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P32754

- HPPD_HUMAN

UniProt

P32754 - HPPD_HUMAN

Protein

4-hydroxyphenylpyruvate dioxygenase

Gene

HPD

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
    • BLAST
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    • History
      Entry version 151 (01 Oct 2014)
      Sequence version 2 (23 Jan 2007)
      Previous versions | rss
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    Functioni

    Key enzyme in the degradation of tyrosine.

    Catalytic activityi

    4-hydroxyphenylpyruvate + O2 = homogentisate + CO2.

    Cofactori

    Binds 1 iron ion per subunit.By similarity

    Pathwayi

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Metal bindingi183 – 1831IronCurated
    Metal bindingi266 – 2661IronCurated
    Metal bindingi349 – 3491IronCurated

    GO - Molecular functioni

    1. 4-hydroxyphenylpyruvate dioxygenase activity Source: UniProtKB
    2. metal ion binding Source: UniProtKB-KW

    GO - Biological processi

    1. cellular nitrogen compound metabolic process Source: Reactome
    2. L-phenylalanine catabolic process Source: Reactome
    3. small molecule metabolic process Source: Reactome
    4. tyrosine catabolic process Source: UniProtKB

    Keywords - Molecular functioni

    Dioxygenase, Oxidoreductase

    Keywords - Biological processi

    Phenylalanine catabolism, Tyrosine catabolism

    Keywords - Ligandi

    Iron, Metal-binding

    Enzyme and pathway databases

    BioCyciMetaCyc:HS08267-MONOMER.
    ReactomeiREACT_1786. Phenylalanine and tyrosine catabolism.
    UniPathwayiUPA00139; UER00362.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    4-hydroxyphenylpyruvate dioxygenase (EC:1.13.11.27)
    Alternative name(s):
    4-hydroxyphenylpyruvic acid oxidase
    Short name:
    4HPPD
    Short name:
    HPD
    Short name:
    HPPDase
    Gene namesi
    Name:HPD
    Synonyms:PPD
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 12

    Organism-specific databases

    HGNCiHGNC:5147. HPD.

    Subcellular locationi

    GO - Cellular componenti

    1. cytosol Source: Reactome
    2. extracellular vesicular exosome Source: UniProt

    Pathology & Biotechi

    Involvement in diseasei

    Tyrosinemia 3 (TYRSN3) [MIM:276710]: An inborn error of metabolism characterized by elevations of tyrosine in the blood and urine, seizures and mild mental retardation.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti160 – 1601Y → C in TYRSN3. 1 Publication
    Corresponds to variant rs28934278 [ dbSNP | Ensembl ].
    VAR_015445
    Natural varianti268 – 2681A → V in TYRSN3. 1 Publication
    VAR_015447
    Natural varianti335 – 3351I → M in TYRSN3. 1 Publication
    VAR_015448
    Hawkinsinuria (HAWK) [MIM:140350]: An inborn error of tyrosine metabolism characterized by failure to thrive, persistent metabolic acidosis, fine and sparse hair, and excretion of the unusual cyclic amino acid metabolite, hawkinsin, in the urine.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    Keywords - Diseasei

    Disease mutation, Mental retardation

    Organism-specific databases

    MIMi140350. phenotype.
    276710. phenotype.
    Orphaneti2118. Hawkinsinuria.
    69723. Tyrosinemia type 3.
    PharmGKBiPA29420.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Initiator methioninei1 – 11Removed1 Publication
    Chaini2 – 3933924-hydroxyphenylpyruvate dioxygenasePRO_0000088388Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei2 – 21N-acetylthreonine1 Publication
    Modified residuei132 – 1321N6-succinyllysineBy similarity
    Modified residuei211 – 2111PhosphoserineBy similarity
    Modified residuei226 – 2261PhosphoserineBy similarity
    Modified residuei250 – 2501PhosphoserineBy similarity

    Keywords - PTMi

    Acetylation, Phosphoprotein

    Proteomic databases

    MaxQBiP32754.
    PaxDbiP32754.
    PRIDEiP32754.

