UROS Gene
protein-coding GIFtS: 61
GCID: GC10M127467
|
|
uroporphyrinogen III synthase
| |
Aliases
for UROS gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Uroporphyrinogen III Synthase1 2 | | Uroporphyrinogen-III Synthase2 | | Uroporphyrinogen-III Cosynthase2 3 | | EC 4.2.1.753 | | UROIIIS2 3 | | Hydroxymethylbilane Hydrolyase [Cyclizing]3 | | Hydroxymethylbilane Hydrolyase2 | | |
Export aliases for UROS gene to outside databasesPrevious GC identifers: GC10M126452 GC10M126680 GC10M127514 GC10M127051 GC10M121166 |
Summaries
for UROS gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for UROS:
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)
UniProtKB/Swiss-Prot: HEM4_HUMAN, P10746Function: Catalyzes cyclization of the linear tetrapyrrole, hydroxymethylbilane, to the macrocyclic uroporphyrinogenIII, the branch point for the various sub-pathways leading to the wide diversity of porphyrins. Porphyrins act ascofactors for a multitude of enzymes that perform a variety of processes within the cell such as methionine synthesis(vitamin B12) or oxygen transport (heme)
|
Genomic Views
for UROS gene
(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 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000010.10 NC_018921.1 NT_030059.13
Regulatory elements:
 SABiosciences 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
Search SABiosciences Chromatin IP Primers for UROS
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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-q26.3UROS Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
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 |
|
Proteins
for UROS gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
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
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
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 Q9H2T1Explore the universe of human proteins at neXtProt for UROS: NX_P10746
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_P10746
UROS Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_000366.1
ENSEMBL proteins: ENSP00000357787 ENSP00000357775 ENSP00000414833 ENSP00000357767 ENSP00000357763 Reactome Protein details: P10746
Human Recombinant Protein Products for UROS:
Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table
UROS for ontologies About GeneDecksing
UROS Antibody Products:
Assay Products for UROS: |
Protein
Domains /
Families
for UROS gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
UROS for domains About GeneDecksing
1 InterPro domain/family:Graphical View of Domain Structure for InterPro Entry P10746ProtoNet protein and cluster: P10746 1 Blocks protein family: IPB003754 Uroporphyrinogen III synthase HEM4
UniProtKB/Swiss-Prot: HEM4_HUMAN, P10746Similarity: Belongs to the uroporphyrinogen-III synthase family |
Function
for UROS gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
inGenious Targeting Laboratory,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase,
shRNA from
OriGene,
Sirion Biotech,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Sirion Biotech,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
Sirion Biotech,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Molecular Function:
UniProtKB/Swiss-Prot Summary: HEM4_HUMAN, P10746Function: Catalyzes cyclization of the linear tetrapyrrole, hydroxymethylbilane, to the macrocyclic uroporphyrinogenIII, the branch point for the various sub-pathways leading to the wide diversity of porphyrins. Porphyrins act ascofactors 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 (GO ID links to tree view): About this table
UROS for ontologies About GeneDecksing
Phenotypes:
1 GenomeRNAi human phenotype for UROS:
10 MGI mutant phenotypes (inferred from 6 alleles ) (MGI details for Uros):
UROS for phenotypes About GeneDecksing
Animal Models:
Mouse knock-out Urostm2Cged for UROS
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for UROS (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, 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) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for UROS | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat UROS |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for UROS |
|
Pathways & Interactions
for UROS gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
