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Aliases for UROS Gene

Aliases for UROS Gene

  • Uroporphyrinogen III Synthase 2 3
  • Uroporphyrinogen-III Cosynthase 3 4
  • UROIIIS 3 4
  • Hydroxymethylbilane Hydrolyase [Cyclizing] 4
  • Congenital Erythropoietic Porphyria 2
  • Hydroxymethylbilane Hydrolyase 3
  • Uroporphyrinogen-III Synthase 3
  • EC 4.2.1.75 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 congenital porphyria. Among its related pathways are Metabolism and 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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for UROS Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Other Protein References for UROS Gene

No data available for DME Specific Peptides for UROS Gene

Domains for UROS Gene

Protein Domains for UROS Gene

Graphical View of Domain Structure for InterPro Entry

P10746

UniProtKB/Swiss-Prot:

HEM4_HUMAN :
  • P10746
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:0004852 uroporphyrinogen-III synthase activity IDA 18004775
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

Animal Models for UROS Gene

MGI Knock Outs for UROS:

Animal Model Products

CRISPR Products

miRNA for UROS Gene

miRTarBase miRNAs that target UROS

No data available for Transcription Factor Targeting 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 2
peroxisome 1

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 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:0006779 porphyrin-containing compound biosynthetic process --
GO:0006780 uroporphyrinogen III biosynthetic process IDA 18004775
GO:0006782 protoporphyrinogen IX biosynthetic process IEA --
GO:0006783 heme biosynthetic process TAS --
genes like me logo Genes that share ontologies with UROS: view

Compounds for UROS Gene

(7) HMDB Compounds for UROS Gene

Compound Synonyms Cas Number PubMed IDs
Coproporphyrinogen III
  • 3,8,13,17-tetramethyl-5,10,15,20,22,24-hexahydroporphyrin-2,7,12,18-tetrapropanoate
2624-63-7
Formyl-CoA
  • Formyl coenzyme A
13131-49-2
Heme
  • (protoporphyrinato)iron
14875-96-8
Hydroxymethylbilane
  • 3,8,13,18-tetrakis(carboxymethyl)-19-(hydroxymethyl)bilane-2,7,12,17-tetrapropanoate
73023-76-4
Uroporphyrinogen I
  • 3,8,13,18-tetrakis(carboxymethyl)-5,10,15,20,22,24-hexahydro-21H,23H-Porphine-2,7,12,17-tetrapropanoic acid
1867-62-5

(11) Novoseek inferred chemical compound relationships for UROS Gene

Compound -log(P) Hits PubMed IDs
uroporphyrinogen-iii 99.2 92
uroporphyrin i 96 2
hydroxymethylbilane 93.8 9
uroporphyrin 85.5 2
porphobilinogen 84.8 4
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

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for UROS

Primer Products

Flow Cytometry 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: - - - -
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

Integrated Proteomics: protein expression 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 expressions with UROS: view

In Situ Assay Products

No data available for mRNA differential expression in normal tissues 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
chimpanzee
(Pan troglodytes)
Mammalia UROS 35
  • 99.12 (n)
  • 99.25 (a)
UROS 36
  • 99 (a)
OneToOne
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
oppossum
(Monodelphis domestica)
Mammalia UROS 36
  • 70 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia UROS 36
  • 57 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Uros 35
  • 80.88 (n)
  • 77.74 (a)
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
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008064 35
  • 46.98 (n)
  • 40.52 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG1885 35
  • 45.2 (n)
  • 38.56 (a)
CG1885 36
  • 31 (a)
OneToMany
CG9589 36
  • 26 (a)
OneToMany
CG1885 37
  • 35 (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 MAF
rs947581 -- 125,806,593(+) AAGCC(C/T)AAAAT intron-variant
rs947582 -- 125,806,785(+) GGGAA(C/G)AGAGA intron-variant
rs1571278 -- 125,796,685(+) GATTA(A/G)GCCGT intron-variant
rs1804320 -- 125,788,796(-) ATCGG(C/T)AAGGG utr-variant-3-prime, intron-variant, nc-transcript-variant
rs1891358 -- 125,815,365(+) GCTCA(C/G)AGTCT intron-variant

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

Relevant External Links for UROS Gene

HapMap Linkage Disequilibrium report
UROS
Human Gene Mutation Database (HGMD)
UROS

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

Disorders for UROS Gene

(1) OMIM Diseases for UROS Gene (606938)

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.

(3) Novoseek inferred disease relationships for UROS Gene

Disease -log(P) Hits PubMed IDs
porphyria, congenital erythropoietic 98.9 42
enzyme deficiency 44.5 1
metabolic disorder 24.6 2

Genatlas disease for UROS Gene

porphyria congenita erythropoietic,Gunther disease
genes like me logo Genes that share disorders with UROS: view

Publications for UROS Gene

  1. Congenital erythropoietic porphyria: identification and expression of exonic mutations in the uroporphyrinogen III synthase gene. (PMID: 1737856) Warner C.A. … Desnick R.J. (J. Clin. Invest. 1992) 3 4 23
  2. 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
  3. Point mutations in the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria (Gunther's disease). (PMID: 2331520) Deybach J.-C. … Nordmann Y. (Blood 1990) 3 4 23
  4. Novel point mutation in the uroporphyrinogen III synthase gene causes congenital erythropoietic porphyria of a Japanese family. (PMID: 9188670) Takamura N. … Yamashita S. (Am. J. Med. Genet. 1997) 3 4 23
  5. Molecular basis of congenital erythropoietic porphyria: mutations in the human uroporphyrinogen III synthase gene. (PMID: 8829650) Xu W. … Desnick R.J. (Hum. Mutat. 1996) 3 4 23

Products for UROS Gene

Sources for UROS Gene

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