    PTM databases

    PhosphoSiteiP32754.

    Expressioni

    Gene expression databases

    BgeeiP32754.
    CleanExiHS_HPD.
    GenevestigatoriP32754.

    Organism-specific databases

    HPAiHPA038321.
    HPA038322.

    Interactioni

    Subunit structurei

    Homodimer.1 Publication

    Protein-protein interaction databases

    BioGridi109482. 5 interactions.
    IntActiP32754. 4 interactions.
    STRINGi9606.ENSP00000289004.

    Structurei

    Secondary structure

    1
    393
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Beta strandi15 – 2511
    Helixi29 – 4012
    Beta strandi43 – 497
    Helixi50 – 523
    Beta strandi56 – 649
    Beta strandi67 – 7610
    Helixi80 – 8910
    Beta strandi91 – 10111
    Helixi103 – 11311
    Beta strandi117 – 12610
    Beta strandi129 – 1379
    Beta strandi143 – 1519
    Beta strandi154 – 1563
    Helixi170 – 1723
    Beta strandi178 – 18710
    Helixi193 – 20412
    Beta strandi207 – 2126
    Turni214 – 2163
    Beta strandi223 – 2308
    Beta strandi237 – 2448
    Helixi251 – 2599
    Beta strandi261 – 27212
    Helixi274 – 28310
    Helixi293 – 30311
    Helixi314 – 3207
    Beta strandi323 – 3264
    Beta strandi331 – 3377
    Beta strandi340 – 3445
    Beta strandi347 – 3559
    Helixi361 – 37717

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    3ISQX-ray1.75A8-393[»]
    ProteinModelPortaliP32754.
    SMRiP32754. Positions 9-384.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiP32754.

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the 4HPPD family.Curated

    Phylogenomic databases

    eggNOGiCOG3185.
    HOGENOMiHOG000188687.
    HOVERGENiHBG005987.
    InParanoidiP32754.
    KOiK00457.
    OrthoDBiEOG75F4D7.
    PhylomeDBiP32754.

    Family and domain databases

    Gene3Di3.10.180.10. 2 hits.
    InterProiIPR005956. 4OHPhenylPyrv_dOase.
    IPR029068. Glyas_Bleomycin-R_OHBP_Dase.
    IPR004360. Glyas_Fos-R_dOase_dom.
    [Graphical view]
    PANTHERiPTHR11959. PTHR11959. 1 hit.
    PfamiPF00903. Glyoxalase. 1 hit.
    [Graphical view]
    PIRSFiPIRSF009283. HPP_dOase. 1 hit.
    SUPFAMiSSF54593. SSF54593. 1 hit.
    TIGRFAMsiTIGR01263. 4HPPD. 1 hit.

    Sequences (2)i

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: P32754-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MTTYSDKGAK PERGRFLHFH SVTFWVGNAK QAASFYCSKM GFEPLAYRGL    50
    ETGSREVVSH VIKQGKIVFV LSSALNPWNK EMGDHLVKHG DGVKDIAFEV 100
    EDCDYIVQKA RERGAKIMRE PWVEQDKFGK VKFAVLQTYG DTTHTLVEKM 150
    NYIGQFLPGY EAPAFMDPLL PKLPKCSLEM IDHIVGNQPD QEMVSASEWY 200
    LKNLQFHRFW SVDDTQVHTE YSSLRSIVVA NYEESIKMPI NEPAPGKKKS 250
    QIQEYVDYNG GAGVQHIALK TEDIITAIRH LRERGLEFLS VPSTYYKQLR 300
    EKLKTAKIKV KENIDALEEL KILVDYDEKG YLLQIFTKPV QDRPTLFLEV 350
    IQRHNHQGFG AGNFNSLFKA FEEEQNLRGN LTNMETNGVV PGM 393
    Length:393
    Mass (Da):44,934
    Last modified:January 23, 2007 - v2
    Checksum:i4314A16532C33A2F
    GO
    Isoform 2 (identifier: P32754-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-39: Missing.

