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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
  • EC 4.2.1.75 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).

No data available for 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 Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around UROS on UCSC Golden Path with GeneCards custom track

Promoters for UROS Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around UROS on UCSC Golden Path with GeneCards custom track

Genomic Location for UROS Gene

Chromosome:
10
Start:
125,784,980 bp from pter
End:
125,823,268 bp from pter
Size:
38,289 bases
Orientation:
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:
    P10746-HEM4_HUMAN
    Recommended name:
    Uroporphyrinogen-III synthase
    Protein Accession:
    P10746
    Secondary Accessions:
    • B2RC13
    • D3DRF7
    • Q9H2T1

    Protein attributes for UROS Gene

    Size:
    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

Proteomics data for UROS Gene at MOPED

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

Protein Domains for UROS Gene

Graphical View of Domain Structure for InterPro Entry

P10746

UniProtKB/Swiss-Prot:

HEM4_HUMAN :
  • Belongs to the uroporphyrinogen-III synthase family.
Family:
  • Belongs to the uroporphyrinogen-III synthase family.
genes like me logo Genes that share domains with UROS: view

No data available for Gene Families for UROS Gene

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: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

No data available for Transcription Factor Targets and HOMER Transcription for UROS Gene

Localization for UROS Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for UROS Gene COMPARTMENTS Subcellular localization image for UROS gene
Compartment Confidence
cytosol 5
mitochondrion 4
nucleus 3
peroxisome 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components 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

1 BioSystems pathway for UROS Gene
3 Reactome pathways 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:0006778 porphyrin-containing compound metabolic process TAS --
GO:0006780 uroporphyrinogen III biosynthetic process IDA 3174619
GO:0006783 heme biosynthetic process TAS --
GO:0033014 tetrapyrrole biosynthetic process IEA --
GO:0046677 response to antibiotic 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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
heme Pharma Agonist 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
hydroxymethylbilane
  • 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
73023-76-4
Coproporphyrinogen III
  • 3,8,13,17-Tetramethyl-5,10,15,20,22,24-hexahydroporphyrin-2,7,12,18-tetrapropanoate
  • 3,8,13,17-Tetramethyl-5,10,15,20,22,24-hexahydroporphyrin-2,7,12,18-tetrapropanoic acid
  • 5,10,15,20,22,24-Hexahydro-3,8,13,17-tetramethyl-2,7,12,18-Porphinetetrapropionate
  • 5,10,15,20,22,24-Hexahydro-3,8,13,17-tetramethyl-2,7,12,18-Porphinetetrapropionic acid
  • 5,10,15,20,22,24-Hexahydro-3,8,13,17-tetramethyl-21H,23H-Porphine-2,7,12,18-tetrapropanoate
2624-63-7
Formyl-CoA
  • Formyl coenzyme A
13131-49-2
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
1867-62-5
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
1976-85-8
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:

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: - - - -
SP14:
SP15: - - - - -

ExUns: 13c ^ 14a · 14b · 14c · 14d · 14e · 14f · 14g · 14h
SP1: -
SP2: -
SP3:
SP4: -
SP5: -
SP6:
SP7:
SP8: -
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15: -

Relevant External Links for UROS Gene

GeneLoc Exon Structure for
UROS
ECgene alternative splicing isoforms for
UROS

Expression for UROS Gene

mRNA expression in normal human tissues 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, MOPED, and MaxQB for UROS Gene



SOURCE GeneReport for Unigene cluster for UROS Gene Hs.501376

mRNA Expression by UniProt/SwissProt for UROS Gene

P10746-HEM4_HUMAN
Tissue specificity: Ubiquitous.
genes like me logo Genes that share expression patterns with UROS: view

