URAD

Summary

URAD (ureidoimidazoline (2-oxo-4-hydroxy-4-carboxy-5-) decarboxylase, HGNC:17785) is a protein-coding gene on chromosome 13q12.2, encoding Putative 2-oxo-4-hydroxy-4-carboxy-5-ureidoimidazoline decarboxylase (A6NGE7). Catalyzes the stereoselective decarboxylation of 2-oxo-4-hydroxy-4-carboxy-5-ureidoimidazoline (OHCU) to (S)-allantoin.

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.

Source: NCBI Gene 646625 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 39 total
• MANE Select transcript: NM_001105577

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:17785
Approved symbol	URAD
Name	ureidoimidazoline (2-oxo-4-hydroxy-4-carboxy-5-) decarboxylase
Location	13q12.2
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000183463
Ensembl biotype	protein_coding
OMIM	615804
Entrez	646625

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 1 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000332715, ENST00000713555

RefSeq mRNA: 1 — MANE Select: NM_001105577 NM_001105577

CCDS: CCDS45020

Canonical transcript exons

ENST00000332715 — 2 exons

Exon	Start	End
ENSE00001303830	27988463	27988693
ENSE00004020279	27977717	27978452

Expression profiles

Bgee: expression breadth broad, 37 present calls, max score 93.71.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0304 / max 7.1119, expressed in 21 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
136522	0.0304	21

Top tissues by expression

117 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
mucosa of transverse colon	UBERON:0004991	93.71	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	82.88	gold quality
transverse colon	UBERON:0001157	80.48	gold quality
small intestine Peyer’s patch	UBERON:0003454	78.50	gold quality
small intestine	UBERON:0002108	77.64	gold quality
duodenum	UBERON:0002114	76.85	gold quality
colonic epithelium	UBERON:0000397	66.41	gold quality
intestine	UBERON:0000160	64.40	gold quality
colon	UBERON:0001155	59.55	gold quality
vermiform appendix	UBERON:0001154	58.56	gold quality
rectum	UBERON:0001052	56.20	gold quality
cerebellum	UBERON:0002037	49.27	gold quality
cerebellar hemisphere	UBERON:0002245	49.23	gold quality
cerebellar cortex	UBERON:0002129	49.22	gold quality
right hemisphere of cerebellum	UBERON:0014890	47.15	silver quality
bone marrow cell	CL:0002092	41.71	gold quality
left testis	UBERON:0004533	37.85	gold quality
testis	UBERON:0000473	37.49	gold quality
apex of heart	UBERON:0002098	37.33	silver quality
right testis	UBERON:0004534	37.16	gold quality
hindlimb stylopod muscle	UBERON:0004252	36.90	silver quality
smooth muscle tissue	UBERON:0001135	36.53	gold quality
ventricular zone	UBERON:0003053	36.48	gold quality
cortical plate	UBERON:0005343	36.47	gold quality
bone marrow	UBERON:0002371	36.00	gold quality
subcutaneous adipose tissue	UBERON:0002190	35.68	gold quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
blood	UBERON:0000178	35.48	gold quality
muscle tissue	UBERON:0002385	35.35	gold quality
monocyte	CL:0000576	35.26	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-GEOD-125970	yes	20.06
E-ANND-3	yes	7.09

Regulation

Is transcription factor: no

Cross-species orthologs

7 orthologs

Organism	Symbol	Gene ID
danio_rerio	urahb	ENSDARG00000089331
danio_rerio	uraha	ENSDARG00000100719
mus_musculus	Urah	ENSMUSG00000025481
rattus_norvegicus	Urah	ENSRNOG00000048275
drosophila_melanogaster	CG30016	FBGN0050016
caenorhabditis_elegans		WBGENE00011181
caenorhabditis_elegans		WBGENE00022808

Paralogs (1): TTR (ENSG00000118271)

Protein

Protein identifiers

Putative 2-oxo-4-hydroxy-4-carboxy-5-ureidoimidazoline decarboxylase — A6NGE7 (reviewed: A6NGE7)

Alternative names: Parahox neighbor, Ureidoimidazoline (2-oxo-4-hydroxy-4-carboxy-5-) decarboxylase

All UniProt accessions (1): A6NGE7

UniProt curated annotations — full annotation on UniProt →

Function. Catalyzes the stereoselective decarboxylation of 2-oxo-4-hydroxy-4-carboxy-5-ureidoimidazoline (OHCU) to (S)-allantoin.

Subcellular location. Peroxisome.

Tissue specificity. Apparently not expressed.