    Show »
    Length:354
    Mass (Da):40,497
    Checksum:i45F3E405EBD38707
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti162 – 1621A → P in AAC73008. (PubMed:9325050)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti33 – 331A → T in two patients with hawkinsinuria. 2 Publications
    Corresponds to variant rs1154510 [ dbSNP | Ensembl ].
    VAR_015444
    Natural varianti113 – 1131R → Q.
    Corresponds to variant rs11833399 [ dbSNP | Ensembl ].
    VAR_048101
    Natural varianti160 – 1601Y → C in TYRSN3. 1 Publication
    Corresponds to variant rs28934278 [ dbSNP | Ensembl ].
    VAR_015445
    Natural varianti267 – 2671I → F.1 Publication
    VAR_015446
    Natural varianti268 – 2681A → V in TYRSN3. 1 Publication
    VAR_015447
    Natural varianti335 – 3351I → M in TYRSN3. 1 Publication
    VAR_015448
    Natural varianti340 – 3401V → L.1 Publication
    Corresponds to variant rs36023382 [ dbSNP | Ensembl ].
    VAR_015449

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 3939Missing in isoform 2. 1 PublicationVSP_044302Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    D31628 Genomic DNA. Translation: BAA06498.1.
    X72389 mRNA. Translation: CAA51082.1.
    U29895 Genomic DNA. Translation: AAC73008.1.
    AK057510 mRNA. Translation: BAG51925.1.
    AK290826 mRNA. Translation: BAF83515.1.
    AC069503 Genomic DNA. No translation available.
    AC079360 Genomic DNA. No translation available.
    CH471054 Genomic DNA. Translation: EAW98292.1.
    BC024287 mRNA. Translation: AAH24287.1.
    CCDSiCCDS53839.1. [P32754-2]
    CCDS9224.1. [P32754-1]
    PIRiS32458.
    RefSeqiNP_001165464.1. NM_001171993.1. [P32754-2]
    NP_002141.1. NM_002150.2. [P32754-1]
    UniGeneiHs.2899.

    Genome annotation databases

    EnsembliENST00000543163; ENSP00000441677; ENSG00000158104. [P32754-2]
    GeneIDi3242.
    KEGGihsa:3242.
    UCSCiuc001ubj.3. human. [P32754-1]

    Polymorphism databases

    DMDMi417144.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    D31628 Genomic DNA. Translation: BAA06498.1 .
    X72389 mRNA. Translation: CAA51082.1 .
    U29895 Genomic DNA. Translation: AAC73008.1 .
    AK057510 mRNA. Translation: BAG51925.1 .
    AK290826 mRNA. Translation: BAF83515.1 .
    AC069503 Genomic DNA. No translation available.
    AC079360 Genomic DNA. No translation available.
    CH471054 Genomic DNA. Translation: EAW98292.1 .
    BC024287 mRNA. Translation: AAH24287.1 .
    CCDSi CCDS53839.1. [P32754-2 ]
    CCDS9224.1. [P32754-1 ]
    PIRi S32458.
    RefSeqi NP_001165464.1. NM_001171993.1. [P32754-2 ]
    NP_002141.1. NM_002150.2. [P32754-1 ]
    UniGenei Hs.2899.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    3ISQ X-ray 1.75 A 8-393 [» ]
    ProteinModelPortali P32754.
    SMRi P32754. Positions 9-384.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 109482. 5 interactions.
    IntActi P32754. 4 interactions.
    STRINGi 9606.ENSP00000289004.

    Chemistry

    ChEMBLi CHEMBL1861.
    DrugBanki DB00348. Nitisinone.

    PTM databases

    PhosphoSitei P32754.

    Polymorphism databases

    DMDMi 417144.

    Proteomic databases

    MaxQBi P32754.
    PaxDbi P32754.
    PRIDEi P32754.

