Free for academic non-profit institutions. Other users need a Commercial license

Aliases for UROS Gene

Aliases for UROS Gene

  • Uroporphyrinogen III Synthase 2 3 5
  • Uroporphyrinogen-III Cosynthase 3 4
  • UROIIIS 3 4
  • Hydroxymethylbilane Hydrolyase [Cyclizing] 4
  • Congenital Erythropoietic Porphyria 2
  • Hydroxymethylbilane Hydrolyase 3
  • Uroporphyrinogen-III Synthase 3
  • EC 4

External Ids for UROS Gene

Previous GeneCards Identifiers for UROS Gene

  • GC10M126452
  • GC10M126680
  • GC10M127514
  • GC10M127051
  • GC10M127467
  • GC10M121166

Summaries for UROS Gene

Entrez Gene Summary for UROS Gene

  • 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]

GeneCards Summary for UROS Gene

UROS (Uroporphyrinogen III Synthase) is a Protein Coding gene. Diseases associated with UROS include Porphyria, Congenital Erythropoietic and Porphyria. Among its related pathways are Metabolism and Porphyrin and chlorophyll metabolism. GO annotations related to this gene include cofactor binding and uroporphyrinogen-III synthase activity.

UniProtKB/Swiss-Prot for UROS Gene

  • 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. Porphyrins act as cofactors for a multitude of enzymes that perform a variety of processes within the cell such as methionine synthesis (vitamin B12) or oxygen transport (heme).

Additional gene information for UROS Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for UROS Gene

Genomics for UROS Gene

Regulatory Elements for UROS Gene

Enhancers for UROS Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH10H125878 1.4 Ensembl ENCODE dbSUPER 36.2 -56.9 -56914 3.9 FOXA2 INSM2 FEZF1 RFX5 ZNF121 ZNF366 FOS ZNF362 CEBPB OVOL3 UROS MMP21 GC10P125883 GC10P125882 ENSG00000277371
GH10H125820 0.5 dbSUPER 48.4 +2.7 2705 1.1 GLIS1 HMBOX1 EBF1 UROS MIR4484
GH10H125850 0.4 ENCODE 46.3 -27.9 -27913 1.4 SCRT1 SCRT2 UROS BCCIP EDRF1 MMP21 ENSG00000277371
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around UROS on UCSC Golden Path with GeneCards custom track

Genomic Locations for UROS Gene

Genomic Locations for UROS Gene
38,289 bases
Minus strand

Genomic View for UROS Gene

Genes around UROS on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
UROS Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for UROS Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for UROS Gene

Proteins for UROS Gene

  • Protein details for UROS Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Uroporphyrinogen-III synthase
    Protein Accession:
    Secondary Accessions:
    • B2RC13
    • D3DRF7
    • Q9H2T1

    Protein attributes for UROS Gene

    265 amino acids
    Molecular mass:
    28628 Da
    Quaternary structure:
    • Monomer.

    Three dimensional structures from OCA and Proteopedia for UROS Gene

neXtProt entry for UROS Gene

Post-translational modifications for UROS Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for UROS Gene

Domains & Families for UROS Gene

Gene Families for UROS Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for UROS Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the uroporphyrinogen-III synthase family.
  • Belongs to the uroporphyrinogen-III synthase family.
genes like me logo Genes that share domains with UROS: view

Function for UROS Gene

Molecular function for UROS Gene

GENATLAS Biochemistry:
uroporphyrinogen III synthase,cytosolic,catalyzing the fourth step of porphyrin biosynthesis
UniProtKB/Swiss-Prot CatalyticActivity:
Hydroxymethylbilane = uroporphyrinogen III + H(2)O.
UniProtKB/Swiss-Prot 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. Porphyrins act as cofactors for a multitude of enzymes that perform a variety of processes within the cell such as methionine synthesis (vitamin B12) or oxygen transport (heme).

