Details for: HPD

Gene ID: 3242

Symbol: HPD

Ensembl ID: ENSG00000158104

Description: 4-hydroxyphenylpyruvate dioxygenase

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 11.6877
    Cell Significance Index: 196.5800
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 4.9878
    Cell Significance Index: 84.0200
  • Cell Name: hepatic pit cell (CL2000054)
    Fold Change: 1.2841
    Cell Significance Index: 3.4400
  • Cell Name: midzonal region hepatocyte (CL0019028)
    Fold Change: 1.1487
    Cell Significance Index: 6.6200
  • Cell Name: intrahepatic cholangiocyte (CL0002538)
    Fold Change: 1.0727
    Cell Significance Index: 4.0400
  • Cell Name: liver dendritic cell (CL2000055)
    Fold Change: 0.7240
    Cell Significance Index: 1.9100
  • Cell Name: columnar/cuboidal epithelial cell (CL0000075)
    Fold Change: 0.7032
    Cell Significance Index: 2.6900
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 0.6502
    Cell Significance Index: 94.5100
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.6073
    Cell Significance Index: 120.5200
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.4963
    Cell Significance Index: 7.2100
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 0.4878
    Cell Significance Index: 7.2000
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: 0.4868
    Cell Significance Index: 12.1400
  • Cell Name: cholangiocyte (CL1000488)
    Fold Change: 0.4095
    Cell Significance Index: 4.0400
  • Cell Name: glomerular capillary endothelial cell (CL1001005)
    Fold Change: 0.4078
    Cell Significance Index: 1.5200
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: 0.3376
    Cell Significance Index: 4.8400
  • Cell Name: endothelial cell of periportal hepatic sinusoid (CL0019021)
    Fold Change: 0.2903
    Cell Significance Index: 1.0100
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: 0.2775
    Cell Significance Index: 21.9800
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.2305
    Cell Significance Index: 3.9500
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.1320
    Cell Significance Index: 179.5400
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.1183
    Cell Significance Index: 3.1700
  • Cell Name: endothelial cell of pericentral hepatic sinusoid (CL0019022)
    Fold Change: 0.1026
    Cell Significance Index: 0.8100
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0726
    Cell Significance Index: 46.1400
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.0526
    Cell Significance Index: 9.4800
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 0.0458
    Cell Significance Index: 0.3500
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0324
    Cell Significance Index: 59.6700
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0241
    Cell Significance Index: 37.0600
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.0202
    Cell Significance Index: 4.0600
  • Cell Name: endothelial cell of hepatic sinusoid (CL1000398)
    Fold Change: 0.0126
    Cell Significance Index: 0.1200
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: 0.0110
    Cell Significance Index: 8.0400
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0110
    Cell Significance Index: 20.6600
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.0090
    Cell Significance Index: 3.2200
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 0.0040
    Cell Significance Index: 0.4600
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.0040
    Cell Significance Index: 0.6800
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.0021
    Cell Significance Index: 0.1600
  • Cell Name: suprabasal keratinocyte (CL4033013)
    Fold Change: -0.0006
    Cell Significance Index: -0.0100
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0013
    Cell Significance Index: -0.6000
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0021
    Cell Significance Index: -0.5900
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0034
    Cell Significance Index: -2.5400
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0038
    Cell Significance Index: -2.8800
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0039
    Cell Significance Index: -2.1100
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0047
    Cell Significance Index: -2.6700
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0048
    Cell Significance Index: -3.0200
  • Cell Name: hepatic stellate cell (CL0000632)
    Fold Change: -0.0099
    Cell Significance Index: -0.1000
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0107
    Cell Significance Index: -1.0900
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0112
    Cell Significance Index: -1.3800
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: -0.0133
    Cell Significance Index: -0.1900
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0137
    Cell Significance Index: -2.8900
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0139
    Cell Significance Index: -0.3700
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.0146
    Cell Significance Index: -0.9200
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0159
    Cell Significance Index: -2.1800
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.0161
    Cell Significance Index: -0.4500
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.0164
    Cell Significance Index: -1.0100
  • Cell Name: Kupffer cell (CL0000091)
    Fold Change: -0.0175
    Cell Significance Index: -0.1600
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0227
    Cell Significance Index: -2.9300
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.0237
    Cell Significance Index: -0.7600
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0248
    Cell Significance Index: -2.5800
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0257
    Cell Significance Index: -1.7300
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0269
    Cell Significance Index: -3.1300
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: -0.0277
    Cell Significance Index: -0.3300
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.0312
    Cell Significance Index: -1.3800
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.0362
    Cell Significance Index: -2.7000
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0364
    Cell Significance Index: -2.0500
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.0382
    Cell Significance Index: -1.2500
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.0389
    Cell Significance Index: -0.7600
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.0391
    Cell Significance Index: -1.4800
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.0414
    Cell Significance Index: -0.9000
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.0433
    Cell Significance Index: -0.9200
  • Cell Name: retinal pigment epithelial cell (CL0002586)
    Fold Change: -0.0446
    Cell Significance Index: -0.4800
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.0452
    Cell Significance Index: -2.3500
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0462
    Cell Significance Index: -2.1700
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: -0.0471
    Cell Significance Index: -0.6700
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: -0.0482
    Cell Significance Index: -1.1800
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.0497
    Cell Significance Index: -1.2400
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.0517
    Cell Significance Index: -1.8100
  • Cell Name: mature B cell (CL0000785)
    Fold Change: -0.0568
    Cell Significance Index: -0.3700
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.0577
    Cell Significance Index: -3.0300
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.0634
    Cell Significance Index: -3.3000
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.0640
    Cell Significance Index: -2.9000
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -0.0663
    Cell Significance Index: -1.9100
  • Cell Name: primordial germ cell (CL0000670)
    Fold Change: -0.0680
    Cell Significance Index: -0.4200
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.0682
    Cell Significance Index: -1.3700
  • Cell Name: alpha-beta T cell (CL0000789)
    Fold Change: -0.0693
    Cell Significance Index: -0.5900
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.0704
    Cell Significance Index: -2.0100
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.0714
    Cell Significance Index: -3.3300
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.0718
    Cell Significance Index: -1.4900
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: -0.0727
    Cell Significance Index: -2.3000
  • Cell Name: kidney proximal convoluted tubule epithelial cell (CL1000838)
    Fold Change: -0.0735
    Cell Significance Index: -0.6200
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.0747
    Cell Significance Index: -1.9200
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.0790
    Cell Significance Index: -1.7300
  • Cell Name: primitive red blood cell (CL0002355)
    Fold Change: -0.0813
    Cell Significance Index: -0.9200
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: -0.0820
    Cell Significance Index: -1.2100
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: -0.0839
    Cell Significance Index: -3.6500
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: -0.0842
    Cell Significance Index: -0.7800
  • Cell Name: myeloid lineage restricted progenitor cell (CL0000839)
    Fold Change: -0.0848
    Cell Significance Index: -1.1900
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: -0.0849
    Cell Significance Index: -0.7700
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.0860
    Cell Significance Index: -1.7000
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.0864
    Cell Significance Index: -3.1700
  • Cell Name: germ cell (CL0000586)
    Fold Change: -0.0867
    Cell Significance Index: -0.6600
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.0871
    Cell Significance Index: -3.0600
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.0910
    Cell Significance Index: -2.6800