    Protocols and materials databases

    DNASUi 3242.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000543163 ; ENSP00000441677 ; ENSG00000158104 . [P32754-2 ]
    GeneIDi 3242.
    KEGGi hsa:3242.
    UCSCi uc001ubj.3. human. [P32754-1 ]

    Organism-specific databases

    CTDi 3242.
    GeneCardsi GC12M122277.
    HGNCi HGNC:5147. HPD.
    HPAi HPA038321.
    HPA038322.
    MIMi 140350. phenotype.
    276710. phenotype.
    609695. gene.
    neXtProti NX_P32754.
    Orphaneti 2118. Hawkinsinuria.
    69723. Tyrosinemia type 3.
    PharmGKBi PA29420.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG3185.
    HOGENOMi HOG000188687.
    HOVERGENi HBG005987.
    InParanoidi P32754.
    KOi K00457.
    OrthoDBi EOG75F4D7.
    PhylomeDBi P32754.

    Enzyme and pathway databases

    UniPathwayi UPA00139 ; UER00362 .
    BioCyci MetaCyc:HS08267-MONOMER.
    Reactomei REACT_1786. Phenylalanine and tyrosine catabolism.

    Miscellaneous databases

    EvolutionaryTracei P32754.
    GenomeRNAii 3242.
    NextBioi 12905.
    PROi P32754.
    SOURCEi Search...

    Gene expression databases

    Bgeei P32754.
    CleanExi HS_HPD.
    Genevestigatori P32754.

