Details for: HPD

Gene ID: 3242

Symbol: HPD

Ensembl ID: ENSG00000158104

Description: 4-hydroxyphenylpyruvate dioxygenase

Associated with

Cells (max top 100)

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

  • Cell Name: ON-bipolar cell (CL0000749)
    Fold Change: 3.98
    Marker Score: 11,597
  • Cell Name: OFF-bipolar cell (CL0000750)
    Fold Change: 3.64
    Marker Score: 10,783
  • Cell Name: retinal bipolar neuron (CL0000748)
    Fold Change: 3.58
    Marker Score: 30,248
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 3.38
    Marker Score: 9,640
  • Cell Name: retina horizontal cell (CL0000745)
    Fold Change: 2.52
    Marker Score: 2,414
  • Cell Name: retinal cone cell (CL0000573)
    Fold Change: 2.33
    Marker Score: 6,692
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 2.26
    Marker Score: 12,168
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 2.01
    Marker Score: 7,137
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 1.89
    Marker Score: 12,136
  • Cell Name: midzonal region hepatocyte (CL0019028)
    Fold Change: 1.87
    Marker Score: 8,073
  • Cell Name: mural cell (CL0008034)
    Fold Change: 1.48
    Marker Score: 170,059
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 1.44
    Marker Score: 4,713
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 1.44
    Marker Score: 841
  • Cell Name: epithelial cell of alveolus of lung (CL0010003)
    Fold Change: 1.26
    Marker Score: 567
  • Cell Name: endothelial cell of pericentral hepatic sinusoid (CL0019022)
    Fold Change: 1.14
    Marker Score: 1,224
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 1.12
    Marker Score: 2,117
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 1.04
    Marker Score: 796
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71,823
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48,047
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30,408
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.96
    Marker Score: 2,264
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.96
    Marker Score: 2,427
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.94
    Marker Score: 5,337
  • Cell Name: hepatic stellate cell (CL0000632)
    Fold Change: 0.92
    Marker Score: 348
  • Cell Name: inflammatory macrophage (CL0000863)
    Fold Change: 0.92
    Marker Score: 284
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2,739
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.91
    Marker Score: 1,856
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5,296
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: 0.86
    Marker Score: 588
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.83
    Marker Score: 12,937
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1,259
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.77
    Marker Score: 707
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.76
    Marker Score: 395
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.76
    Marker Score: 500
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.69
    Marker Score: 178
  • Cell Name: endothelial cell of periportal hepatic sinusoid (CL0019021)
    Fold Change: 0.62
    Marker Score: 171
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.62
    Marker Score: 199
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.61
    Marker Score: 178
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.58
    Marker Score: 350
  • Cell Name: germ cell (CL0000586)
    Fold Change: 0.57
    Marker Score: 1,001
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.56
    Marker Score: 444
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 0.54
    Marker Score: 564
  • Cell Name: Kupffer cell (CL0000091)
    Fold Change: 0.54
    Marker Score: 536
  • Cell Name: choroid plexus epithelial cell (CL0000706)
    Fold Change: 0.53
    Marker Score: 490
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.53
    Marker Score: 167
  • Cell Name: peritubular capillary endothelial cell (CL1001033)
    Fold Change: 0.53
    Marker Score: 123
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.5
    Marker Score: 678
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: 0.45
    Marker Score: 141
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 0.44
    Marker Score: 148
  • Cell Name: primordial germ cell (CL0000670)
    Fold Change: 0.38
    Marker Score: 479
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.37
    Marker Score: 453
  • Cell Name: pro-B cell (CL0000826)
    Fold Change: 0.37
    Marker Score: 360
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.37
    Marker Score: 176
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: 0.37
    Marker Score: 370
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.37
    Marker Score: 97
  • Cell Name: endothelial cell of hepatic sinusoid (CL1000398)
    Fold Change: 0.37
    Marker Score: 80
  • Cell Name: neuronal receptor cell (CL0000006)
