Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	7389
Gene name Gene Name - the full gene name approved by the HGNC.	Uroporphyrinogen decarboxylase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	UROD
Synonyms (NCBI Gene) Gene synonyms aliases	PCT, UPD
Chromosome Chromosome number	1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	1p34.1
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes an enzyme in the heme biosynthetic pathway. This enzyme is responsible for catalyzing the conversion of uroporphyrinogen to coproporphyrinogen through the removal of four carboxymethyl side chains. Mutations and deficiency in this enzyme

Show/Hide all(13)

SNP ID	Visualize variation	Clinical significance	Consequence
rs121918057	G>A,T	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs121918058	G>A	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs121918059	C>G,T	Pathogenic, uncertain-significance	Non coding transcript variant, missense variant, coding sequence variant
rs121918061	A>G,T	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs121918062	G>A	Pathogenic	Non coding transcript variant, synonymous variant, coding sequence variant
rs121918063	T>G	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs121918064	C>G,T	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs121918065	C>A	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs121918066	G>A	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs143823335	G>A,C	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs145195562	G>C	Pathogenic	Splice donor variant
rs397514765	C>T	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1569967143	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained

Show/Hide all(27)

miRTarBase ID	miRNA	Experiments	Reference
MIRT047424	hsa-miR-10b-5p	CLASH	23622248
MIRT046708	hsa-miR-222-3p	CLASH	23622248
MIRT040550	hsa-miR-92b-3p	CLASH	23622248
MIRT1477085	hsa-miR-2355-3p	CLIP-seq
MIRT1477086	hsa-miR-3152-3p	CLIP-seq
MIRT1477087	hsa-miR-3690	CLIP-seq
MIRT1477088	hsa-miR-4254	CLIP-seq
MIRT1477089	hsa-miR-4261	CLIP-seq
MIRT1477090	hsa-miR-4460	CLIP-seq
MIRT1477091	hsa-miR-4705	CLIP-seq
MIRT1477092	hsa-miR-4719	CLIP-seq
MIRT1477093	hsa-miR-4727-3p	CLIP-seq
MIRT1477094	hsa-miR-513b	CLIP-seq
MIRT1477095	hsa-miR-676	CLIP-seq
MIRT1477096	hsa-miR-875-3p	CLIP-seq
MIRT2364000	hsa-miR-140-5p	CLIP-seq
MIRT1477085	hsa-miR-2355-3p	CLIP-seq
MIRT1477086	hsa-miR-3152-3p	CLIP-seq
MIRT2364001	hsa-miR-3545-5p	CLIP-seq
MIRT1477087	hsa-miR-3690	CLIP-seq
MIRT1477088	hsa-miR-4254	CLIP-seq
MIRT1477089	hsa-miR-4261	CLIP-seq
MIRT1477090	hsa-miR-4460	CLIP-seq
MIRT1477091	hsa-miR-4705	CLIP-seq
MIRT1477093	hsa-miR-4727-3p	CLIP-seq
MIRT1477095	hsa-miR-676	CLIP-seq
MIRT1477096	hsa-miR-875-3p	CLIP-seq

Show/Hide all(29)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004853	Function	Uroporphyrinogen decarboxylase activity	IBA
GO:0004853	Function	Uroporphyrinogen decarboxylase activity	IDA	11069625, 11719352, 12071824, 14633982, 18004775, 21668429
GO:0004853	Function	Uroporphyrinogen decarboxylase activity	IEA
GO:0004853	Function	Uroporphyrinogen decarboxylase activity	TAS	1634232
GO:0005515	Function	Protein binding	IPI	25416956, 28514442, 31515488, 32296183, 33961781
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	ISS
GO:0005829	Component	Cytosol	TAS
GO:0006778	Process	Porphyrin-containing compound metabolic process	IDA	12071824
GO:0006778	Process	Porphyrin-containing compound metabolic process	IEA
GO:0006779	Process	Porphyrin-containing compound biosynthetic process	IEA
GO:0006782	Process	Protoporphyrinogen IX biosynthetic process	IDA	11069625
GO:0006782	Process	Protoporphyrinogen IX biosynthetic process	IEA
GO:0006783	Process	Heme biosynthetic process	IBA
GO:0006783	Process	Heme biosynthetic process	IC	18004775
GO:0006783	Process	Heme biosynthetic process	IEA
GO:0006783	Process	Heme biosynthetic process	IEA
GO:0006784	Process	Heme A biosynthetic process	IEA
GO:0006785	Process	Heme B biosynthetic process	IDA	11069625
GO:0006785	Process	Heme B biosynthetic process	IEA
GO:0006787	Process	Porphyrin-containing compound catabolic process	IDA	11069625, 11719352, 14633982, 21668429
GO:0016829	Function	Lyase activity	IEA
GO:0016831	Function	Carboxy-lyase activity	IEA
GO:0042168	Process	Heme metabolic process	IEA
GO:0048034	Process	Heme O biosynthetic process	IEA

