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Entry version 154 (02 Jun 2021)
Sequence version 1 (01 May 2000)
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Protein

Dermatan-sulfate epimerase

Gene

DSE

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

Converts D-glucuronic acid to L-iduronic acid (IdoUA) residues. Plays an important role in the biosynthesis of the glycosaminoglycan/mucopolysaccharide dermatan sulfate.

4 Publications

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">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 'Function' section provides information relevant to cofactors. A cofactor is any non-protein substance required for a protein to be catalytically active. Some cofactors are inorganic, such as the metal atoms zinc, iron, and copper in various oxidation states. Others, such as most vitamins, are organic.<p><a href='/help/cofactor' target='_top'>More...</a></p>Cofactori

Mn2+1 PublicationNote: Also has weak activity in the presence of Mg2+ or Ca2+ ions.1 Publication

<p>This subsection of the 'Function' section describes biophysical and chemical properties, such as maximal absorption, kinetic parameters, pH dependence, redox potentials and temperature dependence.<p><a href='/help/biophysicochemical_properties' target='_top'>More...</a></p>Kineticsi

  1. KM=0.12 mM for chondroitin1 Publication

    pH dependencei

    Optimum pH is 5.5.1 Publication

    <p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section describes the metabolic pathway(s) associated with a protein.<p><a href='/help/pathway' target='_top'>More...</a></p>Pathwayi: chondroitin sulfate biosynthesis

    This protein is involved in the pathway chondroitin sulfate biosynthesis, which is part of Glycan metabolism.4 Publications
    View all proteins of this organism that are known to be involved in the pathway chondroitin sulfate biosynthesis and in Glycan metabolism.

    Pathwayi: heparan sulfate biosynthesis

    This protein is involved in the pathway heparan sulfate biosynthesis, which is part of Glycan metabolism.4 Publications
    View all proteins of this organism that are known to be involved in the pathway heparan sulfate biosynthesis and in Glycan metabolism.

    Sites

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section is used for enzymes and indicates the residues directly involved in catalysis.<p><a href='/help/act_site' target='_top'>More...</a></p>Active sitei205Proton donor2 Publications1
    Active sitei2612 Publications1
    <p>This subsection describes interesting single amino acid sites on the sequence that are not defined in any other subsection. This subsection can be displayed in different sections ('Function', 'PTM / Processing', 'Pathology and Biotech') according to its content.<p><a href='/help/site' target='_top'>More...</a></p>Sitei450Critical for catalysis1 Publication1
    <p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the 'Description' field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi452ManganeseCombined sources1 Publication1
    Metal bindingi470ManganeseCombined sources1 Publication1
    Active sitei4732 Publications1
    Metal bindingi481ManganeseCombined sources1 Publication1

    <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

    GO - Biological processi

    <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 functionIsomerase
    LigandManganese, Metal-binding

    Enzyme and pathway databases

    BioCyc Collection of Pathway/Genome Databases

    More...
    BioCyci
    MetaCyc:HS03472-MONOMER

    BRENDA Comprehensive Enzyme Information System

    More...
    BRENDAi
    5.1.3.19, 2681

    Pathway Commons web resource for biological pathway data

    More...
    PathwayCommonsi
    Q9UL01

    Reactome - a knowledgebase of biological pathways and processes

    More...
    Reactomei
    R-HSA-2022923, Dermatan sulfate biosynthesis

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

    More...
    UniPathwayi
    UPA00755
    UPA00756

    <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%5Fand%5Ftaxonomy%5Fsection">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:
    Dermatan-sulfate epimerase (EC:5.1.3.194 Publications)
    Short name:
    DS epimerase
    Alternative name(s):
    Chondroitin-glucuronate 5-epimerase
    Squamous cell carcinoma antigen recognized by T-cells 2
    Short name:
    SART-2
    <p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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:DSE
    Synonyms:SART2
    <p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    <p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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 6

    Organism-specific databases

    Human Gene Nomenclature Database

    More...
    HGNCi
    HGNC:21144, DSE

    Online Mendelian Inheritance in Man (OMIM)

