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

Summary

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
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

Genomic context

Location:: 9p13.2

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
109	current	GRCh38.p12 (GCF_000001405.38)	9	NC_000009.12 (37422435..37438952)
105	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (37422693..37436990)

Chromosome 9 - NC_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

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.
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.
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.
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.
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.
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 BioSystems

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Glycine, serine and threonine metabolism, organism-specific biosystem (from KEGG)
Glycine, serine and threonine metabolism, organism-specific biosystemSerine is derived from 3-phospho-D-glycerate, an intermediate of glycolysis [MD:M00020], and glycine is derived from serine. Threonine is an essential amino acid, which animals cannot synthesize. In ...
Glycine, serine and threonine metabolism, conserved biosystem (from KEGG)
Glycine, serine and threonine metabolism, conserved biosystemSerine is derived from 3-phospho-D-glycerate, an intermediate of glycolysis [MD:M00020], and glycine is derived from serine. Threonine is an essential amino acid, which animals cannot synthesize. In ...
Glyoxylate and dicarboxylate metabolism, organism-specific biosystem (from KEGG)
Glyoxylate and dicarboxylate metabolism, organism-specific biosystem
Glyoxylate and dicarboxylate metabolism
Glyoxylate and dicarboxylate metabolism, conserved biosystem (from KEGG)
Glyoxylate and dicarboxylate metabolism, conserved biosystem
Glyoxylate and dicarboxylate metabolism
Glyoxylate metabolism and glycine degradation, organism-specific biosystem (from REACTOME)
Glyoxylate metabolism and glycine degradation, organism-specific biosystemGlyoxylate is generated in the course of glycine and hydroxyproline catabolism and can be converted to oxalate. In humans, this process takes place in the liver. Defects in two enzymes of glyoxylate ...
Metabolic pathways, organism-specific biosystem (from KEGG)
Metabolic pathways, organism-specific biosystem
Metabolic pathways
Metabolism, organism-specific biosystem (from REACTOME)
Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
Metabolism of amino acids and derivatives, organism-specific biosystem (from REACTOME)
Metabolism of amino acids and derivatives, organism-specific biosystemThis group of reactions is responsible for: 1) the breakdown of amino acids; 2) the synthesis of urea from ammonia and amino groups generated by amino acid breakdown; 3) the synthesis of the ten amin...
Pyruvate metabolism, organism-specific biosystem (from KEGG)
Pyruvate metabolism, organism-specific biosystem
Pyruvate metabolism
Pyruvate metabolism, conserved biosystem (from KEGG)
Pyruvate metabolism, conserved biosystem
Pyruvate metabolism

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-84462 (e-PCR)
- UniSTS:104755

RH45280 (e-PCR)
- UniSTS:6980

RH45369 (e-PCR)
- UniSTS:64839

D1S1423 (e-PCR)
- UniSTS:149619

RH35879 (e-PCR)
- UniSTS:1918

Homology

Homologs of the GRHPR gene: The GRHPR gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, fruit fly, mosquito, A.thaliana, rice, and frog.
Orthologs from Annotation Pipeline: 207 organisms have orthologs with human gene GRHPR
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
NAD binding	TAS Traceable Author Statement more info	PubMed
NADPH binding	IDA Inferred from Direct Assay more info	PubMed
carboxylic acid binding	IEA Inferred from Electronic Annotation more info
glycerate dehydrogenase activity	IDA Inferred from Direct Assay more info	PubMed
glyoxylate reductase (NADP) activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
glyoxylate reductase (NADP) activity	IDA Inferred from Direct Assay more info	PubMed
glyoxylate reductase (NADP) activity	TAS Traceable Author Statement more info
hydroxypyruvate reductase activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
hydroxypyruvate reductase activity	IDA Inferred from Direct Assay more info	PubMed
oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor	IBA Inferred from Biological aspect of Ancestor more info	PubMed
protein homodimerization activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
protein homodimerization activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
cellular nitrogen compound metabolic process	TAS Traceable Author Statement more info
dicarboxylic acid metabolic process	IEA Inferred from Electronic Annotation more info
excretion	IMP Inferred from Mutant Phenotype more info	PubMed
glyoxylate metabolic process	IDA Inferred from Direct Assay more info	PubMed
oxidation-reduction process	IDA Inferred from Direct Assay more info	PubMed
protein complex oligomerization	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
cytoplasm	IDA Inferred from Direct Assay more info
cytosol	IBA Inferred from Biological aspect of Ancestor more info	PubMed
extracellular exosome	HDA more info	PubMed
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

EC 1.1.1.79

EC 1.1.1.81

XP_005251688.1

EC 1.1.1.79

EC 1.1.1.81

XP_016870809.1

EC 1.1.1.79

EC 1.1.1.81

XP_016870810.1

EC 1.1.1.79

EC 1.1.1.81

XP_016870812.1

EC 1.1.1.79

EC 1.1.1.81

XP_024303484.1

EC 1.1.1.79

EC 1.1.1.81

XP_024303485.1

EC 1.1.1.79

EC 1.1.1.81

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

NG_008135.1 RefSeqGene

Range

5001..19280

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

Q9UBQ7

Related

ENSP00000313432.6, ENST00000318158.10

Conserved Domains (1) summary

cd05301
Location:7 → 319

GDH; D-glycerate dehydrogenase/hydroxypyruvate reductase (GDH)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

NC_000009.12 Reference GRCh38.p12 Primary Assembly

Range

37422435..37438952

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_024447716.1 → XP_024303484.1 glyoxylate reductase/hydroxypyruvate reductase isoform X1

Conserved Domains (1) summary

cd05301
Location:117 → 379

GDH; D-glycerate dehydrogenase/hydroxypyruvate reductase (GDH)
XM_024447717.1 → XP_024303485.1 glyoxylate reductase/hydroxypyruvate reductase isoform X2

Conserved Domains (1) summary

cd05301
Location:117 → 379

GDH; D-glycerate dehydrogenase/hydroxypyruvate reductase (GDH)
XM_017015323.2 → XP_016870812.1 glyoxylate reductase/hydroxypyruvate reductase isoform X6
XM_017015320.2 → XP_016870809.1 glyoxylate reductase/hydroxypyruvate reductase isoform X3
XM_017015321.2 → XP_016870810.1 glyoxylate reductase/hydroxypyruvate reductase isoform X4
XM_005251631.1 → 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