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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

HPDL Gene

protein-coding GIFtS: 40
GCID: GC01P045792

4-hydroxyphenylpyruvate dioxygenase-like

(Previous name: glyoxalase domain containing 1 )
(Previous symbol: GLOXD1)

Explore 1 disease affiliated with
HPDL via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
4-Hydroxyphenylpyruvate Dioxygenase-Like¹ ²		MGC15668¹
GLOXD1¹ ² ³		4-Hydroxyphenylpyruvate Dioxygenase-Like Protein²
4-HPPD-L¹ ²		RP4-534D1.1²
Glyoxalase Domain Containing 1¹ ²		EC 1.13.-.-³
Glyoxalase Domain-Containing Protein 1² ³

External Ids:	HGNC: 28242¹	Entrez Gene: 84842²	Ensembl: ENSG00000186603⁷	UniProtKB: Q96IR7³

Export aliases for HPDL gene to outside databases

Previous GC identifers: GC01P045568 GC01P043905

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

UniProtKB/Swiss-Prot: HPDL_HUMAN, Q96IR7

Function: May have dioxygenase activity (Potential)

(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000001.10 NC_018912.1 NT_032977.9

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the HPDL gene promoter:
USF1 AML1a USF2 USF-1:USF-2 AP-4 CBF-B FOXO4 USF-1 CP1A CBF(2)
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: HPDL promoter sequence

Search SABiosciences Chromatin IP Primers for HPDL

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HPDL

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1p34.1 Ensembl cytogenetic band: 1p34.1 HGNC cytogenetic band: 1p34.1

HPDL Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HPDL gene location

GeneLoc information about chromosome 1 GeneLoc Exon Structure

GeneLoc location for GC01P045792: view genomic region (about GC identifiers)

Start:	45,792,545 bp from pter	End:	45,794,347 bp from pter
Size:	1,803 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: HPDL_HUMAN, Q96IR7 (See protein sequence)

Recommended Name: 4-hydroxyphenylpyruvate dioxygenase-like protein

Size: 371 amino acids; 39386 Da

Cofactor: Binds 1 iron ion per subunit (By similarity)

Secondary accessions: B2R9B0

Explore the universe of human proteins at neXtProt for HPDL: NX_Q96IR7

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q96IR7

HPDL Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_116145.1

ENSEMBL proteins:

ENSP00000335060

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(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

HPDL for domains About GeneDecksing

1 InterPro domain/family:

IPR005956 4OHPhenylPyrv_dOase

Graphical View of Domain Structure for InterPro Entry Q96IR7

ProtoNet protein and cluster: Q96IR7

UniProtKB/Swiss-Prot: HPDL_HUMAN, Q96IR7

Similarity: Belongs to the 4HPPD family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: HPDL_HUMAN, Q96IR7

Function: May have dioxygenase activity (Potential)

Enzyme Number (IUBMB): EC 1.13.-.-¹

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Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003868	4-hydroxyphenylpyruvate dioxygenase activity	IEA	--
GO:0046872	metal ion binding	IEA	--

HPDL for ontologies About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for HPDL

Gene Ontology (GO): 1 biological process term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0009072	aromatic amino acid family metabolic process	IEA	--

HPDL for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for HPDL
Search CenterWatch for drugs/clinical trials and news about HPDL

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
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About This Section

REFSEQ mRNAs for HPDL gene:

NM_032756.2

Unigene Cluster for HPDL:

4-hydroxyphenylpyruvate dioxygenase-like

Hs.162717 [show with all ESTs]

Unigene Representative Sequence: NM_032756

1 Ensembl transcript including schematic representation, and UCSC links where relevant:

ENST00000334815(uc001cne.3)

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Additional cDNA sequence:

AK313714.1 BC007293.1

6 DOTS entries:

DT.40267573 DT.100744933 DT.121425749 DT.121425866 DT.100689832 DT.91751493

24/96 AceView cDNA sequences (see all 96):

AW590218 BM750322 BU146709 BG744112 BU538449 BQ069171 AI983119 BE731444

BQ881389 BM772992 AI653050 CR602636 AI650974 AI808699 BQ279073 BM820166

BC007293 BM848227 BE279281 CR620904 BM850078 NM_032756 BM759874 BM763009

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

HPDL expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GCCGCGCCCG

About this image

HPDL expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Trophoblast

Mural Trophectoderm

Mural Trophectoderm Cells

Selective marker (cell-identifying gene)

Extraembryonic Tissues

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See HPDL Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for HPDL

SOURCE GeneReport for Unigene cluster: Hs.162717

SABiosciences Custom PCR Arrays for HPDL

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In Situ
Assay Products:

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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of eukaryotes.

