Human Gene ADAT1 (uc002feo.2) Description and Page Index
  Description: Homo sapiens adenosine deaminase, tRNA-specific 1 (ADAT1), transcript variant 1, mRNA.
RefSeq Summary (NM_012091): 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].
Transcript (Including UTRs)
   Position: hg19 chr16:75,632,247-75,657,221 Size: 24,975 Total Exon Count: 11 Strand: -
Coding Region
   Position: hg19 chr16:75,634,114-75,654,697 Size: 20,584 Coding Exon Count: 9 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr16:75,632,247-75,657,221)mRNA (may differ from genome)Protein (502 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
neXtProtOMIMPubMedReactomeStanford SOURCETreefam

-  Comments and Description Text from UniProtKB
DESCRIPTION: RecName: Full=tRNA-specific adenosine deaminase 1; Short=hADAT1; EC=3.5.4.-; AltName: Full=tRNA-specific adenosine-37 deaminase;
FUNCTION: Specifically deaminates adenosine-37 to inosine in tRNA- Ala.
COFACTOR: Binds 1 inositol hexakisphosphate (IP6) per subunit (By similarity).
TISSUE SPECIFICITY: Ubiquitously expressed.
SIMILARITY: Belongs to the ADAT1 family.
SIMILARITY: Contains 1 A to I editase domain.

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): ADAT1
CDC HuGE Published Literature: ADAT1

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
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-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 10.20 RPKM in Testis
Total median expression: 139.60 RPKM

View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -55.20169-0.327 Picture PostScript Text
3' UTR -604.481867-0.324 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR002466 - A_deamin

Pfam Domains:
PF02137 - Adenosine-deaminase (editase) domain

ModBase Predicted Comparative 3D Structure on Q9BUB4
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
  Protein Sequence   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003723 RNA binding
GO:0004000 adenosine deaminase activity
GO:0008251 tRNA-specific adenosine deaminase activity
GO:0016787 hydrolase activity
GO:0046872 metal ion binding

Biological Process:
GO:0006396 RNA processing
GO:0008033 tRNA processing

-  Descriptions from all associated GenBank mRNAs
  JD220035 - Sequence 201059 from Patent EP1572962.
JD517986 - Sequence 499010 from Patent EP1572962.
AK001687 - Homo sapiens cDNA FLJ10825 fis, clone NT2RP4001095, weakly similar to DOUBLE-STRANDED RNA-SPECIFIC EDITASE 1 (EC 3.5.-.-).
JD220142 - Sequence 201166 from Patent EP1572962.
JD518066 - Sequence 499090 from Patent EP1572962.
JD366745 - Sequence 347769 from Patent EP1572962.
JD366744 - Sequence 347768 from Patent EP1572962.
JD366746 - Sequence 347770 from Patent EP1572962.
JD106071 - Sequence 87095 from Patent EP1572962.
JD518064 - Sequence 499088 from Patent EP1572962.
JD224491 - Sequence 205515 from Patent EP1572962.
JD142832 - Sequence 123856 from Patent EP1572962.
JD332399 - Sequence 313423 from Patent EP1572962.
JD308928 - Sequence 289952 from Patent EP1572962.
JD038206 - Sequence 19230 from Patent EP1572962.
JD446268 - Sequence 427292 from Patent EP1572962.
JD472099 - Sequence 453123 from Patent EP1572962.
JD388248 - Sequence 369272 from Patent EP1572962.
JD041329 - Sequence 22353 from Patent EP1572962.
JD169315 - Sequence 150339 from Patent EP1572962.
JD529198 - Sequence 510222 from Patent EP1572962.
JD430185 - Sequence 411209 from Patent EP1572962.
JD118375 - Sequence 99399 from Patent EP1572962.
JD201284 - Sequence 182308 from Patent EP1572962.
JD388247 - Sequence 369271 from Patent EP1572962.
JD041328 - Sequence 22352 from Patent EP1572962.
JD208846 - Sequence 189870 from Patent EP1572962.
JD159040 - Sequence 140064 from Patent EP1572962.
JD511527 - Sequence 492551 from Patent EP1572962.
JD286689 - Sequence 267713 from Patent EP1572962.
JD561173 - Sequence 542197 from Patent EP1572962.
JD167568 - Sequence 148592 from Patent EP1572962.
JD384002 - Sequence 365026 from Patent EP1572962.
JD275974 - Sequence 256998 from Patent EP1572962.
JD036590 - Sequence 17614 from Patent EP1572962.
JD300701 - Sequence 281725 from Patent EP1572962.
JD038767 - Sequence 19791 from Patent EP1572962.
JD306247 - Sequence 287271 from Patent EP1572962.
JD130566 - Sequence 111590 from Patent EP1572962.
DQ599542 - Homo sapiens piRNA piR-37608, complete sequence.
JD528676 - Sequence 509700 from Patent EP1572962.
JD252394 - Sequence 233418 from Patent EP1572962.
DQ592453 - Homo sapiens piRNA piR-59565, complete sequence.
JD258982 - Sequence 240006 from Patent EP1572962.
JD101328 - Sequence 82352 from Patent EP1572962.
BC002758 - Homo sapiens adenosine deaminase, tRNA-specific 1, mRNA (cDNA clone MGC:3393 IMAGE:3632079), complete cds.
JD084069 - Sequence 65093 from Patent EP1572962.
AK296834 - Homo sapiens cDNA FLJ55921 complete cds, highly similar to Homo sapiens adenosine deaminase, tRNA-specific 1 (ADAT1), mRNA.
AF125188 - Homo sapiens adenosine deaminase acting on tRNA 1 (hADAT1) mRNA, complete cds.
AK314652 - Homo sapiens cDNA, FLJ95496, highly similar to Homo sapiens adenosine deaminase, tRNA-specific 1 (ADAT1), mRNA.
KJ893395 - Synthetic construct Homo sapiens clone ccsbBroadEn_02789 ADAT1 gene, encodes complete protein.
DQ893001 - Synthetic construct clone IMAGE:100005631; FLH191574.01X; RZPDo839E0977D adenosine deaminase, tRNA-specific 1 (ADAT1) gene, encodes complete protein.
DQ896247 - Synthetic construct Homo sapiens clone IMAGE:100010707; FLH191570.01L; RZPDo839E0967D adenosine deaminase, tRNA-specific 1 (ADAT1) gene, encodes complete protein.
CU678168 - Synthetic construct Homo sapiens gateway clone IMAGE:100020283 5' read ADAT1 mRNA.
JD025974 - Sequence 6998 from Patent EP1572962.
JD035022 - Sequence 16046 from Patent EP1572962.
JD512150 - Sequence 493174 from Patent EP1572962.
JD446576 - Sequence 427600 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9BUB4 (Reactome details) participates in the following event(s):

R-HSA-6782336 ADAT1 deaminates adenosine-37 in tRNA(Ala)
R-HSA-6782315 tRNA modification in the nucleus and cytosol
R-HSA-72306 tRNA processing
R-HSA-8953854 Metabolism of RNA

-  Other Names for This Gene
  Alternate Gene Symbols: ADAT1_HUMAN, NM_012091, NP_036223, Q9BUB4, Q9NVB7, Q9UNG3
UCSC ID: uc002feo.2
RefSeq Accession: NM_012091
Protein: Q9BUB4 (aka ADAT1_HUMAN)
CCDS: CCDS10922.1

-  Gene Model Information
category: coding nonsense-mediated-decay: no RNA accession: NM_012091.3
exon count: 11CDS single in 3' UTR: no RNA size: 3545
ORF size: 1509CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 3157.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.