Pathway. Purine metabolism; urate degradation; (S)-allantoin from urate: step 3/3.

Similarity. Belongs to the OHCU decarboxylase family.

RefSeq proteins (1): NP_001099047* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR017580	OHCU_decarboxylase-1	Domain
IPR018020	OHCU_decarboxylase	Domain
IPR036778	OHCU_decarboxylase_sf	Homologous_superfamily

Pfam: PF09349

Catalyzed reactions (Rhea), 1 shown:

• 5-hydroxy-2-oxo-4-ureido-2,5-dihydro-1H-imidazole-5-carboxylate + H(+) = (S)-allantoin + CO2 (RHEA:26301)

UniProt features (7 total): binding site 3, chain 1, short sequence motif 1, active site 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A6NGE7-F1	95.44	0.95

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Catalytic / active sites (1): 67 (proton donor)

Ligand- & substrate-binding residues (3): 68; 84–88; 119–123

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 19 (showing top): GOBP_NUCLEOBASE_CONTAINING_SMALL_MOLECULE_METABOLIC_PROCESS, GOBP_NUCLEOBASE_METABOLIC_PROCESS, GOBP_AMIDE_METABOLIC_PROCESS, KEGG_PURINE_METABOLISM, GOBP_PURINE_NUCLEOBASE_METABOLIC_PROCESS, GOBP_PURINE_CONTAINING_COMPOUND_METABOLIC_PROCESS, GOCC_MICROBODY, GOMF_CARBOXY_LYASE_ACTIVITY, GOMF_CARBON_CARBON_LYASE_ACTIVITY, KINNEY_DNMT1_METHYLATION_TARGETS, DESCARTES_MAIN_FETAL_INTESTINAL_EPITHELIAL_CELLS, GOBP_SMALL_MOLECULE_METABOLIC_PROCESS, GOBP_ALLANTOIN_METABOLIC_PROCESS, GOMF_LYASE_ACTIVITY, GSE13173_UNTREATED_VS_IL12_TREATED_ACT_CD8_TCELL_UP

GO Biological Process (2): allantoin metabolic process (GO:0000255), purine nucleobase metabolic process (GO:0006144)

GO Molecular Function (2): carboxy-lyase activity (GO:0016831), lyase activity (GO:0016829)

GO Cellular Component (1): peroxisome (GO:0005777)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
metabolic process	1
nucleobase metabolic process	1
purine-containing compound metabolic process	1
carbon-carbon lyase activity	1
catalytic activity	1
microbody	1

Protein interactions and networks

STRING

456 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
URAD	ACP4	Q9BZG2	418
URAD	RXFP4	Q8TDU9	405
URAD	ACOX2	Q99424	399
URAD	DEFB124	Q8NES8	399
URAD	TGM5	O43548	392
URAD	DSG4	Q86SJ6	389
URAD	CRYBA1	P05813	384
URAD	AADACL3	Q5VUY0	384
URAD	SLC24A1	O60721	383
URAD	PDE6C	P51160	383
URAD	ADAMTS20	P59510	383
URAD	OSER1	Q9NX31	379
URAD	CCDC59	Q9P031	379
URAD	TBX22	Q9Y458	379
URAD	GNAT2	P19087	378

IntAct

2 interactions, top by confidence:

A	B	Type	Score
URAD	RPN1	psi-mi:“MI:0915”(physical association)	0.400

BioGRID (1): RPN1 (Proximity Label-MS)

ESM2 similar proteins: A0AVT1, A1L1C5, A1L259, A2RTX5, A3KMX8, A5PJD0, A6H630, A6NGE7, B8ZXI1, O60678, O70467, O75879, P32455, P32456, Q0V9S0, Q0ZDF7, Q22017, Q283N4, Q2KHV5, Q4R526, Q4R646, Q58EM4, Q5D1D6, Q5R998, Q5RBE1, Q5ZIE6, Q61107, Q68EH8, Q6AXB1, Q6AYT5, Q6DJ95, Q6DJA3, Q6ING7, Q6NTW6, Q6PA41, Q6ZN66, Q7SXP2, Q7T010, Q8BIJ6, Q8BLY2

Diamond homologs: A1L1C5, A1L259, A5PJD0, A6NGE7, D4GPU8, D8JBB8, Q0ZDF7, Q283N4, Q45697, Q9LVM5, O32141, Q54SV3, D4GPU7, D8JBB7, P33282, A1A8H7, A3DE07, A7Z8F5, A7ZIR8, A7ZXG5, A9MW45, B0K2E8, B0KA35, B1IZ89, B1LKD0, B1XGB0, B3E3I1, B4SXM8, B4T9L5, B5BD11, B5EYC3, B5FLN3, B5QUT6, B5R646, B6I0G2, B7L7D8, B7M4L5, B7ME34, B7MQM2, B7N966