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics** HPD is a dioxygenase enzyme that belongs to the family of non-heme iron-containing enzymes. It is a homodimeric protein, consisting of two identical subunits that are connected by a disulfide bridge. The enzyme has a molecular mass of approximately 62 kDa and is primarily localized in the cytosol and endoplasmic reticulum membrane. HPD is a metal ion-dependent enzyme that requires iron ions for its catalytic activity. The enzyme is also capable of binding metal ions, such as copper and zinc, which are essential for its function. **Pathways and Functions** HPD plays a central role in the catabolic pathways of phenylalanine and tyrosine, which are essential amino acids involved in various physiological processes. The HPD-mediated degradation of these amino acids is crucial for the maintenance of proper amino acid homeostasis and the prevention of amino acid toxicity. In addition to its role in amino acid catabolism, HPD is also involved in the regulation of various cellular processes, including: 1. **Metabolism of amino acids and derivatives**: HPD is involved in the degradation of phenylalanine and tyrosine, which are essential amino acids that play critical roles in various physiological processes. 2. **Metal ion binding**: HPD is capable of binding metal ions, such as copper and zinc, which are essential for its catalytic activity. 3. **Protein homodimerization activity**: HPD is a homodimeric protein that consists of two identical subunits connected by a disulfide bridge. 4. **Cytosol and endoplasmic reticulum membrane localization**: HPD is primarily localized in the cytosol and endoplasmic reticulum membrane, where it is involved in the regulation of various cellular processes. **Clinical Significance** Dysregulation of HPD activity has been implicated in various human diseases, including: 1. **Phenylketonuria (PKU)**: PKU is a genetic disorder caused by mutations in the HPD gene, leading to impaired phenylalanine degradation and accumulation of toxic metabolites. 2. **Tyrosinemia type II**: Tyrosinemia type II is a genetic disorder caused by mutations in the HPD gene, leading to impaired tyrosine degradation and accumulation of toxic metabolites. 3. **Cancer**: Aberrant expression of HPD has been implicated in various types of cancer, including colorectal, breast, and lung cancer. 4. **Neurological disorders**: HPD has been implicated in the regulation of various neurological disorders, including Parkinson's disease and Alzheimer's disease. In conclusion, the HPD gene is a crucial enzyme involved in the catabolic pathways of phenylalanine and tyrosine. Its dysregulation has been implicated in various human diseases, highlighting the importance of this enzyme in maintaining proper amino acid homeostasis and preventing amino acid toxicity.

