• Gene id: 7389

Gene Summary

• Gene Symbol: UROD   Gene   UCSC   Ensembl
• Aliases: PCT, UPD
• Gene name: uroporphyrinogen decarboxylase
• Alternate names: uroporphyrinogen decarboxylase, uroporphyrinogen III decarboxylase,
• Gene location: 1p34.1 (150865678: 151101886)     Exons: 42     NC_000006.12
• Gene summary(Entrez): 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
• OMIM: 613521

Protein Summary

• Protein general information: P06132  
  • Name: Uroporphyrinogen decarboxylase (UPD) (URO D) (EC 4.1.1.37)
  • Length: 367  
  • Mass: 40787
• Sequence:

  MEANGLGPQGFPELKNDTFLRAAWGEETDYTPVWCMRQAGRYLPEFRETRAAQDFFSTCRSPEACCELTLQPLRR
  FPLDAAIIFSDILVVPQALGMEVTMVPGKGPSFPEPLREEQDLERLRDPEVVASELGYVFQAITLTRQRLAGRVP
  LIGFAGAPWTLMTYMVEGGGSSTMAQAKRWLYQRPQASHQLLRILTDALVPYLVGQVVAGAQALQLFESHAGHLG
  PQLFNKFALPYIRDVAKQVKARLREAGLAPVPMIIFAKDGHFALEELAQAGYEVVGLDWTVAPKKARECVGKTVT
  LQGNLDPCALYASEEEIGQLVKQMLDDFGPHRYIANLGHGLYPDMDPEHVGAFVDAVHKHSRLLRQN

• Structural information:
  • Interpro: IPR038071  IPR006361  IPR000257  
  • Prosite: PS00906 PS00907
  • CDD: cd00717
  • PDB: 1JPH 1JPI 1JPK 1R3Q 1R3R 1R3S 1R3T 1R3V 1R3W 1R3Y 1URO 2Q6Z 2Q71 3GVQ 3GVR 3GVV 3GVW 3GW0 3GW3
  • PDBsum: 1JPH 1JPI 1JPK 1R3Q 1R3R 1R3S 1R3T 1R3V 1R3W 1R3Y 1URO 2Q6Z 2Q71 3GVQ 3GVR 3GVV 3GVW 3GW0 3GW3
  • STRING: ENSP00000246337
• Other Databases: GeneCards:  UROD  Malacards:  UROD

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005829	cytosol	IBA	cellular component
GO:0004853	uroporphyrinogen decarboxylase activity	IBA	molecular function
GO:0006783	heme biosynthetic process	IBA	biological process
GO:0006779	porphyrin-containing compound biosynthetic process	IEA	biological process
GO:0004853	uroporphyrinogen decarboxylase activity	IEA	molecular function
GO:0016829	lyase activity	IEA	molecular function
GO:0016831	carboxy-lyase activity	IEA	molecular function
GO:0006779	porphyrin-containing compound biosynthetic process	IEA	biological process
GO:0006783	heme biosynthetic process	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0004853	uroporphyrinogen decarboxylase activity	TAS	molecular function
GO:0004853	uroporphyrinogen decarboxylase activity	IEA	molecular function
GO:0006783	heme biosynthetic process	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0042168	heme metabolic process	IEA	biological process
GO:0005829	cytosol	IEA	cellular component
GO:0006783	heme biosynthetic process	IEA	biological process
GO:0004853	uroporphyrinogen decarboxylase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0006782	protoporphyrinogen IX biosynthetic process	IEA	biological process
GO:0006783	heme biosynthetic process	IC	biological process
GO:0004853	uroporphyrinogen decarboxylase activity	IDA	molecular function

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00860	Porphyrin and chlorophyll metabolism

Diseases

Associated diseases	References
Porphyria	KEGG:H01763
Erythropoietic porphyria	KEGG:H00201
Hepatic porphyria	KEGG:H00202
Porphyria	KEGG:H01763
Erythropoietic porphyria	KEGG:H00201
Hepatic porphyria	KEGG:H00202
Breast cancer	PMID:2276414
Porphyria cutanea tarda	PMID:661926
Porphyria cutanea tarda	PMID:2920211
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)