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 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | heme biosynthesis II | | | 2 | Metabolism | | | 3 | Glucuronidation | |
Pathway sources
See GeneCards unified pathways
Show all pathways
1  BioSystems Pathway for UROS
3 
Reactome Pathways for UROS
2 
Kegg Pathways (Kegg details for UROS):
UniProtKB/Swiss-Prot: HEM4_HUMAN, P10746Pathway: Porphyrin metabolism; protoporphyrin-IX biosynthesis; coproporphyrinogen-III from 5-aminolevulinate: step 3/4
UROS for pathways About GeneDecksing
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for UROS
STRING Interaction
Network Preview (showing 4 interactants - click image to see more details)
4 Interacting proteins for UROS (P107462, 3 ENSP000003577754) via UniProtKB, MINT, STRING, and/or I2D
About this table
Gene Ontology (GO): 5/10 biological process terms (GO ID links to tree view) (see all 10): About this table | 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 | -- |
UROS for ontologies About GeneDecksing
|
Drugs & Compounds
for UROS gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
UROS for compounds About GeneDecksing
 Browse Tocris compounds for UROS
7 HMDB Compounds for UROS About this table
| Compound | Synonyms |
CAS
# | PubMed Ids |
|---|
| Coproporphyrinogen III | 3,8,13,17-tetramethyl-5,10,15,20,22,24-hexahydroporphyrin-2,7,12,18-tetrapropanoate (see all 9) | 2624-63-7 | -- | | Formyl-CoA | Formyl coenzyme A | 13131-49-2 | -- | | Heme | (protoporphyrinato)iron (see all 19) | 14875-96-8 | -- | | Hydroxymethylbilane | 3,8,13,18-tetrakis(carboxymethyl)-19-(hydroxymethyl)bilane-2,7,12,17-tetrapropanoate (see all 8) | 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 (see all 6) | 1867-62-5 | -- | | Uroporphyrinogen III | 3,8,13,17-tetrakis(carboxymethyl)-5,10,15,20,22,24-hexahydro-2,7,12,18-Porphinetetrapropionate (see all 9) | 1976-85-8 | -- | | Water | Dihydrogen oxide (see all 2) | 7732-18-5 | -- |
10/11 Novoseek 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) |
Search CenterWatch for drugs/clinical trials and news about UROS / HEM4
|
Transcripts
for UROS gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
Sirion Biotech,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for UROS gene: NM_000375.2 Unigene Cluster for UROS: Uroporphyrinogen III synthase Hs.501376 [show with all ESTs]Unigene Representative Sequence: AK09207611 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000470483 ENST00000368797(uc001lix.4) ENST00000484541 ENST00000368786(uc001liw.4)
ENST00000465577 ENST00000464267 ENST00000465260 ENST00000462490 ENST00000420761
ENST00000368778(uc021qap.1) ENST00000368774
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for UROS (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, 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) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for UROS | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat UROS |
Additional cDNA sequence: AF230665.1 AK090736.1 AK092076.1 AK314896.1 BC002573.2 BC004338.1 J03824.1 24/26 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 24/271 AceView cDNA sequences (see all 271): BM354083 BM127395 F05137 CK820054 BX114198 BQ925911 BM548336 BM975652 H66107 BQ045221 AI078031 AI378767 CA421152 CA445000 F29004 CB243207 AI064882 CB120447 AA448736 BX400917 CB138243 BC024936 CA415404 AI467956
GeneLoc Exon Structure
5/15 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
|
Expression
for UROS gene
(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™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| UROS expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CAGCCTCCCT
About this image
See UROS Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for UROS
SOURCE GeneReport for Unigene cluster: Hs.501376
UniProtKB/Swiss-Prot: HEM4_HUMAN, P10746Tissue specificity: Ubiquitous
SABiosciences Custom PCR Arrays for UROS
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for UROS
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat UROS | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat UROS | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat UROS | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for UROS |
Orthologs
for UROS gene
(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)
About This Section
|
This gene was present in the common ancestor of animals.
