• Gene id: 131669

Gene Summary

• Gene Symbol: UROC1   Gene   UCSC   Ensembl
• Aliases: HMFN0320, UROCD
• Gene name: urocanate hydratase 1
• Alternate names: urocanate hydratase, imidazolonepropionate hydrolase, urocanase 1, urocanase domain containing 1,
• Gene location: 3q21.3 (126517772: 126481165)     Exons: 21     NC_000003.12
• Gene summary(Entrez): This gene encodes an enzyme involved in histidine catabolism, metabolizing urocanic acid to formiminoglutamic acid. The gene product is known to protect the skin from ultra violet rays and is contained in human sweat. Deficiency of this gene product in th
• OMIM: 609137

Protein Summary

• Protein general information: Q96N76  
  • Name: Urocanate hydratase (Urocanase) (EC 4.2.1.49) (Imidazolonepropionate hydrolase)
  • Length: 676  
  • Mass: 74831
• Sequence:

  MSSLQALCSGLPLRPLPENRGRQAGVPHAPVRTPSLSPVEKQLALRNALRYFPPDVQELLAPEFAQELQLYGHIY
  MYRFCPDIEMRAYPIEQYPCQTKVAAAIMHMIMNNLDPAVAQFPQELVTYGGNGQVFSNWAQFWLTMFYLSKMTE
  EQTLVMYSGHPLGLFPSSRSAPRLVITNGMVIPNYSSRTEYEKLFALGVTMYGQMTAGSYCYIGPQGIVHGTVLT
  VLNAARRYLGIEDLAGKVFVTSGLGGMSGAQAKAAVIVGCIGVIAEVDKAALEKRHRQGWLMEVTDSLDRCIQRL
  REARKKKEVLSLGYHGNVVALWERLVHELDTTGECLVDLGSDQTSCHNPFNGGYYPVQLSFTEAQSLMASNPAVF
  KDLVQESLRRQVSAINRLAEEKFFFWDYGNAFLLEAQRAGADVEKKGAGRTEFRYPSYVQHIMGDIFSQGFGPFR
  WVCTSGDPQDLAVTDELATSVLEEAIADGVKVSVKLQYMDNIRWIREAARHRLVVGSQARILYSDQKGRVAIAVA
  INQAIACRRIKAPVVLSRDHHDVSGTDSPFRETSNIYDGSAFCADMAVQNFVGDACRGATWVALHNGGGVGWGEV
  INGGFGLVLDGTPEAEGRARLMLSWDVSNGVARRCWSGNQKAYEIICQTMQENSTLVVTLPHKVEDERVLQQALQ
  L

• Structural information:
  • Interpro: IPR023637  IPR035401  IPR038364  IPR023636  IPR035400   IPR035085  IPR036190  
  • Prosite: PS01233
  • STRING: ENSP00000373073
• Other Databases: GeneCards:  UROC1  Malacards:  UROC1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006548	histidine catabolic process	IBA	biological process
GO:0016153	urocanate hydratase activity	IBA	molecular function
GO:0016153	urocanate hydratase activity	IEA	molecular function
GO:0016829	lyase activity	IEA	molecular function
GO:0006547	histidine metabolic process	IEA	biological process
GO:0016153	urocanate hydratase activity	IEA	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0006548	histidine catabolic process	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0016153	urocanate hydratase activity	IDA	molecular function
GO:0005829	cytosol	IDA	cellular component
GO:0006548	histidine catabolic process	IMP	biological process
GO:0019557	histidine catabolic process to glutamate and formate	IEA	biological process
GO:0019556	histidine catabolic process to glutamate and formamide	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00340	Histidine metabolism

Diseases

Associated diseases	References
Urocanase deficiency	KEGG:H01233
Urocanase deficiency	KEGG:H01233
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq