GDA guanine deaminase [Homo sapiens (human)] - Gene

Summary

Official Symbol: GDAprovided by HGNC
Official Full Name: guanine deaminaseprovided by HGNC
Primary source: HGNC:HGNC:4212
See related: Ensembl:ENSG00000119125 MIM:139260; AllianceGenome:HGNC:4212
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: mouse all
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Genomic context

Location:: 9q21.13

Exon count:: 27

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (72114608..72259869)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (84265431..84411245)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (74729524..74868476)

Chromosome 9 - NC_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Long Non-Coding RNA-GDA-1 Promotes Keratinocyte Proliferation and Psoriasis Inflammation by Regulating the STAT3/NF-kappaB Signaling Pathway via Forkhead Box M1.
Title: Long Non-Coding RNA-GDA-1 Promotes Keratinocyte Proliferation and Psoriasis Inflammation by Regulating the STAT3/NF-κB Signaling Pathway via Forkhead Box M1.
Guanine Deaminase in Human Epidermal Keratinocytes Contributes to Skin Pigmentation.
Title: Guanine Deaminase in Human Epidermal Keratinocytes Contributes to Skin Pigmentation.
Guanine Deaminase Stimulates Ultraviolet-induced Keratinocyte Senescence in Seborrhoeic Keratosis via Guanine Metabolites.
Title: Guanine Deaminase Stimulates Ultraviolet-induced Keratinocyte Senescence in Seborrhoeic Keratosis via Guanine Metabolites.
This protein has been found differentially expressed in thalami from patients with schizophrenia.
Title: Proteome analysis of the thalamus and cerebrospinal fluid reveals glycolysis dysfunction and potential biomarkers candidates for schizophrenia.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
since the histochemical staining of guanase and immunohistochemical staining of nedasin overlapped in many regions, guanase is presumed to be involved in signal transduction in organs similar to nedasin
Title: Histochemical and immunohistochemical investigation of guanase and nedasin in human tissues.
the experiments on guanase and nedasin in rat organs performed in this study are considered to have important implications in the investigation of their physiological significance
Title: A histochemical and immunohistochemical investigation of guanase and nedasin in rat and human tissues.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association study of increasing suicidal ideation during antidepressant treatment in the GENDEP project. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

A002U11 (e-PCR)
- UniSTS:62990

RH18389 (e-PCR)
- UniSTS:35611

L17705 (e-PCR)
- UniSTS:66091

RH12787 (e-PCR)
- UniSTS:75061

D9S1761 (e-PCR)
- UniSTS:154184

G35510 (e-PCR)
- UniSTS:44150

WIAF-1619 (e-PCR)
- UniSTS:19066

GDB:451815 (e-PCR)
- UniSTS:157375

D9S1069E (e-PCR)
- UniSTS:151286

1668 (e-PCR)
- UniSTS:47096

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables guanine deaminase activity	IBA Inferred from Biological aspect of Ancestor more info
enables zinc ion binding	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in GMP catabolic process	IEA Inferred from Electronic Annotation more info
involved_in allantoin metabolic process	IEA Inferred from Electronic Annotation more info
involved_in amide catabolic process	IEA Inferred from Electronic Annotation more info
involved_in dGMP catabolic process	IEA Inferred from Electronic Annotation more info
involved_in deoxyguanosine catabolic process	IEA Inferred from Electronic Annotation more info
involved_in guanine catabolic process	IEA Inferred from Electronic Annotation more info
involved_in guanine metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in nervous system development	TAS Traceable Author Statement more info	PubMed
involved_in nucleobase-containing compound metabolic process	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	TAS Traceable Author Statement more info

General protein information

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Preferred Names: guanine deaminase

Names: cytoplasmic PSD-95 interactor; cytoplasmic PSD95 interactor; guanine aminase; guanine aminohydrolase; p51-nedasin