    More...
    MIMi
    605942, gene

    neXtProt; the human protein knowledge platform

    More...
    neXtProti
    NX_Q9UL01

    Eukaryotic Pathogen, Vector and Host Database Resources

    More...
    VEuPathDBi
    HostDB:ENSG00000111817.16

    <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

    Topology

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini23 – 902LumenalCuratedAdd BLAST880
    <p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei903 – 923HelicalSequence analysisAdd BLAST21
    Topological domaini924 – 933CytoplasmicCurated10
    Transmembranei934 – 954HelicalSequence analysisAdd BLAST21
    Topological domaini955 – 958LumenalCurated4

    Keywords - Cellular componenti

    Cytoplasmic vesicle, Endoplasmic reticulum, Golgi apparatus, Membrane, Microsome

    <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

    Ehlers-Danlos syndrome, musculocontractural type 2 (EDSMC2)1 Publication
    The disease is caused by variants affecting the gene represented in this entry.
    Disease descriptionA form of Ehlers-Danlos syndrome characterized by progressive multisystem manifestations, including joint dislocations and deformities, skin hyperextensibility, skin bruisability and fragility with recurrent large subcutaneous hematomas, cardiac valvular, respiratory, gastrointestinal, and ophthalmologic complications. Motor developmental delay is associated with muscle hypoplasia, muscle weakness, and an abnormal muscle fiber pattern in histology in adulthood.
    Related information in OMIM
    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_070911268S → L in EDSMC2; shows a loss of epimerase activity towards partially desulfated dermatan sulfate; patient-derived fibroblasts show also a significant reduction in activity. 1 PublicationCorresponds to variant dbSNP:rs398122361EnsemblClinVar.1

    Mutagenesis

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'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>Mutagenesisi98W → A: Severely impairs catalytic activity. 1 Publication1
    Mutagenesisi147D → A: Impairs catalytic activity. 1 Publication1
    Mutagenesisi203H → A or N: Severely impairs catalytic activity. 1 Publication1
    Mutagenesisi205H → A or N: Abolishes catalytic activity. 1 Publication1
    Mutagenesisi256Y → A: Moderately reduced catalytic activity. 1 Publication1
    Mutagenesisi261Y → A or F: Abolishes catalytic activity. 1 Publication1
    Mutagenesisi331K → A: No significant effect on catalytic activity. 1 Publication1
    Mutagenesisi383P → A: Very low levels of protein expression and no detectable catalytic activity. 1 Publication1
    Mutagenesisi450H → A or N: Abolishes catalytic activity. 1 Publication1
    Mutagenesisi452H → A: Abolishes catalytic activity. 1 Publication1
    Mutagenesisi470E → A: Abolishes catalytic activity. 1 Publication1
    Mutagenesisi473Y → A: Abolishes catalytic activity. 1 Publication1

    Keywords - Diseasei

    Disease variant, Ehlers-Danlos syndrome

    Organism-specific databases

    DisGeNET

    More...
    DisGeNETi
    29940

    MalaCards human disease database

    More...
    MalaCardsi
    DSE
    MIMi615539, phenotype

    Open Targets

    More...
    OpenTargetsi
    ENSG00000111817

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

    More...
    Orphaneti
    2953, Musculocontractural Ehlers-Danlos syndrome

    The Pharmacogenetics and Pharmacogenomics Knowledge Base

    More...
    PharmGKBi
    PA162384080

    Miscellaneous databases

    Pharos NIH Druggable Genome Knowledgebase

    More...
    Pharosi
    Q9UL01, Tbio

    Genetic variation databases

    BioMuta curated single-nucleotide variation and disease association database

    More...
    BioMutai
    DSE

    Domain mapping of disease mutations (DMDM)

    More...
    DMDMi
    74762778

    <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 denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 22Sequence analysisAdd BLAST22
    <p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000022331123 – 958Dermatan-sulfate epimeraseAdd BLAST936

    Amino acid modifications

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi183N-linked (GlcNAc...) (complex) asparagineCombined sources2 Publications1
    Glycosylationi336N-linked (GlcNAc...) (high mannose) asparagineCombined sources2 Publications1
    Glycosylationi411N-linked (GlcNAc...) (complex) asparagineCombined sources1 Publication1
    Glycosylationi642N-linked (GlcNAc...) (complex) asparagineCombined sources2 Publications1
    Glycosylationi648N-linked (GlcNAc...) (paucimannose) asparagineCombined sources2 Publications1

