Human Gene GDA (uc004air.3)
  Description: Homo sapiens guanine deaminase (GDA), transcript variant 1, mRNA.
RefSeq Summary (NM_001242505): This gene encodes an enzyme responsible for the hydrolytic deamination of guanine. Studies in rat ortholog suggest this gene plays a role in microtubule assembly. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011].
Transcript (Including UTRs)
   Position: hg19 chr9:74,764,267-74,867,140 Size: 102,874 Total Exon Count: 16 Strand: +
Coding Region
   Position: hg19 chr9:74,764,476-74,865,720 Size: 101,245 Coding Exon Count: 15 

Page IndexSequence and LinksPrimersGenetic AssociationsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesmRNA Descriptions
PathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr9:74,764,267-74,867,140)mRNA (may differ from genome)Protein (471 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsH-INV
HGNCLynxMGIOMIMPubMedReactome
TreefamUniProtKBWikipediaBioGrid CRISPR DB

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): GDA
CDC HuGE Published Literature: GDA
Positive Disease Associations: Alcohol Drinking , Suicidal Ideation
Related Studies:
  1. Alcohol Drinking
    , , . [PubMed 0]
  2. Suicidal Ideation
    N Perroud et al. The pharmacogenomics journal 2012, Genome-wide association study of increasing suicidal ideation during antidepressant treatment in the GENDEP project., The pharmacogenomics journal. [PubMed 20877300]
    and replication in larger sample is warranted.

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

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 19.76 RPKM in Small Intestine - Terminal Ileum
Total median expression: 119.36 RPKM



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

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -93.90209-0.449 Picture PostScript Text
3' UTR -108.35450-0.241 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
  Pfam Domains:
PF01979 - Amidohydrolase family
PF07969 - Amidohydrolase family

SCOP Domains:
51556 - Metallo-dependent hydrolases

ModBase Predicted Comparative 3D Structure on Q9Y2T3-3
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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 orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  Descriptions from all associated GenBank mRNAs
  AK300418 - Homo sapiens cDNA FLJ57145 complete cds, highly similar to Guanine deaminase (EC 3.5.4.3).
BC053584 - Homo sapiens guanine deaminase, mRNA (cDNA clone MGC:61486 IMAGE:5186337), complete cds.
AF144745 - Homo sapiens guanine aminohydrolase (GAH) mRNA, complete cds.
BC012859 - Homo sapiens guanine deaminase, mRNA (cDNA clone IMAGE:3859404), with apparent retained intron.
AF095286 - Homo sapiens guanine deaminase GDA mRNA, complete cds.
AF019638 - Homo sapiens nedasin s-form mRNA, complete cds.
AB033084 - Homo sapiens KIAA1258 mRNA for KIAA1258 protein.
CU690994 - Synthetic construct Homo sapiens gateway clone IMAGE:100021740 5' read GDA mRNA.
AB384158 - Synthetic construct DNA, clone: pF1KSDA1258, Homo sapiens GDA gene for guanine deaminase, complete cds, without stop codon, in Flexi system.
HQ448102 - Synthetic construct Homo sapiens clone IMAGE:100071482; CCSB011894_01 guanine deaminase (GDA) gene, encodes complete protein.
KJ892817 - Synthetic construct Homo sapiens clone ccsbBroadEn_02211 GDA gene, encodes complete protein.
AK315988 - Homo sapiens cDNA, FLJ78887 complete cds, highly similar to Guanine deaminase (EC 3.5.4.3).
AK097540 - Homo sapiens cDNA FLJ40221 fis, clone TESTI2021736, highly similar to Guanine deaminase (EC 3.5.4.3).
AK295716 - Homo sapiens cDNA FLJ60569 complete cds, highly similar to Guanine deaminase (EC 3.5.4.3).
JD142050 - Sequence 123074 from Patent EP1572962.
JD191859 - Sequence 172883 from Patent EP1572962.
JD520878 - Sequence 501902 from Patent EP1572962.
AJ420441 - Homo sapiens mRNA full length insert cDNA clone EUROIMAGE 1590143.
AK023729 - Homo sapiens cDNA FLJ13667 fis, clone PLACE1011675.
BC033310 - Homo sapiens guanine deaminase, mRNA (cDNA clone IMAGE:3880610).

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00230 - Purine metabolism
hsa01100 - Metabolic pathways

BioCyc Knowledge Library
PWY-6353 - purine nucleotides degradation II (aerobic)
PWY-6608 - guanosine nucleotides degradation III

Reactome (by CSHL, EBI, and GO)

Protein Q9Y2T3 (Reactome details) participates in the following event(s):

R-HSA-74255 Guanine + H2O => Xanthine + NH4+
R-HSA-74259 Purine catabolism
R-HSA-8956319 Nucleobase catabolism
R-HSA-15869 Metabolism of nucleotides
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: KIAA1258, NM_001242505, NP_001229434, Q9Y2T3-3
UCSC ID: uc004air.3
RefSeq Accession: NM_001242505
Protein: Q9Y2T3-3, splice isoform of Q9Y2T3 CCDS: CCDS6641.1, CCDS56576.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001242505.2
exon count: 16CDS single in 3' UTR: no RNA size: 2096
ORF size: 1416CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 3032.00frame shift in genome: no % Coverage: 99.00
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.