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Q96N76

- HUTU_HUMAN

UniProt

Q96N76 - HUTU_HUMAN

Protein

Urocanate hydratase

Gene

UROC1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 101 (01 Oct 2014)
      Sequence version 1 (01 Dec 2001)
      Previous versions | rss
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    Functioni

    Catalytic activityi

    3-(5-oxo-4,5-dihydro-3H-imidazol-4-yl)propanoate = urocanate + H2O.1 Publication

    Cofactori

    NAD.By similarity

    Pathwayi

    GO - Molecular functioni

    1. urocanate hydratase activity Source: BHF-UCL

    GO - Biological processi

    1. cellular nitrogen compound metabolic process Source: Reactome
    2. histidine catabolic process Source: BHF-UCL
    3. histidine catabolic process to glutamate and formamide Source: UniProtKB-UniPathway
    4. histidine catabolic process to glutamate and formate Source: UniProtKB-UniPathway
    5. small molecule metabolic process Source: Reactome

    Keywords - Molecular functioni

    Lyase

    Keywords - Biological processi

    Histidine metabolism

    Keywords - Ligandi

    NAD

    Enzyme and pathway databases

    ReactomeiREACT_1249. Histidine catabolism.
    UniPathwayiUPA00379; UER00550.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Urocanate hydratase (EC:4.2.1.49)
    Short name:
    Urocanase
    Alternative name(s):
    Imidazolonepropionate hydrolase
    Gene namesi
    Name:UROC1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 3

    Organism-specific databases

    HGNCiHGNC:26444. UROC1.

    Subcellular locationi

    GO - Cellular componenti

    1. cytosol Source: BHF-UCL

    Pathology & Biotechi

    Involvement in diseasei

    Urocanase deficiency (UROD) [MIM:276880]: An inborn error of histidine metabolism resulting in urocanic aciduria and neurological manifestations including mental retardation, ataxia, episodic aggressive behavior or exaggerated affection-seeking.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti70 – 701L → P in UROD. 1 Publication
    VAR_062649
    Natural varianti450 – 4501R → C in UROD; loss of activity. 1 Publication
    VAR_060221

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi276880. phenotype.
    Orphaneti210128. Urocanic aciduria.
    PharmGKBiPA134879207.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 676676Urocanate hydratasePRO_0000207374Add
    BLAST

    Proteomic databases

    PaxDbiQ96N76.
    PRIDEiQ96N76.

    PTM databases

    PhosphoSiteiQ96N76.

    Expressioni

    Gene expression databases

    BgeeiQ96N76.
    CleanExiHS_UROC1.
    GenevestigatoriQ96N76.

    Organism-specific databases

    HPAiHPA036253.
    HPA036254.

    Interactioni

    Protein-protein interaction databases

    BioGridi126291. 1 interaction.
    STRINGi9606.ENSP00000290868.

    Structurei

    3D structure databases

    ProteinModelPortaliQ96N76.
    SMRiQ96N76. Positions 82-638.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the urocanase family.Curated

    Phylogenomic databases

    eggNOGiCOG2987.
    HOGENOMiHOG000237607.
    HOVERGENiHBG031614.
    KOiK01712.
    OMAiCWSGNSN.
    OrthoDBiEOG776SPD.
    PhylomeDBiQ96N76.
    TreeFamiTF314306.

    Family and domain databases

    HAMAPiMF_00577. HutU.
    InterProiIPR023637. Urocanase.
    IPR023636. Urocanase_CS.
    [Graphical view]
    PfamiPF01175. Urocanase. 1 hit.
    [Graphical view]
    PIRSFiPIRSF001423. Urocanate_hydrat. 1 hit.
    SUPFAMiSSF111326. SSF111326. 1 hit.
    PROSITEiPS01233. UROCANASE. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q96N76-1) [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

