GMPS guanine monophosphate synthase [Homo sapiens (human)] - Gene

Summary

Official Symbol: GMPSprovided by HGNC
Official Full Name: guanine monophosphate synthaseprovided by HGNC
Primary source: HGNC:HGNC:4378
See related: Ensembl:ENSG00000163655 MIM:600358; AllianceGenome:HGNC:4378
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: GATD7
Summary: In the de novo synthesis of purine nucleotides, IMP is the branch point metabolite at which point the pathway diverges to the synthesis of either guanine or adenine nucleotides. In the guanine nucleotide pathway, there are 2 enzymes involved in converting IMP to GMP, namely IMP dehydrogenase (IMPD1), which catalyzes the oxidation of IMP to XMP, and GMP synthetase, which catalyzes the amination of XMP to GMP. [provided by RefSeq, Jul 2008]
Expression: Broad expression in testis (RPKM 20.3), thyroid (RPKM 6.3) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 3q25.31

Exon count:: 19

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (155869430..155944020)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (158644070..158718668)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (155588439..155661809)

Chromosome 3 - NC_000003.12 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 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?

The upregulated expression of RFC4 and GMPS mediated by DNA copy number alteration is associated with the early diagnosis and immune escape of ESCC based on a bioinformatic analysis.
Title: The upregulated expression of RFC4 and GMPS mediated by DNA copy number alteration is associated with the early diagnosis and immune escape of ESCC based on a bioinformatic analysis.
Guanosine monophosphate synthase upregulation mediates cervical cancer progression by inhibiting the apoptosis of cervical cancer cells via the Stat3/P53 pathway.
Title: Guanosine monophosphate synthase upregulation mediates cervical cancer progression by inhibiting the apoptosis of cervical cancer cells via the Stat3/P53 pathway.
Interactions of GMP with Human Glrx3 and with Saccharomyces cerevisiae Grx3 and Grx4 Converge in the Regulation of the Gcn2 Pathway.
Title: Interactions of GMP with Human Glrx3 and with Saccharomyces cerevisiae Grx3 and Grx4 Converge in the Regulation of the Gcn2 Pathway.
The GMPS SNP rs61750370 may be a reliable risk factor for extreme 6MMP preferential metabolism in patients with inflammatory bowel disease
Title: Nonsynonymous Polymorphism in Guanine Monophosphate Synthetase Is a Risk Factor for Unfavorable Thiopurine Metabolite Ratios in Patients With Inflammatory Bowel Disease.
Three genes-ATP6V1G1 in 9q32, GMPS in 3q25.31, and TBX5 in 12q24.21-exhibited concomitant hypermethylation and decreased expression. The i(12p)-positive cells displayed global hypomethylation of gene-poor regions on 12p, a footprint previously associated with constitutional and acquired gains of whole chromosomes as well as with X-chromosome inactivation in females
Title: Methylation and expression analyses of Pallister-Killian syndrome reveal partial dosage compensation of tetrasomy 12p and hypomethylation of gene-poor regions on 12p.
Cytoplasmic sequestration of GMPS requires ubiquitylation by TRIM21.
Title: Nucleotide biosynthetic enzyme GMP synthase is a TRIM21-controlled relay of p53 stabilization.
analysis of USP7/HAUSP activation by its C-terminal ubiquitin-like domain and allosteric regulation by GMP-synthetase
Title: Mechanism of USP7/HAUSP activation by its C-terminal ubiquitin-like domain and allosteric regulation by GMP-synthetase.
Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
Title: Common variants conferring risk of schizophrenia: a pathway analysis of GWAS data.
Observational study of genotype prevalence. (HuGE Navigator)
Title: Genetic variations in the HGPRT, ITPA, IMPDH1, IMPDH2, and GMPS genes in Japanese individuals.

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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

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

RH121689 (e-PCR)
- UniSTS:134428

D3S4088 (e-PCR)
- UniSTS:34338

RH93796 (e-PCR)
- UniSTS:92995

SHGC-16466 (e-PCR)
- UniSTS:36690

D3S3587 (e-PCR), detects polymorphism
- UniSTS:28536

SHGC-50194 (e-PCR)
- UniSTS:8859

SHGC-84195 (e-PCR)
- UniSTS:104690

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables GMP synthase (glutamine-hydrolyzing) activity	EXP Inferred from Experiment more info	PubMed
enables GMP synthase (glutamine-hydrolyzing) activity	IDA Inferred from Direct Assay more info	PubMed
enables GMP synthase activity	IBA Inferred from Biological aspect of Ancestor more info
enables GMP synthase activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in GMP biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within GMP biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in GMP biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in glutamine metabolic process	IEA Inferred from Electronic Annotation more info
involved_in purine nucleobase biosynthetic process	TAS Traceable Author Statement more info	PubMed
involved_in purine ribonucleoside monophosphate biosynthetic process	TAS Traceable Author Statement more info