Enzyme Numbers (IUBMB) for UROS Gene

Gene Ontology (GO) - Molecular Function for UROS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004852 uroporphyrinogen-III synthase activity TAS --
GO:0016829 lyase activity IEA --
GO:0048037 cofactor binding IEA --
genes like me logo Genes that share ontologies with UROS: view
genes like me logo Genes that share phenotypes with UROS: view

Human Phenotype Ontology for UROS Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for UROS Gene

MGI Knock Outs for UROS:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Phenotypes From GWAS Catalog , Transcription Factor Targets and HOMER Transcription for UROS Gene

Localization for UROS Gene

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for UROS gene
Compartment Confidence
cytosol 5
mitochondrion 4
nucleus 3
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for UROS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion ISS --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with UROS: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for UROS Gene

Pathways & Interactions for UROS Gene

genes like me logo Genes that share pathways with UROS: view

Pathways by source for UROS Gene

UniProtKB/Swiss-Prot P10746-HEM4_HUMAN

  • Pathway: Porphyrin-containing compound metabolism; protoporphyrin-IX biosynthesis; coproporphyrinogen-III from 5-aminolevulinate: step 3/4.

Gene Ontology (GO) - Biological Process for UROS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006779 porphyrin-containing compound biosynthetic process IEA --
GO:0006780 uroporphyrinogen III biosynthetic process IDA 3174619
GO:0006782 protoporphyrinogen IX biosynthetic process IEA --
GO:0006783 heme biosynthetic process TAS --
GO:0033014 tetrapyrrole biosynthetic process IEA --
genes like me logo Genes that share ontologies with UROS: view

No data available for SIGNOR curated interactions for UROS Gene

Drugs & Compounds for UROS Gene

(9) Drugs for UROS Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Water Approved Pharma 0
Coproporphyrinogen III Experimental Pharma 0
heme Pharma Agonist 0

(8) Additional Compounds for UROS Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • 3,8,13,18-Tetrakis(carboxymethyl)-19-(hydroxymethyl)bilane-2,7,12,17-tetrapropanoate
  • 3,8,13,18-Tetrakis(carboxymethyl)-19-(hydroxymethyl)bilane-2,7,12,17-tetrapropanoic acid
  • 3,8,13,18-Tetrakis(carboxymethyl)-5,10,15,22,23,24-hexahydro-19-(hydroxymethyl)-21H-Biline-2,7,12,17-tetrapropanoate
  • 3,8,13,18-Tetrakis(carboxymethyl)-5,10,15,22,23,24-hexahydro-19-(hydroxymethyl)-21H-Biline-2,7,12,17-tetrapropanoic acid
  • 3-[2-[[4-(2-Carboxyethyl)-5-[[4-(2-carboxyethyl)-5-[[4-(2-carboxyethyl)-3-(carboxymethyl)-1H-pyrrol-2-yl]methyl]-3-(carboxymethyl)-1H-pyrrol-2-yl]methyl]-3-(carboxymethyl)-1H-pyrrol-2-yl]methyl]-4-(carboxymethyl)-5-(hydroxymethyl)-1H-pyrrol-3-yl]propanoate
  • Formyl coenzyme A
Uroporphyrinogen I
  • 3,8,13,18-Tetrakis(carboxymethyl)-5,10,15,20,22,24-hexahydro-(8CI)-2,7,12,17-Porphinetetrapropionate
  • 3,8,13,18-Tetrakis(carboxymethyl)-5,10,15,20,22,24-hexahydro-(8CI)-2,7,12,17-Porphinetetrapropionic acid
  • 3,8,13,18-Tetrakis(carboxymethyl)-5,10,15,20,22,24-hexahydro-21H,23H-Porphine-2,7,12,17-tetrapropanoate
  • 3,8,13,18-Tetrakis(carboxymethyl)-5,10,15,20,22,24-hexahydro-21H,23H-Porphine-2,7,12,17-tetrapropanoic acid
  • 3,8,13,18-Tetrakis(carboxymethyl)-5,10,15,20,22,24-hexahydroporphyrin-2,7,12,17-tetrapropanoate
Uroporphyrinogen III
  • 3,8,13,17-Tetrakis(carboxymethyl)-5,10,15,20,22,24-hexahydro-2,7,12,18-Porphinetetrapropionate
  • 3,8,13,17-Tetrakis(carboxymethyl)-5,10,15,20,22,24-hexahydro-2,7,12,18-Porphinetetrapropionic acid
  • 3,8,13,17-Tetrakis(carboxymethyl)-5,10,15,20,22,24-hexahydro-21H,23H-Porphine-2,7,12,18-tetrapropanoate
  • 3,8,13,17-Tetrakis(carboxymethyl)-5,10,15,20,22,24-hexahydro-21H,23H-Porphine-2,7,12,18-tetrapropanoic acid
  • 3,8,13,17-Tetrakis(carboxymethyl)-5,10,15,20,22,24-hexahydroporphyrin-2,7,12,18-tetrapropanoate
genes like me logo Genes that share compounds with UROS: view

