Human Gene GDA (ENST00000358399.8_4) from GENCODE V47lift37
  Description: guanine deaminase, transcript variant 2 (from RefSeq NM_004293.5)
Gencode Transcript: ENST00000358399.8_4
Gencode Gene: ENSG00000119125.17_6
Transcript (Including UTRs)
   Position: hg19 chr9:74,764,356-74,867,140 Size: 102,785 Total Exon Count: 14 Strand: +
Coding Region
   Position: hg19 chr9:74,764,476-74,863,258 Size: 98,783 Coding Exon Count: 14 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr9:74,764,356-74,867,140)mRNA (may differ from genome)Protein (454 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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HGNCMGIOMIMPubMedReactomeUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: GUAD_HUMAN
DESCRIPTION: RecName: Full=Guanine deaminase; Short=Guanase; Short=Guanine aminase; EC=3.5.4.3; AltName: Full=Guanine aminohydrolase; Short=GAH; AltName: Full=p51-nedasin;
FUNCTION: Catalyzes the hydrolytic deamination of guanine, producing xanthine and ammonia (By similarity).
CATALYTIC ACTIVITY: Guanine + H(2)O = xanthine + NH(3).
COFACTOR: Binds 1 zinc ion per subunit.
PATHWAY: Purine metabolism; guanine degradation; xanthine from guanine: step 1/1.
SUBUNIT: Homodimer.
SIMILARITY: Belongs to the ATZ/TRZ family.
SEQUENCE CAUTION: Sequence=BAA86572.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;

-  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


-  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 -45.40120-0.378 Picture PostScript Text
3' UTR -935.703882-0.241 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
  InterPro Domains: Graphical view of domain structure
IPR006680 - Amidohydro_1
IPR014311 - Guanine_deaminase

Pfam Domains:
PF01979 - Amidohydrolase family
PF07969 - Amidohydrolase family

SCOP Domains:
51338 - Composite domain of metallo-dependent hydrolases
51556 - Metallo-dependent hydrolases

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2UZ9 - X-ray MuPIT 3E0L - X-ray MuPIT 4AQL - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q9Y2T3
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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 orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0008270 zinc ion binding
GO:0008892 guanine deaminase activity
GO:0016787 hydrolase activity
GO:0016810 hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds
GO:0046872 metal ion binding

Biological Process:
GO:0006139 nucleobase-containing compound metabolic process
GO:0006147 guanine catabolic process
GO:0006195 purine nucleotide catabolic process
GO:0007399 nervous system development
GO:0046098 guanine metabolic process

Cellular Component:
GO:0005622 intracellular
GO:0005829 cytosol


-  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.
JD144783 - Sequence 125807 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
  BioCyc Knowledge Library
PWY-6353 - purine nucleotides degradation
PWY-6608 - guanosine nucleotides degradation

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: B4DTY5, ENST00000358399.1, ENST00000358399.2, ENST00000358399.3, ENST00000358399.4, ENST00000358399.5, ENST00000358399.6, ENST00000358399.7, GDA , GUAD_HUMAN, KIAA1258 , NM_004293, Q5SZC7, Q9H335, Q9ULG2, Q9Y2T3, uc318anr.1, uc318anr.2
UCSC ID: ENST00000358399.8_4
RefSeq Accession: NM_004293.5
Protein: Q9Y2T3 (aka GUAD_HUMAN)

-  Gene Model Information
  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.