    MSSLQALCSG LPLRPLPENR GRQAGVPHAP VRTPSLSPVE KQLALRNALR    50
    YFPPDVQELL APEFAQELQL YGHIYMYRFC PDIEMRAYPI EQYPCQTKVA 100
    AAIMHMIMNN LDPAVAQFPQ ELVTYGGNGQ VFSNWAQFWL TMFYLSKMTE 150
    EQTLVMYSGH PLGLFPSSRS APRLVITNGM VIPNYSSRTE YEKLFALGVT 200
    MYGQMTAGSY CYIGPQGIVH GTVLTVLNAA RRYLGIEDLA GKVFVTSGLG 250
    GMSGAQAKAA VIVGCIGVIA EVDKAALEKR HRQGWLMEVT DSLDRCIQRL 300
    REARKKKEVL SLGYHGNVVA LWERLVHELD TTGECLVDLG SDQTSCHNPF 350
    NGGYYPVQLS FTEAQSLMAS NPAVFKDLVQ ESLRRQVSAI NRLAEEKFFF 400
    WDYGNAFLLE AQRAGADVEK KGAGRTEFRY PSYVQHIMGD IFSQGFGPFR 450
    WVCTSGDPQD LAVTDELATS VLEEAIADGV KVSVKLQYMD NIRWIREAAR 500
    HRLVVGSQAR ILYSDQKGRV AIAVAINQAI ACRRIKAPVV LSRDHHDVSG 550
    TDSPFRETSN IYDGSAFCAD MAVQNFVGDA CRGATWVALH NGGGVGWGEV 600
    INGGFGLVLD GTPEAEGRAR LMLSWDVSNG VARRCWSGNQ KAYEIICQTM 650
    QENSTLVVTL PHKVEDERVL QQALQL 676
    Length:676
    Mass (Da):74,831
    Last modified:December 1, 2001 - v1
    Checksum:iC940D3D068648D17
    GO
    Isoform 2 (identifier: Q96N76-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         300-300: L → LRVLQLGLQQALGWAGLPAALGLCVLSCFVNLAPLGEGRCLAPSGFSRPLLGAPVLLLCPS

    Note: No experimental confirmation available.

    Show »
    Length:736
    Mass (Da):80,912
    Checksum:iBADDBCB7BCB4ACA5
    GO

    Sequence cautioni

    The sequence BAD38651.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti70 – 701L → P in UROD. 1 Publication
    VAR_062649
    Natural varianti188 – 1881R → W.
    Corresponds to variant rs34488036 [ dbSNP | Ensembl ].
    VAR_034000
    Natural varianti311 – 3111S → T.
    Corresponds to variant rs35062810 [ dbSNP | Ensembl ].
    VAR_034001
    Natural varianti429 – 4291R → C.
    Corresponds to variant rs9871671 [ dbSNP | Ensembl ].
    VAR_042732
    Natural varianti450 – 4501R → C in UROD; loss of activity. 1 Publication
    VAR_060221

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei300 – 3001L → LRVLQLGLQQALGWAGLPAA LGLCVLSCFVNLAPLGEGRC LAPSGFSRPLLGAPVLLLCP S in isoform 2. 1 PublicationVSP_045422

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB075869 mRNA. Translation: BAD38651.1. Different initiation.
    AK055862 mRNA. Translation: BAB71032.1.
    AC024558 Genomic DNA. No translation available.
    BC115405 mRNA. Translation: AAI15406.1.
    BC115406 mRNA. Translation: AAI15407.1.
    CCDSiCCDS3038.1. [Q96N76-1]
    CCDS54636.1. [Q96N76-2]
    RefSeqiNP_001159446.1. NM_001165974.1. [Q96N76-2]
    NP_653240.1. NM_144639.2. [Q96N76-1]
    UniGeneiHs.331148.

    Genome annotation databases

    EnsembliENST00000290868; ENSP00000290868; ENSG00000159650. [Q96N76-1]
    ENST00000383579; ENSP00000373073; ENSG00000159650. [Q96N76-2]
    GeneIDi131669.
    KEGGihsa:131669.
    UCSCiuc003eiz.2. human. [Q96N76-1]

    Polymorphism databases

    DMDMi22256789.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB075869 mRNA. Translation: BAD38651.1 . Different initiation.
    AK055862 mRNA. Translation: BAB71032.1 .
    AC024558 Genomic DNA. No translation available.
    BC115405 mRNA. Translation: AAI15406.1 .
    BC115406 mRNA. Translation: AAI15407.1 .
    CCDSi CCDS3038.1. [Q96N76-1 ]
    CCDS54636.1. [Q96N76-2 ]
    RefSeqi NP_001159446.1. NM_001165974.1. [Q96N76-2 ]
    NP_653240.1. NM_144639.2. [Q96N76-1 ]
    UniGenei Hs.331148.

