UROC1 urocanate hydratase 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: UROC1provided by HGNC
Official Full Name: urocanate hydratase 1provided by HGNC
Primary source: HGNC:HGNC:26444
See related: Ensembl:ENSG00000159650 MIM:613012; AllianceGenome:HGNC:26444
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: UROCD; HMFN0320
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 transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2021]
Expression: Restricted expression toward liver (RPKM 20.9) See more
Orthologs: mouse all
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Genomic context

Location:: 3q21.3

Exon count:: 21

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (126481166..126517773, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (129213641..129250072, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (126200009..126236616, complement)

Chromosome 3 - NC_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Prognostic and immune roles of UROC1 in human cancers: from mechanism exploration of NAFLD and HCC to pan-cancer analysis.
Title: Prognostic and immune roles of UROC1 in human cancers: from mechanism exploration of NAFLD and HCC to pan-cancer analysis.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Urocanate hydratase deficiency MedGen: C0268514 OMIM: 276880 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables urocanate hydratase activity	IBA Inferred from Biological aspect of Ancestor more info
enables urocanate hydratase activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in L-histidine catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in L-histidine catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in L-histidine catabolic process to glutamate and formamide	IEA Inferred from Electronic Annotation more info
involved_in L-histidine catabolic process to glutamate and formate	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info

General protein information

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Preferred Names: urocanate hydratase

Names: imidazolonepropionate hydrolase; urocanase 1; urocanase domain containing 1

NP_001159446.1

EC 4.2.1.49

NP_653240.1

EC 4.2.1.49

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_016286.1 RefSeqGene

Range

4979..41586

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001165974.2 → NP_001159446.1 urocanate hydratase isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) has an alternate in-frame exon and uses an alternate in-frame splice site in the coding region, compared to variant 1. This results in a longer protein (isoform 2) compared to isoform 1.

Source sequence(s)

AB075869, AC024558, AK055862, BX108463, DA638082

Consensus CDS

CCDS54636.1

UniProtKB/Swiss-Prot

Q96N76

Related

ENSP00000373073.3, ENST00000383579.3

Conserved Domains (1) summary

pfam01175
Location:85 → 708

Urocanase; Urocanase
NM_144639.3 → NP_653240.1 urocanate hydratase isoform 1

See identical proteins and their annotated locations for NP_653240.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the predominant isoform (1).

Source sequence(s)

AC024558, AK055862, BC115405, BX108463, DA638082

Consensus CDS

CCDS3038.1

UniProtKB/Swiss-Prot

E9PE13, Q14C64, Q68CJ7, Q96N76

Related

ENSP00000290868.2, ENST00000290868.7

Conserved Domains (1) summary

pfam01175
Location:85 → 648

Urocanase; Urocanase