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Q96N76 (HUTU_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 99. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Urocanate hydratase

Short name=Urocanase
EC=4.2.1.49
Alternative name(s):
Imidazolonepropionate hydrolase
Gene names
Name:UROC1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length676 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Catalytic activity

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

Cofactor

NAD By similarity. HAMAP-Rule MF_00577

Pathway

Amino-acid degradation; L-histidine degradation into L-glutamate; N-formimidoyl-L-glutamate from L-histidine: step 2/3. HAMAP-Rule MF_00577

Involvement in disease

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. Ref.5

Sequence similarities

Belongs to the urocanase family.

Sequence caution

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

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q96N76-1)

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.
Isoform 2 (identifier: Q96N76-2)

The sequence of this isoform differs from the canonical sequence as follows:
     300-300: L → LRVLQLGLQQALGWAGLPAALGLCVLSCFVNLAPLGEGRCLAPSGFSRPLLGAPVLLLCPS
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 676676Urocanate hydratase HAMAP-Rule MF_00577
PRO_0000207374

Natural variations

Alternative sequence3001L → LRVLQLGLQQALGWAGLPAA LGLCVLSCFVNLAPLGEGRC LAPSGFSRPLLGAPVLLLCP S in isoform 2.
VSP_045422
Natural variant701L → P in UROD. Ref.5
VAR_062649
Natural variant1881R → W.
Corresponds to variant rs34488036 [ dbSNP | Ensembl ].
VAR_034000
Natural variant3111S → T.
Corresponds to variant rs35062810 [ dbSNP | Ensembl ].
VAR_034001
Natural variant4291R → C.
Corresponds to variant rs9871671 [ dbSNP | Ensembl ].
VAR_042732
Natural variant4501R → C in UROD; loss of activity. Ref.5
VAR_060221

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified December 1, 2001. Version 1.
Checksum: C940D3D068648D17

FASTA67674,831
        10         20         30         40         50         60 
MSSLQALCSG LPLRPLPENR GRQAGVPHAP VRTPSLSPVE KQLALRNALR YFPPDVQELL 

        70         80         90        100        110        120 
APEFAQELQL YGHIYMYRFC PDIEMRAYPI EQYPCQTKVA AAIMHMIMNN LDPAVAQFPQ 

       130        140        150        160        170        180 
ELVTYGGNGQ VFSNWAQFWL TMFYLSKMTE EQTLVMYSGH PLGLFPSSRS APRLVITNGM 

       190        200        210        220        230        240 
VIPNYSSRTE YEKLFALGVT MYGQMTAGSY CYIGPQGIVH GTVLTVLNAA RRYLGIEDLA 

       250        260        270        280        290        300 
GKVFVTSGLG GMSGAQAKAA VIVGCIGVIA EVDKAALEKR HRQGWLMEVT DSLDRCIQRL 

       310        320        330        340        350        360 
REARKKKEVL SLGYHGNVVA LWERLVHELD TTGECLVDLG SDQTSCHNPF NGGYYPVQLS 

       370        380        390        400        410        420 
FTEAQSLMAS NPAVFKDLVQ ESLRRQVSAI NRLAEEKFFF WDYGNAFLLE AQRAGADVEK 

       430        440        450        460        470        480 
KGAGRTEFRY PSYVQHIMGD IFSQGFGPFR WVCTSGDPQD LAVTDELATS VLEEAIADGV 

       490        500        510        520        530        540 
KVSVKLQYMD NIRWIREAAR HRLVVGSQAR ILYSDQKGRV AIAVAINQAI ACRRIKAPVV 

       550        560        570        580        590        600 
LSRDHHDVSG TDSPFRETSN IYDGSAFCAD MAVQNFVGDA CRGATWVALH NGGGVGWGEV 

       610        620        630        640        650        660 
INGGFGLVLD GTPEAEGRAR LMLSWDVSNG VARRCWSGNQ KAYEIICQTM QENSTLVVTL 

       670 
PHKVEDERVL QQALQL 

« Hide

Isoform 2 [UniParc].

Checksum: BADDBCB7BCB4ACA5
Show »

FASTA73680,912

References

« Hide 'large scale' references
[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. expand/collapse author list , 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. expand/collapse author list , 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.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS3038.1. [Q96N76-1]
CCDS54636.1. [Q96N76-2]
RefSeqNP_001159446.1. NM_001165974.1. [Q96N76-2]
NP_653240.1. NM_144639.2. [Q96N76-1]
UniGeneHs.331148.

3D structure databases

ProteinModelPortalQ96N76.
SMRQ96N76. Positions 82-638.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid126291. 1 interaction.
STRING9606.ENSP00000290868.

PTM databases

PhosphoSiteQ96N76.

Polymorphism databases

DMDM22256789.

Proteomic databases

PaxDbQ96N76.
PRIDEQ96N76.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000290868; ENSP00000290868; ENSG00000159650. [Q96N76-1]
ENST00000383579; ENSP00000373073; ENSG00000159650. [Q96N76-2]
GeneID131669.
KEGGhsa:131669.
UCSCuc003eiz.2. human. [Q96N76-1]

Organism-specific databases

CTD131669.
GeneCardsGC03M126200.
HGNCHGNC:26444. UROC1.
HPAHPA036253.
HPA036254.
MIM276880. phenotype.
613012. gene.
neXtProtNX_Q96N76.
Orphanet210128. Urocanic aciduria.
PharmGKBPA134879207.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG2987.
HOGENOMHOG000237607.
HOVERGENHBG031614.
KOK01712.
OMACWSGNSN.
OrthoDBEOG776SPD.
PhylomeDBQ96N76.
TreeFamTF314306.

Enzyme and pathway databases

ReactomeREACT_111217. Metabolism.
UniPathwayUPA00379; UER00550.

Gene expression databases

BgeeQ96N76.
CleanExHS_UROC1.
GenevestigatorQ96N76.

Family and domain databases

HAMAPMF_00577. HutU.
InterProIPR023637. Urocanase.
IPR023636. Urocanase_CS.
[Graphical view]
PfamPF01175. Urocanase. 1 hit.
[Graphical view]
PIRSFPIRSF001423. Urocanate_hydrat. 1 hit.
SUPFAMSSF111326. SSF111326. 1 hit.
PROSITEPS01233. UROCANASE. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi131669.
NextBio82958.
PROQ96N76.
SOURCESearch...

Entry information

Entry nameHUTU_HUMAN
AccessionPrimary (citable) accession number: Q96N76
Secondary accession number(s): E9PE13, Q14C64, Q68CJ7
Entry history
Integrated into UniProtKB/Swiss-Prot: August 13, 2002
Last sequence update: December 1, 2001
Last modified: July 9, 2014
This is version 99 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PATHWAY comments

Index of metabolic and biosynthesis pathways

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 3

Human chromosome 3: entries, gene names and cross-references to MIM