InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: UROS

Summary

InnateDB Gene

IDBG-92867.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

UROS

Gene Name

uroporphyrinogen III synthase

Synonyms

UROIIIS

Species

Homo sapiens

Ensembl Gene

ENSG00000188690

Encoded Proteins

IDBP-92869

uroporphyrinogen III synthase

IDBP-92871

uroporphyrinogen III synthase

IDBP-92877

uroporphyrinogen III synthase

IDBP-92879

uroporphyrinogen III synthase

IDBP-386764

uroporphyrinogen III synthase

IDBP-807301

uroporphyrinogen III synthase

IDBP-807262

uroporphyrinogen III synthase

IDBP-807268

uroporphyrinogen III synthase

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

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]
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]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 10:125784980-125823248

Strand

Reverse strand

Band

q26.2

Transcripts

ENST00000368797	ENSP00000357787
ENST00000368786	ENSP00000357775
ENST00000368778	ENSP00000357767
ENST00000368774	ENSP00000357763
ENST00000420761	ENSP00000414833
ENST00000470483
ENST00000484541
ENST00000465577
ENST00000464267
ENST00000462490	ENSP00000478957
ENST00000616800	ENSP00000482520
ENST00000622016	ENSP00000483041

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.

Experimentally validated
Total	4 [view]
Protein-Protein	3 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004852	uroporphyrinogen-III synthase activity
GO:0048037	cofactor binding

Biological Process

GO:0006778	porphyrin-containing compound metabolic process
GO:0006779	porphyrin-containing compound biosynthetic process
GO:0006780	uroporphyrinogen III biosynthetic process
GO:0006782	protoporphyrinogen IX biosynthetic process
GO:0006783	heme biosynthetic process
GO:0033014	tetrapyrrole biosynthetic process
GO:0044281	small molecule metabolic process
GO:0046677	response to antibiotic
GO:0071243	cellular response to arsenic-containing substance
GO:0071418	cellular response to amine stimulus

Cellular Component

GO:0005739	mitochondrion
GO:0005829	cytosol

Orthologs

Species

Mus musculus

Bos taurus

Gene ID

Gene Order

ENSMUSG00000030979

View Gene Order

ENSBTAG00000005791

Not yet available

Pathways

NETPATH

REACTOME

REACT_9465

Heme biosynthesis pathway

REACT_9431

Metabolism of porphyrins pathway

REACT_111217

Metabolism pathway

KEGG

hsa00860

Porphyrin and chlorophyll metabolism pathway

INOH

INOH website

Porphyrin metabolism pathway

PID NCI

Cross-References

SwissProt

P10746

TrEMBL

Q5T3L7 Q5T3L8 Q5T3L9

UniProt Splice Variant

Entrez Gene

7390

UniGene

RefSeq

NM_000375 XM_005270141

HUGO

HGNC:12592

OMIM

606938

CCDS

CCDS7648

HPRD

IMGT

EMBL

AF230665 AH010036 AK314896 AL360176 BC002573 CH471066 J03824

GenPept

AAA60273 AAG36794 AAG36795 AAH02573 BAG37410 CAI12087 EAW49221 EAW49222 EAW49224 EAW49229

RNA Seq Atlas

7390