    <p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

    N-glycosylated (PubMed:19004833, Ref. 7). Glycosylation is important for enzymatic activity (PubMed:19004833).2 Publications

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    Encyclopedia of Proteome Dynamics

    More...
    EPDi
    Q9UL01

    jPOST - Japan Proteome Standard Repository/Database

    More...
    jPOSTi
    Q9UL01

    MassIVE - Mass Spectrometry Interactive Virtual Environment

    More...
    MassIVEi
    Q9UL01

    MaxQB - The MaxQuant DataBase

    More...
    MaxQBi
    Q9UL01

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

    More...
    PaxDbi
    Q9UL01

    PeptideAtlas

    More...
    PeptideAtlasi
    Q9UL01

    PRoteomics IDEntifications database

    More...
    PRIDEi
    Q9UL01

    ProteomicsDB: a multi-organism proteome resource

    More...
    ProteomicsDBi
    84921

    PTM databases

    GlyGen: Computational and Informatics Resources for Glycoscience

    More...
    GlyGeni
    Q9UL01, 2 sites

    iPTMnet integrated resource for PTMs in systems biology context

    More...
    iPTMneti
    Q9UL01

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

    More...
    PhosphoSitePlusi
    Q9UL01

    <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

    Ubiquitously expressed with higher expression in kidney and ovary and lower expression in brain, colon and thymus. Also expressed in renal cell carcinomas, brain tumors, and in a part of melanomas and adenocarcinomas from organs other than the breast. Expressed in squamous cell carcinomas (SCC), glioma, and some adenocarcinoma cell lines, but not in breast cancer cell lines or any normal tissues (at protein level).1 Publication

    Gene expression databases

    Bgee dataBase for Gene Expression Evolution

    More...
    Bgeei
    ENSG00000111817, Expressed in calcaneal tendon and 232 other tissues

    ExpressionAtlas, Differential and Baseline Expression

    More...
    ExpressionAtlasi
    Q9UL01, baseline and differential

    Genevisible search portal to normalized and curated expression data from Genevestigator

    More...
    Genevisiblei
    Q9UL01, HS

    Organism-specific databases

    Human Protein Atlas

    More...
    HPAi
    ENSG00000111817, Low tissue specificity

    <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

    Protein-protein interaction databases

    The Biological General Repository for Interaction Datasets (BioGRID)

    More...
    BioGRIDi
    118977, 19 interactors

    Protein interaction database and analysis system

    More...
    IntActi
    Q9UL01, 11 interactors

    Molecular INTeraction database

    More...
    MINTi
    Q9UL01

    STRING: functional protein association networks

    More...
    STRINGi
    9606.ENSP00000332151

    Miscellaneous databases

    RNAct, Protein-RNA interaction predictions for model organisms.

    More...
    RNActi
    Q9UL01, protein

    <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

    1958
    Legend: HelixTurnBeta strandPDB Structure known for this area
    Show more details

    3D structure databases

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

    More...
    SMRi
    Q9UL01

    Database of comparative protein structure models

    More...
    ModBasei
    Search...

    Protein Data Bank in Europe - Knowledge Base

    More...
    PDBe-KBi
    Search...

    <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 dermatan-sulfate isomerase family.Curated

    Keywords - Domaini

    Signal, Transmembrane, Transmembrane helix

    Phylogenomic databases

    evolutionary genealogy of genes: Non-supervised Orthologous Groups

    More...
    eggNOGi
    ENOG502QPWZ, Eukaryota

    Ensembl GeneTree

    More...
    GeneTreei
    ENSGT00390000006522

    The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

    More...
    HOGENOMi
    CLU_308813_0_0_1

    InParanoid: Eukaryotic Ortholog Groups

    More...
    InParanoidi
    Q9UL01

    Identification of Orthologs from Complete Genome Data

    More...
    OMAi
    LCFVSAY

    Database of Orthologous Groups

    More...
    OrthoDBi
    588663at2759

    Database for complete collections of gene phylogenies

    More...
    PhylomeDBi
    Q9UL01

    TreeFam database of animal gene trees

    More...
    TreeFami
    TF334118

    Family and domain databases

    Gene3D Structural and Functional Annotation of Protein Families

    More...
    Gene3Di
    1.50.10.100, 1 hit

    Integrated resource of protein families, domains and functional sites

    More...
    InterProi
    View protein in InterPro
    IPR008929, Chondroitin_lyas
    IPR032518, HepII_N