Genular Protein ID: 1738342095

Symbol: HPPD_HUMAN

Name: 4-hydroxyphenylpyruvate dioxygenase

UniProtKB Accession Codes:

P32754 A0A0B4J1R4 A8K461 B3KQ63 Q13234

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BindingDB 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CDD 2 CTD 1 ChEBI 8 ChEMBL 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 2 DrugCentral 1 EC 1 EMBL 9 Ensembl 1 EvolutionaryTrace 1 ExpressionAtlas 1 GO 9 Gene3D 1 GeneCards 1 GeneTree 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 6 KEGG 1 MANE-Select 1 MIM 5 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 NCBIfam 1 OMA 1 OpenTargets 1 Orphanet 2 OrthoDB 1 PANTHER 2 PDB 4 PDBsum 4 PIR 1 PIRSF 1 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 Pumba 1 RNAct 1 Reactome 1 RefSeq 2 Rhea 2 SIGNOR 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 UCSC 1 UniPathway 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 7851880

Title: Structure of the human 4-hydroxyphenylpyruvic acid dioxygenase gene (HPD).

PubMed ID: 7851880

DOI: 10.1006/geno.1994.1540

PubMed ID: 8521727

Title: Regional assignment of the human 4-hydroxyphenylpyruvate dioxygenase gene (HPD) to 12q24-->qter by fluorescence in situ hybridization.

PubMed ID: 8521727

DOI: 10.1159/000134142

PubMed ID: 9325050

Title: Human 4-hydroxyphenylpyruvate dioxygenase gene (HPD).

PubMed ID: 9325050

DOI: 10.1006/geno.1997.4887

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16541075

Title: The finished DNA sequence of human chromosome 12.

PubMed ID: 16541075

DOI: 10.1038/nature04569

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 1339442

Title: Primary structure deduced from complementary DNA sequence and expression in cultured cells of mammalian 4-hydroxyphenylpyruvic acid dioxygenase. Evidence that the enzyme is a homodimer of identical subunits homologous to rat liver-specific alloantigen F.

PubMed ID: 1339442

DOI: 10.1016/s0021-9258(18)35755-7

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 22814378

Title: N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.

PubMed ID: 22814378

DOI: 10.1073/pnas.1210303109

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 10942115

Title: Mutations in the 4-hydroxyphenylpyruvate dioxygenase gene (HPD) in patients with tyrosinemia type III.

PubMed ID: 10942115

DOI: 10.1007/s004390000307

PubMed ID: 11073718

Title: Mutations in the 4-hydroxyphenylpyruvic acid dioxygenase gene are responsible for tyrosinemia type III and hawkinsinuria.

PubMed ID: 11073718

DOI: 10.1006/mgme.2000.3085

Sequence Information:

  • Length: 393
  • Mass: 44964
  • Checksum: 5B75BBCF9C788E3E
  • Sequence:
    • MTTYSDKGAK PERGRFLHFH SVTFWVGNAK QATSFYCSKM GFEPLAYRGL ETGSREVVSH 
VIKQGKIVFV LSSALNPWNK EMGDHLVKHG DGVKDIAFEV EDCDYIVQKA RERGAKIMRE 
PWVEQDKFGK VKFAVLQTYG DTTHTLVEKM NYIGQFLPGY EAPAFMDPLL PKLPKCSLEM 
IDHIVGNQPD QEMVSASEWY LKNLQFHRFW SVDDTQVHTE YSSLRSIVVA NYEESIKMPI 
NEPAPGKKKS QIQEYVDYNG GAGVQHIALK TEDIITAIRH LRERGLEFLS VPSTYYKQLR 
EKLKTAKIKV KENIDALEEL KILVDYDEKG YLLQIFTKPV QDRPTLFLEV IQRHNHQGFG 
AGNFNSLFKA FEEEQNLRGN LTNMETNGVV PGM

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.