UROC1 (urocanate hydratase 1)

Gene

• Entrez ID: 131669
• Gene name: Urocanate hydratase 1
• Gene symbol: UROC1
• Synonyms (NCBI Gene): HMFN0320, UROCD
• Chromosome: 3
• Chromosome location: 3q21.3
• Summary: This gene encodes an enzyme involved in the second step of histidine catabolism, metabolizing urocanic acid to formiminoglutamic acid. Deficiency of this enzyme results in urocanic aciduria, and is an apparent cause of mental retardation. Multiple transcr

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs137852795	G>A	Pathogenic	Missense variant, coding sequence variant
rs137852796	A>G	Pathogenic	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT051488	hsa-let-7e-5p	CLASH	23622248
MIRT1477069	hsa-miR-3138	CLIP-seq
MIRT1477070	hsa-miR-4520a-3p	CLIP-seq
MIRT1477071	hsa-miR-4752	CLIP-seq
MIRT1477072	hsa-miR-4800-5p	CLIP-seq
MIRT1477073	hsa-miR-558	CLIP-seq
MIRT1477074	hsa-miR-593	CLIP-seq
MIRT1477075	hsa-miR-196a	CLIP-seq
MIRT1477076	hsa-miR-196b	CLIP-seq
MIRT1477077	hsa-miR-3621	CLIP-seq
MIRT1477078	hsa-miR-3656	CLIP-seq
MIRT1477079	hsa-miR-3665	CLIP-seq
MIRT1477080	hsa-miR-4455	CLIP-seq
MIRT1477081	hsa-miR-519a	CLIP-seq
MIRT1477082	hsa-miR-519b-3p	CLIP-seq
MIRT1477083	hsa-miR-519c-3p	CLIP-seq
MIRT1477084	hsa-miR-657	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005829	Component	Cytosol	IDA	19304569
GO:0005829	Component	Cytosol	TAS
GO:0006547	Process	L-histidine metabolic process	IEA
GO:0006548	Process	L-histidine catabolic process	IBA
GO:0006548	Process	L-histidine catabolic process	IMP	19304569
GO:0016153	Function	Urocanate hydratase activity	IBA
GO:0016153	Function	Urocanate hydratase activity	IDA	19304569
GO:0016153	Function	Urocanate hydratase activity	IEA
GO:0016829	Function	Lyase activity	IEA
GO:0019556	Process	L-histidine catabolic process to glutamate and formamide	IEA
GO:0019557	Process	L-histidine catabolic process to glutamate and formate	IEA

Other IDs

• MIM: 613012
• HGNC: 26444
• e!Ensembl: ENSG00000159650

Protein

• UniProt ID: Q96N76
• Protein name: Urocanate hydratase (Urocanase) (EC 4.2.1.49) (Imidazolonepropionate hydrolase)
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF17391	Urocanase_N	85 → 211	Urocanase N-terminal domain	Domain
  PF01175	Urocanase	214 → 437	Urocanase Rossmann-like domain	Domain
  PF17392	Urocanase_C	440 → 648	Urocanase C-terminal domain	Domain

• Sequence:

  MSSLQALCSGLPLRPLPENRGRQAGVPHAPVRTPSLSPVEKQLALRNALRYFPPDVQELL
  APEFAQELQLYGHIYMYRFCPDIEMRAYPIEQYPCQTKVAAAIMHMIMNNLDPAVAQFPQ
  ELVTYGGNGQVFSNWAQFWLTMFYLSKMTEEQTLVMYSGHPLGLFPSSRSAPRLVITNGM
  VIPNYSSRTEYEKLFALGVTMYGQMTAGSYCYIGPQGIVHGTVLTVLNAARRYLGIEDLA
  GKVFVTSGLGGMSGAQAKAAVIVGCIGVIAEVDKAALEKRHRQGWLMEVTDSLDRCIQRL
  REARKKKEVLSLGYHGNVVALWERLVHELDTTGECLVDLGSDQTSCHNPFNGGYYPVQLS
  FTEAQSLMASNPAVFKDLVQESLRRQVSAINRLAEEKFFFWDYGNAFLLEAQRAGADVEK
  KGAGRTEFRYPSYVQHIMGDIFSQGFGPFRWVCTSGDPQDLAVTDELATSVLEEAIADGV
  KVSVKLQYMDNIRWIREAARHRLVVGSQARILYSDQKGRVAIAVAINQAIACRRIKAPVV
  LSRDHHDVSGTDSPFRETSNIYDGSAFCADMAVQNFVGDACRGATWVALHNGGGVGWGEV
  INGGFGLVLDGTPEAEGRARLMLSWDVSNGVARRCWSGNQKAYEIICQTMQENSTLVVTL
  PHKVEDERVLQQALQL

• Sequence length: 676

Pathways

KEGG:

Histidine metabolism
Metabolic pathways

Reactome:

Histidine catabolism

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Urocanate hydratase deficiency	Pathogenic; Likely pathogenic	rs137852795, rs137852796, rs1935770465, rs781621925	RCV000000434 RCV000000435 RCV001250102 RCV001250106	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ANORECTAL MALFORMATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATAXIA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, HEPATOCELLULAR	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DISABILITY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TREATMENT-RESISTANT HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UROC1-related disorder	Likely benign; Conflicting classifications of pathogenicity; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UROCANASE DEFICIENCY	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UROCANIC ACIDURIA	—	ClinGen, GenCC, Orphanet ClinGen, GenCC, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Ataxia	Ataxia	Pubtator	19304569	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	38305606	Associate	★☆☆☆☆ Found in Text Mining only
Chromosomal Instability	Chromosomal instability	Pubtator	38305606	Associate	★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	19304569		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Mental retardation	CTD_human_DG	19304569		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Intellectual developmental disorder	Pubtator	19304569	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Mental retardation	GENOMICS_ENGLAND_DG	27604308, 30619714		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liver carcinoma	Liver carcinoma	CTD_human_DG	28284560		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	30755830		★☆☆☆☆ Found in Text Mining only
Mental deficiency	Mental retardation	CTD_human_DG	19304569		★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	19304569		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Methylmalonic acidemia	Methylmalonic acidemia	Pubtator	19304569	Associate	★☆☆☆☆ Found in Text Mining only
Profound Mental Retardation	Mental retardation	CTD_human_DG	19304569		★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tremor, Rubral	Rubral Tremor	CTD_human_DG	19304569		★☆☆☆☆ Found in Text Mining only
Urocanase deficiency	Urocanase Deficiency	BEFREE	19304569		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Urocanase deficiency	Urocanase Deficiency	ORPHANET_DG	19304569		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Urocanase deficiency	Urocanase Deficiency	UNIPROT_DG	19304569		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Urocanase deficiency	Urocanase Deficiency	CTD_human_DG	19304569		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Urocanase deficiency	Urocanase Deficiency	GENOMICS_ENGLAND_DG	19304569		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Urocanase deficiency	Urocanase Deficiency	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Urocanase deficiency	Urocanase Deficiency	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations