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] See more...

Aliases for GMPR Gene

Aliases for GMPR Gene

  • Guanosine Monophosphate Reductase 2 3 5
  • GMP Reductase 1 2 3 4
  • Guanosine 5'-Monophosphate Oxidoreductase 1 3 4
  • Guanosine Monophosphate Reductase 1 3 4
  • EC 1.7.1.7 4 51
  • GMPR 1 3 4
  • GMPR1 3 4
  • Guanine Monophosphate Reductase 3
  • GMPR 5

External Ids for GMPR Gene

Previous GeneCards Identifiers for GMPR Gene

  • GC06P016296
  • GC06P016346
  • GC06P016187

Summaries for GMPR Gene

Entrez Gene Summary for GMPR Gene

  • 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]

GeneCards Summary for GMPR Gene

GMPR (Guanosine Monophosphate Reductase) is a Protein Coding gene. Diseases associated with GMPR include Cystathioninuria and Hermansky-Pudlak Syndrome 7. Among its related pathways are Metabolism of nucleotides and Metabolism. Gene Ontology (GO) annotations related to this gene include GMP reductase activity. An important paralog of this gene is GMPR2.

UniProtKB/Swiss-Prot Summary for GMPR Gene

  • Catalyzes the irreversible NADPH-dependent deamination of GMP to IMP. It functions in the conversion of nucleobase, nucleoside and nucleotide derivatives of G to A nucleotides, and in maintaining the intracellular balance of A and G nucleotides.

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GMPR Gene

Genomics for GMPR Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for GMPR Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06J016236 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 600.7 +0.3 289 5.3 HNRNPL CTCF PRDM10 ZNF512 IKZF1 JUND FOXA1 PRDM1 MTA2 PHF21A GMPR lnc-ATXN1-3 piR-32559-370 RF00017-5305 ATXN1
GH06J016204 Enhancer 1.5 Ensembl ENCODE CraniofacialAtlas dbSUPER 20.9 -32.6 -32586 2.8 SP1 CTCF ZNF629 IKZF1 JUND FOXA1 STAT3 GABPA DDX20 ZNF143 RNU6-1114P RF00026-919 GMPR RF00017-5305 piR-35564-124 MYLIP
GH06J016214 Enhancer 1.4 FANTOM5 ENCODE dbSUPER 11.9 -23.1 -23072 2.6 ZNF512 LEF1 IKZF1 JUND MTA2 PHF21A PKNOX1 ZNF24 MTA1 REST piR-35564-124 GMPR MYLIP RF00026-919 RNU6-1114P RF00017-5305
GH06J016260 Promoter/Enhancer 1.2 Ensembl dbSUPER 9.7 +24.5 24514 3.4 LEF1 IKZF1 DDX20 MTA2 PHF21A MTA1 NR2C1 ZNF24 DPF2 HDAC1 ENSG00000282024 piR-32559-371 piR-37656-228 GMPR RF00017-5305 ATXN1
GH06J016222 Enhancer 1.2 Ensembl ENCODE dbSUPER 8.9 -14.7 -14733 2.5 LEF1 IKZF1 JUND MTA2 MTA1 REST NR2C1 ZNF740 DPF2 HDAC1 piR-31534-577 piR-61101-571 GMPR piR-35564-124 RF00017-5305 MYLIP
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GMPR on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GMPR

Top Transcription factor binding sites by QIAGEN in the GMPR gene promoter:
  • aMEF-2
  • AP-4
  • E47
  • LCR-F1
  • MEF-2A
  • S8
  • SREBP-1a
  • SREBP-1b
  • SREBP-1c
  • Tal-1beta

Genomic Locations for GMPR Gene

Genomic Locations for GMPR Gene
chr6:16,238,587-16,295,549
(GRCh38/hg38)
Size:
56,963 bases
Orientation:
Plus strand
chr6:16,238,811-16,295,780
(GRCh37/hg19)
Size:
56,970 bases
Orientation:
Plus strand

Genomic View for GMPR Gene

Genes around GMPR on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GMPR Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GMPR Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GMPR Gene

Proteins for GMPR Gene

  • Protein details for GMPR Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P36959-GMPR1_HUMAN
    Recommended name:
    GMP reductase 1
    Protein Accession:
    P36959
    Secondary Accessions:
    • Q96HQ6

    Protein attributes for GMPR Gene

    Size:
    345 amino acids
    Molecular mass:
    37419 Da
    Quaternary structure:
    • Homotetramer.