NP_001229434.1

EC 3.5.4.3

NP_001229435.1

EC 3.5.4.3

NP_001229436.1

EC 3.5.4.3

NP_001338500.1

EC 3.5.4.3

NP_001338501.1

EC 3.5.4.3

NP_001338502.1

EC 3.5.4.3

NP_004284.1

EC 3.5.4.3

XP_005252374.1

EC 3.5.4.3

XP_011517515.1

EC 3.5.4.3

XP_011517517.1

EC 3.5.4.3

XP_011517518.1

EC 3.5.4.3

XP_011517519.1

EC 3.5.4.3

XP_011517520.1

EC 3.5.4.3

XP_011517521.1

EC 3.5.4.3

XP_011517522.1

EC 3.5.4.3

XP_011517524.1

EC 3.5.4.3

XP_011517525.1

EC 3.5.4.3

XP_016870827.1

EC 3.5.4.3

XP_016870829.1

EC 3.5.4.3

XP_024303488.1

EC 3.5.4.3

XP_047280055.1

EC 3.5.4.3

XP_047280057.1

EC 3.5.4.3

XP_047280058.1

EC 3.5.4.3

XP_047280059.1

EC 3.5.4.3

XP_047280060.1

EC 3.5.4.3

XP_047280062.1

EC 3.5.4.3

XP_047280063.1

EC 3.5.4.3

XP_047280064.1

EC 3.5.4.3

XP_047280065.1

EC 3.5.4.3

XP_054220188.1

EC 3.5.4.3

XP_054220189.1

EC 3.5.4.3

XP_054220190.1

EC 3.5.4.3

XP_054220191.1

EC 3.5.4.3

XP_054220192.1

EC 3.5.4.3

XP_054220193.1

EC 3.5.4.3

XP_054220194.1

EC 3.5.4.3

XP_054220195.1

EC 3.5.4.3

XP_054220196.1

EC 3.5.4.3

XP_054220197.1

EC 3.5.4.3

XP_054220198.1

EC 3.5.4.3

XP_054220199.1

EC 3.5.4.3

XP_054220200.1

EC 3.5.4.3

XP_054220201.1

EC 3.5.4.3

XP_054220202.1

EC 3.5.4.3

XP_054220203.1

EC 3.5.4.3

XP_054220204.1

EC 3.5.4.3

XP_054220205.1

EC 3.5.4.3

XP_054220206.1

EC 3.5.4.3

XP_054220207.1

EC 3.5.4.3

XP_054220208.1

EC 3.5.4.3

XP_054220209.1

EC 3.5.4.3

XP_054220210.1

EC 3.5.4.3

XP_054220211.1

EC 3.5.4.3

NCBI Reference Sequences (RefSeq)

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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

NG_030562.2 RefSeqGene

Range

39834..142618

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001242505.3 → NP_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/TrEMBL

Q5SZC6

Related

ENSP00000238018.4, ENST00000238018.8

Conserved Domains (1) summary

cd01303
Location:13 → 444

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 ...
NM_001242506.3 → NP_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/TrEMBL

Q5SZC6

Conserved Domains (1) summary

cd01303
Location:1 → 370

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 ...
NM_001242507.3 → NP_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/TrEMBL

Q5SZC6

Related

ENSP00000437972.1, ENST00000545168.5

Conserved Domains (1) summary

cd01303
Location:1 → 370

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 ...
NM_001351571.2 → NP_001338500.1 guanine deaminase isoform d

Status: REVIEWED

Source sequence(s)

AB033084, AF019638, AK023729, AL135924, BC053584, DA249599

UniProtKB/TrEMBL

Q5SZC6

Conserved Domains (1) summary

cd01303
Location:2 → 402

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 ...
NM_001351572.2 → NP_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

UniProtKB/TrEMBL

Q5SZC6

Conserved Domains (1) summary

cd01303
Location:13 → 444

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 ...
NM_001351573.2 → NP_001338502.1 guanine deaminase isoform e

Status: REVIEWED

Source sequence(s)

BC012859, BC053584, BU164295

Conserved Domains (1) summary

cd01303
Location:13 → 432

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 ...
NM_004293.5 → NP_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

