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

ADAT1 Gene

protein-coding   GIFtS: 51
GCID: GC16M075632

adenosine deaminase, tRNA-specific 1

 Explore 1 disease affiliated with
ADAT1 via our new
 Human Malady Compendium 
Biological research products
for ADAT1
    

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

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Adenosine Deaminase, TRNA-Specific 11 2     TRNA-Specific Adenosine Deaminase 12
TRNA-Specific Adenosine-37 Deaminase2 3     EC 3.5.4.-3
HADAT12     HADAT12
Adenosine Deaminase Acting On TRNA2     EC 3.5.48

External Ids:    HGNC: 2281   Entrez Gene: 235362   Ensembl: ENSG000000654577   OMIM: 6042305   UniProtKB: Q9BUB43   
ORGUL members:         
NONCODE:n410023    

Export aliases for ADAT1 gene to outside databases

Previous GC identifers: GC16M066563 GC16M076593 GC16M075371 GC16M075412 GC16M074190 GC16M061385


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

Entrez Gene summary for ADAT1:
This gene is a member of the ADAR (adenosine deaminase acting on RNA) family. Using site-specific adenosine
modification, proteins encoded by these genes participate in the pre-mRNA editing of nuclear transcripts. The protein
encoded by this gene, tRNA-specific adenosine deaminase 1, is responsible for the deamination of adenosine 37 to
inosine in eukaryotic tRNA. Alternatively spliced transcript variants have been described. (provided by RefSeq, Jul
2010)

UniProtKB/Swiss-Prot: ADAT1_HUMAN, Q9BUB4
Function: Specifically deaminates adenosine-37 to inosine in tRNA-Ala




(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_000016.9  NC_018927.1  NT_010498.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ADAT1 gene promoter:
         HOXA9   HOXA9B   Pax-5   Lmo2   Tal-1beta   E47   Meis-1b   Hand1   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidADAT1 promoter sequence
   Search SABiosciences Chromatin IP Primers for ADAT1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ADAT1


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

Entrez Gene cytogenetic band: 16q23.1   Ensembl cytogenetic band:  16q23.1   HGNC cytogenetic band: 16q23

ADAT1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ADAT1 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16M075632:  view genomic region     (about GC identifiers)

Start:
75,630,879 bp from pter      End:
75,657,221 bp from pter
Size:
26,343 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: ADAT1_HUMAN, Q9BUB4 (See protein sequence)
Recommended Name: tRNA-specific adenosine deaminase 1  
Size: 502 amino acids; 55392 Da
Cofactor: Binds 1 inositol hexakisphosphate (IP6) per subunit (By similarity)
Secondary accessions: Q9NVB7 Q9UNG3
Alternative splicing: 2 isoforms:  Q9BUB4-1   Q9BUB4-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ADAT1: NX_Q9BUB4

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9BUB4

  • 4/7 DME Specific Peptides for ADAT1 (Q9BUB4) (see all 7)
     LNDSHAE  VYRTGAK  PIYLSAVV  KPGRGDRT 

    ADAT1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_036223.2  
    ENSEMBL proteins: 
     ENSP00000455000   ENSP00000455121   ENSP00000456768   ENSP00000310015   ENSP00000457999  
     ENSP00000455108   ENSP00000457501   ENSP00000456751  

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    Uscn Proteins for ADAT1


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

    ADAT1 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR002466 A_deamin

    Graphical View of Domain Structure for InterPro Entry Q9BUB4

    ProtoNet protein and cluster: Q9BUB4

    1 Blocks protein family: IPB002466 Adenosine deaminase/editase

    UniProtKB/Swiss-Prot: ADAT1_HUMAN, Q9BUB4
    Similarity: Belongs to the ADAT1 family
    Similarity: Contains 1 A to I editase domain


    (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: ADAT1_HUMAN, Q9BUB4
    Function: Specifically deaminates adenosine-37 to inosine in tRNA-Ala