    Three dimensional structures from OCA and Proteopedia for GMPR Gene

neXtProt entry for GMPR Gene

Selected DME Specific Peptides for GMPR Gene

P36959:
  • IISDGGC
  • AGNVVTG
  • KLDFKDVLLRPKRS
  • GSVCTTR
  • GYPQLSA
  • EELILSGAD
  • GADFVMLGGM
  • DVANGYSE
  • NMDTVGTF
  • RSTCTYVGA
  • GGVAEYRA
  • KLFYGMSS
  • FRNSKQTYSG
  • PGDVAKAFG
  • DILGGLRS

Post-translational modifications for GMPR Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for GMPR Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for GMPR Gene

Gene Families for GMPR Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for GMPR Gene

InterPro:
Blocks:
  • IMP dehydrogenase/GMP reductase
ProtoNet:

Suggested Antigen Peptide Sequences for GMPR Gene

GenScript: Design optimal peptide antigens:
  • Guanosine 5'-monophosphate oxidoreductase 1 (GMPR1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P36959

UniProtKB/Swiss-Prot:

GMPR1_HUMAN :
  • Belongs to the IMPDH/GMPR family. GuaC type 1 subfamily.
Family:
  • Belongs to the IMPDH/GMPR family. GuaC type 1 subfamily.
genes like me logo Genes that share domains with GMPR: view

Function for GMPR Gene

Molecular function for GMPR Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the irreversible NADPH-dependent deamination of GMP to IMP. It functions in the conversion of nucleobase, nucleoside and nucleotide derivatives of G to A nucleotides, and in maintaining the intracellular balance of A and G nucleotides.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=IMP + NADP(+) + NH4(+) = GMP + 2 H(+) + NADPH; Xref=Rhea:RHEA:17185, ChEBI:CHEBI:15378, ChEBI:CHEBI:28938, ChEBI:CHEBI:57783, ChEBI:CHEBI:58053, ChEBI:CHEBI:58115, ChEBI:CHEBI:58349; EC=1.7.1.7; Evidence={ECO:0000255|HAMAP-Rule:MF_03195};.
GENATLAS Biochemistry:
guanosine monophosphate reductase

Enzyme Numbers (IUBMB) for GMPR Gene

Phenotypes From GWAS Catalog for GMPR Gene

Gene Ontology (GO) - Molecular Function for GMPR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
GO:0003920 GMP reductase activity TAS --
GO:0016491 oxidoreductase activity IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with GMPR: view
genes like me logo Genes that share phenotypes with GMPR: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GMPR

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for GMPR Gene

Localization for GMPR Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GMPR gene
Compartment Confidence
cytosol 4
mitochondrion 3
nucleus 2
plasma membrane 1
extracellular 1
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1
lysosome 1

Gene Ontology (GO) - Cellular Components for GMPR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:1902560 GMP reductase complex IEA --
genes like me logo Genes that share ontologies with GMPR: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for GMPR Gene

Pathways & Interactions for GMPR Gene

PathCards logo

SuperPathways for GMPR Gene

genes like me logo Genes that share pathways with GMPR: view

Pathways by source for GMPR Gene

2 KEGG pathways for GMPR Gene

Gene Ontology (GO) - Biological Process for GMPR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006144 purine nucleobase metabolic process IEA --
GO:0006163 purine nucleotide metabolic process IEA --
GO:0009117 nucleotide metabolic process IEA --
GO:0009409 response to cold TAS 9813009
GO:0015951 purine ribonucleotide interconversion IBA --
genes like me logo Genes that share ontologies with GMPR: view

No data available for SIGNOR curated interactions for GMPR Gene

Drugs & Compounds for GMPR Gene

(5) Drugs for GMPR Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Ammonia Approved Pharma 0
Guanosine monophosphate Experimental Pharma Target 0
NADPH Experimental Pharma 0
Inosinic acid Experimental Pharma 0
NADP Experimental Pharma 0

(2) Additional Compounds for GMPR Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Hydrogen Ion
  • H+
  • H(+)
  • Hydrogen cation
  • Hydron
  • Proton
genes like me logo Genes that share compounds with GMPR: view

Transcripts for GMPR Gene

mRNA/cDNA for GMPR Gene

1 REFSEQ mRNAs :
1 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GMPR

Alternative Splicing Database (ASD) splice patterns (SP) for GMPR Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b
SP1: - -
SP2:
SP3: - -

Relevant External Links for GMPR Gene

GeneLoc Exon Structure for
GMPR

Expression for GMPR Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for GMPR Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GMPR Gene

This gene is overexpressed in Muscle - Skeletal (x11.5), Heart - Left Ventricle (x4.8), and Whole Blood (x4.5).