B4DTY5, Q5SZC7, Q9H335, Q9ULG2, Q9Y2T3

UniProtKB/TrEMBL

Q5SZC6

Related

ENSP00000351170.4, ENST00000358399.8

Conserved Domains (1) summary

cd01303
Location:13 → 444

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

NR_147240.2 RNA Sequence

Status: REVIEWED

Source sequence(s)

BC012859, BC053584, BU164295

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000009.12 Reference GRCh38.p14 Primary Assembly

Range

72114608..72259869

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017015338.2 → XP_016870827.1 guanine deaminase isoform X9

UniProtKB/TrEMBL

Q5SZC6
XM_047424104.1 → XP_047280060.1 guanine deaminase isoform X9
XM_047424109.1 → XP_047280065.1 guanine deaminase isoform X12
XM_047424099.1 → XP_047280055.1 guanine deaminase isoform X2
XM_047424107.1 → XP_047280063.1 guanine deaminase isoform X10

Related

ENSP00000366185.1, ENST00000376986.5
XM_047424102.1 → XP_047280058.1 guanine deaminase isoform X6
XM_011519218.3 → XP_011517520.1 guanine deaminase isoform X6

UniProtKB/TrEMBL

Q5SZC6

Conserved Domains (1) summary

cd01303
Location:2 → 442

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 ...
XM_011519217.3 → XP_011517519.1 guanine deaminase isoform X3

Conserved Domains (2) summary

PRK09228
Location:11 → 485

PRK09228; guanine deaminase; Provisional

cd01303
Location:13 → 482

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 ...
XM_011519222.3 → XP_011517524.1 guanine deaminase isoform X1

See identical proteins and their annotated locations for XP_011517524.1

Conserved Domains (2) summary

PRK09228
Location:11 → 485

PRK09228; guanine deaminase; Provisional

cd01303
Location:13 → 482

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 ...
XM_011519213.3 → XP_011517515.1 guanine deaminase isoform X1

See identical proteins and their annotated locations for XP_011517515.1

Conserved Domains (2) summary

PRK09228
Location:11 → 485

PRK09228; guanine deaminase; Provisional

cd01303
Location:13 → 482

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 ...
XM_011519215.3 → XP_011517517.1 guanine deaminase isoform X2

See identical proteins and their annotated locations for XP_011517517.1

Conserved Domains (1) summary

cd01303
Location:13 → 470

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 ...
XM_011519216.3 → XP_011517518.1 guanine deaminase isoform X2

See identical proteins and their annotated locations for XP_011517518.1

Conserved Domains (1) summary

cd01303
Location:13 → 470

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 ...
XM_005252317.3 → XP_005252374.1 guanine deaminase isoform X5

See identical proteins and their annotated locations for XP_005252374.1

UniProtKB/TrEMBL

Q5SZC6

Conserved Domains (1) summary

cd01303
Location:13 → 444

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 ...
XM_024447720.2 → XP_024303488.1 guanine deaminase isoform X8

Conserved Domains (1) summary

cd01303
Location:13 → 432

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 ...
XM_047424103.1 → XP_047280059.1 guanine deaminase isoform X8
XM_011519219.2 → XP_011517521.1 guanine deaminase isoform X7

UniProtKB/TrEMBL

Q5SZC6

Conserved Domains (1) summary

cd01303
Location:2 → 440

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 ...
XM_011519220.2 → XP_011517522.1 guanine deaminase isoform X10

UniProtKB/TrEMBL

Q5SZC6

Conserved Domains (1) summary

cd01303
Location:2 → 402

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 ...
XM_047424106.1 → XP_047280062.1 guanine deaminase isoform X10
XM_047424108.1 → XP_047280064.1 guanine deaminase isoform X11
XM_047424101.1 → XP_047280057.1 guanine deaminase isoform X4
XM_017015340.2 → XP_016870829.1 guanine deaminase isoform X13

Conserved Domains (1) summary

cl00281
Location:1 → 274

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 ...
XM_011519223.2 → XP_011517525.1 guanine deaminase isoform X13

Conserved Domains (1) summary

cl00281
Location:1 → 274

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 ...