    Enzyme Numbers (IUBMB): EC 3.5.42 EC 3.5.4.-1

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    Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003723RNA binding IMP10430867
    GO:0004000adenosine deaminase activity ----
    GO:0008251tRNA-specific adenosine deaminase activity IMP10430867
    GO:0046872metal ion binding IEA--


    ADAT1 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for ADAT1:
     Synthetic lethal with c-Myc af 


    (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 ADAT1

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    2 Interacting proteins for ADAT1 (ENSP000003100154) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBCENSP000003448184STRING: ENSP00000344818
    ELAVL1ENSP000003852694STRING: ENSP00000385269
    About this table

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006396RNA processing ----
    GO:0008033tRNA processing IMP10430867


    ADAT1 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 ADAT1

    1 HMDB Compound for ADAT1    About this table
    CompoundSynonyms CAS #PubMed Ids
    Inosine(-)-Inosine (see all 41)58-63-9--
    Search CenterWatch for drugs/clinical trials and news about ADAT1 

    (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 ADAT1 gene: 
    NM_012091.3  

    Unigene Cluster for ADAT1:

    Adenosine deaminase, tRNA-specific 1
    Hs.729312  [show with all ESTs]
    Unigene Representative Sequence: NR_036460
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000568510 ENST00000566450 ENST00000566445(uc002fep.2 uc002feo.2)
    ENST00000568478 ENST00000307921 ENST00000568001 ENST00000567281 ENST00000565109
    ENST00000564657 ENST00000562374

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    hsa-miR-374b* hsa-miR-3678-3p hsa-miR-4251 hsa-miR-1297 hsa-miR-1303 hsa-miR-29a* hsa-miR-26a hsa-miR-921
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    Inhib. RNA
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    Additional cDNA sequence: 

    AF125188.1 AK001687.1 AK296834.1 AK314652.1 BC002758.2 NR_036460.1 

    12 DOTS entries:

    DT.120669817  DT.100748746  DT.306091  DT.86842024  DT.100667523  DT.100676712  DT.120669710  DT.65284745 
    DT.95167139  DT.100721026  DT.424050  DT.427454 

    24/203 AceView cDNA sequences (see all 203):

    BI334712 CR620108 AI222794 BX280059 AA962141 CA411600 CB132377 BG823323 
    AA203681 AL598909 AI248552 AW004791 BF197521 BF513691 AA398169 BU623255 
    BU173659 BM931301 BP358039 R34251 BX352992 CA416245 AI333375 BP348916 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for ADAT1    About this scheme

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


    ECgene alternative splicing isoforms for ADAT1

    (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

    ADAT1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TCCTGTAGTG

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

    About this image
    See ADAT1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ADAT1

    SOURCE GeneReport for Unigene cluster: Hs.729312

    UniProtKB/Swiss-Prot: ADAT1_HUMAN, Q9BUB4
    Tissue specificity: Ubiquitously expressed

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    In Situ
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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 ADAT1 gene from 7/21 species (see all 21)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves ADAT11 adenosine deaminase, tRNA-specific 1 63.92(n)
    58.23(a)
      415886  NM_001012779.1  NP_001012797.1 
    lizard
    (Anolis carolinensis)
    Reptilia ADAT16
    --
    47(a)
    1 ↔ 1
    GL343483.1(262354-266674)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.189612 Transcribed sequence with weak similarity to protein more 76.54(n)    BX772148.1 
    zebrafish
    (Danio rerio)
    Actinopterygii adat11 adenosine deaminase, tRNA-specific 1 55.48(n)
    50.33(a)
      792614  NM_001082887.1  NP_001076356.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta adat1 CG16889-PA 49.92(n)
    39.41(a)
      34787  NM_135832.2  NP_609676.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT1G017601 Adenosine-deaminase (editase) domain-containing protein 43.85(n)
    34.22(a)
      839252  NM_100059.3  NP_171681.3 
    rice
    (Oryza sativa)
    Liliopsida Os04g06835001 hypothetical protein 52.01(n)
    45.05(a)
      4337445  NM_001060837.1  NP_001054302.1 


