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UniProtKB - P10746 (HEM4_HUMAN)

Protein

Uroporphyrinogen-III synthase

Gene

UROS

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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).

Caution

Variant Ala-62 was originally reported to result in no detectable enzyme activity (PubMed:1737856), as measured in recombinant crude lysate extracts. Further experiments with the purified enzyme have shown that this variant does not affect activity (PubMed:11689424).2 Publications

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section describes the metabolic pathway(s) associated with a protein.<p><a href='/help/pathway' target='_top'>More...</a></p>Pathwayi: protoporphyrin-IX biosynthesis

This protein is involved in step 3 of the subpathway that synthesizes coproporphyrinogen-III from 5-aminolevulinate.
Proteins known to be involved in the 4 steps of the subpathway in this organism are:
  1. Delta-aminolevulinic acid dehydratase (ALAD)
  2. Porphobilinogen deaminase (HMBS)
  3. Uroporphyrinogen-III synthase (UROS)
  4. Uroporphyrinogen decarboxylase (UROD), Uroporphyrinogen decarboxylase (UROD)
This subpathway is part of the pathway protoporphyrin-IX biosynthesis, which is itself part of Porphyrin-containing compound metabolism.
View all proteins of this organism that are known to be involved in the subpathway that synthesizes coproporphyrinogen-III from 5-aminolevulinate, the pathway protoporphyrin-IX biosynthesis and in Porphyrin-containing compound metabolism.

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

  • uroporphyrinogen-III synthase activity Source: UniProtKB
View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionLyase
Biological processHeme biosynthesis, Porphyrin biosynthesis

Enzyme and pathway databases

BioCyc Collection of Pathway/Genome Databases

More...BioCyci		MetaCyc:HS07569-MONOMER

BRENDA Comprehensive Enzyme Information System

More...BRENDAi		4.2.1.75 2681

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-189451 Heme biosynthesis

UniPathway: a resource for the exploration and annotation of metabolic pathways

More...UniPathwayi
UPA00251;UER00320

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Uroporphyrinogen-III synthase (EC:4.2.1.75)
Short name:
UROIIIS
Short name:
UROS
Alternative name(s):
Hydroxymethylbilane hydrolyase [cyclizing]
Uroporphyrinogen-III cosynthase
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:UROS
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 10

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000188690.12

Human Gene Nomenclature Database

More...HGNCi		HGNC:12592 UROS

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		606938 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_P10746

