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Aliases for GRHPR Gene

Aliases for GRHPR Gene

  • Glyoxylate Reductase/Hydroxypyruvate Reductase 2 3 5
  • GLXR 3 4
  • Primary Hyperoxaluria Type 2 2
  • Glycerate-2-Dehydrogenase 3
  • EC 1.1.1.79 4
  • EC 1.1.1.81 4
  • GLYD 3
  • PH2 3

External Ids for GRHPR Gene

Previous HGNC Symbols for GRHPR Gene

  • GLXR

Previous GeneCards Identifiers for GRHPR Gene

  • GC09P037734
  • GC09P037592

Summaries for GRHPR Gene

Entrez Gene Summary for GRHPR Gene

  • 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]

GeneCards Summary for GRHPR Gene

GRHPR (Glyoxylate Reductase/Hydroxypyruvate Reductase) is a Protein Coding gene. Diseases associated with GRHPR include hyperoxaluria, primary, type ii and primary hyperoxaluria. Among its related pathways are Metabolism and Viral mRNA Translation. GO annotations related to this gene include protein homodimerization activity and oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor.

UniProtKB/Swiss-Prot for GRHPR Gene

  • Enzyme with hydroxy-pyruvate reductase, glyoxylate reductase and D-glycerate dehydrogenase enzymatic activities. Reduces hydroxypyruvate to D-glycerate, glyoxylate to glycolate oxidizes D-glycerate to hydroxypyruvate.

Gene Wiki entry for GRHPR Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GRHPR Gene

Genomics for GRHPR Gene

Regulatory Elements for GRHPR Gene

Promoters for GRHPR Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around GRHPR on UCSC Golden Path with GeneCards custom track

Genomic Location for GRHPR Gene

Chromosome:
9
Start:
37,422,666 bp from pter
End:
37,436,993 bp from pter
Size:
14,328 bases
Orientation:
Plus strand

Genomic View for GRHPR Gene

Genes around GRHPR on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for GRHPR Gene

Proteins for GRHPR Gene

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

    Protein Symbol:
    Q9UBQ7-GRHPR_HUMAN
    Recommended name:
    Glyoxylate reductase/hydroxypyruvate reductase
    Protein Accession:
    Q9UBQ7
    Secondary Accessions:
    • Q5T945
    • Q9H3E9
    • Q9H636
    • Q9UKX1

    Protein attributes for GRHPR Gene

    Size:
    328 amino acids
    Molecular mass:
    35668 Da
    Quaternary structure:
    • Homodimer.
    SequenceCaution:
    • Sequence=AAD54066.1; Type=Frameshift; Positions=109, 137; Evidence={ECO:0000305}; Sequence=AAG39286.1; Type=Frameshift; Positions=237; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for GRHPR Gene

    Alternative splice isoforms for GRHPR Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GRHPR Gene

Proteomics data for GRHPR Gene at MOPED

Post-translational modifications for GRHPR Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for GRHPR Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for GRHPR Gene

Domains & Families for GRHPR Gene

Graphical View of Domain Structure for InterPro Entry

Q9UBQ7

UniProtKB/Swiss-Prot:

GRHPR_HUMAN :
  • Belongs to the D-isomer specific 2-hydroxyacid dehydrogenase family.
Family:
  • Belongs to the D-isomer specific 2-hydroxyacid dehydrogenase family.
genes like me logo Genes that share domains with GRHPR: view

No data available for Gene Families for GRHPR Gene

Function for GRHPR Gene

Molecular function for GRHPR Gene

GENATLAS Biochemistry:
glyoxylate reductase/hydroxypyruvate NADPH dependent,expressed in liver,kidney and blood
UniProtKB/Swiss-Prot CatalyticActivity:
Glycolate + NADP(+) = glyoxylate + NADPH.
UniProtKB/Swiss-Prot CatalyticActivity:
D-glycerate + NAD(P)(+) = hydroxypyruvate + NAD(P)H.
UniProtKB/Swiss-Prot Function:
Enzyme with hydroxy-pyruvate reductase, glyoxylate reductase and D-glycerate dehydrogenase enzymatic activities. Reduces hydroxypyruvate to D-glycerate, glyoxylate to glycolate oxidizes D-glycerate to hydroxypyruvate.

