Q96N76 (HUTU_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Urocanate hydratase
Short name=Urocanase
EC=4.2.1.49

Alternative name(s):
Imidazolonepropionate hydrolase

Gene names

Name:

UROC1

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	676 AA.
Sequence status	Complete.
Protein existence	Evidence 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.
Pathway	Amino-acid degradation; L-histidine degradation into L-glutamate; N-formimidoyl-L-glutamate from L-histidine: step 2/3.
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.

Ontologies

Keywords
Biological process	Histidine metabolism
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Disease mutation
Ligand	NAD
Molecular function	Lyase
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	histidine catabolic process Inferred from mutant phenotype Ref.5. Source: BHF-UCL histidine catabolic process to glutamate and formamide Inferred from electronic annotation. Source: UniProtKB-UniPathway histidine catabolic process to glutamate and formate Inferred from electronic annotation. Source: UniProtKB-UniPathway
Cellular_component	cytosol Inferred from direct assay Ref.5. Source: BHF-UCL
Molecular_function	urocanate hydratase activity Inferred from direct assay Ref.5. Source: BHF-UCL
Complete GO annotation...

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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 676	676	Urocanate hydratase		PRO_0000207374
Natural variations
	Alternative sequence	300	1	L → LRVLQLGLQQALGWAGLPAA LGLCVLSCFVNLAPLGEGRC LAPSGFSRPLLGAPVLLLCP S in isoform 2.		VSP_045422
	Natural variant	70	1	L → P in UROD. Ref.5		VAR_062649
	Natural variant	188	1	R → W. Corresponds to variant rs34488036 [ dbSNP | Ensembl ].		VAR_034000
	Natural variant	311	1	S → T. Corresponds to variant rs35062810 [ dbSNP | Ensembl ].		VAR_034001
	Natural variant	429	1	R → C. Corresponds to variant rs9871671 [ dbSNP | Ensembl ].		VAR_042732
	Natural variant	450	1	R → C in UROD; loss of activity. Ref.5		VAR_060221

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified December 1, 2001. Version 1. Checksum: C940D3D068648D17	FASTA	676	74,831
	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
	Isoform 2 [UniParc]. Checksum: BADDBCB7BCB4ACA5	FASTA	736	80,912
	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 RVLQLGLQQA LGWAGLPAAL GLCVLSCFVN LAPLGEGRCL APSGFSRPLL GAPVLLLCPS 370 380 390 400 410 420 REARKKKEVL SLGYHGNVVA LWERLVHELD TTGECLVDLG SDQTSCHNPF NGGYYPVQLS 430 440 450 460 470 480 FTEAQSLMAS NPAVFKDLVQ ESLRRQVSAI NRLAEEKFFF WDYGNAFLLE AQRAGADVEK 490 500 510 520 530 540 KGAGRTEFRY PSYVQHIMGD IFSQGFGPFR WVCTSGDPQD LAVTDELATS VLEEAIADGV 550 560 570 580 590 600 KVSVKLQYMD NIRWIREAAR HRLVVGSQAR ILYSDQKGRV AIAVAINQAI ACRRIKAPVV 610 620 630 640 650 660 LSRDHHDVSG TDSPFRETSN IYDGSAFCAD MAVQNFVGDA CRGATWVALH NGGGVGWGEV 670 680 690 700 710 720 INGGFGLVLD GTPEAEGRAR LMLSWDVSNG VARRCWSGNQ KAYEIICQTM QENSTLVVTL 730 PHKVEDERVL QQALQL

References

	« Hide 'large scale' referencesShow '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. , 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.

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.
IPI	IPI00043499. IPI00470790.
RefSeq	NP_001159446.1. NM_001165974.1. NP_653240.1. NM_144639.2.
UniGene	Hs.331148.
3D structure databases
ProteinModelPortal	Q96N76.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000290868.
PTM databases
PhosphoSite	Q96N76.
Polymorphism databases
DMDM	22256789.
Proteomic databases
PaxDb	Q96N76.
PRIDE	Q96N76.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000290868; ENSP00000290868; ENSG00000159650. ENST00000383579; ENSP00000373073; ENSG00000159650.
GeneID	131669.
KEGG	hsa:131669.
UCSC	uc003eiz.2. human.
Organism-specific databases
CTD	131669.
GeneCards	GC03M126200.
HGNC	HGNC:26444. UROC1.
HPA	HPA036253.
MIM	276880. phenotype. 613012. gene.
neXtProt	NX_Q96N76.
Orphanet	210128. Urocanic aciduria.
PharmGKB	PA134879207.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG2987.
HOGENOM	HOG000237607.
HOVERGEN	HBG031614.
KO	K01712.
OrthoDB	EOG4Q84X1.
PhylomeDB	Q96N76.
Enzyme and pathway databases
Reactome	REACT_111217. Metabolism.
UniPathway	UPA00379; UER00550.
Gene expression databases
ArrayExpress	Q96N76.
Bgee	Q96N76.
CleanEx	HS_UROC1.
Genevestigator	Q96N76.
GermOnline	ENSG00000159650. Homo sapiens.
Family and domain databases
InterPro	IPR000193. Urocanase. IPR023636. Urocanase_CS. IPR023637. Urocanase_dom. [Graphical view]
Pfam	PF01175. Urocanase. 1 hit. [Graphical view]
PIRSF	PIRSF001423. Urocanate_hydrat. 1 hit.
SUPFAM	SSF111326. Urocanase. 1 hit.
PROSITE	PS01233. UROCANASE. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	131669.
NextBio	82958.
SOURCE	Search...

Entry information

Entry name

HUTU_HUMAN

Accession

Primary (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:	May 1, 2013
This is version 89 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.