    Pfam protein domain database

    More...
    Pfami
    View protein in Pfam
    PF16332, DUF4962, 1 hit

    Superfamily database of structural and functional annotation

    More...
    SUPFAMi
    SSF48230, SSF48230, 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%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<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%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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.

    <p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

    This entry has 1 described isoform and 5 potential isoforms that are computationally mapped.Show allAlign All

    Q9UL01-1 [UniParc]FASTAAdd to basket
    « Hide
            10         20         30         40         50
    MRTHTRGAPS VFFIYLLCFV SAYITDENPE VMIPFTNANY DSHPMLYFSR
    60 70 80 90 100
    AEVAELQLRA ASSHEHIAAR LTEAVHTMLS SPLEYLPPWD PKDYSARWNE
    110 120 130 140 150
    IFGNNLGALA MFCVLYPENI EARDMAKDYM ERMAAQPSWL VKDAPWDEVP
    160 170 180 190 200
    LAHSLVGFAT AYDFLYNYLS KTQQEKFLEV IANASGYMYE TSYRRGWGFQ
    210 220 230 240 250
    YLHNHQPTNC MALLTGSLVL MNQGYLQEAY LWTKQVLTIM EKSLVLLREV
    260 270 280 290 300
    TDGSLYEGVA YGSYTTRSLF QYMFLVQRHF NINHFGHPWL KQHFAFMYRT
    310 320 330 340 350
    ILPGFQRTVA IADSNYNWFY GPESQLVFLD KFVMRNGSGN WLADQIRRNR
    360 370 380 390 400
    VVEGPGTPSK GQRWCTLHTE FLWYDGSLKS VPPPDFGTPT LHYFEDWGVV
    410 420 430 440 450
    TYGSALPAEI NRSFLSFKSG KLGGRAIYDI VHRNKYKDWI KGWRNFNAGH
    460 470 480 490 500
    EHPDQNSFTF APNGVPFITE ALYGPKYTFF NNVLMFSPAV SKSCFSPWVG
    510 520 530 540 550
    QVTEDCSSKW SKYKHDLAAS CQGRVVAAEE KNGVVFIRGE GVGAYNPQLN
    560 570 580 590 600
    LKNVQRNLIL LHPQLLLLVD QIHLGEESPL ETAASFFHNV DVPFEETVVD
    610 620 630 640 650
    GVHGAFIRQR DGLYKMYWMD DTGYSEKATF ASVTYPRGYP YNGTNYVNVT
    660 670 680 690 700
    MHLRSPITRA AYLFIGPSID VQSFTVHGDS QQLDVFIATS KHAYATYLWT
    710 720 730 740 750
    GEATGQSAFA QVIADRHKIL FDRNSAIKSS IVPEVKDYAA IVEQNLQHFK
    760 770 780 790 800
    PVFQLLEKQI LSRVRNTASF RKTAERLLRF SDKRQTEEAI DRIFAISQQQ
    810 820 830 840 850
    QQQSKSKKNR RAGKRYKFVD AVPDIFAQIE VNEKKIRQKA QILAQKELPI
    860 870 880 890 900
    DEDEEMKDLL DFADVTYEKH KNGGLIKGRF GQARMVTTTH SRAPSLSASY
    910 920 930 940 950
    TRLFLILNIA IFFVMLAMQL TYFQRAQSLH GQRCLYAVLL IDSCILLWLY