    Fold Change: 0.32
    Marker Score: 140
  • Cell Name: mononuclear phagocyte (CL0000113)
    Fold Change: 0.31
    Marker Score: 312
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: 0.3
    Marker Score: 78
  • Cell Name: cholangiocyte (CL1000488)
    Fold Change: 0.3
    Marker Score: 111
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.28
    Marker Score: 117
  • Cell Name: kidney collecting duct principal cell (CL1001431)
    Fold Change: 0.26
    Marker Score: 651
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 0.26
    Marker Score: 163
  • Cell Name: epithelial cell of glomerular capsule (CL1000450)
    Fold Change: 0.24
    Marker Score: 61
  • Cell Name: kidney interstitial fibroblast (CL1000692)
    Fold Change: 0.24
    Marker Score: 458
  • Cell Name: alpha-beta T cell (CL0000789)
    Fold Change: 0.23
    Marker Score: 177
  • Cell Name: goblet cell (CL0000160)
    Fold Change: 0.23
    Marker Score: 1,545
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: 0.23
    Marker Score: 321
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: 0.22
    Marker Score: 236
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 0.21
    Marker Score: 126
  • Cell Name: renal principal cell (CL0005009)
    Fold Change: 0.21
    Marker Score: 160
  • Cell Name: leukocyte (CL0000738)
    Fold Change: 0.2
    Marker Score: 116
  • Cell Name: renal interstitial pericyte (CL1001318)
    Fold Change: 0.2
    Marker Score: 190
  • Cell Name: erythroblast (CL0000765)
    Fold Change: 0.2
    Marker Score: 122
  • Cell Name: kidney collecting duct intercalated cell (CL1001432)
    Fold Change: 0.19
    Marker Score: 315
  • Cell Name: melanocyte (CL0000148)
    Fold Change: 0.19
    Marker Score: 76
  • Cell Name: retinal pigment epithelial cell (CL0002586)
    Fold Change: 0.19
    Marker Score: 55
  • Cell Name: mucosal invariant T cell (CL0000940)
    Fold Change: 0.18
    Marker Score: 164
  • Cell Name: male germ cell (CL0000015)
    Fold Change: 0.18
    Marker Score: 53
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: 0.18
    Marker Score: 488
  • Cell Name: endothelial cell (CL0000115)
    Fold Change: 0.18
    Marker Score: 160
  • Cell Name: mesenchymal stem cell (CL0000134)
    Fold Change: 0.17
    Marker Score: 269
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.17
    Marker Score: 731
  • Cell Name: oligodendrocyte precursor cell (CL0002453)
    Fold Change: 0.17
    Marker Score: 213
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: 0.17
    Marker Score: 181
  • Cell Name: podocyte (CL0000653)
    Fold Change: 0.17
    Marker Score: 62
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.17
    Marker Score: 994
  • Cell Name: mast cell (CL0000097)
    Fold Change: 0.15
    Marker Score: 88
  • Cell Name: adventitial cell (CL0002503)
    Fold Change: 0.15
    Marker Score: 37
  • Cell Name: kidney loop of Henle thin descending limb epithelial cell (CL1001111)
    Fold Change: 0.15
    Marker Score: 157
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 0.14
    Marker Score: 76
  • Cell Name: parietal epithelial cell (CL1000452)
    Fold Change: 0.14
    Marker Score: 52
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 0.14
    Marker Score: 123
  • Cell Name: B cell (CL0000236)
    Fold Change: 0.14
    Marker Score: 135
  • Cell Name: promonocyte (CL0000559)
    Fold Change: 0.14
    Marker Score: 90
  • Cell Name: T cell (CL0000084)
    Fold Change: 0.14
    Marker Score: 234
  • Cell Name: endothelial cell of artery (CL1000413)
    Fold Change: 0.14
    Marker Score: 56
  • Cell Name: fibroblast of lung (CL0002553)
    Fold Change: 0.13
    Marker Score: 353
  • Cell Name: fibroblast (CL0000057)
    Fold Change: 0.13
    Marker Score: 130
  • Cell Name: mature NK T cell (CL0000814)
    Fold Change: 0.13
    Marker Score: 62

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 Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: 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 Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: 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 Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: 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: 2631948398

Symbol: HPPD_HUMAN

Name: 4-hydroxyphenylpyruvate dioxygenase

UniProtKB Accession Codes:

P32754 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 Genevisible 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 6 KEGG 1 MIM 5 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 NCBIfam 1 OpenTargets 1 Orphanet 2 OrthoDB 1 PANTHER 2 PDB 3 PDBsum 2 PIR 1 PIRSF 1 PRO 1 PROSITE 1 PROSITE-ProRule 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 UniProtKB 2 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: 44934
  • Checksum: 4314A16532C33A2F
  • Sequence:
    • MTTYSDKGAK PERGRFLHFH SVTFWVGNAK QAASFYCSKM 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.