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Aliases & Descriptionsfor HAO1 gene
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc
, and/or 7 Ensembl ,
8 miRBase )About This Section Aliases & Descriptions hydroxyacid oxidase (glycolate oxidase) 11 2 (S)-2-hydroxy-acid oxidase2 GOX1 2 3 MGC1422252 GOX12 3 5 hydroxyacid oxidase 12 Glycolate oxidase2 3 MGC1422272 HAOX12 3 EC 1.1.3.153
Export aliases for HAO1 gene to outside databases Previous GC identifers: GC20M007851 GC20M007858 GC20M007811
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Summariesfor HAO1 gene (According to Entrez Gene ,
Tocris Bioscience ,
Wikipedia's
Gene Wiki ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
About This Section Entrez Gene summary for HAO1 : This gene is one of three related genes that have 2-hydroxyacid oxidase activity yet differ in encoded protein amino acid sequence, tissue expression and substrate preference. Subcellular location of the encoded protein is the peroxisome. Specifically, this gene is expressed primarily in liver and pancreas and the encoded protein is most active on glycolate, a two-carbon substrate. The protein is also active on 2-hydroxy fatty acids. The transcript detected at high levels in pancreas may represent an alternatively spliced form or the use of a multiple near-consensus upstream polyadenylation site. (provided by RefSeq) UniProtKB/Swiss-Prot: HAOX1_HUMAN, Q9UJM8 Function : Has 2-hydroxyacid oxidase activity. Most active on the 2-carbon substrate glycolate, but is also active on2-hydroxy fatty acids, with high activity towards 2-hydroxy palmitate and 2-hydroxy octanoate
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Genomic Viewsfor HAO1 gene
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 37) ,
and/or miRBase ,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 60) ,
Regulatory elements and Epigenetics data according to
Qiagen and/or
SABiosciences )About This Section Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the HAO1 gene promoter: Sp1 POU2F1 CUTL1 MIF-1 LCR-F1 GATA-1 Sox9 Bach1 STAT5A RFX1 Other transcription factors Search SABiosciences Chromatin IP Primers for HAO1 Epigenetics: QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays
Genomic Location: Genomic View : UCSC Golden Path with GeneCards custom track Entrez Gene cytogenetic band: 20p12 Ensembl cytogenetic band: 20p12.3 HGNC cytogenetic band: 20p12 HAO1 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different) GeneLoc gene densities for chromosome 20 GeneLoc Exon Structure
GeneLoc location for GC20M007863: view genomic region
(about GC identifiers )
Start:
7,814,621 bp from pter
End:
7,921,121 bp from pter
Size:
106,501 bases
Orientation:
minus strand
RefSeq DNA sequence: NC_000020.10 NT_011387.8
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Proteinsfor HAO1 gene
(According to
1 UniProtKB ,
neXtProt ,
and/or Ensembl ,
Phosphorylation sites according to 2 Phosphosite ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
GenScript ,
Enzo Life Sciences ,
OriGene ,
Novus Biologicals ,
Sino Biological , and/or
ProSpec ,
Biochemical Assays by
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
OriGene ,
GenScript ,
Cell Signaling Technology ,
Enzo Life Sciences , and/or
Uscn ,
Ontologies according to Gene
Ontology Consortium 01 Dec 2010 and
Entrez Gene ,
Antibodies by
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
GenScript ,
Cell Signaling Technology ,
OriGene ,
Novus Biologicals , and/or
Epitomics )
About This Section UniProtKB/Swiss-Prot: HAOX1_HUMAN, Q9UJM8 (See
protein sequence )Recommended Name: Hydroxyacid oxidase 1 Size : 370 amino acids; 40924 Da
Cofactor : FMN
Subcellular location : Peroxisome
PDB structures from and Proteopedia : 2NZL (3D)
 2RDT (3D)
 2RDU (3D)
 2RDW (3D)
 2W0U (3D)
 
Secondary accessions : Q14CQ0 Q9UPZ0 Q9Y3I7Explore the universe of human proteins at neXtProt for HAO1: NX_Q9UJM8 Post-translational modifications:
View phosphorylation sites using PhosphoSite 2
REFSEQ proteins: NP_060015.1 ENSEMBL proteins: ENSP00000368066 Human Recombinant Proteins 2 Gene Ontology (GO) cellular component terms (GO ID links to tree view) :
About this table
HAO1 for ontologies About GeneDecksing Antibodies for HAO1: Assays for HAO1:
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Protein
Domains/ Familiesfor HAO1 gene (According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
About This Section
HAO1 for domains About GeneDecksing 4 InterPro domains/families :
Graphical View of Domain Structure for InterPro Entry Q9UJM8 ProtoNet protein and cluster: Q9UJM8
1 Blocks protein family : IPB000262 FMN-dependent alpha-hydroxy acid dehydrogenase UniProtKB/Swiss-Prot: HAOX1_HUMAN, Q9UJM8 Similarity : Belongs to the FMN-dependent alpha-hydroxy acid dehydrogenase familySimilarity : Contains 1 FMN hydroxy acid dehydrogenase domain
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Gene Functionfor HAO1 gene
(According to UniProtKB ,
IUBMB ,and/or
Genatlas , Animal models from MGI Dec 24 2010,
shRNA from
OriGene ,
Sigma-Aldrich ,
RNAi from
Millipore ,
siRNAs from
Sigma-Aldrich ,
OriGene ,
Qiagen ,
Super-pooled esiRNAs from Sigma-Aldrich ,
microRNA from Sigma-Aldrich ,
Qiagen ,
SABiosciences ,
Clones from Millipore ,
Sigma-Aldrich ,
OriGene ,
GenScript ,
Sino Biological ,
Cell Lines from GenScript ,
Ontologies according to Gene Ontology Consortium 01 Dec 2010 via
Entrez Gene .)
