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Q9UBQ7 (GRHPR_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified March 19, 2014. Version 128. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Glyoxylate reductase/hydroxypyruvate reductase

EC=1.1.1.79
EC=1.1.1.81
Gene names
Name:GRHPR
Synonyms:GLXR
ORF Names:MSTP035
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length328 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

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.

Catalytic activity

Glycolate + NADP+ = glyoxylate + NADPH.

D-glycerate + NAD(P)+ = hydroxypyruvate + NAD(P)H.

Subunit structure

Homodimer. Ref.1 Ref.10

Tissue specificity

Ubiquitous. Most abundantly expressed in the liver. Ref.8

Involvement in disease

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.2

Sequence similarities

Belongs to the D-isomer specific 2-hydroxyacid dehydrogenase family.

Sequence caution

The sequence AAD54066.1 differs from that shown. Reason: Frameshift at positions 109 and 137.

The sequence AAG39286.1 differs from that shown. Reason: Frameshift at position 237.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 328328Glyoxylate reductase/hydroxypyruvate reductase
PRO_0000075944

Regions

Nucleotide binding162 – 1643NADP
Nucleotide binding185 – 1884NADP
Region83 – 842Substrate binding
Region293 – 2964Substrate binding

Sites

Active site2931Proton donor
Binding site2171NADP
Binding site2431NADP; via carbonyl oxygen
Binding site2451Substrate
Binding site2691Substrate
Binding site2951NADP; via amide nitrogen
Site2741Raises pKa of active site His

Natural variations

Natural variant1701R → Q.
Corresponds to variant rs12002324 [ dbSNP | Ensembl ].
VAR_032762

Secondary structure

.............................................................. 328
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
Q9UBQ7 [UniParc].

Last modified May 1, 2000. Version 1.
Checksum: 68A0E311AA4E5650

FASTA32835,668
        10         20         30         40         50         60 
MRPVRLMKVF VTRRIPAEGR VALARAADCE VEQWDSDEPI PAKELERGVA GAHGLLCLLS 

        70         80         90        100        110        120 
DHVDKRILDA AGANLKVIST MSVGIDHLAL DEIKKRGIRV GYTPDVLTDT TAELAVSLLL 

       130        140        150        160        170        180 
TTCRRLPEAI EEVKNGGWTS WKPLWLCGYG LTQSTVGIIG LGRIGQAIAR RLKPFGVQRF 

       190        200        210        220        230        240 
LYTGRQPRPE EAAEFQAEFV STPELAAQSD FIVVACSLTP ATEGLCNKDF FQKMKETAVF 

       250        260        270        280        290        300 
INISRGDVVN QDDLYQALAS GKIAAAGLDV TSPEPLPTNH PLLTLKNCVI LPHIGSATHR 

       310        320 
TRNTMSLLAA NNLLAGLRGE PMPSELKL 

« Hide

References

« Hide 'large scale' references
[1]"Identification and expression of a cDNA for human hydroxypyruvate/glyoxylate reductase."
Rumsby G., Cregeen D.P.
Biochim. Biophys. Acta 1446:383-388(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA], SUBUNIT.
Tissue: Liver.
[2]"The gene encoding hydroxypyruvate reductase (GRHPR) is mutated in patients with primary hyperoxaluria type II."
Cramer S.D., Ferree P.M., Lin K., Milliner D.S., Holmes R.P.
Hum. Mol. Genet. 8:2063-2069(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA], INVOLVEMENT IN HP2.
Tissue: Liver.
[3]Liu B., Liu Y.Q., Wang X.Y., Zhao B., Sheng H., Zhao X.W., Liu S., Xu Y.Y., Ye J., Song L., Gao Y., Zhang C.L., Zhang J., Wei Y.J., Cao H.Q., Zhao Y., Liu L.S., Ding J.F. expand/collapse author list , Gao R.L., Wu Q.Y., Qiang B.Q., Yuan J.G., Liew C.C., Zhao M.S., Hui R.T.
Submitted (DEC-1998) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Aorta.
[4]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Testis.
[5]"DNA sequence and analysis of human chromosome 9."
Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L. expand/collapse author list , Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M., Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., Dunham I.
Nature 429:369-374(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]Mural R.J., Istrail S., Sutton G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[7]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Kidney.
[8]"Cloning and characterization of a putative human D-2-hydroxyacid dehydrogenase in chromosome 9q."
Huang T., Yang W., Pereira A.C., Craigen W.J., Shih V.E.
Biochem. Biophys. Res. Commun. 268:298-301(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 45-328, TISSUE SPECIFICITY.
[9]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[10]"Structural basis of substrate specificity in human glyoxylate reductase/hydroxypyruvate reductase."
Booth M.P.S., Conners R., Rumsby G., Brady R.L.
J. Mol. Biol. 360:178-189(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: X-RAY CRYSTALLOGRAPHY (2.2 ANGSTROMS) IN COMPLEX WITH NADP AND SUBSTRATE, SUBUNIT.
[11]"Crystal structure of a glyoxylate/hydroxypyruvate reductase from Homo sapiens."
Center for eukaryotic structural genomics (CESG)
Submitted (FEB-2009) to the PDB data bank
Cited for: X-RAY CRYSTALLOGRAPHY (2.45 ANGSTROMS) OF 2-328.
+Additional computationally mapped references.