Primer Products

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
cow
(Bos Taurus)
Mammalia UROS 35
  • 86.11 (n)
  • 86.36 (a)
UROS 36
  • 86 (a)
OneToOne
dog
(Canis familiaris)
Mammalia UROS 35
  • 86.62 (n)
  • 85.98 (a)
UROS 36
  • 85 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Uros 35
  • 80.38 (n)
  • 77.74 (a)
Uros 16
Uros 36
  • 77 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia UROS 35
  • 99.12 (n)
  • 99.25 (a)
UROS 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Uros 35
  • 80.88 (n)
  • 77.74 (a)
oppossum
(Monodelphis domestica)
Mammalia UROS 36
  • 70 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia UROS 36
  • 57 (a)
OneToOne
chicken
(Gallus gallus)
Aves UROS 35
  • 70.2 (n)
  • 68.56 (a)
UROS 36
  • 67 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia UROS 36
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia uros 35
  • 63.7 (n)
  • 62.4 (a)
zebrafish
(Danio rerio)
Actinopterygii Dr.24250 35
uros 35
  • 58.3 (n)
  • 55.21 (a)
uros 36
  • 55 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG1885 37
  • 35 (a)
CG1885 35
  • 45.2 (n)
  • 38.56 (a)
CG1885 36
  • 31 (a)
OneToMany
CG9589 36
  • 26 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008064 35
  • 46.98 (n)
  • 40.52 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes HEM4 36
  • 24 (a)
OneToOne
HEM4 38
Species with no ortholog for UROS:
  • 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

ENSEMBL:
Gene Tree for UROS (if available)
TreeFam:
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
VAR_003674 Congenital erythropoietic porphyria (CEP)
VAR_003675 Congenital erythropoietic porphyria (CEP)
VAR_003676 Congenital erythropoietic porphyria (CEP)
rs28941775 Congenital erythropoietic porphyria (CEP) 125,815,094(-) TTTTT(A/G)CCAGC nc-transcript-variant, reference, missense
rs28941774 Congenital erythropoietic porphyria (CEP) 125,815,081(-) CAGAG(C/T)AGTGG nc-transcript-variant, reference, missense

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

Variant ID Type Subtype PubMed ID
nsv832017 CNV Loss 17160897
dgv837n71 CNV Gain 21882294
nsv428241 CNV Loss 18775914
dgv324e1 CNV Complex 17122850
esv33326 CNV Gain 17666407
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)
UROS

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

Disorders for UROS Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
porphyria, congenital erythropoietic
  • congenital erythropoietic porphyria
porphyria
  • disorder of porphyrin and hem metabolism
scleromalacia perforans
immune hydrops fetalis
  • ihf
non-immune hydrops fetalis
  • non-immune hf
- elite association - COSMIC cancer census association via MalaCards
Search UROS in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

HEM4_HUMAN
  • 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: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:
UROS
genes like me logo Genes that share disorders with UROS: view

Publications for UROS Gene

  1. Regional assignment of the human uroporphyrinogen III synthase (UROS) gene to chromosome 10q25.2----q26.3. (PMID: 2037278) Astrin K.H. … Desnick R.J. (Hum. Genet. 1991) 2 3 23 67
  2. Congenital erythropoietic porphyria: a novel uroporphyrinogen III synthase branchpoint mutation reveals underlying wild-type alternatively spliced transcripts. (PMID: 19965637) Bishop D.F. … Desnick R.J. (Blood 2010) 3 23
  3. Uroporphyrinogen III synthase mutations related to congenital erythropoietic porphyria identify a key helix for protein stability. (PMID: 19099412) Fortian A. … Millet O. (Biochemistry 2009) 3 23
  4. Human uroporphyrinogen III synthase: NMR-based mapping of the active site. (PMID: 18004775) Cunha L. … Desnick R.J. (Proteins 2008) 3 23
  5. Hypoxia decreases the expression of the two enzymes responsible for producing linear and cyclic tetrapyrroles in the heme biosynthetic pathway. (PMID: 19021769) Vargas P.D. … Shibahara S. (FEBS J. 2008) 3 23

Products for UROS Gene

Sources for UROS Gene

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