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Congenital erythropoietic porphyria (CEP)14 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionPorphyrias 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.
See also OMIM:263700
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_0216153V → F in CEP; no residual activity. 1 PublicationCorresponds to variant dbSNP:rs773301339Ensembl.1
Natural variantiVAR_0036744L → F in CEP. 1 PublicationCorresponds to variant dbSNP:rs121908015EnsemblClinVar.1
Natural variantiVAR_00367519Y → C in CEP. 1 Publication1
Natural variantiVAR_02161647S → P in CEP; severe cutaneous lesions; less than 3% wild-type activity. 1 PublicationCorresponds to variant dbSNP:rs397515527EnsemblClinVar.1
Natural variantiVAR_00367653P → L in CEP; severe phenotype; no detectable activity. 1 PublicationCorresponds to variant dbSNP:rs121908013EnsemblClinVar.1
Natural variantiVAR_00367762T → A in CEP; does not affect enzymatic activity. 2 PublicationsCorresponds to variant dbSNP:rs28941775EnsemblClinVar.1
Natural variantiVAR_00367866A → V in CEP; mild phenotype; residual activity. 1 PublicationCorresponds to variant dbSNP:rs28941774EnsemblClinVar.1
Natural variantiVAR_02161769A → T in CEP; less than 2% wild-type activity. 1 Publication1
Natural variantiVAR_00367973C → R in CEP; frequent mutation in Western countries; severe phenotype; no detectable activity. 5 PublicationsCorresponds to variant dbSNP:rs121908012EnsemblClinVar.1
Natural variantiVAR_00368082V → F in CEP; mild phenotype; high residual activity. 1 PublicationCorresponds to variant dbSNP:rs121908016EnsemblClinVar.1
Natural variantiVAR_00368199V → A in CEP. 1 Publication1
Natural variantiVAR_003682104A → V in CEP; residual activity. 1 PublicationCorresponds to variant dbSNP:rs397515528EnsemblClinVar.1
Natural variantiVAR_021618129I → T in CEP; no residual activity. 1 Publication1
Natural variantiVAR_013558188G → R in CEP; less than 5% wild-type activity. 1 PublicationCorresponds to variant dbSNP:rs121908017EnsemblClinVar.1
Natural variantiVAR_021619188G → W in CEP; mild phenotype; less than 2% wild-type activity. 1 PublicationCorresponds to variant dbSNP:rs121908017EnsemblClinVar.1
Natural variantiVAR_021620210 – 211EL → HIQSQAQSQAQDN in CEP. 1 Publication2
Natural variantiVAR_003683212S → P in CEP; no residual activity. 1 PublicationCorresponds to variant dbSNP:rs139388833Ensembl.1
Natural variantiVAR_021621219I → S in CEP; moderately-severe phenotype; less than 2% wild-type activity. 1 PublicationCorresponds to variant dbSNP:rs767029901Ensembl.1
Natural variantiVAR_003684225G → S in CEP. 1 PublicationCorresponds to variant dbSNP:rs121908020EnsemblClinVar.1
Natural variantiVAR_003685228T → M in CEP; no detectable activity. 3 PublicationsCorresponds to variant dbSNP:rs121908014EnsemblClinVar.1
Natural variantiVAR_067318237L → P in CEP. 1 PublicationCorresponds to variant dbSNP:rs777433697Ensembl.1
Natural variantiVAR_066247248P → Q in CEP. 1 PublicationCorresponds to variant dbSNP:rs121908021EnsemblClinVar.1
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.

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi63S → A: Does not affect enzymatic activity. 1 Publication1
Mutagenesisi65R → A: Slightly affects enzymatic activity. 1 Publication1
Mutagenesisi103T → A: Slightly affects enzymatic activity. 1 Publication1
Mutagenesisi127E → A: Does not affect enzymatic activity. 1 Publication1
Mutagenesisi168Y → F: Impairs enzymatic activity. 1 Publication1
Mutagenesisi197S → A: Does not affect enzymatic activity. 1 Publication1
Mutagenesisi220K → A: Does not affect enzymatic activity. 1 Publication1
Mutagenesisi227T → A: Does not affect enzymatic activity. 1 Publication1
Mutagenesisi228T → A: Impairs enzymatic activity. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...DisGeNETi		7390

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...GeneReviewsi		UROS

MalaCards human disease database

More...MalaCardsi		UROS
MIMi263700 phenotype

Open Targets

More...OpenTargetsi		ENSG00000188690

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		79277 Congenital erythropoietic porphyria

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA37222

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...ChEMBLi		CHEMBL4433

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		UROS

Domain mapping of disease mutations (DMDM)

More...DMDMi		122849

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001352511 – 265Uroporphyrinogen-III synthaseAdd BLAST265

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		P10746

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		P10746

MaxQB - The MaxQuant DataBase

More...MaxQBi		P10746

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		P10746

PeptideAtlas

More...PeptideAtlasi		P10746

PRoteomics IDEntifications database

More...PRIDEi		P10746

ProteomicsDB human proteome resource

More...ProteomicsDBi		52644

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		P10746

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		P10746

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Ubiquitous.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000188690 Expressed in 219 organ(s), highest expression level in caudate nucleus

CleanEx database of gene expression profiles

More...CleanExi		HS_UROS

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		P10746 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		P10746 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		HPA044038

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Monomer.1 Publication

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		113236, 13 interactors

Protein interaction database and analysis system

More...IntActi		P10746, 2 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000357775

