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UROS Gene

protein-coding   GIFtS: 66
GCID: GC10M127467

Uroporphyrinogen III Synthase

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Uroporphyrinogen III Synthase1 2     Hydroxymethylbilane Hydrolyase2
Uroporphyrinogen-III Cosynthase2 3     Uroporphyrinogen-III Synthase2
UROIIIS2 3     EC 4.2.1.753
Congenital Erythropoietic Porphyria1     Hydroxymethylbilane Hydrolyase [Cyclizing]3

External Ids:    HGNC: 125921   Entrez Gene: 73902   Ensembl: ENSG000001886907   OMIM: 6069385   UniProtKB: P107463   
ORGUL members:         

Export aliases for UROS gene to outside databases

Previous GC identifers: GC10M126452 GC10M126680 GC10M127514 GC10M127051 GC10M121166


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 scleromalacia perforans, and congenital porphyria. GO annotations related to this gene include uroporphyrinogen-III synthase activity and cofactor binding.

UniProtKB/Swiss-Prot: HEM4_HUMAN, P10746
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)




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000010.11  NT_030059.14  NC_018921.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the UROS gene promoter:
         Max1   FOXD3   HNF-3beta   SREBP-1b   E47   PPAR-gamma1   Nkx6-1   SREBP-1a   PPAR-gamma2   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidUROS promoter sequence
   Search Chromatin IP Primers for UROS

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat UROS


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 10q25.2-q26.3   Ensembl cytogenetic band:  10q26.2   HGNC cytogenetic band: 10q25.2-q26.3

UROS Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
UROS gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10M127467:  view genomic region     (about GC identifiers)

Start:
127,477,146 bp from pter      End:
127,511,837 bp from pter
Size:
34,692 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: HEM4_HUMAN, P10746 (See protein sequence)
Recommended Name: Uroporphyrinogen-III synthase  
Size: 265 amino acids; 28628 Da
Subunit: Monomer
1 PDB 3D structure from and Proteopedia for UROS:
1JR2 (3D)    
Secondary accessions: B2RC13 D3DRF7 Q9H2T1

Explore the universe of human proteins at neXtProt for UROS: NX_P10746

Explore proteomics data for UROS at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See UROS Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000366.1  
    ENSEMBL proteins: 
     ENSP00000357787   ENSP00000357775   ENSP00000414833   ENSP00000357767   ENSP00000357763  
    Reactome Protein details: P10746

    UROS Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    Novus Biologicals UROS Proteins
    Novus Biologicals UROS Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    ProSpec Recombinant Protein for UROS
    Cloud-Clone Corp. Proteins for UROS

    UROS Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
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    Novus Biologicals UROS Antibodies
    Abcam antibodies for UROS
    Cloud-Clone Corp. Antibodies for UROS
    ThermoFisher Antibodies for UROS
    LSBio Antibodies in human, mouse, rat for UROS

    UROS Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for UROS
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for UROS
    Cloud-Clone Corp. CLIAs for UROS


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR003754 4pyrrol_synth_uPrphyn_synth

    Graphical View of Domain Structure for InterPro Entry P10746

    ProtoNet protein and cluster: P10746

    1 Blocks protein domain: IPB003754 Uroporphyrinogen III synthase HEM4

    UniProtKB/Swiss-Prot: HEM4_HUMAN, P10746
    Similarity: Belongs to the uroporphyrinogen-III synthase family


    UROS for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: HEM4_HUMAN, P10746
    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)
    Catalytic activity: Hydroxymethylbilane = uroporphyrinogen III + H(2)O

         Genatlas biochemistry entry for UROS:
    uroporphyrinogen III synthase,cytosolic,catalyzing the fourth step of porphyrin biosynthesis

         Enzyme Number (IUBMB): EC 4.2.1.751

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004852uroporphyrinogen-III synthase activity IDA18004775
    GO:0048037cofactor binding IEA--
         
    UROS for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for UROS:
     Upregulation of Wnt/beta-caten 