    SSCSQSQC
    Length:958
    Mass (Da):109,773
    Last modified:May 1, 2000 - 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:iA3D05C6194B4D2F9
    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 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
    EntryEntry nameProtein names
    Gene namesLengthAnnotation
    A0A2U3TZJ0A0A2U3TZJ0_HUMAN
    Dermatan-sulfate epimerase
    DSE
    308Annotation 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>
    A0A2R8YE23A0A2R8YE23_HUMAN
    Dermatan-sulfate epimerase
    DSE
    228Annotation 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>
    X6REM1X6REM1_HUMAN
    Dermatan-sulfate epimerase
    DSE
    144Annotation 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>
    A0A2R8Y4N7A0A2R8Y4N7_HUMAN
    Dermatan-sulfate epimerase
    DSE
    136Annotation 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>
    A0A2R8Y6Y4A0A2R8Y6Y4_HUMAN
    Dermatan-sulfate epimerase
    DSE
    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>

    Natural variant

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Natural variantiVAR_03448125T → I. Corresponds to variant dbSNP:rs10485183EnsemblClinVar.1
    Natural variantiVAR_05383334P → L. Corresponds to variant dbSNP:rs35548455EnsemblClinVar.1
    Natural variantiVAR_070911268S → L in EDSMC2; shows a loss of epimerase activity towards partially desulfated dermatan sulfate; patient-derived fibroblasts show also a significant reduction in activity. 1 PublicationCorresponds to variant dbSNP:rs398122361EnsemblClinVar.1
    Natural variantiVAR_053834282I → V. Corresponds to variant dbSNP:rs34994230EnsemblClinVar.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
    AF098066 mRNA Translation: AAF00087.1
    Z84488 Genomic DNA No translation available.
    BC039245 mRNA Translation: AAH39245.1

    The Consensus CDS (CCDS) project

    More...
    CCDSi
    CCDS5107.1

    NCBI Reference Sequences

    More...
    RefSeqi
    NP_001074445.1, NM_001080976.2
    NP_001309866.1, NM_001322937.1
    NP_001309867.1, NM_001322938.1
    NP_001309868.1, NM_001322939.1
    NP_001309869.1, NM_001322940.1
    NP_001309870.1, NM_001322941.1
    NP_001309872.1, NM_001322943.1
    NP_001309873.1, NM_001322944.1
    NP_037484.1, NM_013352.3
    XP_016866285.1, XM_017010796.1

    Genome annotation databases

    Ensembl eukaryotic genome annotation project

    More...
    Ensembli
    ENST00000331677; ENSP00000332151; ENSG00000111817
    ENST00000452085; ENSP00000404049; ENSG00000111817
    ENST00000644252; ENSP00000494147; ENSG00000111817

    Database of genes from NCBI RefSeq genomes

    More...
    GeneIDi
    29940

    KEGG: Kyoto Encyclopedia of Genes and Genomes

    More...
    KEGGi
    hsa:29940

    UCSC genome browser

    More...
    UCSCi
    uc003pws.5, human

    <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
    AF098066 mRNA Translation: AAF00087.1
    Z84488 Genomic DNA No translation available.
    BC039245 mRNA Translation: AAH39245.1
    CCDSiCCDS5107.1
    RefSeqiNP_001074445.1, NM_001080976.2
    NP_001309866.1, NM_001322937.1
    NP_001309867.1, NM_001322938.1
    NP_001309868.1, NM_001322939.1
    NP_001309869.1, NM_001322940.1
    NP_001309870.1, NM_001322941.1
    NP_001309872.1, NM_001322943.1
    NP_001309873.1, NM_001322944.1
    NP_037484.1, NM_013352.3
    XP_016866285.1, XM_017010796.1

    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
    6HZNX-ray2.41A23-775[»]
    SMRiQ9UL01
    ModBaseiSearch...
    PDBe-KBiSearch...

