GRHPR
Glyoxylate reductase/hydroxypyruvate reductase
Also known as: GLXR, GRHPR_HUMAN, PH2
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9UBQ7
- Gene
- GRHPR
- Ensembl
- ENSG00000137106
- Chromosome
- 9
- Canonical length
- 328 aa
- Protein class
- Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Plasma proteins, Potential drug targets, Predicted intracellular proteins
- Subcellular location
- Nucleoplasm,Cytosol
- Quaternary structure
- Homodimer
OverviewNCBI 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]
Canonical amino-acid sequenceUniProt
328 residues, UniProt reviewed canonical sequence.
>Q9UBQ7|GRHPR
1 MRPVRLMKVF VTRRIPAEGR VALARAADCE VEQWDSDEPI PAKELERGVA GAHGLLCLLS
61 DHVDKRILDA AGANLKVIST MSVGIDHLAL DEIKKRGIRV GYTPDVLTDT TAELAVSLLL
121 TTCRRLPEAI EEVKNGGWTS WKPLWLCGYG LTQSTVGIIG LGRIGQAIAR RLKPFGVQRF
181 LYTGRQPRPE EAAEFQAEFV STPELAAQSD FIVVACSLTP ATEGLCNKDF FQKMKETAVF
241 INISRGDVVN QDDLYQALAS GKIAAAGLDV TSPEPLPTNH PLLTLKNCVI LPHIGSATHR
301 TRNTMSLLAA NNLLAGLRGE PMPSELKLLocalizationUniProt · AlphaFold · HPA
Whether an antibody against GRHPR can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.26
- Highest tissue expression
- 610 nTPM
Expression across tissuesHPA
Tissue
- liver: 610 nTPM
- skeletal muscle: 158 nTPM
- kidney: 146 nTPM
- adrenal gland: 141 nTPM
- tongue: 137 nTPM
- choroid plexus: 107 nTPM
Single-cell type
- hepatocytes: 1,048 nCPM
- esophageal suprabasal cells: 209 nCPM
- oocytes: 203 nCPM
- epididymal principal cells: 196 nCPM
- decidual stromal cells: 193 nCPM
- cytotrophoblasts: 185 nCPM
Immune cell
- myeloid DC: 70 nTPM
- intermediate monocyte: 67 nTPM
- naive B-cell: 66 nTPM
- classical monocyte: 65 nTPM
- NK-cell: 65 nTPM
- plasmacytoid DC: 64 nTPM
Brain region
- white matter: 94 nTPM
- cerebellum: 86 nTPM
- basal ganglia: 85 nTPM
- thalamus: 74 nTPM
- medulla oblongata: 72 nTPM
- hypothalamus: 70 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about GRHPR.
Disease | AllUniProt
Conditions GRHPR is implicated in, by any mechanism.
- Hyperoxaluria primary 2 (HP2) MIM:260000
Disease | GeneticClinVar
166 pathogenic / likely-pathogenic of 638 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Primary hyperoxaluria, type II
- Primary hyperoxaluria
- Nephrocalcinosis
- Kidney stone
- GRHPR-related disorder
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1.17
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.74
- DepMap mean gene effect
- -0.14
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
Molecular functions
- carboxylic acid binding
- NAD binding
- NADPH binding
- protein homodimerization activity
- glyoxylate reductase (NADPH) activity
- hydroxypyruvate reductase (NADH) activity
- hydroxypyruvate reductase (NADPH) activity
- hydroxypyruvate reductase [NAD(P)H] activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
- D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain
- D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain
- D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain conserved site
- NAD(P)-binding domain superfamily
- D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain
- D-isomer specific 2-hydroxyacid dehydrogenase, NAD binding domain
- D-isomer specific 2-hydroxyacid dehydrogenase
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads GRHPR as an antibody target. Whether an autoantibody or antibody against GRHPR could matter depends on whether native GRHPR is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
GRHPR is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label GRHPR as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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