Transcripts for UROS Gene

Unigene Clusters for UROS Gene

Uroporphyrinogen III synthase:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for UROS Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c · 2d ^ 3 ^ 4a · 4b · 4c · 4d ^ 5 ^ 6 ^ 7 ^ 8a · 8b · 8c ^ 9 ^ 10a · 10b ^ 11a · 11b ^ 12 ^ 13a · 13b ·
SP1: - - - - - - - - - -
SP2: - - - - - - - - -
SP3: - - - - - - - -
SP4: - - - - - - - - - -
SP5: - - - - - - - - - - - - - - - - -
SP6: - -
SP7: - - - - - -
SP8: - - - - - - - - - - -
SP9: - - -
SP10: - - - - - - -
SP11: - -
SP12: - -
SP13: - - - -
SP15: - - - - -

ExUns: 13c ^ 14a · 14b · 14c · 14d · 14e · 14f · 14g · 14h
SP1: -
SP2: -
SP4: -
SP5: -
SP8: -
SP15: -

Relevant External Links for UROS Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for UROS Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for UROS Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for UROS Gene

This gene is overexpressed in Heart (13.5) and Adrenal (12.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for UROS Gene

NURSA nuclear receptor signaling pathways regulating expression of UROS Gene:


SOURCE GeneReport for Unigene cluster for UROS Gene:


mRNA Expression by UniProt/SwissProt for UROS Gene:

Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for UROS Gene

  • Nervous system(4.7)
  • Liver(4.4)
  • Bone marrow(2.9)
  • Skin(2.4)
  • Urine(2.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for UROS Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • skeleton
  • urinary
Head and neck:
  • brain
  • eye
  • eyelid
  • face
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • skull
  • tooth
  • chest wall
  • clavicle
  • rib
  • rib cage
  • scapula
  • sternum
  • abdominal wall
  • biliary tract
  • gallbladder
  • kidney
  • liver
  • pancreas
  • spleen
  • pelvis
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
  • blood
  • bone marrow
  • coagulation system
  • hair
  • red blood cell
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with UROS: view

No data available for mRNA differential expression in normal tissues and Protein tissue co-expression partners for UROS Gene

Orthologs for UROS Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for UROS Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia UROS 33 34
  • 99.12 (n)
(Canis familiaris)
Mammalia UROS 33 34
  • 86.62 (n)
(Bos Taurus)
Mammalia UROS 33 34
  • 86.11 (n)
(Rattus norvegicus)
Mammalia Uros 33
  • 80.88 (n)
(Mus musculus)
Mammalia Uros 33 16 34
  • 80.38 (n)
(Monodelphis domestica)
Mammalia UROS 34
  • 70 (a)
(Ornithorhynchus anatinus)
Mammalia UROS 34
  • 57 (a)
(Gallus gallus)
Aves UROS 33 34
  • 70.2 (n)
(Anolis carolinensis)
Reptilia UROS 34
  • 68 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia uros 33
  • 63.7 (n)
(Danio rerio)
Actinopterygii uros 33 34
  • 58.3 (n)
Dr.24250 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008064 33
  • 46.98 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG1885 35 33 34
  • 45.2 (n)
CG9589 34
  • 26 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes HEM4 34 36
  • 24 (a)
Species where no ortholog for UROS was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for UROS Gene

Gene Tree for UROS (if available)
Gene Tree for UROS (if available)

Paralogs for UROS Gene

No data available for Paralogs for UROS Gene

Variants for UROS Gene

Sequence variations from dbSNP and Humsavar for UROS Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type
rs121908012 Pathogenic, Congenital erythropoietic porphyria (CEP) [MIM:263700] 125,815,061(-) AGTTA(C/T)GTTTG intron-variant, nc-transcript-variant, reference, missense
rs121908013 Pathogenic, Congenital erythropoietic porphyria (CEP) [MIM:263700] 125,815,120(-) TCATC(C/T)TGAAG intron-variant, nc-transcript-variant, reference, missense
rs121908014 Pathogenic, Congenital erythropoietic porphyria (CEP) [MIM:263700] 125,788,983(-) CACTA(C/T)GGCTC intron-variant, nc-transcript-variant, downstream-variant-500B, reference, missense
rs121908015 Pathogenic, Congenital erythropoietic porphyria (CEP) [MIM:263700] 125,816,490(-) AGGTT(C/T)TTTTA intron-variant, nc-transcript-variant, reference, missense
rs121908016 other, Congenital erythropoietic porphyria (CEP) [MIM:263700] 125,815,034(-) CTGAA(G/T)GTGAG intron-variant, nc-transcript-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for UROS Gene