    Protein-protein interaction databases

    BioGRIDi118977, 19 interactors
    IntActiQ9UL01, 11 interactors
    MINTiQ9UL01
    STRINGi9606.ENSP00000332151

    PTM databases

    GlyGeniQ9UL01, 2 sites
    iPTMnetiQ9UL01
    PhosphoSitePlusiQ9UL01

    Genetic variation databases

    BioMutaiDSE
    DMDMi74762778

    Proteomic databases

    EPDiQ9UL01
    jPOSTiQ9UL01
    MassIVEiQ9UL01
    MaxQBiQ9UL01
    PaxDbiQ9UL01
    PeptideAtlasiQ9UL01
    PRIDEiQ9UL01
    ProteomicsDBi84921

    Protocols and materials databases

    Antibodypedia a portal for validated antibodies

    More...
    Antibodypediai
    3106, 80 antibodies

    The DNASU plasmid repository

    More...
    DNASUi
    29940

    Genome annotation databases

    EnsembliENST00000331677; ENSP00000332151; ENSG00000111817
    ENST00000452085; ENSP00000404049; ENSG00000111817
    ENST00000644252; ENSP00000494147; ENSG00000111817
    GeneIDi29940
    KEGGihsa:29940
    UCSCiuc003pws.5, human

    Organism-specific databases

    Comparative Toxicogenomics Database

    More...
    CTDi
    29940
    DisGeNETi29940

    GeneCards: human genes, protein and diseases

    More...
    GeneCardsi
    DSE
    HGNCiHGNC:21144, DSE
    HPAiENSG00000111817, Low tissue specificity
    MalaCardsiDSE
    MIMi605942, gene
    615539, phenotype
    neXtProtiNX_Q9UL01
    OpenTargetsiENSG00000111817
    Orphaneti2953, Musculocontractural Ehlers-Danlos syndrome
    PharmGKBiPA162384080
    VEuPathDBiHostDB:ENSG00000111817.16

    GenAtlas: human gene database

    More...
    GenAtlasi
    Search...

    Phylogenomic databases

    eggNOGiENOG502QPWZ, Eukaryota
    GeneTreeiENSGT00390000006522
    HOGENOMiCLU_308813_0_0_1
    InParanoidiQ9UL01
    OMAiLCFVSAY
    OrthoDBi588663at2759
    PhylomeDBiQ9UL01
    TreeFamiTF334118

    Enzyme and pathway databases

    UniPathwayiUPA00755
    UPA00756
    BioCyciMetaCyc:HS03472-MONOMER
    BRENDAi5.1.3.19, 2681
    PathwayCommonsiQ9UL01
    ReactomeiR-HSA-2022923, Dermatan sulfate biosynthesis

    Miscellaneous databases

    BioGRID ORCS database of CRISPR phenotype screens

    More...
    BioGRID-ORCSi
    29940, 4 hits in 989 CRISPR screens

    ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

    More...
    ChiTaRSi
    DSE, human

    The Gene Wiki collection of pages on human genes and proteins

    More...
    GeneWikii
    DSE_(gene)

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

    More...
    GenomeRNAii
    29940
    PharosiQ9UL01, Tbio

    Protein Ontology

    More...
    PROi
    PR:Q9UL01
    RNActiQ9UL01, protein

    The Stanford Online Universal Resource for Clones and ESTs

    More...
    SOURCEi
    Search...

    Gene expression databases

    BgeeiENSG00000111817, Expressed in calcaneal tendon and 232 other tissues
    ExpressionAtlasiQ9UL01, baseline and differential
    GenevisibleiQ9UL01, HS

    Family and domain databases

    Gene3Di1.50.10.100, 1 hit
    InterProiView protein in InterPro
    IPR008929, Chondroitin_lyas
    IPR032518, HepII_N
    PfamiView protein in Pfam
    PF16332, DUF4962, 1 hit
    SUPFAMiSSF48230, SSF48230, 1 hit

    MobiDB: a database of protein disorder and mobility annotations

    More...
    MobiDBi
    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 nameiDSE_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: Q9UL01
    Secondary accession number(s): Q5R3K6
    <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%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 7, 2006
    Last sequence update: May 1, 2000
    Last modified: June 2, 2021
    This is version 154 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, Reference proteome

    Documents

    1. Human chromosome 6
      Human chromosome 6: entries, gene names and cross-references to MIM
    2. Human entries with genetic variants
      List of human entries with genetic variants
    3. Human variants curated from literature reports
      Index of human variants curated from literature reports
    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. SIMILARITY comments
      Index of protein domains and families
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