         10 MGI mutant phenotypes (inferred from 6 alleles(MGI details for Uros):
     craniofacial  growth/size/body  hematopoietic system  homeostasis/metabolism  immune system 
     integument  liver/biliary system  mortality/aging  renal/urinary system  skeleton 

    UROS for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Urostm2Cged for UROS

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for UROS
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for UROS

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for UROS
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for UROS

    miRNA
    Products:
        
    miRTarBase miRNAs that target UROS:
    hsa-mir-29b-2-5p (MIRT038712)

    Block miRNA regulation of human, mouse, rat UROS using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate UROS:
    hsa-miR-3667-3p
    SwitchGear 3'UTR luciferase reporter plasmidUROS 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for UROS
    Predesigned siRNA for gene silencing in human, mouse, rat UROS

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for UROS

    Clone
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    OriGene clones in human, mouse for UROS (see all 6)
    OriGene ORF clones in mouse, rat for UROS
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: UROS (NM_000375)
    Sino Biological Human cDNA Clone for UROS
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for UROS
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat UROS

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for UROS
    Browse ESI BIO Cell Lines and PureStem Progenitors for UROS 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for UROS


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol5
    mitochondrion4
    nucleus2
    peroxisome1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion ISS--
    GO:0005829cytosol TAS--

    UROS for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for UROS About    
    See pathways by source

    SuperPathContained pathways About
    1Metabolism of porphyrins
    Metabolism of porphyrins0.56
    Heme Biosynthesis0.00
    Porphyrin and chlorophyll metabolism0.56
    Heme biosynthesis0.00
    2Metabolism
    Metabolism0.38
    Metabolic pathways0.38

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for UROS
        Heme Biosynthesis


    1 Reactome Pathway for UROS
        Heme biosynthesis


    2 Kegg Pathways  (Kegg details for UROS):
        Porphyrin and chlorophyll metabolism
    Metabolic pathways

    UniProtKB/Swiss-Prot: HEM4_HUMAN, P10746
    Pathway: Porphyrin-containing compound metabolism; protoporphyrin-IX biosynthesis; coproporphyrinogen-III from
    5-aminolevulinate: step 3/4


    UROS for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for UROS
    Interactions:

        Search GeneGlobe Interaction Network for UROS

    STRING Interaction Network Preview (showing 5 interactants - click image to see 13)

    Selected Interacting proteins for UROS (P107462, 3 ENSP000003577754) via UniProtKB, MINT, STRING, and/or I2D (see all 13)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBQLN4Q9NRR52, 3, ENSP000003572924MINT-2864009 I2D: score=3 STRING: ENSP00000357292
    URODENSP000002463374STRING: ENSP00000246337
    ALADENSP000003862844STRING: ENSP00000386284
    HMBSENSP000002787154STRING: ENSP00000278715
    MSMO1ENSP000002615074STRING: ENSP00000261507
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006778porphyrin-containing compound metabolic process TAS--
    GO:0006779porphyrin-containing compound biosynthetic process ----
    GO:0006780uroporphyrinogen III biosynthetic process IDA18004775
    GO:0006782protoporphyrinogen IX biosynthetic process IEA--
    GO:0006783heme biosynthetic process TAS--

    UROS for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for UROS (HEM4)

    7 HMDB Compounds for UROS    About this table
    CompoundSynonyms CAS #PubMed Ids
    Coproporphyrinogen III3,8,13,17-tetramethyl-5,10,15,20,22,24-hexahydroporphyrin-2,7,12,18-tetrapropanoate (see all 9)2624-63-7--
    Formyl-CoAFormyl coenzyme A 13131-49-2--
    Heme(protoporphyrinato)iron (see all 19)14875-96-8--
    Hydroxymethylbilane3,8,13,18-tetrakis(carboxymethyl)-19-(hydroxymethyl)bilane-2,7,12,17-tetrapropanoate (see all 8)73023-76-4--
    Uroporphyrinogen I3,8,13,18-tetrakis(carboxymethyl)-5,10,15,20,22,24-hexahydro-21H,23H-Porphine-2,7,12,17-tetrapropanoic acid (see all 6)1867-62-5--
    Uroporphyrinogen III3,8,13,17-tetrakis(carboxymethyl)-5,10,15,20,22,24-hexahydro-2,7,12,18-Porphinetetrapropionate (see all 9)1976-85-8--
    WaterDihydrogen oxide (see all 2)7732-18-5--

