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)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › 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.3
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	Defects in UROC1 are a cause of 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. Ref.3
Sequence similarities	Belongs to the urocanase family.

Ontologies

Keywords
Biological process	Histidine metabolism
Coding sequence diversity	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.3. Source: BHF-UCL
Cellular component	cytosol Inferred from direct assay Ref.3. Source: BHF-UCL
Molecular function	urocanate hydratase activity Inferred from direct assay Ref.3. Source: BHF-UCL
Complete GO annotation...

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
	Natural variant	70	1	L → P in UROD. Ref.3		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.3		VAR_060221

Sequences

	Sequence		Length	Mass (Da)
	Q96N76 [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

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"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: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Liver.
[2]	"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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[3]	"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: 19304569] [Abstract] Cited for: CATALYTIC ACTIVITY, VARIANTS UROD PRO-70 AND CYS-450.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AK055862 mRNA. Translation: BAB71032.1. BC115405 mRNA. Translation: AAI15406.1. BC115406 mRNA. Translation: AAI15407.1.
IPI	IPI00043499.
RefSeq	NP_001159446.1. NM_001165974.1. NP_653240.1. NM_144639.2.
UniGene	Hs.331148.
3D structure databases
ProteinModelPortal	Q96N76.
SMR	Q96N76. Positions 80-663.
ModBase	Search...
Protein-protein interaction databases
STRING	Q96N76.
PTM databases
PhosphoSite	Q96N76.
Polymorphism databases
DMDM	22256789.
Proteomic databases
PRIDE	Q96N76.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000290868; ENSP00000290868; ENSG00000159650.
GeneID	131669.
KEGG	hsa:131669.
NMPDR	fig|9606.3.peg.23117.
UCSC	uc003eiz.1. human.
Organism-specific databases
CTD	131669.
GeneCards	GC03M126200.
HGNC	HGNC:26444. UROC1.
HPA	HPA036253.
MIM	276880. phenotype. 613012. gene.
neXtProt	NX_Q96N76.
Orphanet	210128. Encephalopathy due to urocanase deficiency.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG18378.
GeneTree	ENSGT00390000015136.
HOVERGEN	HBG031614.
OrthoDB	EOG4Q84X1.
PhylomeDB	Q96N76.
Enzyme and pathway databases
Reactome	REACT_111217. Metabolism.
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]
KO	K01712.
PANTHER	PTHR12216. PTHR12216. 1 hit.
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
NextBio	82958.
SOURCE	Search...

Entry information

Entry name

HUTU_HUMAN

Accession

Primary (citable) accession number: Q96N76
Secondary accession number(s): Q14C64

Entry history

Integrated into UniProtKB/Swiss-Prot:	August 13, 2002
Last sequence update:	December 1, 2001
Last modified:	January 25, 2012
This is version 76 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.