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1265
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1JR2X-ray1.84A/B1-265[»]

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...ProteinModelPortali		P10746

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		P10746

Database of comparative protein structure models

More...ModBasei		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...EvolutionaryTracei		P10746

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the uroporphyrinogen-III synthase family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG4132 Eukaryota
COG1587 LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00390000009853

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		HOG000007209

The HOVERGEN Database of Homologous Vertebrate Genes

More...HOVERGENi		HBG000492

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		P10746

KEGG Orthology (KO)

More...KOi		K01719

Identification of Orthologs from Complete Genome Data

More...OMAi		DQIKFAA

Database of Orthologous Groups

More...OrthoDBi		1557657at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		P10746

TreeFam database of animal gene trees

More...TreeFami		TF324092

Family and domain databases

Conserved Domains Database

More...CDDi		cd06578 HemD, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR036108 4pyrrol_syn_uPrphyn_synt_sf
IPR003754 4pyrrol_synth_uPrphyn_synth
IPR039793 UROS/Hem4

The PANTHER Classification System

More...PANTHERi		PTHR12390 PTHR12390, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF02602 HEM4, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF69618 SSF69618, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry has 1 described isoform and 14 potential isoforms that are computationally mapped.Show allAlign All

P10746-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MKVLLLKDAK EDDCGQDPYI RELGLYGLEA TLIPVLSFEF LSLPSFSEKL 
        60         70         80         90        100
SHPEDYGGLI FTSPRAVEAA ELCLEQNNKT EVWERSLKEK WNAKSVYVVG 
       110        120        130        140        150
NATASLVSKI GLDTEGETCG NAEKLAEYIC SRESSALPLL FPCGNLKREI 
       160        170        180        190        200
LPKALKDKGI AMESITVYQT VAHPGIQGNL NSYYSQQGVP ASITFFSPSG 
       210        220        230        240        250
LTYSLKHIQE LSGDNIDQIK FAAIGPTTAR ALAAQGLPVS CTAESPTPQA 
       260 
LATGIRKALQ PHGCC
Length:265
Mass (Da):28,628
Last modified:July 1, 1989 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iCEF171401361F61E
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 14 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
Q5T3L8Q5T3L8_HUMAN
Uroporphyrinogen III synthase (Cong...
UROS hCG_1727047
139Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
Q5T3L9Q5T3L9_HUMAN
Uroporphyrinogen-III synthase
UROS
185Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
Q5T3L7Q5T3L7_HUMAN
Uroporphyrinogen-III synthase
UROS
133Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A087X021A0A087X021_HUMAN
Uroporphyrinogen-III synthase
UROS
122Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A087WUV7A0A087WUV7_HUMAN
Uroporphyrinogen-III synthase
UROS
110Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A087WZB7A0A087WZB7_HUMAN
Uroporphyrinogen-III synthase
UROS
68Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A3B3ISM6A0A3B3ISM6_HUMAN
Uroporphyrinogen-III synthase
UROS
292Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A3B3ITJ2A0A3B3ITJ2_HUMAN
Uroporphyrinogen-III synthase
UROS
265Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A3B3IS76A0A3B3IS76_HUMAN
Uroporphyrinogen-III synthase
UROS
151Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A3B3ISL9A0A3B3ISL9_HUMAN
Uroporphyrinogen-III synthase
UROS
160Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
There are more potential isoformsShow all