    Selected Novoseek inferred chemical compound relationships for UROS gene (see all 11)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    uroporphyrinogen-iii 99.2 134 12196144 (3), 7592565 (3), 9164637 (3), 12721665 (3) (see all 68)
    uroporphyrin i 96 2 17148589 (1), 1519940 (1)
    hydroxymethylbilane 93.8 14 19021769 (1), 18281969 (1), 12196144 (1), 7607680 (1) (see all 9)
    uroporphyrin 85.5 2 9787090 (1), 19934113 (1)
    porphobilinogen 84.8 5 7592565 (2), 7616649 (1), 8949908 (1)
    siroheme 83.8 1 11689424 (1)
    porphyrin 78.5 9 9787090 (2), 11273784 (1), 15703981 (1), 12721665 (1)
    5-aminolevulinic acid 61.7 6 9787090 (2), 19289130 (1), 7616649 (1)
    proline 22.5 3 15304101 (1)
    iron 0 1 9787090 (1)



    UROS for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for UROS gene: 
    NM_000375.2  

    Unigene Cluster for UROS:

    Uroporphyrinogen III synthase
    Hs.501376  [show with all ESTs]
    Unigene Representative Sequence: AK092076
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000470483 ENST00000368797(uc001lix.4) ENST00000484541 ENST00000368786(uc001liw.4)
    ENST00000465577 ENST00000464267 ENST00000462490 ENST00000420761 ENST00000368778(uc021qap.1)
    ENST00000368774
    miRNA
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    1 qRT-PCR Assays for microRNA that regulate UROS:
    hsa-miR-3667-3p
    SwitchGear 3'UTR luciferase reporter plasmidUROS 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat UROS
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    GenScript: all cDNA clones in your preferred vector: UROS (NM_000375)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for UROS
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat UROS
    Primer
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    OriGene qPCR primer pairs and template standards for UROS
    OriGene qSTAR qPCR primer pairs in human, mouse for UROS
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat UROS
      QuantiTect SYBR Green Assays in human, mouse, rat UROS
      QuantiFast Probe-based Assays in human, mouse, rat UROS

    Additional mRNA sequence: 

    AF230665.1 AK090736.1 AK092076.1 AK314896.1 BC002573.2 BC004338.1 J03824.1 

    Selected DOTS entries (see all 26):

    DT.100822763  DT.116507  DT.100822757  DT.100822761  DT.121252341  DT.92436879  DT.121252197  DT.95349723 
    DT.439008  DT.40197872  DT.40310853  DT.100822762  DT.100822755  DT.92436886  DT.97770396  DT.100029407 
    DT.100822753  DT.101957477  DT.121252336  DT.100029401  DT.121252184  DT.121252346  DT.100822752  DT.91744924 

    Selected AceView cDNA sequences (see all 271):

    BC024936 CA445000 BQ925911 F29004 F12377 CA421152 CB138243 CA427376 
    BX384752 AI754309 BM127395 BM706140 BU734660 H66107 BC004338 BQ670225 
    CA944669 BC002573 CR600887 T28560 BM709237 BU662584 AA017629 CB243207 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for UROS (see all 15)    About this scheme

    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:                    -     -     -     -     -     -     -     -     -                 -                 -           -           -     -     -     -     -   

    ExUns: 13c ^ 14a · 14b · 14c · 14d · 14e · 14f · 14g · 14h
    SP1:  -                                                   
    SP2:  -                                                   
    SP3:                                                      
    SP4:  -                                                   
    SP5:  -                                                   