Variant ID Type Subtype PubMed ID
esv2759788 CNV gain 17122850
esv33326 CNV gain 17666407
nsv428241 CNV loss 18775914
nsv832017 CNV loss 17160897
nsv8736 CNV loss 18304495

Variation tolerance for UROS Gene

Residual Variation Intolerance Score: 60.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.02; 37.20% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for UROS Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for UROS Gene

Disorders for UROS Gene

MalaCards: The human disease database

(15) MalaCards diseases for UROS Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
porphyria, congenital erythropoietic
  • congenital erythropoietic porphyria
  • disorder of porphyrin and hem metabolism
scleromalacia perforans
cutaneous porphyria
  • erythropoietic porphyria
protoporphyria, erythropoietic, autosomal recessive
  • erythropoietic protoporphyria
- elite association - COSMIC cancer census association via MalaCards
Search UROS in MalaCards View complete list of genes associated with diseases


  • Congenital erythropoietic porphyria (CEP) [MIM:263700]: Porphyrias are inherited defects in the biosynthesis of heme, resulting in the accumulation and increased excretion of porphyrins or porphyrin precursors. They are classified as erythropoietic or hepatic, depending on whether the enzyme deficiency occurs in red blood cells or in the liver. The manifestations of CEP are heterogeneous, ranging from nonimmune hydrops fetalis due to severe hemolytic anemia in utero to milder, later onset forms, which have only skin lesions due to cutaneous photosensitivity in adult life. The deficiency in UROS activity results in the non-enzymatic conversion of hydroxymethylbilane (HMB) into the uroporphyrinogen-I isomer. {ECO:0000269 PubMed:11121156, ECO:0000269 PubMed:11689424, ECO:0000269 PubMed:12060141, ECO:0000269 PubMed:15304101, ECO:0000269 PubMed:1733834, ECO:0000269 PubMed:1737856, ECO:0000269 PubMed:21653323, ECO:0000269 PubMed:22350154, ECO:0000269 PubMed:2331520, ECO:0000269 PubMed:7860775, ECO:0000269 PubMed:8655129, ECO:0000269 PubMed:9188670, ECO:0000269 PubMed:9803266, ECO:0000269 PubMed:9834209}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Note=Severe congenital erythropoietic porphyria is associated with non-immune hydrops fetalis, a generalized edema of the fetus with fluid accumulation in the body cavities due to non-immune causes. Non-immune hydrops fetalis is not a diagnosis in itself but a symptom, a feature of many genetic disorders, and the end-stage of a wide variety of disorders.

Genatlas disease for UROS Gene

porphyria congenita erythropoietic,Gunther disease

Relevant External Links for UROS

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with UROS: view

Publications for UROS Gene

  1. Congenital erythropoietic porphyria: report of a novel mutation with absence of clinical manifestations in a homozygous mutant sibling. (PMID: 15304101) Ged C … de Verneuil H (The Journal of investigative dermatology 2004) 3 4 22 60
  2. Crystal structure of human uroporphyrinogen III synthase. (PMID: 11689424) Mathews MA … Hill CP (The EMBO journal 2001) 3 4 22 60
  3. Human uroporphyrinogen-III synthase: genomic organization, alternative promoters, and erythroid-specific expression. (PMID: 11112350) Aizencang G … Desnick RJ (Genomics 2000) 3 4 22 60
  4. C73R is a hotspot mutation in the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria. (PMID: 9803266) Frank J … Christiano AM (Annals of human genetics 1998) 3 4 22 60
  5. Congenital erythropoietic porphyria successfully treated by allogeneic bone marrow transplantation. (PMID: 9834209) Tezcan I … Desnick RJ (Blood 1998) 3 4 22 60

Products for UROS Gene

Sources for UROS Gene

Loading form....