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0216153V → F in CEP; no residual activity. 1 PublicationCorresponds to variant dbSNP:rs773301339Ensembl.1
Natural variantiVAR_0036744L → F in CEP. 1 PublicationCorresponds to variant dbSNP:rs121908015EnsemblClinVar.1
Natural variantiVAR_00367519Y → C in CEP. 1 Publication1
Natural variantiVAR_02161647S → P in CEP; severe cutaneous lesions; less than 3% wild-type activity. 1 PublicationCorresponds to variant dbSNP:rs397515527EnsemblClinVar.1
Natural variantiVAR_00367653P → L in CEP; severe phenotype; no detectable activity. 1 PublicationCorresponds to variant dbSNP:rs121908013EnsemblClinVar.1
Natural variantiVAR_00367762T → A in CEP; does not affect enzymatic activity. 2 PublicationsCorresponds to variant dbSNP:rs28941775EnsemblClinVar.1
Natural variantiVAR_00367866A → V in CEP; mild phenotype; residual activity. 1 PublicationCorresponds to variant dbSNP:rs28941774EnsemblClinVar.1
Natural variantiVAR_02161769A → T in CEP; less than 2% wild-type activity. 1 Publication1
Natural variantiVAR_00367973C → R in CEP; frequent mutation in Western countries; severe phenotype; no detectable activity. 5 PublicationsCorresponds to variant dbSNP:rs121908012EnsemblClinVar.1
Natural variantiVAR_00368082V → F in CEP; mild phenotype; high residual activity. 1 PublicationCorresponds to variant dbSNP:rs121908016EnsemblClinVar.1
Natural variantiVAR_00368199V → A in CEP. 1 Publication1
Natural variantiVAR_003682104A → V in CEP; residual activity. 1 PublicationCorresponds to variant dbSNP:rs397515528EnsemblClinVar.1
Natural variantiVAR_049345124K → R. Corresponds to variant dbSNP:rs17153561Ensembl.1
Natural variantiVAR_021618129I → T in CEP; no residual activity. 1 Publication1
Natural variantiVAR_049346171V → G. Corresponds to variant dbSNP:rs17173752EnsemblClinVar.1
Natural variantiVAR_013558188G → R in CEP; less than 5% wild-type activity. 1 PublicationCorresponds to variant dbSNP:rs121908017EnsemblClinVar.1
Natural variantiVAR_021619188G → W in CEP; mild phenotype; less than 2% wild-type activity. 1 PublicationCorresponds to variant dbSNP:rs121908017EnsemblClinVar.1
Natural variantiVAR_021620210 – 211EL → HIQSQAQSQAQDN in CEP. 1 Publication2
Natural variantiVAR_003683212S → P in CEP; no residual activity. 1 PublicationCorresponds to variant dbSNP:rs139388833Ensembl.1
Natural variantiVAR_021621219I → S in CEP; moderately-severe phenotype; less than 2% wild-type activity. 1 PublicationCorresponds to variant dbSNP:rs767029901Ensembl.1
Natural variantiVAR_003684225G → S in CEP. 1 PublicationCorresponds to variant dbSNP:rs121908020EnsemblClinVar.1
Natural variantiVAR_003685228T → M in CEP; no detectable activity. 3 PublicationsCorresponds to variant dbSNP:rs121908014EnsemblClinVar.1
Natural variantiVAR_067318237L → P in CEP. 1 PublicationCorresponds to variant dbSNP:rs777433697Ensembl.1
Natural variantiVAR_066247248P → Q in CEP. 1 PublicationCorresponds to variant dbSNP:rs121908021EnsemblClinVar.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
J03824 mRNA Translation: AAA60273.1
AF230665 mRNA Translation: AAG36795.1
AH010036 Genomic DNA Translation: AAG36794.1
AK314896 mRNA Translation: BAG37410.1
AL360176 Genomic DNA No translation available.
CH471066 Genomic DNA Translation: EAW49221.1
CH471066 Genomic DNA Translation: EAW49222.1
BC002573 mRNA Translation: AAH02573.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS7648.1

Protein sequence database of the Protein Information Resource

More...PIRi		A40483

NCBI Reference Sequences

More...RefSeqi		NP_000366.1, NM_000375.2

UniGene gene-oriented nucleotide sequence clusters

More...UniGenei		Hs.501376
Hs.684451

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000368786; ENSP00000357775; ENSG00000188690
ENST00000368797; ENSP00000357787; ENSG00000188690
ENST00000649619; ENSP00000497359; ENSG00000188690

