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

Gene ID: 9380, updated on 11-Apr-2024

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; AllianceGenome:HGNC:4570
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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Location:
9p13.2
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (37422435..37439494)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (37446127..37461475)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (37422693..37436987)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124902153 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:37385483-37385983 Neighboring gene long intergenic non-protein coding RNA 1627 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28388 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28389 Neighboring gene Sharpr-MPRA regulatory region 4136 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28390 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28391 Neighboring gene uncharacterized LOC124902154 Neighboring gene uncharacterized LOC105376035 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28392 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:37410141-37410932 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28394 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:37412515-37413305 Neighboring gene Sharpr-MPRA regulatory region 8540 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:37422039-37422664 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:37422665-37423290 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:37424965-37425905 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:37428038-37428538 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:37428539-37429039 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:37434399-37435037 Neighboring gene coiled-coil-helix-coiled-coil-helix domain containing 4 pseudogene 3 Neighboring gene zinc finger and BTB domain containing 5 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:37464369-37465054 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr9:37465055-37465740 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:37465741-37466426 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:37466427-37467112 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:37468922-37469753 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:37477128-37478327 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:37485410-37486001 Neighboring gene potassium channel tetramerization domain containing 9 pseudogene 3 Neighboring gene RNA polymerase I subunit E Neighboring gene ribosomal protein L21 pseudogene 83

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. Glyoxylate reductase/hydroxypyruvate reductase regulates the free d-aspartate level in mammalian cells. Katane M, et al. J Cell Biochem, 2021 Nov. PMID 34289161
  2. Ethnic differences in GRHPR mutations in patients with primary hyperoxaluria type 2. Takayama T, et al. Clin Genet, 2014 Oct. PMID 24116921
  3. Glyoxylate reductase/hydroxypyruvate reductase: a novel prognostic marker for hepatocellular carcinoma patients after curative resection. Pan Y, et al. Pathobiology, 2013. PMID 23486161
  4. Primary Hyperoxaluria Type 2. Adam MP, et al. , 1993. PMID 20301742
  5. 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

See all (51) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Glyoxylate reductase: Definitive identification in human liver mitochondria, its importance for the compartment-specific detoxification of glyoxylate.
    Title: Glyoxylate reductase: Definitive identification in human liver mitochondria, its importance for the compartment-specific detoxification of glyoxylate.
  2. Glyoxylate reductase/hydroxypyruvate reductase regulates the free d-aspartate level in mammalian cells.
    Title: Glyoxylate reductase/hydroxypyruvate reductase regulates the free d-aspartate level in mammalian cells.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. 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
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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
enables NAD binding IEA
Inferred from Electronic Annotation
more info
  
enables NADPH binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables carboxylic acid binding IEA
Inferred from Electronic Annotation
more info
  
enables glycerate dehydrogenase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables glycerate dehydrogenase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables glyoxylate reductase (NADPH) activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables glyoxylate reductase (NADPH) activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables glyoxylate reductase (NADPH) activity TAS
Traceable Author Statement
more info
  
enables hydroxypyruvate reductase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables hydroxypyruvate reductase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein homodimerization activity IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in carboxylic acid metabolic process TAS
Traceable Author Statement
more info
  
involved_in dicarboxylic acid metabolic process IEA
Inferred from Electronic Annotation
more info
  
involved_in glyoxylate metabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
part_of catalytic complex IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
  
is_active_in cytosol IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in extracellular exosome HDA PubMed 
located_in 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_047280040.1
XP_047280041.1
XP_054220158.1
XP_054220159.1
XP_054220160.1
XP_054220161.1
XP_054220162.1
XP_054220163.1

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
    Q5T945, Q9H3E9, Q9H636, Q9UBQ7, Q9UKX1
    UniProtKB/TrEMBL
    A0A384N605, Q5M7Z5
    Related
    ENSP00000313432.6, ENST00000318158.11
    Conserved Domains (1) summary
    cd05301
    Location:7 → 319
    GDH; D-glycerate dehydrogenase/hydroxypyruvate reductase (GDH)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

    Range
    37422435..37439494
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024447716.2 → 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_017015321.3 → XP_016870810.1  glyoxylate reductase/hydroxypyruvate reductase isoform X3

    UniProtKB/TrEMBL
    U3KQ56

  3. XM_017015320.3 → XP_016870809.1  glyoxylate reductase/hydroxypyruvate reductase isoform X2

    UniProtKB/TrEMBL
    U3KQ56

  4. XM_047424084.1 → XP_047280040.1  glyoxylate reductase/hydroxypyruvate reductase isoform X4

  5. XM_005251631.2 → 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

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

  7. XM_047424085.1 → XP_047280041.1  glyoxylate reductase/hydroxypyruvate reductase isoform X7

RNA

  1. XR_002956828.2 RNA Sequence

  2. XR_007061375.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060933.1 Alternate T2T-CHM13v2.0

    Range
    37446127..37461475
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054364183.1 → XP_054220158.1  glyoxylate reductase/hydroxypyruvate reductase isoform X1

  2. XM_054364184.1 → XP_054220159.1  glyoxylate reductase/hydroxypyruvate reductase isoform X2

  3. XM_054364185.1 → XP_054220160.1  glyoxylate reductase/hydroxypyruvate reductase isoform X4

  4. XM_054364186.1 → XP_054220161.1  glyoxylate reductase/hydroxypyruvate reductase isoform X5

  5. XM_054364187.1 → XP_054220162.1  glyoxylate reductase/hydroxypyruvate reductase isoform X6

  6. XM_054364188.1 → XP_054220163.1  glyoxylate reductase/hydroxypyruvate reductase isoform X7

RNA

  1. XR_008488108.1 RNA Sequence

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

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