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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.1 Publication

<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: chondroitin sulfate biosynthesis

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

  • chondroitin-glucuronate 5-epimerase activity Source: HGNC

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

Enzyme and pathway databases

BioCyc Collection of Pathway/Genome Databases

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BioCyci
MetaCyc:HS03472-MONOMER

BRENDA Comprehensive Enzyme Information System

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BRENDAi
5.1.3.19 2681

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_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:
Dermatan-sulfate epimerase (EC:5.1.3.19)
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_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:DSE
Synonyms:SART2
<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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<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 6

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000111817.16

Human Gene Nomenclature Database

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HGNCi
HGNC:21144 DSE

Online Mendelian Inheritance in Man (OMIM)

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MIMi
605942 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9UL01

<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

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'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
Transmembranei934 – 954HelicalSequence analysisAdd BLAST21

Keywords - Cellular componenti

Membrane

<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 mutations 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.
See also OMIM:615539
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

Keywords - Diseasei

Disease mutation, Ehlers-Danlos syndrome

Organism-specific databases

DisGeNET

More...
DisGeNETi
29940

MalaCards human disease database

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MalaCardsi
DSE
MIMi615539 phenotype

Open Targets

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OpenTargetsi
ENSG00000111817

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

More...
Orphaneti
2953 Ehlers-Danlos syndrome, musculocontractural type

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA162384080

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
DSE

Domain mapping of disease mutations (DMDM)

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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.<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_processing_section">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>Glycosylationi642N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q9UL01

MaxQB - The MaxQuant DataBase

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MaxQBi
Q9UL01

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

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PaxDbi
Q9UL01

PeptideAtlas

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PeptideAtlasi
Q9UL01

PRoteomics IDEntifications database

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PRIDEi
Q9UL01

ProteomicsDB human proteome resource

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ProteomicsDBi
84921

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q9UL01

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

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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

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Bgeei
ENSG00000111817 Expressed in 221 organ(s), highest expression level in parietal pleura

CleanEx database of gene expression profiles

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CleanExi
HS_DSE

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q9UL01 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q9UL01 HS

Organism-specific databases

Human Protein Atlas

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HPAi
HPA014764
HPA052151

<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)

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BioGridi
118977, 15 interactors

Protein interaction database and analysis system

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IntActi
Q9UL01, 2 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000332151

<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

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
Q9UL01

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
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

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eggNOGi
ENOG410IKEY Eukaryota
ENOG410ZW1M LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00390000006522

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG057715

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q9UL01

KEGG Orthology (KO)

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KOi
K01794

Identification of Orthologs from Complete Genome Data

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OMAi
KEWIKGW

Database of Orthologous Groups

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OrthoDBi
EOG091G01JO

Database for complete collections of gene phylogenies

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PhylomeDBi
Q9UL01

TreeFam database of animal gene trees

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TreeFami
TF334118

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
1.50.10.100, 1 hit

Integrated resource of protein families, domains and functional sites

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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_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.

<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 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
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>
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>
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>
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>

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

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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

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.458358
Hs.547713

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

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GeneIDi
29940

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:29940

UCSC genome browser

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UCSCi
uc003pws.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
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
UniGeneiHs.458358
Hs.547713

3D structure databases

ProteinModelPortaliQ9UL01
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi118977, 15 interactors
IntActiQ9UL01, 2 interactors
STRINGi9606.ENSP00000332151

PTM databases

iPTMnetiQ9UL01
PhosphoSitePlusiQ9UL01

Polymorphism and mutation databases

BioMutaiDSE
DMDMi74762778

Proteomic databases

EPDiQ9UL01
MaxQBiQ9UL01
PaxDbiQ9UL01
PeptideAtlasiQ9UL01
PRIDEiQ9UL01
ProteomicsDBi84921

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
29940
Structural Biology KnowledgebaseSearch...

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
EuPathDBiHostDB:ENSG00000111817.16

GeneCards: human genes, protein and diseases

More...
GeneCardsi
DSE
HGNCiHGNC:21144 DSE
HPAiHPA014764
HPA052151
MalaCardsiDSE
MIMi605942 gene
615539 phenotype
neXtProtiNX_Q9UL01
OpenTargetsiENSG00000111817
Orphaneti2953 Ehlers-Danlos syndrome, musculocontractural type
PharmGKBiPA162384080

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IKEY Eukaryota
ENOG410ZW1M LUCA
GeneTreeiENSGT00390000006522
HOVERGENiHBG057715
InParanoidiQ9UL01
KOiK01794
OMAiKEWIKGW
OrthoDBiEOG091G01JO
PhylomeDBiQ9UL01
TreeFamiTF334118

Enzyme and pathway databases

UniPathwayi
UPA00755

UPA00756

BioCyciMetaCyc:HS03472-MONOMER
BRENDAi5.1.3.19 2681
ReactomeiR-HSA-2022923 Dermatan sulfate biosynthesis

Miscellaneous databases

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

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ChiTaRSi
DSE human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
DSE_(gene)

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

More...
GenomeRNAii
29940

Protein Ontology

More...
PROi
PR:Q9UL01

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000111817 Expressed in 221 organ(s), highest expression level in parietal pleura
CleanExiHS_DSE
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

ProtoNet; Automatic hierarchical classification of proteins

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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 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_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: February 7, 2006
Last sequence update: May 1, 2000
Last modified: December 5, 2018
This is version 138 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

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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