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UROC1 urocanate hydratase 1 [ Homo sapiens (human) ]

Gene ID: 131669, updated on 23-Nov-2021

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
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
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Genomic context

See UROC1 in Genome Data Viewer
Location:
3q21.3
Exon count:
21
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (126481166..126517773, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (126200009..126236616, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene cilia and flagella associated protein 100 Neighboring gene ZXD family zinc finger C Neighboring gene chromosome 3 open reading frame 22 Neighboring gene carbohydrate sulfotransferase 13 Neighboring gene uncharacterized LOC105374090 Neighboring gene RNA, 5S ribosomal pseudogene 138

Genomic regions, transcripts, and products

Expression

  • Project title: 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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ31300, MGC135007, MGC135008

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
PubMed 
enables urocanate hydratase activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
involved_in histidine catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in histidine catabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in histidine catabolic process to glutamate and formamide IEA
Inferred from Electronic Annotation
more info
 
involved_in 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

Preferred Names
urocanate hydratase
Names
imidazolonepropionate hydrolase
urocanase 1
urocanase domain containing 1
NP_001159446.1
NP_653240.1

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

  1. NG_016286.1 RefSeqGene

    Range
    4979..41586
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001165974.2NP_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:85708
    Urocanase; Urocanase
  2. NM_144639.3NP_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
    Q96N76
    Related
    ENSP00000290868.2, ENST00000290868.7
    Conserved Domains (1) summary
    pfam01175
    Location:85648
    Urocanase; Urocanase

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    126481166..126517773 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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