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GMPR guanosine monophosphate reductase [ Homo sapiens (human) ]

Gene ID: 2766, updated on 8-Jul-2021

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
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
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Genomic context

See GMPR in Genome Data Viewer
Location:
6p22.3
Exon count:
10
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (16238587..16295549)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (16238818..16295780)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene CRISPRi-validated cis-regulatory element chr6.847 Neighboring gene CRISPRi-validated cis-regulatory element chr6.848 Neighboring gene ataxin 1 repeat instability region Neighboring gene ataxin 1 Neighboring gene HNF1 motif-containing MPRA enhancer 207

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

Associated conditions

Description Tests
An atlas of genetic influences on human blood metabolites.
GeneReviews: Not available
Common genetic variation and antidepressant efficacy in major depressive disorder: a meta-analysis of three genome-wide pharmacogenetic studies.
GeneReviews: Not available
Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.
GeneReviews: Not available
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.
GeneReviews: Not available
Genetic variants influencing circulating lipid levels and risk of coronary artery disease.
GeneReviews: Not available
Genome-wide association study of a quantitative disordered gambling trait.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables GMP reductase activity IEA
Inferred from Electronic Annotation
more info
 
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

Preferred Names
GMP reductase 1
Names
guanine monophosphate reductase
guanosine 5'-monophosphate oxidoreductase 1
guanosine monophosphate reductase 1
NP_006868.3
XP_011512810.1

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

  1. NG_013303.1 RefSeqGene

    Range
    5008..61970
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_006877.4NP_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
    Related
    ENSP00000259727.4, ENST00000259727.5
    Conserved Domains (2) summary
    TIGR01305
    Location:3344
    GMP_reduct_1; guanosine monophosphate reductase, eukaryotic
    cd00381
    Location:10336
    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 ...

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

    Range
    16238587..16295549
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011514508.2XP_011512810.1  GMP reductase 1 isoform X1

    Conserved Domains (1) summary
    cd00381
    Location:10233
    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 ...
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