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

39 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	37
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

697 predictions. Top by Δscore:

Variant	Effect	Δscore
13:27988457:CCTTA:C	donor_loss	1.0000
13:27988458:CTTAC:C	donor_loss	1.0000
13:27988459:TTA:T	donor_loss	1.0000
13:27988460:TACCT:T	donor_loss	1.0000
13:27988461:ACC:A	donor_loss	1.0000
13:27988462:C:CT	donor_loss	1.0000
13:27988462:CCTGA:C	donor_gain	1.0000
13:27988513:T:TA	donor_gain	1.0000
13:27978453:C:CC	acceptor_gain	0.9800
13:27988461:A:AC	donor_gain	0.9800
13:27988462:C:CC	donor_gain	0.9800
13:27988502:T:TA	donor_gain	0.9800
13:27978448:CTGGC:C	acceptor_gain	0.9700
13:27978450:GGCCT:G	acceptor_loss	0.9700
13:27978452:CCTG:C	acceptor_loss	0.9700
13:27978454:T:A	acceptor_loss	0.9700
13:27980490:G:A	donor_gain	0.9500
13:27978450:GGC:G	acceptor_gain	0.9200
13:27978618:T:TA	donor_gain	0.9200
13:27978449:TGGC:T	acceptor_gain	0.9100
13:27979218:ATTCC:A	donor_gain	0.9000
13:27978455:G:C	acceptor_loss	0.8900
13:27978451:GC:G	acceptor_gain	0.8600
13:27978452:CC:C	acceptor_gain	0.8600
13:27978456:C:CT	acceptor_gain	0.8600
13:27979676:C:CC	acceptor_gain	0.8500
13:27980481:CGG:C	donor_gain	0.8500
13:27980609:C:A	donor_gain	0.8500
13:27979937:CCACA:C	donor_gain	0.8400
13:27980991:CTCT:C	donor_gain	0.8400

AlphaMissense

1107 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
13:27988524:G:C	F38L	0.958
13:27988524:G:T	F38L	0.958
13:27988526:A:G	F38L	0.958
13:27978283:G:C	F115L	0.957
13:27978283:G:T	F115L	0.957
13:27978285:A:G	F115L	0.957
13:27988596:G:C	F14L	0.952
13:27988596:G:T	F14L	0.952
13:27988598:A:G	F14L	0.952
13:27978277:G:C	F117L	0.943
13:27978277:G:T	F117L	0.943
13:27978279:A:G	F117L	0.943
13:27978271:G:C	F119L	0.940
13:27978271:G:T	F119L	0.940
13:27978273:A:G	F119L	0.940
13:27978163:C:A	K155N	0.911
13:27978163:C:G	K155N	0.911
13:27988485:A:C	F51L	0.905
13:27988485:A:T	F51L	0.905
13:27988487:A:G	F51L	0.905
13:27988584:A:C	F18L	0.880
13:27988584:A:T	F18L	0.880
13:27988586:A:G	F18L	0.880
13:27978147:G:T	R161S	0.870
13:27978440:A:G	I63T	0.854
13:27978278:A:G	F117S	0.842
13:27978297:A:G	Y111H	0.839
13:27978429:G:C	H67D	0.832
13:27978190:C:A	E146D	0.801
13:27978190:C:G	E146D	0.801

dbSNP variants (sampled 300 via entrez): RS1000067485 (13:27987877 A>T), RS1000349335 (13:27982873 A>G,T), RS1000457849 (13:27977397 C>CA), RS1001042556 (13:27990411 C>A), RS1001142484 (13:27977593 C>G), RS1001215917 (13:27977810 C>T), RS1001391420 (13:27981112 C>G), RS1001614250 (13:27988236 C>T), RS1001952538 (13:27986985 G>A), RS1002790426 (13:27979664 T>C), RS1003043233 (13:27990007 G>A), RS1003331776 (13:27984965 C>A,T), RS1003763367 (13:27984247 T>C), RS1003971118 (13:27987282 C>T), RS1004220782 (13:27983917 A>T)

Disease associations

OMIM: gene MIM:615804 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST002553_1	Pancreatic cancer	2.000000e-09
GCST005951_4	Body mass index	2.000000e-08

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004340	body mass index

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

2 total (human), top 2 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	increases methylation	1
Triclosan	increases expression	1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.