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GDA guanine deaminase [ Homo sapiens (human) ]

Gene ID: 9615, updated on 1-Jun-2020

Summary

Official Symbol
GDAprovided by HGNC
Official Full Name
guanine deaminaseprovided by HGNC
Primary source
HGNC:HGNC:4212
See related
Ensembl:ENSG00000119125 MIM:139260
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
GAH; CYPIN; GUANASE; NEDASIN
Summary
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]
Expression
Biased expression in small intestine (RPKM 33.5), duodenum (RPKM 32.2) and 6 other tissues See more
Orthologs

Genomic context

See GDA in Genome Data Viewer
Location:
9q21.13
Exon count:
22
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (72114595..72256045)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (74729511..74867140)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101927108 Neighboring gene chromosome 9 open reading frame 57 Neighboring gene basic transcription factor 3 pseudogene 4 Neighboring gene NME/NM23 nucleoside diphosphate kinase 2 pseudogene Neighboring gene RNA, 5S ribosomal pseudogene 285

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association study of increasing suicidal ideation during antidepressant treatment in the GENDEP project.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC9982, KIAA1258

Gene Ontology Provided by GOA

Function Evidence Code Pubs
deaminase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
guanine deaminase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
zinc ion binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
guanine catabolic process IEA
Inferred from Electronic Annotation
more info
 
guanine metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nervous system development TAS
Traceable Author Statement
more info
PubMed 
nucleobase-containing compound metabolic process TAS
Traceable Author Statement
more info
PubMed 
purine nucleotide catabolic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 
intracellular TAS
Traceable Author Statement
more info
PubMed 

General protein information

Preferred Names
guanine deaminase
Names
cytoplasmic PSD95 interactor
guanine aminase
guanine aminohydrolase
p51-nedasin
NP_001229434.1
NP_001229435.1
NP_001229436.1
NP_001338500.1
NP_001338501.1
NP_001338502.1
NP_004284.1
XP_005252374.1
XP_011517515.1
XP_011517516.1
XP_011517517.1
XP_011517518.1
XP_011517519.1
XP_011517520.1
XP_011517521.1
XP_011517522.1
XP_011517523.1
XP_011517524.1
XP_011517525.1
XP_016870822.1
XP_016870824.1
XP_016870827.1
XP_016870829.1
XP_024303488.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_030562.1 RefSeqGene

    Range
    5001..142630
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001242505.2NP_001229434.1  guanine deaminase isoform a

    See identical proteins and their annotated locations for NP_001229434.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (a).Variants 1 and 6 encode the same isoform (a).
    Source sequence(s)
    AF144745, BC012859, DA212666
    Consensus CDS
    CCDS56576.1
    UniProtKB/Swiss-Prot
    Q9Y2T3
    Related
    ENSP00000238018.4, ENST00000238018.8
    Conserved Domains (1) summary
    cd01303
    Location:13444
    GDEase; Guanine deaminase (GDEase). Guanine deaminase is an aminohydrolase responsible for the conversion of guanine to xanthine and ammonia, the first step to utilize guanine as a nitrogen source. This reaction also removes the guanine base from the pool and ...
  2. NM_001242506.3NP_001229435.1  guanine deaminase isoform c

    See identical proteins and their annotated locations for NP_001229435.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and coding sequence and in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (c) is shorter at both the N- and C-termini compared to isoform a. Variants 3 and 4 both encode the same isoform (c).
    Source sequence(s)
    AB033084, AF019638, AK023729, AK315988, AL135924, DA212666
    Consensus CDS
    CCDS56577.1
    UniProtKB/Swiss-Prot
    Q9Y2T3
    Conserved Domains (1) summary
    cd01303
    Location:1370
    GDEase; Guanine deaminase (GDEase). Guanine deaminase is an aminohydrolase responsible for the conversion of guanine to xanthine and ammonia, the first step to utilize guanine as a nitrogen source. This reaction also removes the guanine base from the pool and ...
  3. NM_001242507.2NP_001229436.1  guanine deaminase isoform c

    See identical proteins and their annotated locations for NP_001229436.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR and coding sequence and in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (c) is shorter at both the N- and C-termini compared to isoform a. Variants 3 and 4 both encode the same isoform (c).
    Source sequence(s)
    AB033084, AF019638, AK023729, AK300418, AL135924
    Consensus CDS
    CCDS56577.1
    UniProtKB/Swiss-Prot
    Q9Y2T3
    Related
    ENSP00000437972.1, ENST00000545168.5
    Conserved Domains (1) summary
    cd01303
    Location:1370
    GDEase; Guanine deaminase (GDEase). Guanine deaminase is an aminohydrolase responsible for the conversion of guanine to xanthine and ammonia, the first step to utilize guanine as a nitrogen source. This reaction also removes the guanine base from the pool and ...
  4. NM_001351571.2NP_001338500.1  guanine deaminase isoform d

