    hepatitis

    Human Genome Epidemiology (HuGE) Navigator: AKD1 (2 documents)

    Export disorders for AKD1 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 AKD1 gene, integrated from 9 sources (see all 11):
    (articles sorted by number of sources associating them with AKD1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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. (2004)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    3. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (2003)
    4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)
    5. Generalist genes analysis of DNA markers associated w ith mathematical ability and disability reveals shared influence across ages an d abilities. (PubMed id 20602751)1 Docherty S.J....Plomin R. (2010)
    6. Dynamics of cullin-RING ubiquitin ligase network revea led by systematic quantitative proteomics. (PubMed id 21145461)1 Bennett E.J....Harper J.W. (2010)
    7. Genetic variation in IL28B predicts hepatitis C treat ment-induced viral clearance. (PubMed id 19684573)1 Ge D....Goldstein D.B. (2009)
    8. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)
    9. A human protein-protein interaction network: a resource for annotating the proteome. (PubMed id 16169070)1 Stelzl U.... Wanker E.E. (2005)
    10. 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. (2002)

    (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: 221264 HGNC: 33814 AceView: C6orf199 Ensembl:ENSG00000155085 euGenes: HUgn221264
    ECgene: AKD1 H-InvDB: AKD1

    (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 AKD1 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 AKD1 gene:
    Search GeneIP for patents involving AKD1

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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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