Protein differential expression in normal tissues from HIPED for GMPR Gene

This gene is overexpressed in Peripheral blood mononuclear cells (17.0), Spinal cord (13.4), and Platelet (12.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for GMPR Gene



Protein tissue co-expression partners for GMPR Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GMPR

SOURCE GeneReport for Unigene cluster for GMPR Gene:

Hs.484741

Evidence on tissue expression from TISSUES for GMPR Gene

  • Muscle(2.8)
  • Skin(2.7)
  • Heart(2.2)
  • Blood(2.2)
genes like me logo Genes that share expression patterns with GMPR: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for GMPR Gene

Orthologs for GMPR Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for GMPR Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia GMPR 30 31
  • 99.13 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia GMPR 30 31
  • 90.43 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia GMPR 30 31
  • 89.28 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia GMPR 31
  • 89 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Gmpr 30
  • 87.6 (n)
Mouse
(Mus musculus)
Mammalia Gmpr 30 17 31
  • 87.4 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia GMPR 31
  • 70 (a)
OneToOne
Chicken
(Gallus gallus)
Aves GMPR 30 31
  • 79.13 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia GMPR 31
  • 85 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia gmpr 30
  • 75.65 (n)
Str.7390 30
Zebrafish
(Danio rerio)
Actinopterygii gmpr 30 31
  • 74.88 (n)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea F32D1.5 31 32
  • 67 (a)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes IMD2 31
  • 20 (a)
ManyToMany
IMD4 31
  • 19 (a)
ManyToMany
IMD3 31
  • 19 (a)
ManyToMany
IMD1 31
  • 17 (a)
ManyToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.8181 31
  • 14 (a)
OneToMany
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.2163 30
Species where no ortholog for GMPR was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for GMPR Gene

ENSEMBL:
Gene Tree for GMPR (if available)
TreeFam:
Gene Tree for GMPR (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GMPR: view image

Paralogs for GMPR Gene

Paralogs for GMPR Gene

(1) SIMAP similar genes for GMPR Gene using alignment to 1 proteins:

  • GMPR1_HUMAN

Pseudogenes.org Pseudogenes for GMPR Gene

genes like me logo Genes that share paralogs with GMPR: view

Variants for GMPR Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for GMPR Gene

GMPR1_HUMAN-P36959
At least two different alleles are known.

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GMPR Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
712612 Benign: not provided 16,274,423(+) C/T SYNONYMOUS_VARIANT
716350 Benign: not provided 16,290,511(+) G/A SYNONYMOUS_VARIANT
717922 Benign: not provided 16,295,047(+) A/T MISSENSE_VARIANT
717923 Benign: not provided 16,295,116(+) A/AACTC FRAMESHIFT_VARIANT
731036 Likely Benign: not provided 16,290,617(+) T/TAC FRAMESHIFT_VARIANT

Additional dbSNP identifiers (rs#s) for GMPR Gene

Structural Variations from Database of Genomic Variants (DGV) for GMPR Gene

Variant ID Type Subtype PubMed ID
dgv989e201 CNV deletion 23290073
esv2167446 CNV deletion 18987734
esv2731621 CNV deletion 23290073
esv2731622 CNV deletion 23290073
esv3567319 CNV deletion 23714750
esv3608192 CNV loss 21293372
esv3608193 CNV gain 21293372
nsv1137067 CNV deletion 24896259
nsv521185 CNV loss 19592680
nsv521653 CNV loss 19592680

Variation tolerance for GMPR Gene

Residual Variation Intolerance Score: 60.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.97; 36.43% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GMPR Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
GMPR

SNP Genotyping and Copy Number Assay Products

Disorders for GMPR Gene

MalaCards: The human disease database

(4) MalaCards diseases for GMPR Gene - From: DISEASES

Disorder Aliases PubMed IDs
cystathioninuria
  • cystathionase deficiency
hermansky-pudlak syndrome 7
  • albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells
hemochromatosis, type 1
  • hfe1
wolff-parkinson-white syndrome
  • wpw syndrome
- elite association - COSMIC cancer census association via MalaCards
Search GMPR in MalaCards View complete list of genes associated with diseases

Additional Disease Information for GMPR

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with GMPR: view

No data available for UniProtKB/Swiss-Prot and Genatlas for GMPR Gene

Publications for GMPR Gene

  1. Genetic variants influencing circulating lipid levels and risk of coronary artery disease. (PMID: 20864672) Waterworth DM … Sandhu MS (Arteriosclerosis, thrombosis, and vascular biology 2010) 3 41
  2. Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis. (PMID: 19936222) Chasman DI … Ridker PM (PLoS genetics 2009) 3 41
  3. Crystal structure of human guanosine monophosphate reductase 2 (GMPR2) in complex with GMP. (PMID: 16359702) Li J … Mao Y (Journal of molecular biology 2006) 3 23
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  5. The DNA sequence and analysis of human chromosome 6. (PMID: 14574404) Mungall AJ … Beck S (Nature 2003) 3 4

Products for GMPR Gene

Sources for GMPR Gene