    ECgene alternative splicing isoforms for UROS

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    UROS expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CAGCCTCCCT
    UROS Expression
    About this image


    UROS expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Metencephalon
     
     Bone (Muscoskeletal System)
             Membranous Facial Bones
     
     Blood (Hematopoietic System)
             Proerythroblasts Hematopoietic Bone Marrow
     
     Eye (Sensory Organs)
             Lens
    UROS Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    UROS Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.501376

    UniProtKB/Swiss-Prot: HEM4_HUMAN, P10746
    Tissue specificity: Ubiquitous

        Custom PCR Arrays for UROS
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    QuantiFast Probe-based Assays in human, mouse, rat UROS
    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for UROS

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for UROS gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Uros1 , 5 uroporphyrinogen III synthase1, 5 80.38(n)1
    77.74(a)1
      7 (77.26 cM)5
    222761  NM_009479.21  NP_033505.11 
     1336862435 
    chicken
    (Gallus gallus)
    Aves UROS1 uroporphyrinogen III synthase 70.2(n)
    68.56(a)
      426223  XM_004942345.1  XP_004942402.1 
    lizard
    (Anolis carolinensis)
    Reptilia UROS6
    uroporphyrinogen III synthase
    68(a)
    1 ↔ 1
    3(63020683-63048907)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia uros1 uroporphyrinogen III synthase 63.7(n)
    62.4(a)
      100135131  NM_001113852.1  NP_001107324.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.242502 Danio rerio uroporphyrinogen III synthase mRNA, complete more 75.53(n)    AF489105.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG18851 , 3 uroporphyringonen-III synthase3
    CG18851
    35(a)3
    45.2(n)1
    38.56(a)1
      8B63
    318171  NM_132279.41  NP_572507.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes HEM4(YOR278W)4 Uroporphyrinogen III synthase, catalyzes the conversion more   --   15(842817-843644) 854452  NP_014921.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for UROS (see all 821)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1219080161,2,,4
    CCongenital erythropoietic porphyria (CEP)4 pathogenic1127969731(-) CTGAAG/TGTGAG 2 V F mis10--------
    VAR_0036814
    Congenital erythropoietic porphyria (CEP)4--see VAR_0036812 V A mis40--------
    VAR_0036764
    Congenital erythropoietic porphyria (CEP)4--see VAR_0036762 P L mis40--------
    VAR_0135584
    Congenital erythropoietic porphyria (CEP)4--see VAR_0135582 G R mis40--------
    VAR_0036794
    Congenital erythropoietic porphyria (CEP)4--see VAR_0036792 C R mis40--------
    VAR_0036854
    Congenital erythropoietic porphyria (CEP)4--see VAR_0036852 T M mis40--------
    VAR_0216174
    Congenital erythropoietic porphyria (CEP)4--see VAR_0216172 A T mis40--------
    VAR_0673184
    Congenital erythropoietic porphyria (CEP)4--see VAR_0673182 L P mis40--------
    VAR_0036844
    Congenital erythropoietic porphyria (CEP)4--see VAR_0036842 G S mis40--------
    VAR_0216184
    Congenital erythropoietic porphyria (CEP)4--see VAR_0216182 I T mis40--------

    HapMap Linkage Disequilibrium report for UROS (127477146 - 127511837 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for UROS:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv8736CNV Loss18304495
    nsv428241CNV Loss18775914
    nsv832017CNV Loss17160897
    dgv837n71CNV Gain21882294
    esv33326CNV Gain17666407
    dgv324e1CNV Complex17122850

    Human Gene Mutation Database (HGMD): UROS
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing UROS
    DNA2.0 Custom Variant and Variant Library Synthesis for UROS

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 606938   
    OMIM disorders: 263700  
    UniProtKB/Swiss-Prot: HEM4_HUMAN, P10746
  • 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. 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