About This Section UniProtKB/Swiss-Prot: HAOX1_HUMAN, Q9UJM8 Function : Has 2-hydroxyacid oxidase activity. Most active on the 2-carbon substrate glycolate, but is also active on2-hydroxy fatty acids, with high activity towards 2-hydroxy palmitate and 2-hydroxy octanoate Catalytic activity : (S)-2-hydroxy acid + O(2) = 2-oxo acid + H(2)O(2)Biophysicochemical properties : Kinetic parameters: KM=141 uM for glycolate; KM=40 uM for 2-hydroxy octanoate; KM=2200uM for glyoxylate; Enzyme Number (IUBMB): EC 1.1.3.15
Genatlas biochemistry entry for HAO1 :hydroxyacid oxidase 1,glycolate oxidase 5 Gene Ontology (GO) molecular function terms (GO ID links to tree view) :
About this table
HAO1 for ontologies About GeneDecksing
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Pathways & Interactionsfor HAO1 gene
(Pathways according to
Millipore ,
Cell Signaling Technology ,
Sigma-Aldrich ,
KEGG
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
PCR Arrays from
SABiosciences ,
Proteins Network according to
SABiosciences ,
Sigma-Aldrich ,
Interactions according to 1 UniProtKB ,
2 MINT , and/or
3 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Dec 2010 via
Entrez Gene) .
About This Section
HAO1 for pathways About GeneDecksing 1 Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Pathway for HAO1 3 Kegg Pathways (Kegg details for HAO1) :UniProtKB/Swiss-Prot: HAOX1_HUMAN, Q9UJM8 Pathway : Organic acid metabolism; glycolate degradation; 3-phospho-D-glycerate from glycolate: step 1/4 SABiosciences Custom Pathway-Focused PCR Arrays for HAO1 Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Molecular Interaction Network for HAO1 Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for HAO1 4 Interacting proteins for HAO1 (ENSP00000368066 3 ) via UniProtKB, MINT, and/or STRING
About this table 5 Gene Ontology (GO) biological process terms (GO ID links to tree view) :
About this table
HAO1 for ontologies About GeneDecksing
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Drugs & Compoundsfor HAO1 gene (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
Sigma-Aldrich , Tocris Bioscience , and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB )
About This Section
HAO1 for compounds About GeneDecksing Browse Tocris compounds for HAO1 10/52 Novoseek chemical compound relationships for HAO1 gene (see all 52 )
Compound
-log (P-Val)
Hits
PubMed IDs for Articles with Shared Sentences (# sentences)
glucose
82.3
475
17365439 (5), 16870421 (3), 19505077 (3), 19269439 (3) (see all 99 )
nafion
82.2
9
16275055 (1), 15967398 (1), 19071561 (1), 16219381 (1) (see all 7 )
agcl
78.1
1
15649080 (1)
fadh2
77.4
8
15461503 (2), 12622383 (1), 15970532 (1), 15649080 (1)
poly(dimethyl diallyl ammonium chloride)
77.1
7
18180205 (2), 16430853 (1), 16207046 (1), 17314038 (1)
poly(1-vinylimidazole)
75.5
2
14516076 (1), 15794489 (1)
ferrocenemethanol
73.6
1
16471810 (1)
platinum
71.1
20
9491756 (1), 19112013 (1), 20388977 (1), 15284922 (1) (see all 13 )
ethylene glycol diglycidyl ether
70.9
2
7733469 (1)
ferrocene
70
19
19505077 (2), 8797376 (2), 12298004 (2), 11411531 (2) (see all 10 )
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Transcriptsfor HAO1 gene (GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 228 Homo sapiens; Dec 8 2010) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
transcript ids from Ensembl
with links to UCSC ,
non coding RNAs according to
RNAdb ,
ESTs according to GeneTide ,
exon structure from GeneLoc ,
alternative splicing isoforms according to ASD and/or
ECgene ,
RNAi Products from
Millipore ,
siRNAs from
Sigma-Aldrich ,
OriGene ,
Qiagen ,
Super-pooled esiRNAs from Sigma-Aldrich ,
shRNA from
Sigma-Aldrich ,
OriGene ,
microRNA from Sigma-Aldrich ,
Qiagen ,
SABiosciences ,
Tagged/untagged cDNA clones from
OriGene ,
Sigma-Aldrich ,
GenScript ,
Primers from
OriGene and/or
SABiosciences )About This Section REFSEQ mRNAs for HAO1 gene: NM_017545.2
