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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	7390
Gene name	Uroporphyrinogen III synthase
Gene symbol	UROS
Synonyms (NCBI Gene)	MguUROIIIS
Chromosome	10
Chromosome location	10q26.2
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]

Show/Hide all (19)

SNP ID	Visualize variation	Clinical significance	Consequence
rs28941774	G>A	Pathogenic	Intron variant, coding sequence variant, missense variant, non coding transcript variant
rs28941775	T>C	Pathogenic	Intron variant, coding sequence variant, missense variant, non coding transcript variant
rs121908012	A>C,G	Pathogenic	Intron variant, missense variant, non coding transcript variant, coding sequence variant
rs121908013	G>A	Pathogenic	Intron variant, missense variant, non coding transcript variant, coding sequence variant
rs121908014	G>A	Pathogenic	Genic downstream transcript variant, missense variant, non coding transcript variant, coding sequence variant, intron variant
rs121908015	G>A	Pathogenic	Intron variant, missense variant, non coding transcript variant, coding sequence variant
rs121908017	C>A,T	Pathogenic	Genic downstream transcript variant, missense variant, non coding transcript variant, coding sequence variant
rs121908018	T>A	Pathogenic	Intron variant, missense variant, non coding transcript variant, coding sequence variant
rs121908020	C>T	Pathogenic	Genic downstream transcript variant, missense variant, non coding transcript variant, coding sequence variant, intron variant
rs121908021	G>T	Pathogenic	Genic downstream transcript variant, missense variant, non coding transcript variant, coding sequence variant, intron variant
rs373864821	C>T	Pathogenic	Splice donor variant, intron variant
rs397515349	C>T	Pathogenic	Intron variant
rs397515350	G>T	Pathogenic	Intron variant
rs397515351	G>T	Pathogenic	Intron variant
rs397515527	A>G	Pathogenic	Coding sequence variant, non coding transcript variant, intron variant, missense variant
rs397515528	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs750180293	A>C	Pathogenic	Genic downstream transcript variant, intron variant
rs796051859	->C	Pathogenic	Coding sequence variant, intron variant, genic downstream transcript variant, non coding transcript variant, splice acceptor variant
rs1590007244	T>C	Pathogenic	Coding sequence variant, intron variant, non coding transcript variant, missense variant

Show/Hide all (35)

miRTarBase ID	miRNA	Experiments	Reference
MIRT038712	hsa-miR-29b-2-5p	CLASH	23622248
MIRT038712	hsa-miR-29b-2-5p	CLASH	23622248
MIRT665541	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT665540	hsa-miR-6736-3p	HITS-CLIP	23824327
MIRT665539	hsa-miR-221-5p	HITS-CLIP	23824327
MIRT665538	hsa-miR-8073	HITS-CLIP	23824327
MIRT665537	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT665536	hsa-miR-6787-3p	HITS-CLIP	23824327
MIRT665535	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT665534	hsa-miR-4695-3p	HITS-CLIP	23824327
MIRT665534	hsa-miR-4695-3p	PAR-CLIP	27292025
MIRT665536	hsa-miR-6787-3p	PAR-CLIP	27292025
MIRT665541	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT665540	hsa-miR-6736-3p	HITS-CLIP	23824327
MIRT665539	hsa-miR-221-5p	HITS-CLIP	23824327
MIRT665538	hsa-miR-8073	HITS-CLIP	23824327
MIRT665537	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT665536	hsa-miR-6787-3p	HITS-CLIP	23824327
MIRT665535	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT665534	hsa-miR-4695-3p	HITS-CLIP	23824327
MIRT1477097	hsa-miR-1285	CLIP-seq
MIRT1477098	hsa-miR-3074-5p	CLIP-seq
MIRT1477099	hsa-miR-3187-5p	CLIP-seq
MIRT1477100	hsa-miR-3667-3p	CLIP-seq
MIRT1477101	hsa-miR-370	CLIP-seq
MIRT1477102	hsa-miR-4731-5p	CLIP-seq
MIRT1477103	hsa-miR-612	CLIP-seq
MIRT1477104	hsa-miR-617	CLIP-seq
MIRT2364002	hsa-miR-2115	CLIP-seq
MIRT2364003	hsa-miR-320e	CLIP-seq
MIRT2364004	hsa-miR-3616-3p	CLIP-seq
MIRT2364005	hsa-miR-3692	CLIP-seq
MIRT2364006	hsa-miR-4436b-3p	CLIP-seq
MIRT2364007	hsa-miR-4503	CLIP-seq
MIRT2364008	hsa-miR-4704-3p	CLIP-seq

