GMPR guanosine monophosphate reductase [Homo sapiens (human)] - Gene

Summary

Official Symbol: GMPRprovided by HGNC
Official Full Name: guanosine monophosphate reductaseprovided by HGNC
Primary source: HGNC:HGNC:4376
See related: Ensembl:ENSG00000137198 MIM:139265; AllianceGenome:HGNC:4376
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: GMPR1; GMPR 1
Summary: This gene encodes an enzyme that catalyzes the irreversible and NADPH-dependent reductive deamination of GMP to IMP. The protein also functions in the re-utilization of free intracellular bases and purine nucleosides.[provided by RefSeq, Oct 2009]
Expression: Broad expression in prostate (RPKM 33.0), testis (RPKM 29.5) and 19 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 6p22.3

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (16238587..16295549)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (16111201..16168104)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (16238818..16295780)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

New biochemical insights into the dynamics of water molecules at the GMP or IMP binding site of human GMPR enzyme: A molecular dynamics study.
Title: New biochemical insights into the dynamics of water molecules at the GMP or IMP binding site of human GMPR enzyme: A molecular dynamics study.
GMPR as a suppressor of melanoma invasion is downregulated at the early invasive stages of melanoma progression and whose activity inhibits melanoma cell invasion by depleting intracellular GTP pools.
Title: A purine nucleotide biosynthesis enzyme guanosine monophosphate reductase is a suppressor of melanoma invasion.
Observational study, meta-analysis, and genome-wide association study of gene-disease association. (HuGE Navigator)
Title: Genetic variants influencing circulating lipid levels and risk of coronary artery disease.
Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
Title: Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis.

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
An atlas of genetic influences on human blood metabolites. EBI GWAS Catalog EBI GWAS CatalogPubMed
Common genetic variation and antidepressant efficacy in major depressive disorder: a meta-analysis of three genome-wide pharmacogenetic studies. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetic determinants of statin-induced low-density lipoprotein cholesterol reduction: the Justification for the Use of Statins in Prevention: an Intervention Trial Evaluating Rosuvastatin (JUPITER) trial. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetic variants influencing circulating lipid levels and risk of coronary artery disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of a quantitative disordered gambling trait. 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

RH17680 (e-PCR)
- UniSTS:54020

AL008736 (e-PCR)
- UniSTS:52580

G44372 (e-PCR)
- UniSTS:95157

RH92529 (e-PCR)
- UniSTS:92917

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables GMP reductase activity	IDA Inferred from Direct Assay more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in purine nucleobase metabolic process	IEA Inferred from Electronic Annotation more info
involved_in purine nucleotide metabolic process	IEA Inferred from Electronic Annotation more info
involved_in response to cold	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
part_of GMP reductase complex	IEA Inferred from Electronic Annotation more info
located_in cytosol	TAS Traceable Author Statement more info

General protein information

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Preferred Names: GMP reductase 1

Names: guanine monophosphate reductase; guanosine 5'-monophosphate oxidoreductase 1; guanosine monophosphate reductase 1

NP_006868.3

EC 1.7.1.7

XP_047274612.1

EC 1.7.1.7

XP_054211172.1

EC 1.7.1.7

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_013303.1 RefSeqGene

Range

5008..61970

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_006877.4 → NP_006868.3 GMP reductase 1

See identical proteins and their annotated locations for NP_006868.3

Status: REVIEWED

Source sequence(s)

AL009031, BC008281

Consensus CDS

CCDS4537.1

UniProtKB/Swiss-Prot

P36959, Q96HQ6

Related

ENSP00000259727.4, ENST00000259727.5

Conserved Domains (2) summary

TIGR01305
Location:3 → 344

GMP_reduct_1; guanosine monophosphate reductase, eukaryotic

cd00381
Location:10 → 336

IMPDH; IMPDH: The catalytic domain of the inosine monophosphate dehydrogenase. IMPDH catalyzes the NAD-dependent oxidation of inosine 5'-monophosphate (IMP) to xanthosine 5' monophosphate (XMP). It is a rate-limiting step in the de novo synthesis of the guanine ...