Web resources

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF134895 mRNA. Translation: AAF00111.1.
AF146018 mRNA. Translation: AAD45886.1.
AF146689 Genomic DNA. Translation: AAD46517.1.
AF113215 mRNA. Translation: AAG39286.1. Frameshift.
AK315690 mRNA. Translation: BAG38053.1.
AL158155 Genomic DNA. Translation: CAI13848.1.
CH471071 Genomic DNA. Translation: EAW58284.1.
BC000605 mRNA. Translation: AAH00605.1.
AF113251 mRNA. Translation: AAD54066.1. Frameshift.
PIRJC7190.
RefSeqNP_036335.1. NM_012203.1.
UniGeneHs.155742.

3D structure databases

PDBe
RCSB PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
2GCGX-ray2.20A/B/C/D1-328[»]
2H1SX-ray2.45A/B/C/D2-328[»]
2Q50X-ray2.45A/B/C/D2-328[»]
2WWRX-ray2.82A/B/C/D1-328[»]
ProteinModelPortalQ9UBQ7.
SMRQ9UBQ7. Positions 5-328.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid114781. 14 interactions.
IntActQ9UBQ7. 5 interactions.
MINTMINT-5005010.
STRING9606.ENSP00000313432.

PTM databases

PhosphoSiteQ9UBQ7.

Polymorphism databases

DMDM47116943.

2D gel databases

REPRODUCTION-2DPAGEIPI00037448.
UCD-2DPAGEQ9UBQ7.

Proteomic databases

PaxDbQ9UBQ7.
PRIDEQ9UBQ7.

Protocols and materials databases

DNASU9380.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000318158; ENSP00000313432; ENSG00000137106.
GeneID9380.
KEGGhsa:9380.
UCSCuc003zzt.1. human.

Organism-specific databases

CTD9380.
GeneCardsGC09P037412.
HGNCHGNC:4570. GRHPR.
HPAHPA022971.
MIM260000. phenotype.
604296. gene.
neXtProtNX_Q9UBQ7.
Orphanet93599. Primary hyperoxaluria type 2.
PharmGKBPA28965.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG1052.
HOVERGENHBG051838.
KOK00049.
OMAERSMKPS.
PhylomeDBQ9UBQ7.
TreeFamTF324791.

Enzyme and pathway databases

ReactomeREACT_111217. Metabolism.
SABIO-RKQ9UBQ7.

Gene expression databases

ArrayExpressQ9UBQ7.
BgeeQ9UBQ7.
CleanExHS_GRHPR.
GenevestigatorQ9UBQ7.

Family and domain databases

Gene3D3.40.50.720. 2 hits.
InterProIPR006139. D-isomer_2_OHA_DH_cat_dom.
IPR006140. D-isomer_2_OHA_DH_NAD-bd.
IPR016040. NAD(P)-bd_dom.
[Graphical view]
PfamPF00389. 2-Hacid_dh. 1 hit.
PF02826. 2-Hacid_dh_C. 1 hit.
[Graphical view]
PROSITEPS00671. D_2_HYDROXYACID_DH_3. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSGRHPR. human.
EvolutionaryTraceQ9UBQ7.
GeneWikiGRHPR.
GenomeRNAi9380.
NextBio35148.
PROQ9UBQ7.
SOURCESearch...

Entry information

Entry nameGRHPR_HUMAN
AccessionPrimary (citable) accession number: Q9UBQ7
Secondary accession number(s): Q5T945, Q9H3E9, Q9UKX1
Entry history
Integrated into UniProtKB/Swiss-Prot: May 10, 2004
Last sequence update: May 1, 2000
Last modified: March 19, 2014
This is version 128 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 9

Human chromosome 9: entries, gene names and cross-references to MIM