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Aliases for GRHPR Gene

Aliases for GRHPR Gene

  • Glyoxylate And Hydroxypyruvate Reductase 2 3 5
  • Glyoxylate Reductase And Hydroxypyruvate Reductase 2 3
  • Glyoxylate Reductase/Hydroxypyruvate Reductase 2 3
  • 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 And Hydroxypyruvate Reductase) is a Protein Coding gene. Diseases associated with GRHPR include Hyperoxaluria, Primary, Type Ii and D-Glycericacidemia. Among its related pathways are Glycine, serine and threonine metabolism and Metabolism. 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

Enhancers for GRHPR Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH09F037421 0.2 ENCODE 72.5 +0.7 665 3.3 HDGF PKNOX1 MLX CREB3L1 WRNIP1 ARID4B SIN3A DMAP1 ZNF143 SP3 GRHPR TRMT10B CHCHD4P3
GH09F037404 1.2 FANTOM5 Ensembl ENCODE 15 -13.3 -13250 9.0 HDGF PKNOX1 WRNIP1 SIN3A ARID4B ZNF48 ZNF143 ZNF207 JUNB REST GRHPR ZBTB5 ENSG00000234160 PAX5 ZCCHC7 TOMM5 POLR1E LINC01627
GH09F037449 0.2 ENCODE 11.8 +27.3 27313 0.2 CTCF GRHPR GC09M037461 PIR45700
GH09F037463 0.7 Ensembl ENCODE 11.3 +43.6 43599 5.8 HDGF PKNOX1 ARNT CREB3L1 ARID4B SIN3A DMAP1 YY1 SLC30A9 ZNF766 ZBTB5 EXOSC3 RPL21P83 GRHPR TMX2P1 KCTD9P3
GH09F037476 0.2 ENCODE 11 +54.4 54393 0.2 ENSG00000234160 GRHPR KCTD9P3 ZBTB5
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around GRHPR on UCSC Golden Path with GeneCards custom track

Promoters for GRHPR Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001303267 234 1401 HDGF PKNOX1 MLX CREB3L1 WRNIP1 ARID4B SIN3A DMAP1 ZNF143 SP3

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

Post-translational modifications for GRHPR Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

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:0016491 oxidoreductase activity IEA --
GO:0016616 oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor IEA --
GO:0016618 hydroxypyruvate reductase activity IEA,IDA 10484776
GO:0030267 glyoxylate reductase (NADP) activity TAS --
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

  • Taconic Biosciences Mouse Models for GRHPR

miRNA for GRHPR Gene

miRTarBase miRNAs that target GRHPR

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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

Gene Ontology (GO) - Cellular Components for GRHPR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA --
GO:0005782 peroxisomal matrix TAS --
GO:0005829 cytosol IBA --
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with GRHPR: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot 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:0007588 excretion IMP 10484776
GO:0008152 metabolic process NAS 10524214
GO:0043648 dicarboxylic acid metabolic process IEA --
GO:0046487 glyoxylate metabolic process TAS --
GO:0051259 protein oligomerization IDA 16756993
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

(5) Drugs for GRHPR Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Glycolic acid Experimental Pharma 14
Hydroxypyruvic acid Experimental Pharma 0
NAD Pharma Full agonist, Agonist 0
calcium Nutra 0
NADH Nutra 0

(11) 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
Glyoxylic acid
  • a-Ketoacetate
  • a-Ketoacetic acid
  • alpha-Ketoacetate
  • alpha-Ketoacetic acid
  • Formylformate
298-12-4
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
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:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for GRHPR Gene



Protein tissue co-expression partners for GRHPR Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of GRHPR Gene:

GRHPR

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

Primer 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 34 35
  • 99.19 (n)
dog
(Canis familiaris)
Mammalia GRHPR 34 35
  • 89.54 (n)
cow
(Bos Taurus)
Mammalia GRHPR 34 35
  • 87.8 (n)
mouse
(Mus musculus)
Mammalia Grhpr 34 16 35
  • 85.77 (n)
rat
(Rattus norvegicus)
Mammalia Grhpr 34
  • 85.26 (n)
oppossum
(Monodelphis domestica)
Mammalia GRHPR 35
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GRHPR 35
  • 64 (a)
OneToOne
chicken
(Gallus gallus)
Aves GRHPR 34 35
  • 72.33 (n)
lizard
(Anolis carolinensis)
Reptilia GRHPR 35
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia grhpr.1 34
  • 68.52 (n)
Str.15297 34
African clawed frog
(Xenopus laevis)
Amphibia LOC398508 34
zebrafish
(Danio rerio)
Actinopterygii grhpra 34 35
  • 66.26 (n)
wufb80f04 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6036 34
fruit fly
(Drosophila melanogaster)
Insecta CG1236 36 34 35
  • 57.29 (n)
CG9331 36
  • 51 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP013478 34
  • 57.01 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GOR1 35 37
  • 27 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G79870 34
  • 46.83 (n)
rice
(Oryza sativa)
Liliopsida Os01g0228600 34
  • 50.2 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 41 (a)
OneToOne
Species where no ortholog for GRHPR was found in the sources mined by GeneCards:
  • 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
rs119490108 Pathogenic 37,426,545(+) GGATC(C/T)GAGTT intron-variant, reference, stop-gained, utr-variant-5-prime
rs180177304 Pathogenic 37,424,863(+) CAGTG(A/G)GACTC intron-variant, reference, stop-gained, utr-variant-5-prime
rs180177305 Pathogenic 37,424,964(+) GATCC(C/T)GGATG intron-variant, reference, missense, utr-variant-5-prime
rs180177308 Pathogenic 37,426,625(+) CGCCG(-/G)TTGCC intron-variant, reference, frameshift-variant, utr-variant-5-prime
rs180177309 Pathogenic 37,426,653(+) TGAAG(-/AAGT)AAGTG intron-variant, splice-donor-variant

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

Variant ID Type Subtype PubMed ID
nsv1125318 OTHER inversion 24896259

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

Human Gene Mutation Database (HGMD)
GRHPR
SNPedia medical, phenotypic, and genealogical associations of SNPs for
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
  • primary hyperoxaluria type 2
d-glycericacidemia
  • d-glycerate kinase deficiency
primary hyperoxaluria
  • hyperoxaluria, primary
nephrolithiasis
  • calculus of kidney and ureter
nephrocalcinosis
  • hypercalcemic nephropathy
- 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 22 64
  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 4 22 64
  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 22 46 64
  4. 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 4 22 64
  5. Evaluation of mutation screening as a first line test for the diagnosis of the primary hyperoxalurias. (PMID: 15327387) Rumsby G. … Coulter-Mackie M. (Kidney Int. 2004) 3 22 46 64

Products for GRHPR Gene

Sources for GRHPR Gene

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