    3D structure databases

    ProteinModelPortali Q96N76.
    SMRi Q96N76. Positions 82-638.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 126291. 1 interaction.
    STRINGi 9606.ENSP00000290868.

    PTM databases

    PhosphoSitei Q96N76.

    Polymorphism databases

    DMDMi 22256789.

    Proteomic databases

    PaxDbi Q96N76.
    PRIDEi Q96N76.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000290868 ; ENSP00000290868 ; ENSG00000159650 . [Q96N76-1 ]
    ENST00000383579 ; ENSP00000373073 ; ENSG00000159650 . [Q96N76-2 ]
    GeneIDi 131669.
    KEGGi hsa:131669.
    UCSCi uc003eiz.2. human. [Q96N76-1 ]

    Organism-specific databases

    CTDi 131669.
    GeneCardsi GC03M126200.
    HGNCi HGNC:26444. UROC1.
    HPAi HPA036253.
    HPA036254.
    MIMi 276880. phenotype.
    613012. gene.
    neXtProti NX_Q96N76.
    Orphaneti 210128. Urocanic aciduria.
    PharmGKBi PA134879207.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG2987.
    HOGENOMi HOG000237607.
    HOVERGENi HBG031614.
    KOi K01712.
    OMAi CWSGNSN.
    OrthoDBi EOG776SPD.
    PhylomeDBi Q96N76.
    TreeFami TF314306.

    Enzyme and pathway databases

    UniPathwayi UPA00379 ; UER00550 .
    Reactomei REACT_1249. Histidine catabolism.

    Miscellaneous databases

    GenomeRNAii 131669.
    NextBioi 82958.
    PROi Q96N76.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q96N76.
    CleanExi HS_UROC1.
    Genevestigatori Q96N76.

    Family and domain databases

    HAMAPi MF_00577. HutU.
    InterProi IPR023637. Urocanase.
    IPR023636. Urocanase_CS.
    [Graphical view ]
    Pfami PF01175. Urocanase. 1 hit.
    [Graphical view ]
    PIRSFi PIRSF001423. Urocanate_hydrat. 1 hit.
    SUPFAMi SSF111326. SSF111326. 1 hit.
    PROSITEi PS01233. UROCANASE. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Expression profiling and differential screening between hepatoblastomas and the corresponding normal livers: identification of high expression of the PLK1 oncogene as a poor-prognostic indicator of hepatoblastomas."
      Yamada S., Ohira M., Horie H., Ando K., Takayasu H., Suzuki Y., Sugano S., Hirata T., Goto T., Matsunaga T., Hiyama E., Hayashi Y., Ando H., Suita S., Kaneko M., Sasaki F., Hashizume K., Ohnuma N., Nakagawara A.
      Oncogene 23:5901-5911(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
    2. "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] (ISOFORM 1).
      Tissue: Liver.
    3. "The DNA sequence, annotation and analysis of human chromosome 3."
      Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., 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., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P., Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H., Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J., Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W., Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B., Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H., Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J., Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., Zhang X., Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R., Naylor S.L., Yang H., Olson M., Weinstock G., Gibbs R.A.
      Nature 440:1194-1198(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. "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).
    5. "Mutations in the urocanase gene UROC1 are associated with urocanic aciduria."
      Espinos C., Pineda M., Martinez-Rubio D., Lupo V., Ormazabal A., Vilaseca M.A., Spaapen L.J.M., Palau F., Artuch R.
      J. Med. Genet. 46:407-411(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: CATALYTIC ACTIVITY, VARIANTS UROD PRO-70 AND CYS-450.

    Entry informationi

    Entry nameiHUTU_HUMAN
    AccessioniPrimary (citable) accession number: Q96N76
    Secondary accession number(s): E9PE13, Q14C64, Q68CJ7
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: August 13, 2002
    Last sequence update: December 1, 2001
    Last modified: October 1, 2014
    This is version 101 of the entry and version 1 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

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 3
      Human chromosome 3: 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. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3