    ENSEMBL Gene Tree for ADAT1 (if available)
    TreeFam Gene Tree for ADAT1 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ADAT1 gene
    ADAR2  ADARB22  ADARB12  ADAD22  ADAD12  
    1 SIMAP similar gene for ADAT1 using alignment to 7 protein entries:     ADAT1_HUMAN (see all proteins):
    NASP

    ADAT1 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

    10/604 NCBI SNPs in ADAT1 are shown (see all 604    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1402355341,2
    --75632120(+) TAGGCA/GTGCGC 2 -- ds50010--------
    rs1162353171,2
    F,--75632162(+) TAGAAA/CGGGGC 2 -- ds50011Minor allele frequency- C:0.06WA 118
    rs1817277761,2
    --75632175(+) CACCAC/TGTTGG 2 -- ds50010--------
    rs1864393271,2
    --75632263(+) CACTGC/TACCCG 2 -- ut31 nc-transcript-variant0--------
    rs1148852031,2
    F,--75632267(+) GCACCC/TGGCCA 2 -- ut31 nc-transcript-variant1Minor allele frequency- T:0.04WA 118
    rs1455560011,2
    --75632451(+) TCACTC/GTGTCA 2 -- ut31 nc-transcript-variant0--------
    rs587195661,2
    --75632561(+) ACAGGC/TGTGCA 2 -- ut31 nc-transcript-variant0--------
    rs1408212371,2
    --75632565(+) GCGTGC/TACCAC 2 -- nc-transcript-variantut310--------
    rs1896726281,2
    --75632605(+) AGAGAC/TGGGGT 2 -- nc-transcript-variantut310--------
    rs1826969451,2
    --75632636(+) GGTCTC/TGAACT 2 -- ut31 nc-transcript-variant0--------

    HapMap Linkage Disequilibrium report for ADAT1 (75630879 - 75657221 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for ADAT1: --

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ADAT1
    DNA2.0 Custom Variant and Variant Library Synthesis for ADAT1

    (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

    ADAT1 for disorders           About GeneDecksing

    OMIM gene information: 604230    OMIM disorders: --

    1 disease for ADAT1:    About MalaCards
    cholesterol

    Human Genome Epidemiology (HuGE) Navigator: ADAT1 (1 document)

    Export disorders for ADAT1 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 ADAT1 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with ADAT1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification and characterization of a human tRNA-specific adenosine deaminase related to the ADAR family of pre-mRNA editing enzymes. (PubMed id 10430867)1, 2, 3, 9 Maas S.... Rich A. (1999)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    3. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    4. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
    5. Global identification of modular cullin-RING ligase su bstrates. (PubMed id 21963094)1 Emanuele M.J....Elledge S.J. (2011)
    6. Fine mapping and association studies of a high-densit y lipoprotein cholesterol linkage region on chromosome 16 in French-Canadian su bjects. (PubMed id 19844255)1 Dastani Z....Genest J. (2010)
    7. Ubiquitin-mediated proteolysis of HuR by heat shock. (PubMed id 19322201)1 Abdelmohsen K....Gorospe M. (2009)
    8. 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)
    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. (2002)
    10. Genomic clustering of tRNA-specific adenosine deaminase ADAT1 and two tRNA synthetases. (PubMed id 11331948)9 Maas S....Rich A. (2001)

    (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)
    About This Section
    Entrez Gene: 23536 HGNC: 228 AceView: ADAT1andCHST5 Ensembl:ENSG00000065457 euGenes: HUgn23536
    ECgene: ADAT1 H-InvDB: ADAT1

    (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 ADAT1 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 ADAT1 gene:
    Search GeneIP for patents involving ADAT1

    GeneCards and IP:
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