  • Selected diseases for UROS (see all 27):    
    About MalaCards
    scleromalacia perforans    congenital porphyria    cicatricial ectropion    congenital erythropoietic porphyria
    aplasia cutis congenita    ectropion    cutaneous porphyria    porphyria
    hepatoerythropoietic porphyria    dubin-johnson syndrome    hereditary coproporphyria    acute intermittent porphyria
    variegate porphyria    erythropoietic protoporphyria    hypertrichosis    porphyria cutanea tarda
    hydrops fetalis    autosomal recessive disease    hemolytic anemia    dermatitis

    12 diseases from the University of Copenhagen DISEASES database for UROS:
    Erythropoietic protoporphyria     Hereditary coproporphyria     Acute intermittent porphyria     Porphyria cutanea tarda
    Variegate porphyria     Hepatoerythropoietic porphyria     Hypertrichosis     Scleromalacia perforans
    Cicatricial ectropion     Cutaneous porphyria     Anemia     Autosomal recessive disease

    UROS for disorders           About GeneDecksing

    3 Novoseek inferred disease relationships for UROS gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    porphyria, congenital erythropoietic 98.9 65 9799113 (2), 11254675 (2), 16532394 (2), 19099412 (2) (see all 36)
    enzyme deficiency 44.5 1 15703981 (1)
    metabolic disorder 24.6 2 7888667 (1), 9747227 (1)

    Genatlas disease: UROS
    porphyria congenita erythropoietic,Gunther disease


    Export disorders for UROS gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for UROS gene, integrated from 10 sources (see all 91):
    (articles sorted by number of sources associating them with UROS)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Regional assignment of the human uroporphyrinogen III synthase (UROS) gene to chromosome 10q25.2----q26.3. (PubMed id 2037278)1, 3, 9 Astrin K.H....Desnick R.J. (Hum. Genet. 1991)
    2. Congenital erythropoietic porphyria: report of a novel mutation with absence of clinical manifestations in a homozygous mutant sibling. (PubMed id 15304101)1, 2, 9 Ged C....de Verneuil H. (J. Invest. Dermatol. 2004)
    3. C73R is a hotspot mutation in the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria. (PubMed id 9803266)1, 2, 9 Frank J.... Christiano A.M. (Ann. Hum. Genet. 1998)
    4. Novel point mutation in the uroporphyrinogen III synthase gene causes congenital erythropoietic porphyria of a Japanese family. (PubMed id 9188670)1, 2, 9 Takamura N.... Yamashita S. (Am. J. Med. Genet. 1997)
    5. Crystal structure of human uroporphyrinogen III synthase. (PubMed id 11689424)1, 2, 9 Mathews M.A.... Hill C.P. (EMBO J. 2001)
    6. Human uroporphyrinogen-III synthase: genomic organization, alternative promoters, and erythroid-specific expression. (PubMed id 11112350)1, 2, 9 Aizencang G.... Desnick R.J. (Genomics 2000)
    7. A novel point mutation in congenital erythropoietic porphyria in two members of Japanese family. (PubMed id 8655129)1, 2, 9 Tanigawa K.... Ged C. (Hum. Genet. 1996)
    8. Congenital erythropoietic porphyria successfully treated by allogeneic bone marrow transplantation. (PubMed id 9834209)1, 2, 9 Tezcan I.... Desnick R.J. (Blood 1998)
    9. Molecular basis of congenital erythropoietic porphyria: mutations in the human uroporphyrinogen III synthase gene. (PubMed id 8829650)1, 2, 9 Xu W.... Desnick R.J. (Hum. Mutat. 1996)
    10. Congenital erythropoietic porphyria: identification and expression of exonic mutations in the uroporphyrinogen III synthase gene. (PubMed id 1737856)1, 2, 9 Warner C.A.... Desnick R.J. (J. Clin. Invest. 1992)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 7390 HGNC: 12592 AceView: UROS Ensembl:ENSG00000188690 euGenes: HUgn7390
    ECgene: UROS Kegg: 7390 H-InvDB: UROS

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for UROS Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=UROS[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for UROS gene:
    Search GeneIP for patents involving UROS

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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