    Status: REVIEWED

    Source sequence(s)
    AB033084, AF019638, AK023729, AL135924, BC053584, DA249599
    Conserved Domains (1) summary
    cd01303
    Location:2402
    GDEase; Guanine deaminase (GDEase). Guanine deaminase is an aminohydrolase responsible for the conversion of guanine to xanthine and ammonia, the first step to utilize guanine as a nitrogen source. This reaction also removes the guanine base from the pool and ...
  5. NM_001351572.2NP_001338501.1  guanine deaminase isoform a

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) contains an alternate 3' terminal exon, resulting in a distinct 3' UTR, compared to variant 1. Variants 1 and 6 encode the same isoform (a).
    Source sequence(s)
    BC012859, BC053584
    Consensus CDS
    CCDS56576.1
    Related
    ENSP00000366185.1, ENST00000376986.5
    Conserved Domains (1) summary
    cd01303
    Location:13444
    GDEase; Guanine deaminase (GDEase). Guanine deaminase is an aminohydrolase responsible for the conversion of guanine to xanthine and ammonia, the first step to utilize guanine as a nitrogen source. This reaction also removes the guanine base from the pool and ...
  6. NM_001351573.2NP_001338502.1  guanine deaminase isoform e

    Status: REVIEWED

    Source sequence(s)
    BC012859, BC053584, BU164295
    Conserved Domains (1) summary
    cd01303
    Location:13432
    GDEase; Guanine deaminase (GDEase). Guanine deaminase is an aminohydrolase responsible for the conversion of guanine to xanthine and ammonia, the first step to utilize guanine as a nitrogen source. This reaction also removes the guanine base from the pool and ...
  7. NM_004293.5NP_004284.1  guanine deaminase isoform b

    See identical proteins and their annotated locations for NP_004284.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (b) is shorter at the C-terminus compared to isoform a.
    Source sequence(s)
    AB033084, AF019638, AK023729, AL135924, BC053584
    Consensus CDS
    CCDS6641.1
    UniProtKB/Swiss-Prot
    Q9Y2T3
    UniProtKB/TrEMBL
    A0A024R231
    Related
    ENSP00000351170.3, ENST00000358399.7
    Conserved Domains (1) summary
    cd01303
    Location:13444
    GDEase; Guanine deaminase (GDEase). Guanine deaminase is an aminohydrolase responsible for the conversion of guanine to xanthine and ammonia, the first step to utilize guanine as a nitrogen source. This reaction also removes the guanine base from the pool and ...

RNA

  1. NR_147240.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    BC012859, BC053584, BU164295

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p13 Primary Assembly

    Range
    72114595..72256045
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011519221.1XP_011517523.1  guanine deaminase isoform X10

    Conserved Domains (1) summary
    cd01303
    Location:1370
    GDEase; Guanine deaminase (GDEase). Guanine deaminase is an aminohydrolase responsible for the conversion of guanine to xanthine and ammonia, the first step to utilize guanine as a nitrogen source. This reaction also removes the guanine base from the pool and ...
  2. XM_017015338.1XP_016870827.1  guanine deaminase isoform X8

  3. XM_011519219.1XP_011517521.1  guanine deaminase isoform X6

    Conserved Domains (1) summary
    cd01303
    Location:2440
    GDEase; Guanine deaminase (GDEase). Guanine deaminase is an aminohydrolase responsible for the conversion of guanine to xanthine and ammonia, the first step to utilize guanine as a nitrogen source. This reaction also removes the guanine base from the pool and ...
  4. XM_011519220.1XP_011517522.1  guanine deaminase isoform X9

    Conserved Domains (1) summary
    cd01303
    Location:2402
    GDEase; Guanine deaminase (GDEase). Guanine deaminase is an aminohydrolase responsible for the conversion of guanine to xanthine and ammonia, the first step to utilize guanine as a nitrogen source. This reaction also removes the guanine base from the pool and ...
  5. XM_017015333.2XP_016870822.1  guanine deaminase isoform X1

    Conserved Domains (2) summary
    PRK09228
    Location:11485
    PRK09228; guanine deaminase; Provisional
    cd01303
    Location:13482
    GDEase; Guanine deaminase (GDEase). Guanine deaminase is an aminohydrolase responsible for the conversion of guanine to xanthine and ammonia, the first step to utilize guanine as a nitrogen source. This reaction also removes the guanine base from the pool and ...
  6. XM_017015335.2XP_016870824.1  guanine deaminase isoform X2

    Conserved Domains (1) summary
    cd01303
    Location:13470
    GDEase; Guanine deaminase (GDEase). Guanine deaminase is an aminohydrolase responsible for the conversion of guanine to xanthine and ammonia, the first step to utilize guanine as a nitrogen source. This reaction also removes the guanine base from the pool and ...
  7. XM_011519214.2XP_011517516.1  guanine deaminase isoform X1

    See identical proteins and their annotated locations for XP_011517516.1

    Conserved Domains (2) summary
    PRK09228
    Location:11485
    PRK09228; guanine deaminase; Provisional
    cd01303
    Location:13482
    GDEase; Guanine deaminase (GDEase). Guanine deaminase is an aminohydrolase responsible for the conversion of guanine to xanthine and ammonia, the first step to utilize guanine as a nitrogen source. This reaction also removes the guanine base from the pool and ...
  8. XM_011519217.2XP_011517519.1  guanine deaminase isoform X3

