UROD (uroporphyrinogen decarboxylase)

Gene

• Entrez ID: 7389
• Gene name: Uroporphyrinogen decarboxylase
• Gene symbol: UROD
• Synonyms: PCT, UPD
• Chromosome: 1
• Chromosome location: 1p34.1
• Summary: 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

SNPs

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

miRNA

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

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004853	Function	Uroporphyrinogen decarboxylase activity	IBA	21873635
GO:0004853	Function	Uroporphyrinogen decarboxylase activity	IDA	18004775
GO:0005515	Function	Protein binding	IPI	25416956, 31515488, 32296183
GO:0005654	Component	Nucleoplasm	IDA
GO:0005829	Component	Cytosol	IBA	21873635
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0006782	Process	Protoporphyrinogen IX biosynthetic process	IEA
GO:0006783	Process	Heme biosynthetic process	IBA	21873635
GO:0006783	Process	Heme biosynthetic process	IC	18004775
GO:0006783	Process	Heme biosynthetic process	TAS

Other IDs

• MIM: 613521
• HGNC: 12591
• e!Ensembl: 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

Pathways

KEGG:

Porphyrin metabolism
Metabolic pathways
Biosynthesis of cofactors

Reactome:

Heme biosynthesis

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Anemia	Anemia, Hemolytic	rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966, rs137853122, rs137853123, rs786205060, rs267607121, rs121908584, rs80338697, rs80338699, rs120074166, rs120074167, rs1050828, rs74575103, rs137852314, rs5030868, rs137852316, rs137852317, rs137852318, rs137852319, rs137852320, rs137852321, rs137852322, rs137852323, rs137852324, rs72554665, rs387906468, rs5030872, rs137852326, rs137852333, rs137852327, rs137852328, rs137852329, rs137852330, rs137852331, rs137852332, rs137852334, rs137852335, rs137852336, rs137852339, rs76645461, rs137852340, rs137852341, rs78478128, rs137852343, rs137852344, rs137852345, rs587776730, rs137852346, rs137852347, rs137852349, rs2070404412, rs2070350038, rs2070350009, rs137852303, rs137852304, rs33946267, rs34378160, rs33933298, rs11549407, rs35724775, rs34598529, rs41469945, rs267607201, rs80338694, rs80338696, rs387907018, rs398123546, rs78365220, rs587777100, rs587777101, rs483352840, rs869312752, rs765487627, rs1557229599, rs1557230040, rs1555524842, rs782090947, rs1358275550, rs1557229736, rs1557230573, rs1556323334, rs1233124208, rs1293528130, rs146864395, rs1595503440, rs1603411214, rs137852325, rs1575247302, rs1603411177, rs1336651679, rs782322505
Hepatoerythropoietic porphyria	Hepatoerythropoietic Porphyria	rs121918057, rs121918059, rs121918060	21668429, 17240319
Leukemia	Leukemia, Myelocytic, Acute	rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297, rs11978267, rs4132601	27903959
Porphyria cutanea tarda	Porphyria Cutanea Tarda, Familial porphyria cutanea tarda, Porphyria Cutanea Tarda, Type I	rs121918057, rs145195562, rs121918062, rs121918063, rs121918064, rs121918065, rs397514764, rs397514765, rs143823335, rs1569967143	8176248, 12071824, 9792863, 8896428, 2243121, 1634232, 8644733, 15491440, 11719352, 12030801, 17240319, 10477430, 11069625, 7706766, 2920211, 3775362, 1905636, 17360334, 10338097, 11295834, 21668429, 19233912, 23545314

Unknown
Disease name	Disease term	dbSNP ID	References
Alopecia	Alopecia
Cirrhosis	Cirrhosis	rs119465999, rs144369314, rs8056684, rs112053857, rs75998507
Head and neck neoplasms	Head and Neck Neoplasms		21270338
Head neoplasms	Head Neoplasms		21270338
Neck cancer	Cancer of Neck		21270338
Neoplasm of head	Cancer of Head		21270338
Liver carcinoma	Liver carcinoma
Head and neck cancer	Malignant Head and Neck Neoplasm	rs762384959, rs16879870, rs2761591, rs2641256, rs854936	21270338
Neck neoplasms	Neck Neoplasms		21270338
Onycholysis	Onycholysis
Scleroderma	Scleroderma, Systemic Scleroderma
Upper aerodigestive tract neoplasms	Upper Aerodigestive Tract Neoplasms		21270338