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Protein

Urocanate hydratase

Gene

UROC1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Caution

Catalytic activityi

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

Cofactori

NAD+By similarity

Pathwayi: L-histidine degradation into L-glutamate

This protein is involved in step 2 of the subpathway that synthesizes N-formimidoyl-L-glutamate from L-histidine.
Proteins known to be involved in the 3 steps of the subpathway in this organism are:
  1. Histidine ammonia-lyase (HAL)
  2. Urocanate hydratase (UROC1)
  3. Probable imidazolonepropionase (AMDHD1)
This subpathway is part of the pathway L-histidine degradation into L-glutamate, which is itself part of Amino-acid degradation.
View all proteins of this organism that are known to be involved in the subpathway that synthesizes N-formimidoyl-L-glutamate from L-histidine, the pathway L-histidine degradation into L-glutamate and in Amino-acid degradation.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Binding sitei204NADBy similarity1
Binding sitei271NADBy similarity1
Binding sitei403NAD; via carbonyl oxygenBy similarity1
Binding sitei594NAD; via carbonyl oxygenBy similarity1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi126 – 127NADBy similarity2
Nucleotide bindingi251 – 253NADBy similarity3
Nucleotide bindingi317 – 318NADBy similarity2
Nucleotide bindingi343 – 347NADBy similarity5
Nucleotide bindingi354 – 355NADBy similarity2

GO - Molecular functioni

  • urocanate hydratase activity Source: BHF-UCL

GO - Biological processi

Keywordsi

Molecular functionLyase
Biological processHistidine metabolism
LigandNAD

Enzyme and pathway databases

ReactomeiR-HSA-70921 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
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

EuPathDBiHostDB:ENSG00000159650.8
HGNCiHGNC:26444 UROC1
MIMi613012 gene
neXtProtiNX_Q96N76

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Pathology & Biotechi

Involvement in diseasei

Urocanase deficiency (UROCD)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn inborn error of histidine metabolism resulting in urocanic aciduria and neurological manifestations including mental retardation, ataxia, episodic aggressive behavior or exaggerated affection-seeking.
See also OMIM:276880
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06264970L → P in UROCD. 1 PublicationCorresponds to variant dbSNP:rs137852796Ensembl.1
Natural variantiVAR_060221450R → C in UROCD; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs137852795Ensembl.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi131669
MalaCardsiUROC1
MIMi276880 phenotype
OpenTargetsiENSG00000159650
Orphaneti210128 Urocanic aciduria
PharmGKBiPA134879207

Polymorphism and mutation databases

BioMutaiUROC1
DMDMi22256789

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002073741 – 676Urocanate hydrataseAdd BLAST676

Proteomic databases

PaxDbiQ96N76
PeptideAtlasiQ96N76
PRIDEiQ96N76

PTM databases

iPTMnetiQ96N76
PhosphoSitePlusiQ96N76

Expressioni

Gene expression databases

BgeeiENSG00000159650
CleanExiHS_UROC1
GenevisibleiQ96N76 HS

Organism-specific databases

HPAiHPA036253
HPA036254

Interactioni

Protein-protein interaction databases

IntActiQ96N76 1 interactor.
STRINGi9606.ENSP00000373073

Structurei

3D structure databases

ProteinModelPortaliQ96N76
SMRiQ96N76
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the urocanase family.Curated

Phylogenomic databases

eggNOGiENOG410IEG2 Eukaryota
COG2987 LUCA
GeneTreeiENSGT00390000015136
HOGENOMiHOG000237607
HOVERGENiHBG031614
InParanoidiQ96N76
KOiK01712
OMAiVSFHHGG
OrthoDBiEOG091G05SA
PhylomeDBiQ96N76
TreeFamiTF314306

Family and domain databases

Gene3Di3.40.50.107301 hit
HAMAPiMF_00577 HutU, 1 hit
InterProiView protein in InterPro
IPR023637 Urocanase
IPR035401 Urocanase_C
IPR038364 Urocanase_central_sf
IPR023636 Urocanase_CS
IPR035400 Urocanase_N
IPR035085 Urocanase_Rossmann-like
IPR036190 Urocanase_sf
PANTHERiPTHR12216 PTHR12216, 1 hit
PfamiView protein in Pfam
PF01175 Urocanase, 1 hit
PF17392 Urocanase_C, 1 hit
PF17391 Urocanase_N, 1 hit
PIRSFiPIRSF001423 Urocanate_hydrat, 1 hit
SUPFAMiSSF111326 SSF111326, 1 hit
PROSITEiView protein in PROSITE
PS01233 UROCANASE, 1 hit

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

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

        10         20         30         40         50
MSSLQALCSG LPLRPLPENR GRQAGVPHAP VRTPSLSPVE KQLALRNALR
60 70 80 90 100
YFPPDVQELL APEFAQELQL YGHIYMYRFC PDIEMRAYPI EQYPCQTKVA
110 120 130 140 150
AAIMHMIMNN LDPAVAQFPQ ELVTYGGNGQ VFSNWAQFWL TMFYLSKMTE
160 170 180 190 200
EQTLVMYSGH PLGLFPSSRS APRLVITNGM VIPNYSSRTE YEKLFALGVT
210 220 230 240 250
MYGQMTAGSY CYIGPQGIVH GTVLTVLNAA RRYLGIEDLA GKVFVTSGLG
260 270 280 290 300
GMSGAQAKAA VIVGCIGVIA EVDKAALEKR HRQGWLMEVT DSLDRCIQRL
310 320 330 340 350
REARKKKEVL SLGYHGNVVA LWERLVHELD TTGECLVDLG SDQTSCHNPF
360 370 380 390 400
NGGYYPVQLS FTEAQSLMAS NPAVFKDLVQ ESLRRQVSAI NRLAEEKFFF
410 420 430 440 450
WDYGNAFLLE AQRAGADVEK KGAGRTEFRY PSYVQHIMGD IFSQGFGPFR
460 470 480 490 500
WVCTSGDPQD LAVTDELATS VLEEAIADGV KVSVKLQYMD NIRWIREAAR
510 520 530 540 550
HRLVVGSQAR ILYSDQKGRV AIAVAINQAI ACRRIKAPVV LSRDHHDVSG
560 570 580 590 600
TDSPFRETSN IYDGSAFCAD MAVQNFVGDA CRGATWVALH NGGGVGWGEV
610 620 630 640 650
INGGFGLVLD GTPEAEGRAR LMLSWDVSNG VARRCWSGNQ KAYEIICQTM
660 670
QENSTLVVTL PHKVEDERVL QQALQL
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 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06264970L → P in UROCD. 1 PublicationCorresponds to variant dbSNP:rs137852796Ensembl.1
Natural variantiVAR_034000188R → W. Corresponds to variant dbSNP:rs34488036Ensembl.1
Natural variantiVAR_034001311S → T. Corresponds to variant dbSNP:rs35062810Ensembl.1
Natural variantiVAR_042732429R → C. Corresponds to variant dbSNP:rs9871671Ensembl.1
Natural variantiVAR_060221450R → C in UROCD; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs137852795Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_045422300L → LRVLQLGLQQALGWAGLPAA LGLCVLSCFVNLAPLGEGRC LAPSGFSRPLLGAPVLLLCP S in isoform 2. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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.3 human [Q96N76-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiHUTU_HUMAN
AccessioniPrimary (citable) accession number: Q96N76
Secondary accession number(s): E9PE13, Q14C64, Q68CJ7
Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 13, 2002
Last sequence update: December 1, 2001
Last modified: March 28, 2018
This is version 130 of the entry and version 1 of the sequence. See 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