MIM	HGNC	e!Ensembl
613521	12591	ENSG00000126088

Protein

UniProt ID

P06132

Protein name

Uroporphyrinogen decarboxylase (UPD) (URO-D) (EC 4.1.1.37)

Protein function

Catalyzes the sequential decarboxylation of the four acetate side chains of uroporphyrinogen to form coproporphyrinogen and participates in the fifth step in the heme biosynthetic pathway (PubMed:11069625, PubMed:11719352, PubMed:14633982, PubMe

PDB

1JPH , 1JPI , 1JPK , 1R3Q , 1R3R , 1R3S , 1R3T , 1R3V , 1R3W , 1R3Y , 1URO , 2Q6Z , 2Q71 , 3GVQ , 3GVR , 3GVV , 3GVW , 3GW0 , 3GW3

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01208	URO-D	14 → 360	Uroporphyrinogen decarboxylase (URO-D)	Domain

Sequence

MEANGLGPQGFPELKNDTFLRAAWGEETDYTPVWCMRQAGRYLPEFRETRAAQDFFSTCR
SPEACCELTLQPLRRFPLDAAIIFSDILVVPQALGMEVTMVPGKGPSFPEPLREEQDLER
LRDPEVVASELGYVFQAITLTRQRLAGRVPLIGFAGAPWTLMTYMVEGGGSSTMAQAKRW
LYQRPQASHQLLRILTDALVPYLVGQVVAGAQALQLFESHAGHLGPQLFNKFALPYIRDV
AKQVKARLREAGLAPVPMIIFAKDGHFALEELAQAGYEVVGLDWTVAPKKARECVGKTVT
LQGNLDPCALYASEEEIGQLVKQMLDDFGPHRYIANLGHGLYPDMDPEHVGAFVDAVHKH
SRLLRQN

Sequence length

367

Interactions

View interactions

	KEGG		Reactome
	Porphyrin metabolism Metabolic pathways Biosynthesis of cofactors		Heme biosynthesis

Show/Hide Causal Diseases (2)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Hepatoerythropoietic Porphyria	hepatoerythropoietic porphyria	rs121918059, rs121918060, rs121918057	N/A
Porphyria Cutanea Tarda	porphyria cutanea tarda, familial porphyria cutanea tarda	rs397514765, rs121918057, rs143823335, rs145195562, rs1569967143, rs121918062, rs121918063, rs121918064, rs121918065, rs397514764	N/A

Show/Hide Text Mining Associations (15)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Appendicitis	Associate	30918467
Carcinoma Hepatocellular	Associate	37166013
COVID 19	Associate	38145047
Diabetes Mellitus Type 2	Associate	20957336
Genetic Diseases Inborn	Associate	2243121, 30514647
Hemochromatosis	Associate	12735639
Hypertrichosis	Associate	26789143
Inflammation	Associate	30918467
Neoplasms	Associate	37166013
Porphyria Cutanea Tarda	Associate	11069625, 11719352, 12735639, 19419417, 19656450, 20163457, 20957336, 21668429, 2243121, 24068123, 26317124, 2920211, 32045169, 37360939, 6375356, 7706766, 8176248, 8896428, 9792863 View all (4 more)
Porphyria Cutanea Tarda	Inhibit	1634232, 30514647, 8644733
Porphyria Hepatoerythropoietic	Associate	1634232, 20479301, 21668429, 26789143, 30514647, 6375356, 7706766, 8176248, 8644733, 8896428
Porphyria Hepatoerythropoietic	Inhibit	8644733
Porphyrias	Associate	8896428
Silver Russell Syndrome	Associate	26969265, 33482836

UROD (uroporphyrinogen decarboxylase)