    Family and domain databases

    Gene3Di 3.10.180.10. 2 hits.
    InterProi IPR005956. 4OHPhenylPyrv_dOase.
    IPR029068. Glyas_Bleomycin-R_OHBP_Dase.
    IPR004360. Glyas_Fos-R_dOase_dom.
    [Graphical view ]
    PANTHERi PTHR11959. PTHR11959. 1 hit.
    Pfami PF00903. Glyoxalase. 1 hit.
    [Graphical view ]
    PIRSFi PIRSF009283. HPP_dOase. 1 hit.
    SUPFAMi SSF54593. SSF54593. 1 hit.
    TIGRFAMsi TIGR01263. 4HPPD. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. "Structure of the human 4-hydroxyphenylpyruvic acid dioxygenase gene (HPD)."
      Awata H., Endo F., Matsuda I.
      Genomics 23:534-539(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1).
    2. "Regional assignment of the human 4-hydroxyphenylpyruvate dioxygenase gene (HPD) to 12q24-->qter by fluorescence in situ hybridization."
      Stenman G., Roijer E., Rueetschi U., Dellsen A., Rymo L., Lindstedt S.
      Cytogenet. Cell Genet. 71:374-376(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    3. "Human 4-hydroxyphenylpyruvate dioxygenase gene (HPD)."
      Ruetschi U., Rymo L., Lindstedt S.
      Genomics 44:292-299(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1).
    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.
      , 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] (ISOFORMS 1 AND 2).
      Tissue: Liver and Testis.
    5. "The finished DNA sequence of human chromosome 12."
      Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R.
      , Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Montgomery K.T., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Lovering R.C., Wheeler D.A., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clerc-Blankenburg K.P., Davis C., Delgado O., Dinh H.H., Draper H., Gonzalez-Garay M.L., Havlak P., Jackson L.R., Jacob L.S., Kelly S.H., Li L., Li Z., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Pasternak S., Perez L.M., Plopper F.J.H., Santibanez J., Shen H., Tabor P.E., Verduzco D., Waldron L., Wang Q., Williams G.A., Zhang J., Zhou J., Allen C.C., Amin A.G., Anyalebechi V., Bailey M., Barbaria J.A., Bimage K.E., Bryant N.P., Burch P.E., Burkett C.E., Burrell K.L., Calderon E., Cardenas V., Carter K., Casias K., Cavazos I., Cavazos S.R., Ceasar H., Chacko J., Chan S.N., Chavez D., Christopoulos C., Chu J., Cockrell R., Cox C.D., Dang M., Dathorne S.R., David R., Davis C.M., Davy-Carroll L., Deshazo D.R., Donlin J.E., D'Souza L., Eaves K.A., Egan A., Emery-Cohen A.J., Escotto M., Flagg N., Forbes L.D., Gabisi A.M., Garza M., Hamilton C., Henderson N., Hernandez O., Hines S., Hogues M.E., Huang M., Idlebird D.G., Johnson R., Jolivet A., Jones S., Kagan R., King L.M., Leal B., Lebow H., Lee S., LeVan J.M., Lewis L.C., London P., Lorensuhewa L.M., Loulseged H., Lovett D.A., Lucier A., Lucier R.L., Ma J., Madu R.C., Mapua P., Martindale A.D., Martinez E., Massey E., Mawhiney S., Meador M.G., Mendez S., Mercado C., Mercado I.C., Merritt C.E., Miner Z.L., Minja E., Mitchell T., Mohabbat F., Mohabbat K., Montgomery B., Moore N., Morris S., Munidasa M., Ngo R.N., Nguyen N.B., Nickerson E., Nwaokelemeh O.O., Nwokenkwo S., Obregon M., Oguh M., Oragunye N., Oviedo R.J., Parish B.J., Parker D.N., Parrish J., Parks K.L., Paul H.A., Payton B.A., Perez A., Perrin W., Pickens A., Primus E.L., Pu L.-L., Puazo M., Quiles M.M., Quiroz J.B., Rabata D., Reeves K., Ruiz S.J., Shao H., Sisson I., Sonaike T., Sorelle R.P., Sutton A.E., Svatek A.F., Svetz L.A., Tamerisa K.S., Taylor T.R., Teague B., Thomas N., Thorn R.D., Trejos Z.Y., Trevino B.K., Ukegbu O.N., Urban J.B., Vasquez L.I., Vera V.A., Villasana D.M., Wang L., Ward-Moore S., Warren J.T., Wei X., White F., Williamson A.L., Wleczyk R., Wooden H.S., Wooden S.H., Yen J., Yoon L., Yoon V., Zorrilla S.E., Nelson D., Kucherlapati R., Weinstock G., Gibbs R.A.
      Nature 440:346-351(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. 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] (ISOFORM 1).
      Tissue: Liver.
    8. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    9. Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT THR-2, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS], CLEAVAGE OF INITIATOR METHIONINE [LARGE SCALE ANALYSIS].
    10. "Crystal structure of human 4-hydroxyphenylpyruvate dioxygenase."
      Structural genomics consortium (SGC)
      Submitted (SEP-2009) to the PDB data bank
      Cited for: X-RAY CRYSTALLOGRAPHY (1.75 ANGSTROMS) OF 8-393 IN COMPLEX WITH COBALT IONS.
    11. "Mutations in the 4-hydroxyphenylpyruvate dioxygenase gene (HPD) in patients with tyrosinemia type III."
      Rueetschi U., Cerone R., Perez-Cerda C., Schiaffino M.C., Standing S., Ugarte M., Holme E.
      Hum. Genet. 106:654-662(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS TYRSN3 CYS-160 AND MET-335, VARIANTS THR-33; PHE-267 AND LEU-340.
    12. "Mutations in the 4-hydroxyphenylpyruvic acid dioxygenase gene are responsible for tyrosinemia type III and hawkinsinuria."
      Tomoeda K., Awata H., Matsuura T., Matsuda I., Ploechl E., Milovac T., Boneh A., Scott C.R., Danks D.M., Endo F.
      Mol. Genet. Metab. 71:506-510(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT TYRSN3 VAL-268, VARIANT HAWK THR-33.

    Entry informationi

    Entry nameiHPPD_HUMAN
    AccessioniPrimary (citable) accession number: P32754
    Secondary accession number(s): A8K461, B3KQ63, Q13234
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: October 1, 1993
    Last sequence update: January 23, 2007
    Last modified: October 1, 2014
    This is version 151 of the entry and version 2 of the sequence. [Complete history]
    Entry statusiReviewed (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.

    Miscellaneousi

    Keywords - Technical termi

    3D-structure, Complete proteome, Reference proteome

    Documents

    1. Human chromosome 12
      Human chromosome 12: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. PATHWAY comments
      Index of metabolic and biosynthesis pathways
    6. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    7. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3