• Gene id: 7390

Gene Summary

• Gene Symbol: UROS   Gene   UCSC   Ensembl
• Aliases: UROIIIS
• Gene name: uroporphyrinogen III synthase
• Alternate names: uroporphyrinogen-III synthase, hydroxymethylbilane hydrolyase, uroporphyrinogen-III cosynthase,
• Gene location: 10q26.2 (125823279: 125784979)     Exons: 17     NC_000010.11
• Gene summary(Entrez): The protein encoded by this gene catalyzes the fourth step of porphyrin biosynthesis in the heme biosynthetic pathway. Defects in this gene cause congenital erythropoietic porphyria (Gunther's disease). [provided by RefSeq, Jul 2008]
• OMIM: 601845

Protein Summary

• Protein general information: P10746  
  • Name: Uroporphyrinogen III synthase (UROIIIS) (UROS) (EC 4.2.1.75) (Hydroxymethylbilane hydrolyase [cyclizing]) (Uroporphyrinogen III cosynthase)
  • Length: 265  
  • Mass: 28628
  • Tissue specificity: Ubiquitous. {ECO
• Sequence:

  MKVLLLKDAKEDDCGQDPYIRELGLYGLEATLIPVLSFEFLSLPSFSEKLSHPEDYGGLIFTSPRAVEAAELCLE
  QNNKTEVWERSLKEKWNAKSVYVVGNATASLVSKIGLDTEGETCGNAEKLAEYICSRESSALPLLFPCGNLKREI
  LPKALKDKGIAMESITVYQTVAHPGIQGNLNSYYSQQGVPASITFFSPSGLTYSLKHIQELSGDNIDQIKFAAIG
  PTTARALAAQGLPVSCTAESPTPQALATGIRKALQPHGCC

• Structural information:
  • Interpro: IPR036108  IPR003754  IPR039793  
  • CDD: cd06578
  • PDB: 1JR2
  • PDBsum: 1JR2
  • STRING: ENSP00000357787
• Other Databases: GeneCards:  UROS  Malacards:  UROS

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004852	uroporphyrinogen-III synthase activity	IBA	molecular function
GO:0006783	heme biosynthetic process	IBA	biological process
GO:0006780	uroporphyrinogen III biosynthetic process	IBA	biological process
GO:0006780	uroporphyrinogen III biosynthetic process	IEA	biological process
GO:0004852	uroporphyrinogen-III synthase activity	IEA	molecular function
GO:0033014	tetrapyrrole biosynthetic process	IEA	biological process
GO:0006779	porphyrin-containing compound biosynthetic process	IEA	biological process
GO:0016829	lyase activity	IEA	molecular function
GO:0006783	heme biosynthetic process	IEA	biological process
GO:0004852	uroporphyrinogen-III synthase activity	IEA	molecular function
GO:0004852	uroporphyrinogen-III synthase activity	TAS	molecular function
GO:0006783	heme biosynthetic process	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0046677	response to antibiotic	IEA	biological process
GO:0006780	uroporphyrinogen III biosynthetic process	IEA	biological process
GO:0005829	cytosol	IEA	cellular component
GO:0006779	porphyrin-containing compound biosynthetic process	IEA	biological process
GO:0071418	cellular response to amine stimulus	IEA	biological process
GO:0071243	cellular response to arsenic-containing substance	IEA	biological process
GO:0070541	response to platinum ion	IEA	biological process
GO:0004852	uroporphyrinogen-III synthase activity	IEA	molecular function
GO:0004852	uroporphyrinogen-III synthase activity	IEA	molecular function
GO:0006782	protoporphyrinogen IX biosynthetic process	IEA	biological process
GO:0006780	uroporphyrinogen III biosynthetic process	IDA	biological process
GO:0006780	uroporphyrinogen III biosynthetic process	IDA	biological process
GO:0006783	heme biosynthetic process	IC	biological process
GO:0004852	uroporphyrinogen-III synthase activity	IDA	molecular function
GO:0004852	uroporphyrinogen-III synthase activity	IDA	molecular function
GO:0006780	uroporphyrinogen III biosynthetic process	IDA	biological process
GO:0006783	heme biosynthetic process	IDA	biological process
GO:0004852	uroporphyrinogen-III synthase activity	IDA	molecular function
GO:0005829	cytosol	NAS	cellular component
GO:0005739	mitochondrion	ISS	cellular component

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
Porphyria	KEGG:H01763
Erythropoietic porphyria	KEGG:H00201
cutaneous porphyria	PMID:2331520
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881