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GRHPR glyoxylate and hydroxypyruvate reductase [ Homo sapiens (human) ]

Gene ID: 9380, updated on 2-Mar-2021

Summary

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Official Symbol
GRHPRprovided by HGNC
Official Full Name
glyoxylate and hydroxypyruvate reductaseprovided by HGNC
Primary source
HGNC:HGNC:4570
See related
Ensembl:ENSG00000137106 MIM:604296
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
PH2; GLXR; GLYD
Summary
This gene encodes an enzyme with hydroxypyruvate reductase, glyoxylate reductase, and D-glycerate dehydrogenase enzymatic activities. The enzyme has widespread tissue expression and has a role in metabolism. Type II hyperoxaluria is caused by mutations in this gene. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in liver (RPKM 132.9), kidney (RPKM 67.4) and 24 other tissues See more
Orthologs
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Genomic context

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See GRHPR in Genome Data Viewer
Location:
9p13.2
Exon count:
12
Annotation release Status Assembly Chr Location
109.20210226 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (37422435..37438952)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (37422693..37436987)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene zinc finger CCHC-type containing 7 Neighboring gene RNA, U6 small nuclear 677, pseudogene Neighboring gene uncharacterized LOC105376035 Neighboring gene long intergenic non-protein coding RNA 1627 Neighboring gene coiled-coil-helix-coiled-coil-helix domain containing 4 pseudogene 3 Neighboring gene zinc finger and BTB domain containing 5 Neighboring gene potassium channel tetramerization domain containing 9 pseudogene 3 Neighboring gene ribosomal protein L21 pseudogene 83 Neighboring gene RNA polymerase I subunit E

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. Ethnic differences in GRHPR mutations in patients with primary hyperoxaluria type 2. Takayama T, et al. Clin Genet, 2014 Oct. PMID 24116921
  2. Glyoxylate reductase/hydroxypyruvate reductase: a novel prognostic marker for hepatocellular carcinoma patients after curative resection. Pan Y, et al. Pathobiology, 2013. PMID 23486161
  3. Primary Hyperoxaluria Type 2 Rumsby G, et al. , 1993. PMID 20301742
  4. Late diagnosis of primary hyperoxaluria type 2 in the adult: effect of a novel mutation in GRHPR gene on enzymatic activity and molecular modeling. Levin-Iaina N, et al. J Urol, 2009 May. PMID 19296982
  5. Identification of missense, nonsense, and deletion mutations in the GRHPR gene in patients with primary hyperoxaluria type II (PH2). Webster KE, et al. Hum Genet, 2000 Aug. PMID 11030416

See all (41) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. GRHPR was genotyped in Japanese patients with PH2 and all GRHPR mutations described to date were reviewed in terms of geographic and ethnic association
    Title: Ethnic differences in GRHPR mutations in patients with primary hyperoxaluria type 2.
  2. Our findings suggest that the GRHPR defect in noncancerous tissues may represent an independent predictor of poor survival for hepatocellular carcinoma patients after curative resection
    Title: Glyoxylate reductase/hydroxypyruvate reductase: a novel prognostic marker for hepatocellular carcinoma patients after curative resection.
  3. GRHPR directly interacts with SVCT1.
    Title: Glyoxalate reductase/hydroxypyruvate reductase interacts with the sodium-dependent vitamin C transporter-1 to regulate cellular vitamin C homeostasis.
  4. Observational study of gene-disease association. (HuGE Navigator)
    Title: Late diagnosis of primary hyperoxaluria type 2 in the adult: effect of a novel mutation in GRHPR gene on enzymatic activity and molecular modeling.
  5. the GRHPR gene may have a role in primary hyperoxaluria type 2 in a Japanese patient [case report]
    Title: A novel mutation in the GRHPR gene in a Japanese patient with primary hyperoxaluria type 2.
  6. substrate specificity of human glyoxylate reductase
    Title: Structural basis of substrate specificity in human glyoxylate reductase/hydroxypyruvate reductase.
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