Additional cDNA sequence: AB024079.1 AF231916.1 AF244134.1 AK289423.1 AK308963.1 AK313839.1 AL121739.1 BC113665.1 BC113667.1
2 DOTS entries : DT.105299 DT.99965022
24/28 AceView cDNA sequences (see all 28 ):
C20914 NM_017545 AB024079 CB161531 AI913732 AF244134 AL121739 BG656034 AW772047 AV682372 AV646933 AL449681 CB163751 BG568066 BX094967 AV647445 H70488 AF231916 H69642 BG656337 T72614 AL449669 T74667 T97636
highest scoring ESTs for HAO1 :AB024079 AF231916 AF244134 AI913732 AL121739 AL449668 AL449669 AL449681 T58830 T64673 Unigene Cluster for HAO1:
Hydroxyacid oxidase (glycolate oxidase) 1 Hs.193640 [show with all ESTs ] Unigene Representative Sequence: AL121739 GeneLoc Exon Structure 1 Ensembl transcript including schematic representation, and UCSC links where relevant : ENST00000378789 (uc002wmw.1 uc010gbu.2 )
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Expression for HAO1 gene
(Experimental results according to
1 GeneNote
and GNF BioGPS ,
probe sets-to-genes annotations according to
2 GeneAnnot ,
3 GeneTide ,
Sets of similar genes according to GeneDecks ,
Electronic Northern calculations according to data from
UniGene (Build 228 Homo sapiens),
SAGE tags according to
CGAP ,
plus additional links to
SOURCE , and/or
GNF
BioGPS , and/or
EXPOLDB , and/or
UniProtKB ,
Primers from
OriGene and/or
SABiosciences
)
About This Section HAO1 expression in normal and diseased human tissues 1 / 2 / 3
4 probe-sets matching HAO1 gene
Affymetrix probe-set
Array
GeneAnnot data
GeneNote data
GeneTide data
# genes
Sensitivity
Specificity
Correlation
Length
Gb_Accession
Consensus
Uniqueness
Score
Rank
35891_at2 , 3
U95-A
1
1.00
1.00
0.98
1.03
AB024079
1.00
1.00
1.00
1
60957_at2 , 3
U95-C
1
0.69
1.00
0.99
1.03
AI913732
0.80
1.00
0.91
1
220224_at2 , 3
U133-A
1
0.91
1.00
--
--
NM_017545
0.60
1.00
0.82
1
220224_at2
U133Plus2
1
0.91
1.00
--
--
--
--
--
--
--
About this table
HAO1 for expression About GeneDecksing Data from
Genenote  
(Publications) and GNF BioGPS About these images About these images CGAP SAGE TAG: TCTTTAAAAC SOURCE GeneReport for Unigene cluster: Hs.193640 UniProtKB/Swiss-Prot: HAOX1_HUMAN, Q9UJM8 Tissue specificity : Liver
SABiosciences Custom PCR Arrays for HAO1
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Orthologsfor HAO1 gene
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
and/or
5 MGI Dec 24 2010,
with possible further links to
Flybase
and/or
WormBase ,
Gene Trees according to Ensembl )
About This Section
Orthologs for HAO1 gene from 5/20 species (see all 20 )
About this table Species with no ortholog for HAO1 ENSEMBL Gene Tree for HAO1 (if available)
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Paralogsfor HAO1 gene (Paralogs according to 1 HomoloGene and 2 Ensembl , Pseudogenes according to 3 Pseudogene.org )About This Section Paralogs for HAO1 gene HAO2 2
HAO1 for paralogs About GeneDecksing
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Genomic Variantsfor HAO1 gene (SNPs according to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE , and
UniProtKB ,
Linkage Disequilibrium by HapMap ,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants , Resequencing Primers from Qiagen )
About This Section
Genomic Data Transcription Related Data Allele Frequencies SNP ID Valid Chr 20 pos Sequence Recs AA Chg Type More Recs Allele freq Pop Total sample More
About this table HapMap Linkage Disequilibrium images for HAO1 (up to first 250kb)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV) variations for HAO1: --
QIAGEN SeqTarget long-range PCR primers for resequencing HAO1
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Disorders & Mutationsfor HAO1 gene
(in which this Gene is Involved, According to
OMIM, UniProtKB ,
Novoseek , PharmGKB ,
Genatlas , GeneTests ,
Blood group antigen gene mutations by BGMUT ,
LSDB, HGMD, GAD ,
HuGE Navigator ,
and/or TGDB .)