Enzyme Numbers (IUBMB) for GRHPR Gene

Gene Ontology (GO) - Molecular Function for GRHPR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008465 glycerate dehydrogenase activity IDA 10484776
GO:0016618 hydroxypyruvate reductase activity IDA 10484776
genes like me logo Genes that share ontologies with GRHPR: view
genes like me logo Genes that share phenotypes with GRHPR: view

Human Phenotype Ontology for GRHPR Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for GRHPR Gene

miRTarBase miRNAs that target GRHPR

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for GRHPR Gene

Localization for GRHPR Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GRHPR Gene COMPARTMENTS Subcellular localization image for GRHPR gene
Compartment Confidence
extracellular 5
peroxisome 5
cytosol 4
mitochondrion 3
nucleus 2

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for GRHPR Gene

Pathways & Interactions for GRHPR Gene

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

Gene Ontology (GO) - Biological Process for GRHPR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0046487 glyoxylate metabolic process TAS --
genes like me logo Genes that share ontologies with GRHPR: view

No data available for SIGNOR curated interactions for GRHPR Gene

Drugs & Compounds for GRHPR Gene

(6) Drugs for GRHPR Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Glycolic acid Experimental Pharma 12
Glyoxylic acid Experimental Pharma 0
Hydroxypyruvic acid Experimental Pharma 0
NAD Pharma Full agonist, Agonist 0
calcium Nutra 0

(10) Additional Compounds for GRHPR Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
D-Lactaldehyde
  • (2R)-2-hydroxypropanal
  • (R)-Lactaldehyde
  • D-2-Hydroxypropionaldehyde
  • D-Lactaldehyde
3946-09-6
Glyceric acid
  • (R)-glycerate
  • a,b-Hydroxypropionate
  • a,b-Hydroxypropionic acid
  • D-Glycerate
  • D-Glyceric acid
473-81-4
Hydrogen Ion
  • Hydrogen cation
  • Hydron
  • Proton
NADP
  • Adenine-nicotinamide dinucleotide phosphate
  • b-NADP
  • b-Nicotinamide adenine dinucleotide phosphate
  • b-TPN
  • beta-NADP
53-59-8
nadph
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-b-D-ribofuranosylnicotinamide
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosylnicotinamide
  • Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) P'-5'-ester with 1,4-dihydro-1-beta-D-ribofuranosyl-3-pyridinecarboxamide
  • Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) P'-5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosyl-3-pyridinecarboxamide
  • b-NADPH
53-57-6
genes like me logo Genes that share compounds with GRHPR: view

Transcripts for GRHPR Gene

Unigene Clusters for GRHPR Gene

Glyoxylate reductase/hydroxypyruvate reductase:
Representative Sequences:

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

ExUns: 1a · 1b · 1c · 1d · 1e · 1f ^ 2a · 2b · 2c ^ 3a · 3b · 3c ^ 4a · 4b ^ 5a · 5b · 5c · 5d · 5e · 5f ^ 6a · 6b · 6c · 6d ^ 7a · 7b ·
SP1: - - - - - - - -
SP2: - - - - - - -
SP3: - - - - - - - - -
SP4: - - - - - - - - - -
SP5: - - - - - - - - - - - -
SP6: - - - -
SP7: - - -
SP8: - - - -
SP9: - - -
SP10:
SP11: - - - - - - - - - -
SP12:
SP13: -
SP14: - -
SP15:
SP16: - - - - - - - -
SP17:

ExUns: 7c ^ 8a · 8b · 8c · 8d ^ 9 ^ 10a · 10b · 10c ^ 11 ^ 12
SP1: - - -
SP2: - - -
SP3: - -
SP4: - -
SP5: - - -
SP6: - - - - - -
SP7:
SP8:
SP9:
SP10: - -
SP11:
SP12: - - -
SP13:
SP14:
SP15: -
SP16:
SP17:

Relevant External Links for GRHPR Gene

GeneLoc Exon Structure for
GRHPR
ECgene alternative splicing isoforms for
GRHPR

Expression for GRHPR Gene

mRNA expression in normal human tissues for GRHPR Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Liver (x5.4).

Protein differential expression in normal tissues from HIPED for GRHPR Gene

This gene is overexpressed in Liver, secretome (9.2) and Liver (7.7).

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



SOURCE GeneReport for Unigene cluster for GRHPR Gene Hs.155742

mRNA Expression by UniProt/SwissProt for GRHPR Gene

Q9UBQ7-GRHPR_HUMAN
Tissue specificity: Ubiquitous. Most abundantly expressed in the liver.
genes like me logo Genes that share expression patterns with GRHPR: view

