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Q96N76

- HUTU_HUMAN

UniProt

Q96N76 - HUTU_HUMAN

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Protein
Urocanate hydratase
Gene
UROC1
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

Catalytic activityi

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

Cofactori

NAD By similarity.UniRule annotation

Pathwayi

GO - Molecular functioni

  1. urocanate hydratase activity Source: BHF-UCL
Complete GO annotation...

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
Complete GO annotation...

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
Complete GO annotation...

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.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
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 hydrataseUniRule annotation
PRO_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.

Family & Domainsi

Sequence similaritiesi

Belongs to the urocanase family.

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.
VSP_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...

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

« Hide 'large scale' publications
  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: September 3, 2014
This is version 100 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

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