Show/Hide all (34)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004852	Function	Uroporphyrinogen-III synthase activity	IBA
GO:0004852	Function	Uroporphyrinogen-III synthase activity	IDA	3174619, 3805019, 18004775
GO:0004852	Function	Uroporphyrinogen-III synthase activity	IEA
GO:0004852	Function	Uroporphyrinogen-III synthase activity	IEA
GO:0004852	Function	Uroporphyrinogen-III synthase activity	TAS
GO:0005542	Function	Folic acid binding	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	ISS
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	ISS
GO:0005829	Component	Cytosol	NAS	3805019
GO:0005829	Component	Cytosol	TAS
GO:0006779	Process	Porphyrin-containing compound biosynthetic process	IEA
GO:0006779	Process	Porphyrin-containing compound biosynthetic process	IEA
GO:0006780	Process	Uroporphyrinogen III biosynthetic process	IBA
GO:0006780	Process	Uroporphyrinogen III biosynthetic process	IDA	3174619, 3805019, 18004775
GO:0006780	Process	Uroporphyrinogen III biosynthetic process	IEA
GO:0006782	Process	Protoporphyrinogen IX biosynthetic process	IDA	18004775
GO:0006782	Process	Protoporphyrinogen IX biosynthetic process	IEA
GO:0006783	Process	Heme biosynthetic process	IC	18004775
GO:0006783	Process	Heme biosynthetic process	IDA	3805019
GO:0006783	Process	Heme biosynthetic process	IEA
GO:0006783	Process	Heme biosynthetic process	TAS
GO:0006784	Process	Heme A biosynthetic process	IEA
GO:0006785	Process	Heme B biosynthetic process	IDA	18004775
GO:0006785	Process	Heme B biosynthetic process	IEA
GO:0016829	Function	Lyase activity	IEA
GO:0033014	Process	Tetrapyrrole biosynthetic process	IEA
GO:0048034	Process	Heme O biosynthetic process	IEA
GO:0070541	Process	Response to platinum ion	IEA
GO:0071243	Process	Cellular response to arsenic-containing substance	IEA
GO:0071418	Process	Cellular response to amine stimulus	IEA

MIM	HGNC	e!Ensembl
606938	12592	ENSG00000188690

P10746

Protein name

Uroporphyrinogen-III synthase (UROIIIS) (UROS) (EC 4.2.1.75) (Hydroxymethylbilane hydrolyase [cyclizing]) (Uroporphyrinogen-III cosynthase)

Protein function

Catalyzes cyclization of the linear tetrapyrrole, hydroxymethylbilane, to the macrocyclic uroporphyrinogen III, the branch point for the various sub-pathways leading to the wide diversity of porphyrins (PubMed:11689424, PubMed:18004775). Porphyr

PDB

1JR2

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02602	HEM4	17 → 253	Uroporphyrinogen-III synthase HemD	Family

Tissue specificity

TISSUE SPECIFICITY: Ubiquitous. {ECO:0000269|PubMed:11112350}.

Sequence

MKVLLLKDAKEDDCGQDPYIRELGLYGLEATLIPVLSFEFLSLPSFSEKLSHPEDYGGLI
FTSPRAVEAAELCLEQNNKTEVWERSLKEKWNAKSVYVVGNATASLVSKIGLDTEGETCG
NAEKLAEYICSRESSALPLLFPCGNLKREILPKALKDKGIAMESITVYQTVAHPGIQGNL
NSYYSQQGVPASITFFSPSGLTYSLKHIQELSGDNIDQIKFAAIGPTTARALAAQGLPVS
CTAESPTPQALATGIRKALQPHGCC

Sequence length

265

Interactions

View interactions

	KEGG		Reactome
	Porphyrin metabolism Metabolic pathways Biosynthesis of cofactors		Heme biosynthesis