Associated conditions

Description Tests
Primary hyperoxaluria, type II
MedGen: C0268165 OMIM: 260000 GeneReviews: Primary Hyperoxaluria Type 2
Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
NAD binding TAS
Traceable Author Statement
more info
 PubMed 
NADPH binding IDA
Inferred from Direct Assay
more info
 PubMed 
glycerate dehydrogenase activity IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
glycerate dehydrogenase activity IDA
Inferred from Direct Assay
more info
 PubMed 
glyoxylate reductase (NADP+) activity IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
glyoxylate reductase (NADP+) activity IDA
Inferred from Direct Assay
more info
 PubMed 
glyoxylate reductase (NADP+) activity TAS
Traceable Author Statement
more info
  
hydroxypyruvate reductase activity IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
hydroxypyruvate reductase activity IDA
Inferred from Direct Assay
more info
 PubMed 
protein homodimerization activity IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
cellular nitrogen compound metabolic process TAS
Traceable Author Statement
more info
  
excretion IMP
Inferred from Mutant Phenotype
more info
 PubMed 
glyoxylate metabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
catalytic complex IDA
Inferred from Direct Assay
more info
 PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
  
cytosol IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
extracellular exosome HDA PubMed 
peroxisomal matrix TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
glyoxylate reductase/hydroxypyruvate reductase
Names
epididymis secretory sperm binding protein
glycerate-2-dehydrogenase
glyoxylate reductase and hydroxypyruvate reductase
NP_036335.1
XP_005251688.1
XP_016870809.1
XP_016870810.1
XP_016870812.1
XP_024303484.1
XP_024303485.1

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_008135.1 RefSeqGene

    Range
    4987..19281
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_012203.2 → NP_036335.1  glyoxylate reductase/hydroxypyruvate reductase

    See identical proteins and their annotated locations for NP_036335.1

    Status: REVIEWED

    Source sequence(s)
    AF134895, AL158155
    Consensus CDS
    CCDS6609.1
    UniProtKB/Swiss-Prot
    Q9UBQ7
    Related
    ENSP00000313432.6, ENST00000318158.11
    Conserved Domains (1) summary
    cd05301
    Location:7 → 319
    GDH; D-glycerate dehydrogenase/hydroxypyruvate reductase (GDH)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210226

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p13 Primary Assembly

    Range
    37422435..37438952
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024447716.1 → XP_024303484.1  glyoxylate reductase/hydroxypyruvate reductase isoform X1

    Conserved Domains (1) summary
    cd05301
    Location:117 → 379
    GDH; D-glycerate dehydrogenase/hydroxypyruvate reductase (GDH)

  2. XM_024447717.1 → XP_024303485.1  glyoxylate reductase/hydroxypyruvate reductase isoform X2

    Conserved Domains (1) summary
    cd05301
    Location:117 → 379
    GDH; D-glycerate dehydrogenase/hydroxypyruvate reductase (GDH)

  3. XM_017015323.2 → XP_016870812.1  glyoxylate reductase/hydroxypyruvate reductase isoform X6

  4. XM_017015320.2 → XP_016870809.1  glyoxylate reductase/hydroxypyruvate reductase isoform X3

  5. XM_017015321.2 → XP_016870810.1  glyoxylate reductase/hydroxypyruvate reductase isoform X4

  6. XM_005251631.1 → XP_005251688.1  glyoxylate reductase/hydroxypyruvate reductase isoform X5

    See identical proteins and their annotated locations for XP_005251688.1

    Conserved Domains (2) summary
    COG1052
    Location:11 → 220
    LdhA; Lactate dehydrogenase or related 2-hydroxyacid dehydrogenase [Energy production and conversion, Coenzyme transport and metabolism, General function prediction only]
    cl21454
    Location:11 → 212
    NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

RNA

  1. XR_002956828.1 RNA Sequence

  2. XR_002956829.1 RNA Sequence

  3. XR_002956832.1 RNA Sequence

  4. XR_002956830.1 RNA Sequence

  5. XR_002956831.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9UBQ7.1 GenPept UniProtKB/Swiss-Prot:Q9UBQ7

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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