URAD ureidoimidazoline (2-oxo-4-hydroxy-4-carboxy-5-) decarboxylase [Homo sapiens (human)] - Gene

Summary

Official Symbol: URADprovided by HGNC
Official Full Name: ureidoimidazoline (2-oxo-4-hydroxy-4-carboxy-5-) decarboxylaseprovided by HGNC
Primary source: HGNC:HGNC:17785
See related: Ensembl:ENSG00000183463 MIM:615804; AllianceGenome:HGNC:17785
Gene type: protein coding
RefSeq status: INFERRED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: PRHOXNB
Summary: Predicted to enable 2-oxo-4-hydroxy-4-carboxy-5-ureidoimidazoline decarboxylase activity. Predicted to be involved in amide catabolic process; nucleobase-containing small molecule metabolic process; and urate catabolic process. Predicted to be active in peroxisome. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Biased expression in colon (RPKM 3.8), small intestine (RPKM 0.9) and 2 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 13q12.2

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	13	NC_000013.11 (27977717..27988693, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	13	NC_060937.1 (27199102..27210083, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	13	NC_000013.10 (28551854..28562830, complement)

Chromosome 13 - NC_000013.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Submit: New GeneRIF Correction

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

EBI GWAS Catalog

Description
Genome-wide association study identifies multiple susceptibility loci for pancreatic cancer. EBI GWAS Catalog EBI GWAS CatalogPubMed

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
NOT enables 2-oxo-4-hydroxy-4-carboxy-5-ureidoimidazoline decarboxylase activity	IBA Inferred from Biological aspect of Ancestor more info
enables carboxy-lyase activity	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in allantoin metabolic process	IEA Inferred from Electronic Annotation more info
involved_in purine nucleobase metabolic process	IEA Inferred from Electronic Annotation more info
NOT involved_in urate catabolic process	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in peroxisome	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: putative 2-oxo-4-hydroxy-4-carboxy-5-ureidoimidazoline decarboxylase

Names: OHCU decarboxylase; parahox cluster neighbor

NP_001099047.1

EC 4.1.1.97

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.