About This Section
HAO1 for disorders About GeneDecksing
OMIM: 605023 1 Novoseek disease relationship for HAO1 gene
Disease
-log (P-Val)
Hits
PubMed IDs for Articles with Shared Sentences (# sentences)
hypoglycemia
0
1
17365439 (1)
About this table Human Genome Epidemiology (HuGE) Navigator: HAO1 (1 document)Export disorders and mutations for HAO1 gene to outside databases
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Medical Newsfor HAO1 gene (Possibly Related Articles in
Doctor's Guide )
About This Section --
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Publicationsfor HAO1 gene (in
PubMed .
Associations of this gene to articles via
1 Entrez Gene ,
2 UniProtKB/Swiss-Prot ,
3 HGNC ,
4 GAD ,
5 PharmGKB ,
6 UniProtKB/TrEMBL , and/or
7 Novoseek )
About This Section 10/220 PubMed articles for HAO1 gene, integrated from 7 sources (see all 220 ): (articles sorted by number of sources associating them with HAO1) Identification and characterization of HAOX1, HAOX2, and HAOX3, three human peroxisomal 2-hydroxy acid oxidases. (PubMed id 10777549) 1 , 2 , 7 Jones J.M.... Gould S.J. (2000) Structure of human glycolate oxidase in complex with the inhibitor 4-carboxy-5-[(4-chlorophenyl)sulfanyl]-1,2,3-thiadiazole. (PubMed id 20054120) 1 , 2 Bourhis J.M....Lindqvist Y. (2009) Active site and loop 4 movements within human glycolate oxidase: implications for substrate specificity and drug design. (PubMed id 18215067) 1 , 2 Murray M.S....Lowther W.T. (2008) The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334) 1 , 2 Gerhard D.S....Malek J. (2004) The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052) 1 , 2 Deloukas P....Rogers J. (2001) Identification and expression of a cDNA for human glycolate oxidase. (PubMed id 10978532) 1 , 2 Williams E.L.... Rumsby G. (2000) Molecular cloning of mouse glycolate oxidase. High evolutionary conservation and presence of an iron-responsive element-like sequence in the mRNA. (PubMed id 9891009) 1 , 3 Kohler S.A....Kuhn L.C. (1999) Genome-wide association study of childhood acute lymp hoblastic leukemia in Korea. (PubMed id 20189245) 1 Han S....Kang D. (2010) Purification and characterization of recombinant human liver glycolate oxidase. (PubMed id 17669354) 1 Vignaud C....Lederer F. (2007) Primary hyperoxaluria: from gene defects to designer drugs? (PubMed id 15956068) 1 Danpure C.J. (2005)
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External Searches for HAO1 gene
(in PubMed ,
OMIM , and NCBI Bookshelf ) About This Section
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Genome Databases showing HAO1 gene
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
Kegg ,
and/or
H-InvDB )
About This Section
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Other Databases showing HAO1 gene
(According to HUGE )
About This Section --
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Specialized Databases showing HAO1 gene (According to ATLAS , HORDE , IMGT , MTDB, LEIDEN , UniProtKB/Swiss-Prot , and/or UniProtKB/TrEMBL ,Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot )About This Section
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About This Section Patent Information for HAO1 gene: Search GeneIP for patents involving HAO1 GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Productsfor HAO1 gene (Antibodies, recombinant proteins, and assays by Millipore , Sigma-Aldrich , R&D Systems , Qiagen , GenScript , Cell Signaling Technology , SABiosciences , Novus Biologicals , Epitomics , ProSpec , Uscn , Clones available from Millipore , Sigma-Aldrich , OriGene , GenScript , Sino Biological , PCR Arrays from SABiosciences , Drugs and/or compounds by Sigma-Aldrich , Tocris Bioscience , and/or
Enzo Life Sciences )About This Section
Search Tocris compounds for HAO1
ELISAs and CLIAs for HAO1
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Databases for HAO1
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