Database of genes from NCBI RefSeq genomes

More...GeneIDi		7390

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:7390

UCSC genome browser

More...UCSCi		uc001liw.5 human

Keywords - Coding sequence diversityi

Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
J03824 mRNA Translation: AAA60273.1
AF230665 mRNA Translation: AAG36795.1
AH010036 Genomic DNA Translation: AAG36794.1
AK314896 mRNA Translation: BAG37410.1
AL360176 Genomic DNA No translation available.
CH471066 Genomic DNA Translation: EAW49221.1
CH471066 Genomic DNA Translation: EAW49222.1
BC002573 mRNA Translation: AAH02573.1
CCDSiCCDS7648.1
PIRiA40483
RefSeqiNP_000366.1, NM_000375.2
UniGeneiHs.501376
Hs.684451

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1JR2X-ray1.84A/B1-265[»]
ProteinModelPortaliP10746
SMRiP10746
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi113236, 13 interactors
IntActiP10746, 2 interactors
STRINGi9606.ENSP00000357775

Chemistry databases

ChEMBLiCHEMBL4433

PTM databases

iPTMnetiP10746
PhosphoSitePlusiP10746

Polymorphism and mutation databases

BioMutaiUROS
DMDMi122849

Proteomic databases

EPDiP10746
jPOSTiP10746
MaxQBiP10746
PaxDbiP10746
PeptideAtlasiP10746
PRIDEiP10746
ProteomicsDBi52644

Protocols and materials databases

The DNASU plasmid repository

More...DNASUi		7390
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000368786; ENSP00000357775; ENSG00000188690
ENST00000368797; ENSP00000357787; ENSG00000188690
ENST00000649619; ENSP00000497359; ENSG00000188690
GeneIDi7390
KEGGihsa:7390
UCSCiuc001liw.5 human

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		7390
DisGeNETi7390
EuPathDBiHostDB:ENSG00000188690.12

GeneCards: human genes, protein and diseases

More...GeneCardsi		UROS
GeneReviewsiUROS
HGNCiHGNC:12592 UROS
HPAiHPA044038
MalaCardsiUROS
MIMi263700 phenotype
606938 gene
neXtProtiNX_P10746
OpenTargetsiENSG00000188690
Orphaneti79277 Congenital erythropoietic porphyria
PharmGKBiPA37222

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG4132 Eukaryota
COG1587 LUCA
GeneTreeiENSGT00390000009853
HOGENOMiHOG000007209
HOVERGENiHBG000492
InParanoidiP10746
KOiK01719
OMAiDQIKFAA
OrthoDBi1557657at2759
PhylomeDBiP10746
TreeFamiTF324092

Enzyme and pathway databases

UniPathwayi
UPA00251;UER00320

BioCyciMetaCyc:HS07569-MONOMER
BRENDAi4.2.1.75 2681
ReactomeiR-HSA-189451 Heme biosynthesis

Miscellaneous databases

EvolutionaryTraceiP10746

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		7390

Protein Ontology

More...PROi		PR:P10746

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000188690 Expressed in 219 organ(s), highest expression level in caudate nucleus
CleanExiHS_UROS
ExpressionAtlasiP10746 baseline and differential
GenevisibleiP10746 HS

Family and domain databases

CDDicd06578 HemD, 1 hit
InterProiView protein in InterPro
IPR036108 4pyrrol_syn_uPrphyn_synt_sf
IPR003754 4pyrrol_synth_uPrphyn_synth
IPR039793 UROS/Hem4
PANTHERiPTHR12390 PTHR12390, 1 hit
PfamiView protein in Pfam
PF02602 HEM4, 1 hit
SUPFAMiSSF69618 SSF69618, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiHEM4_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P10746
Secondary accession number(s): B2RC13, D3DRF7, Q9H2T1
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 1, 1989
Last sequence update: July 1, 1989
Last modified: January 16, 2019
This is version 180 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  7. Human chromosome 10
    Human chromosome 10: entries, gene names and cross-references to MIM
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