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

    Gene ID: 9380, updated on 3-Nov-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
    mouse all
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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
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (37422435..37439494)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (37446127..37461475)
    RS_2024_09 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 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: Definitive identification in human liver mitochondria, its importance for the compartment-specific detoxification of glyoxylate. Garrelfs SF, et al. J Inherit Metab Dis, 2024 Mar. PMID 38200664
    2. Cloning and characterization of a putative human d-2-hydroxyacid dehydrogenase in chromosome 9q. Huang T, et al. Biochem Biophys Res Commun, 2000 Feb 16. PMID 10679197
    3. 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
    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. Primary Hyperoxaluria Type 2. Adam MP, et al. , 1993. PMID 20301742

    See all (57) 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
    		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)

    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 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 (NADH) activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables hydroxypyruvate reductase (NADH) activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables hydroxypyruvate reductase (NADPH) activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables hydroxypyruvate reductase [NAD(P)H] 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 mitochondrion HTP 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_2024_08

    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

    Gene LinkOut

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

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