Protein tissue co-expression partners for GRHPR Gene

- Elite partner

Primer Products

In Situ Assay Products

Orthologs for GRHPR Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for GRHPR Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GRHPR 35
  • 99.19 (n)
  • 99.09 (a)
GRHPR 36
  • 65 (a)
OneToOne
cow
(Bos Taurus)
Mammalia GRHPR 36
  • 89 (a)
OneToOne
GRHPR 35
  • 87.8 (n)
  • 88.72 (a)
dog
(Canis familiaris)
Mammalia GRHPR 35
  • 89.54 (n)
  • 93.17 (a)
GRHPR 36
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Grhpr 16
Grhpr 36
  • 86 (a)
OneToOne
Grhpr 35
  • 85.77 (n)
  • 85.67 (a)
oppossum
(Monodelphis domestica)
Mammalia GRHPR 36
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GRHPR 36
  • 64 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Grhpr 35
  • 85.26 (n)
  • 85.67 (a)
chicken
(Gallus gallus)
Aves GRHPR 36
  • 73 (a)
OneToOne
GRHPR 35
  • 72.33 (n)
  • 75.62 (a)
lizard
(Anolis carolinensis)
Reptilia GRHPR 36
  • 73 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia LOC398508 35
tropical clawed frog
(Silurana tropicalis)
Amphibia grhpr.1 35
  • 68.52 (n)
  • 75.62 (a)
Str.15297 35
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6036 35
zebrafish
(Danio rerio)
Actinopterygii grhpra 35
  • 66.26 (n)
  • 72.48 (a)
wufb80f04 35
grhpra 36
  • 72 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP013478 35
  • 57.01 (n)
  • 52.65 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG1236 36
  • 49 (a)
OneToOne
CG1236 37
  • 53 (a)
CG9331 37
  • 51 (a)
CG1236 35
  • 57.29 (n)
  • 53.44 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GOR1 36
  • 27 (a)
OneToOne
GOR1 38
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G79870 35
  • 46.83 (n)
  • 40.08 (a)
rice
(Oryza sativa)
Liliopsida Os01g0228600 35
  • 50.2 (n)
  • 41.96 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 41 (a)
OneToOne
Species with no ortholog for GRHPR:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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)
  • 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for GRHPR Gene

ENSEMBL:
Gene Tree for GRHPR (if available)
TreeFam:
Gene Tree for GRHPR (if available)

Paralogs for GRHPR Gene

(1) SIMAP similar genes for GRHPR Gene using alignment to 5 proteins:

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

No data available for Paralogs for GRHPR Gene

Variants for GRHPR Gene

Sequence variations from dbSNP and Humsavar for GRHPR Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs12002324 - 37,429,747(+) TGCTC(A/G)GCGTC nc-transcript-variant, reference, missense
rs309453 -- 37,433,559(+) aatca(C/T)ctgga intron-variant
rs309454 -- 37,432,494(+) ccgat(A/T)tggtg intron-variant
rs309461 -- 37,429,404(+) TCTCC(C/T)TTGTG intron-variant
rs309462 -- 37,428,799(+) TTGCC(C/T)AAGGG intron-variant, nc-transcript-variant, utr-variant-5-prime

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

Variant ID Type Subtype PubMed ID
nsv893058 CNV Gain 21882294

Variation tolerance for GRHPR Gene

Residual Variation Intolerance Score: 53.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.11; 51.08% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GRHPR Gene

HapMap Linkage Disequilibrium report
GRHPR
Human Gene Mutation Database (HGMD)
GRHPR

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GRHPR Gene

Disorders for GRHPR Gene

MalaCards: The human disease database

(5) MalaCards diseases for GRHPR Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
hyperoxaluria, primary, type ii
  • d-glycerate dehydrogenase deficiency
primary hyperoxaluria
  • hyperoxaluria, primary
nephrolithiasis
  • calculus of kidney and ureter
nephrocalcinosis
  • hypercalcemic nephropathy
acid-labile subunit, deficiency of
  • acid-labile subunit deficiency
- elite association - COSMIC cancer census association via MalaCards
Search GRHPR in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

GRHPR_HUMAN
  • Hyperoxaluria primary 2 (HP2) [MIM:260000]: A disorder characterized by elevated urinary excretion of oxalate and L-glycerate, progressive tissue accumulation of insoluble calcium oxalate, nephrolithiasis, nephrocalcinosis, and end-stage renal disease. {ECO:0000269 PubMed:10484776}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for GRHPR Gene

hyperoxaluria primary type II,autosomal recessive,characterized by nephrolithiasis,nephorcalcinosis leading to oxalosis and renal failure

Relevant External Links for GRHPR

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

Publications for GRHPR Gene

  1. The gene encoding hydroxypyruvate reductase (GRHPR) is mutated in patients with primary hyperoxaluria type II. (PMID: 10484776) Cramer S.D. … Holmes R.P. (Hum. Mol. Genet. 1999) 2 3 4 23 67
  2. Identification and expression of a cDNA for human hydroxypyruvate/glyoxylate reductase. (PMID: 10524214) Rumsby G. … Cregeen D.P. (Biochim. Biophys. Acta 1999) 2 3 23
  3. Late diagnosis of primary hyperoxaluria type 2 in the adult: effect of a novel mutation in GRHPR gene on enzymatic activity and molecular modeling. (PMID: 19296982) Levin-Iaina N. … Holtzman E.J. (J. Urol. 2009) 3 23
  4. A novel mutation in the GRHPR gene in a Japanese patient with primary hyperoxaluria type 2. (PMID: 17510093) Takayama T. … Cramer S.D. (Nephrol. Dial. Transplant. 2007) 3 23
  5. Structural basis of substrate specificity in human glyoxylate reductase/hydroxypyruvate reductase. (PMID: 16756993) Booth M.P.S. … Brady R.L. (J. Mol. Biol. 2006) 3 23

Products for GRHPR Gene

Sources for GRHPR Gene

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