    Conserved Domains (2) summary
    PRK09228
    Location:11485
    PRK09228; guanine deaminase; Provisional
    cd01303
    Location:13482
    GDEase; Guanine deaminase (GDEase). Guanine deaminase is an aminohydrolase responsible for the conversion of guanine to xanthine and ammonia, the first step to utilize guanine as a nitrogen source. This reaction also removes the guanine base from the pool and ...
  9. XM_011519222.2XP_011517524.1  guanine deaminase isoform X1

    See identical proteins and their annotated locations for XP_011517524.1

    Conserved Domains (2) summary
    PRK09228
    Location:11485
    PRK09228; guanine deaminase; Provisional
    cd01303
    Location:13482
    GDEase; Guanine deaminase (GDEase). Guanine deaminase is an aminohydrolase responsible for the conversion of guanine to xanthine and ammonia, the first step to utilize guanine as a nitrogen source. This reaction also removes the guanine base from the pool and ...
  10. XM_011519213.2XP_011517515.1  guanine deaminase isoform X1

    See identical proteins and their annotated locations for XP_011517515.1

    Conserved Domains (2) summary
    PRK09228
    Location:11485
    PRK09228; guanine deaminase; Provisional
    cd01303
    Location:13482
    GDEase; Guanine deaminase (GDEase). Guanine deaminase is an aminohydrolase responsible for the conversion of guanine to xanthine and ammonia, the first step to utilize guanine as a nitrogen source. This reaction also removes the guanine base from the pool and ...
  11. XM_011519215.2XP_011517517.1  guanine deaminase isoform X2

    See identical proteins and their annotated locations for XP_011517517.1

    Conserved Domains (1) summary
    cd01303
    Location:13470
    GDEase; Guanine deaminase (GDEase). Guanine deaminase is an aminohydrolase responsible for the conversion of guanine to xanthine and ammonia, the first step to utilize guanine as a nitrogen source. This reaction also removes the guanine base from the pool and ...
  12. XM_011519216.2XP_011517518.1  guanine deaminase isoform X2

    See identical proteins and their annotated locations for XP_011517518.1

    Conserved Domains (1) summary
    cd01303
    Location:13470
    GDEase; Guanine deaminase (GDEase). Guanine deaminase is an aminohydrolase responsible for the conversion of guanine to xanthine and ammonia, the first step to utilize guanine as a nitrogen source. This reaction also removes the guanine base from the pool and ...
  13. XM_005252317.2XP_005252374.1  guanine deaminase isoform X4

    See identical proteins and their annotated locations for XP_005252374.1

    UniProtKB/Swiss-Prot
    Q9Y2T3
    Conserved Domains (1) summary
    cd01303
    Location:13444
    GDEase; Guanine deaminase (GDEase). Guanine deaminase is an aminohydrolase responsible for the conversion of guanine to xanthine and ammonia, the first step to utilize guanine as a nitrogen source. This reaction also removes the guanine base from the pool and ...
  14. XM_024447720.1XP_024303488.1  guanine deaminase isoform X7

    Conserved Domains (1) summary
    cd01303
    Location:13432
    GDEase; Guanine deaminase (GDEase). Guanine deaminase is an aminohydrolase responsible for the conversion of guanine to xanthine and ammonia, the first step to utilize guanine as a nitrogen source. This reaction also removes the guanine base from the pool and ...
  15. XM_011519218.2XP_011517520.1  guanine deaminase isoform X5

    Conserved Domains (1) summary
    cd01303
    Location:2442
    GDEase; Guanine deaminase (GDEase). Guanine deaminase is an aminohydrolase responsible for the conversion of guanine to xanthine and ammonia, the first step to utilize guanine as a nitrogen source. This reaction also removes the guanine base from the pool and ...
  16. XM_017015340.2XP_016870829.1  guanine deaminase isoform X11

    Conserved Domains (1) summary
    cl00281
    Location:1274
    metallo-dependent_hydrolases; Superfamily of metallo-dependent hydrolases (also called amidohydrolase superfamily) is a large group of proteins that show conservation in their 3-dimensional fold (TIM barrel) and in details of their active site. The vast majority of the members have a ...
  17. XM_011519223.2XP_011517525.1  guanine deaminase isoform X11

    Conserved Domains (1) summary
    cl00281
    Location:1274
    metallo-dependent_hydrolases; Superfamily of metallo-dependent hydrolases (also called amidohydrolase superfamily) is a large group of proteins that show conservation in their 3-dimensional fold (TIM barrel) and in details of their active site. The vast majority of the members have a ...

RNA

  1. XR_002956834.1 RNA Sequence

  2. XR_001746423.2 RNA Sequence

  3. XR_002956833.1 RNA Sequence

  4. XR_001746424.2 RNA Sequence

  5. XR_929878.2 RNA Sequence

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