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Cutaneous porphyria	Likely pathogenic; Pathogenic	rs773301339, rs121908012, rs121908013, rs28941774, rs28941775, rs121908015, rs121908017, rs121908018, rs1554891988, rs397515349, rs397515350, rs397515351, rs121908020, rs373864821, rs796051859 View all (4 more)	RCV003314006 RCV000003948 RCV000003949 RCV000003950 RCV000003951 View all (15 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
UROS-related disorder	Pathogenic; Likely pathogenic	rs121908012, rs121908015, rs373864821	RCV004754240 RCV004754241 RCV003407268	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (14)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Cervical cancer	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL ERYTHROPOIETIC PORPHYRIA	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PORPHYRIA, CONGENITAL ERYTHROPOIETIC	—	HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PORPHYRIA, ERYTHROPOIETIC	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PORPHYRIA, ERYTHROPOIETIC, CONGENITAL	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (41)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Absent eyebrow	Absent eyebrow	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia, Hemolytic	Anemia	BEFREE	22795135, 24145442, 28334762		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia, Hemolytic	Anemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholelithiasis	Cholelithiasis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital erythropoietic porphyria	Congenital Erythropoietic Porphyria	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Conjunctivitis	Conjunctivitis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Deficiency of Uroporphyrinogen III Synthase	Deficiency Of Uroporphyrinogen III Synthase	BEFREE	28334762		★★★★★ ★☆☆☆☆ Found in Text Mining only
Deficiency of Uroporphyrinogen III Synthase	Deficiency Of Uroporphyrinogen III Synthase	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Disorders of Porphyrin Metabolism	Porphyria	BEFREE	27086902, 30706587		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ectropion	Ectropion	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Erythropoietic Protoporphyria	Erythropoietic Protoporphyria	BEFREE	30454868		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	28378523		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	28378523		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	27898674	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydrops Fetalis, Non-Immune	Hydrops Fetalis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertrichosis	HYPERTRICHOSIS	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypopigmentation disorder	Hypopigmentation Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Inborn Errors of Metabolism	Inborn Errors Of Metabolism	BEFREE	17270473, 8829650		★★★★★ ★☆☆☆☆ Found in Text Mining only
Keratoconjunctivitis	Keratoconjunctivitis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	28865079		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	7888667		★★★★★ ★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	27086902		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Porphyria Cutanea Tarda	Porphyria Cutanea Tarda	BEFREE	19268003		★★★★★ ★☆☆☆☆ Found in Text Mining only
Porphyria Erythropoietic	Porphyria	Pubtator	11254675, 11886534, 12060141, 15304101, 17148589, 17298225, 1737856, 19965637, 21343304, 21653323, 22766189, 22795135, 2331520, 32795423, 36217751, 7860775, 7888667, 8621830, 9834209 View all (4 more)	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Porphyria Erythropoietic	Porphyria	Pubtator	9799113	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Porphyria, Erythropoietic	Congenital erythropoietic porphyria	UNIPROT_DG	11121156, 11689424, 12060141, 15304101, 1733834, 1737856, 21653323, 22350154, 2331520, 7860775, 8655129, 9188670, 9803266, 9834209		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Porphyria, Erythropoietic	Congenital erythropoietic porphyria	BEFREE	11254675, 11273784, 12060141, 12721665, 15703981, 16532394, 17148589, 17270473, 17298225, 1733834, 1737856, 19099412, 19268003, 19934113, 19965637 View all (34 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Porphyria, Erythropoietic	Congenital erythropoietic porphyria	GENOMICS_ENGLAND_DG	12533808, 2331520, 27604308		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Porphyria, Erythropoietic	Congenital erythropoietic porphyria	CLINVAR_DG	1733834, 1737856, 21343304, 21365124, 2331520, 7860775, 9803266		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Porphyria, Erythropoietic	Congenital erythropoietic porphyria	LHGDN	19099412		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Porphyria, Erythropoietic	Congenital erythropoietic porphyria	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Porphyrias	Porphyria	Pubtator	32795423	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Protoporphyria Erythropoietic	Erythropoietic protoporphyria	Pubtator	11886534	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Recurrent erosion of cornea	Erosion Of Cornea	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Scleroderma	Scleroderma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Skin lesion	Skin Lesion	BEFREE	22795135		★★★★★ ★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

UROS (uroporphyrinogen III synthase)