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

General protein information

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Preferred Names: GMP synthase [glutamine-hydrolyzing]

Names: GMP synthase; GMP synthetase; MLL/GMPS fusion protein; glutamine amidotransferase; guanine monophosphate synthetase; guanosine 5'-monophosphate synthase; testicular tissue protein Li 82

NP_003866.1

EC 6.3.5.2

XP_011511565.1

EC 6.3.5.2

XP_016862911.1

EC 6.3.5.2

XP_047305100.1

EC 6.3.5.2

XP_047305101.1

EC 6.3.5.2

XP_047305102.1

EC 6.3.5.2

XP_054204247.1

EC 6.3.5.2

XP_054204248.1

EC 6.3.5.2

XP_054204249.1

EC 6.3.5.2

XP_054204250.1

EC 6.3.5.2

XP_054204251.1

EC 6.3.5.2

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_023247.1 RefSeqGene

Range

5001..72197

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_003875.3 → NP_003866.1 GMP synthase [glutamine-hydrolyzing]

See identical proteins and their annotated locations for NP_003866.1

Status: REVIEWED

Source sequence(s)

AC067721, BC012178, BG721087, CB159072

Consensus CDS

CCDS46941.1

UniProtKB/Swiss-Prot

A8K639, B4DXV7, F8W720, P49915

UniProtKB/TrEMBL

A0A140VJK6, Q53F90

Related

ENSP00000419851.1, ENST00000496455.7

Conserved Domains (3) summary

cd01742
Location:28 → 207

GATase1_GMP_Synthase; Type 1 glutamine amidotransferase (GATase1) domain found in GMP synthetase

PRK00074
Location:28 → 693

guaA; GMP synthase; Reviewed

cd01997
Location:238 → 692

GMP_synthase_C; The C-terminal domain of GMP synthetase. It contains two subdomains; the ATP pyrophosphatase domain which closes to the N-termial and the dimerization domain at C-terminal end. The ATP-PPase is a twisted, five-stranded parallel beta-sheet sandwiched ...

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000003.12 Reference GRCh38.p14 Primary Assembly

Range

155869430..155944020

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011513263.3 → XP_011511565.1 GMP synthase [glutamine-hydrolyzing] isoform X1

UniProtKB/TrEMBL

Q53F90

Conserved Domains (3) summary

cd01742
Location:34 → 213

GATase1_GMP_Synthase; Type 1 glutamine amidotransferase (GATase1) domain found in GMP synthetase

PRK00074
Location:34 → 699

guaA; GMP synthase; Reviewed

cd01997
Location:244 → 698

GMP_synthase_C; The C-terminal domain of GMP synthetase. It contains two subdomains; the ATP pyrophosphatase domain which closes to the N-termial and the dimerization domain at C-terminal end. The ATP-PPase is a twisted, five-stranded parallel beta-sheet sandwiched ...
XM_047449145.1 → XP_047305101.1 GMP synthase [glutamine-hydrolyzing] isoform X2
XM_017007422.2 → XP_016862911.1 GMP synthase [glutamine-hydrolyzing] isoform X2

UniProtKB/TrEMBL

Q53F90

Conserved Domains (3) summary

cd01742
Location:21 → 200

GATase1_GMP_Synthase; Type 1 glutamine amidotransferase (GATase1) domain found in GMP synthetase

PRK00074
Location:21 → 686

guaA; GMP synthase; Reviewed

cd01997
Location:231 → 685

GMP_synthase_C; The C-terminal domain of GMP synthetase. It contains two subdomains; the ATP pyrophosphatase domain which closes to the N-termial and the dimerization domain at C-terminal end. The ATP-PPase is a twisted, five-stranded parallel beta-sheet sandwiched ...
XM_047449146.1 → XP_047305102.1 GMP synthase [glutamine-hydrolyzing] isoform X3

Related

ENSP00000295920.7, ENST00000295920.7
XM_047449144.1 → XP_047305100.1 GMP synthase [glutamine-hydrolyzing] isoform X2