Orthologs for HPDL gene from 5/20 species (see all 20) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	HPDL⁶	Uncharacterized protein	47(a)	1 ↔ 1	8(21737637-21738776)
lizard (Anolis carolinensis)	Reptilia	HPDL⁶	--	41(a)	1 ↔ 1	4(110220558-110221712)
zebrafish (Danio rerio)	Actinopterygii	zgc:171978¹	zgc:171978	54.56(n) 44.69(a)		560428 NM_001109708.1 NP_001103178.1
thale cress (Arabidopsis thaliana)	eudicotyledons	PDS1⁶	4-hydroxyphenylpyruvate dioxygenase	20(a)	1 → many	1(2011885-2013545)
rice (Oryza sativa)	Liliopsida	--	glyoxalase family protein, putative, expressed	21(a)	1 → many	2(3677193-3679952)

ENSEMBL Gene Tree for HPDL (if available)
TreeFam Gene Tree for HPDL (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for HPDL gene

HPD²

HPDL for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 1 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs140722025^1,2		--	45790606(+)	`CTGCAA/GTGAGC`	1	--	us2k¹		0	--	--	--	--
rs184370230^1,2		--	45790658(+)	`GACCTC/TATCTC`	1	--	us2k¹		0	--	--	--	--
rs34315171^1,2	C	--	45790685(+)	`TTTTC-/TTTTTT`	1	--	us2k¹		2		NA CSA	4
rs189075704^1,2		--	45790768(+)	`ACCTCC/TGCCTC`	1	--	us2k¹		0	--	--	--	--
rs142402740^1,2	C,	--	45790979(+)	`TTTTA-/AAAT AAATA`	1	--	us2k¹		0	--	--	--	--
rs141511690^1,2	C,	--	45790987(+)	`TAAAT-/AAATAT`	1	--	us2k¹		0	--	--	--	--
rs56799758^1,2	C	--	45791021(+)	`TAATT-/AAAAAA`	1	--	us2k¹		1		NA	2
rs115855990^1,2		--	45791025(+)	`TAAAAA/GAAAAA`	1	--	us2k¹		0	--	--	--	--
rs115197184^1,2	F,	--	45791106(+)	`GAAGTA/GGGTAC`	1	--	us2k¹		1		WA	118
rs77047613^1,2	C	--	45791147(+)	`TAAGGC/GTCAGA`	1	--	us2k¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for HPDL (45792545 - 45794347 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for HPDL: --

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

HPDL for disorders About GeneDecksing

1 disease for HPDL: About MalaCards

atherosclerosis

Export disorders for HPDL gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for HPDL gene integrated from 9 sources:
(articles sorted by number of sources associating them with HPDL)

Utopia: connect your pdf to the dynamic
world of online information

The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)^{1, 2} Gregory S.G.... Bentley D.R. (2006)
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)
Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)^{1, 3} Strausberg R.L....Marra M.A. (2002)
A census of human soluble protein complexes. (PubMed id 22939629)¹ Havugimana P.C....Emili A. (2012)
Initial characterization of the human central proteome. (PubMed id 21269460)² Burkard T.R.... Colinge J. (2011)
Glyoxalase I and aldose reductase gene polymorphisms and susceptibility to carotid atherosclerosis in type 2 diabetes. (PubMed id 21294693)¹ Wu J.C....Peng Y.D. (2011)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)² Ota T.... Sugano S. (2004)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 84842	HGNC: 28242	AceView: MGC15668	Ensembl:ENSG00000186603	euGenes: HUgn84842
ECgene: HPDL	H-InvDB: HPDL

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for HPDL	Pharmacogenomics, SNPs, Pathways

Intellectual Property for HPDL gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for HPDL gene:
Search GeneIP for patents involving HPDL

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
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Advanced Cell Diagnostics
About This Section


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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HPDL

	SwitchGear 3'UTR luciferase reporter plasmids for HPDL
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ThermoFisher Antibodies for HPDL

Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HPDL

GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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Category			VWF (GIFTS: 73) von Willebrand factor
GIFtS Group

The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

The GeneCards Human Gene Database

Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

Hot genes Disease genes HPDL gene at Home site.

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HPDL Gene

4-hydroxyphenylpyruvate dioxygenase-like

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HPDL Gene

4-hydroxyphenylpyruvate dioxygenase-like

Aliasesfor HPDL gene

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Protein Domains /Familiesfor HPDL gene

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Genome Databases showing HPDL gene

Other Databases showing HPDL gene

Specialized Databases showing HPDL gene

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for HPDL gene

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for HPDL gene

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for HPDL gene

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for HPDL gene

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for HPDL gene

Function
for HPDL gene

Pathways & Interactions
for HPDL gene

Drugs & Compounds
for HPDL gene

Transcripts
for HPDL gene

Expression
for HPDL gene

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for HPDL gene

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for HPDL gene

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for HPDL gene

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for HPDL gene

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for HPDL gene

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for HPDL gene

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for HPDL gene