Orthologs for UROS gene from 5/19 species (see all 19) 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 |
70.58(n)
68.94(a) |
|
426223 XM_423886.3 XP_423886.2 |
lizard
(Anolis carolinensis) |
Reptilia |
UROS6 |
-- |
68(a) |
1 ↔ 1 |
3(63021294-63043660) |
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
44.59(n)1
38.53(a)1 |
|
8B63
318171 NM_132279.31 NP_572507.11 |
ENSEMBL Gene Tree for UROS (if available)
TreeFam Gene Tree for UROS (if available) |
Paralogs
for UROS gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| -- |
Genomic Variants
for UROS gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, 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) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 10 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for UROS (127477146 - 127511837 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for UROS
2 CNVs: 6848 3825
Human Gene Mutation Database (HGMD): UROS
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing UROS |
|
Disorders
/ Diseases
for UROS gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
UROS for disorders About GeneDecksing
OMIM gene information: 606938
OMIM disorders: 263700
UniProtKB/Swiss-Prot: HEM4_HUMAN, P10746
Defects in UROS are the cause of congenital erythropoietic porphyria (CEP) [MIM:263700]; also known as Guntherdisease. Porphyrias are inherited defects in the biosynthesis of heme, resulting in the accumulation and increasedexcretion of porphyrins or porphyrin precursors. They are classified as erythropoietic or hepatic, depending onwhether 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, whichhave only skin lesions due to cutaneous photosensitivity in adult life. The deficiency in UROS activity results in thenon-enzymatic conversion of hydroxymethylbilane (HMB) into the uroporphyrinogen-I isomer Note=Severe congenital erythropoietic porphyria is associated with non-immune hydrops fetalis, a generalizededema of the fetus with fluid accumulation in the body cavities due to non-immune causes. Non-immune hydrops fetalisis not a diagnosis in itself but a symptom, a feature of many genetic disorders, and the end-stage of a wide varietyof disorders
15  diseases for UROS: About MalaCardscongenital erythropoietic porphyria porphyria scleromalacia perforans dubin-johnson syndrome
hydrops fetalis cicatricial ectropion acute intermittent porphyria metabolic disorders
ectropion hypertrichosis dermatitis ataxia
hypoxia hepatitis alcoholism
12 diseases from the University of Copenhagen DISEASES database for UROS:Hereditary coproporphyria Erythropoietic protoporphyria Variegate porphyria Acute intermittent porphyria
Porphyria cutanea tarda Hepatoerythropoietic porphyria Hypertrichosis Scleromalacia perforans
Cicatricial ectropion Cutaneous porphyria Anemia Autosomal recessive disease 3 Novoseek disease relationships for UROS gene About this table
Genatlas disease: UROS porphyria congenita erythropoietic,Gunther disease
Export disorders for UROS gene to outside databases
|
Publications
for UROS gene (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 9 sources (see all 89):
(articles sorted by number of sources associating them with UROS) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- 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. (1991)
- 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. (2004)
- 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. (1998)
- 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. (1997)
- Crystal structure of human uroporphyrinogen III synthase. (PubMed id 11689424)1, 2, 9 Mathews M.A....Hill C.P. (2001)
- Human uroporphyrinogen-III synthase: genomic organization, alternative promoters, and erythroid-specific expression. (PubMed id 11112350)1, 2, 9 Aizencang G.... Desnick R.J. (2000)
- A novel point mutation in congenital erythropoietic porphyria in two members of Japanese family. (PubMed id 8655129)1, 2, 9 Tanigawa K.... Ged C. (1996)
- Congenital erythropoietic porphyria successfully treated by allogeneic bone marrow transplantation. (PubMed id 9834209)1, 2, 9 Tezcan I.... Desnick R.J. (1998)
- 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. (1996)
- 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. (1992)
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External Searches for UROS gene
(in PubMed,
OMIM, and NCBI Bookshelf)
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Genome Databases showing UROS gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
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Other Databases showing UROS gene
(According to HUGE)
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Specialized Databases showing UROS gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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|
| Name | Description |
| PharmGKB entry for UROS | Pharmacogenomics, SNPs, Pathways | | GeneReviews | http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/UROS |
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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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Products
for UROS gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
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| | |  | Browse OriGene Antibodies | | OriGene shRNA RFP for UROS | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for UROS | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for UROS | | | OriGene Protein Over-expression Lysate for UROS | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for UROS | | OriGene 3'-UTR Clone for UROS | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for UROS | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for UROS | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | OriGene Purified Protein for UROS | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
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| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for UROS |
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