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Q9UL01

- DSE_HUMAN

UniProt

Q9UL01 - DSE_HUMAN

Protein

Dermatan-sulfate epimerase

Gene

DSE

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 106 (01 Oct 2014)
      Sequence version 1 (01 May 2000)
      Previous versions | rss
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    Functioni

    Converts D-glucuronic acid to L-iduronic acid (IdoUA) residues.1 Publication

    Catalytic activityi

    Chondroitin D-glucuronate = dermatan L-iduronate.

    Pathwayi

    GO - Molecular functioni

    1. chondroitin-glucuronate 5-epimerase activity Source: HGNC

    GO - Biological processi

    1. carbohydrate metabolic process Source: Reactome
    2. chondroitin sulfate biosynthetic process Source: UniProtKB-UniPathway
    3. chondroitin sulfate metabolic process Source: Reactome
    4. dermatan sulfate biosynthetic process Source: UniProtKB
    5. glycosaminoglycan metabolic process Source: Reactome
    6. heparan sulfate proteoglycan biosynthetic process Source: UniProtKB-UniPathway
    7. small molecule metabolic process Source: Reactome

    Keywords - Molecular functioni

    Isomerase

    Enzyme and pathway databases

    BioCyciMetaCyc:HS03472-MONOMER.
    ReactomeiREACT_120800. Dermatan sulfate biosynthesis.
    UniPathwayiUPA00755.
    UPA00756.

    Names & Taxonomyi

    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
    Gene namesi
    Name:DSE
    Synonyms:SART2
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 6

    Organism-specific databases

    HGNCiHGNC:21144. DSE.

    Subcellular locationi

    GO - Cellular componenti

    1. endoplasmic reticulum Source: HGNC
    2. Golgi apparatus Source: HGNC
    3. Golgi membrane Source: Reactome
    4. integral component of membrane Source: UniProtKB-KW

    Keywords - Cellular componenti

    Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Ehlers-Danlos syndrome, musculocontractural type 2 (EDSMC2) [MIM:615539]: A 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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti268 – 2681S → 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 Publication
    VAR_070911

    Keywords - Diseasei

    Disease mutation, Ehlers-Danlos syndrome

    Organism-specific databases

    MIMi615539. phenotype.
    Orphaneti2953. Ehlers-Danlos syndrome, musculocontractural type.
    PharmGKBiPA162384080.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 2222Sequence AnalysisAdd
    BLAST
    Chaini23 – 958936Dermatan-sulfate epimerasePRO_0000223311Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi642 – 6421N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    MaxQBiQ9UL01.
    PaxDbiQ9UL01.
    PRIDEiQ9UL01.

    PTM databases

    PhosphoSiteiQ9UL01.

    Expressioni

    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

    ArrayExpressiQ9UL01.
    BgeeiQ9UL01.
    CleanExiHS_DSE.
    GenevestigatoriQ9UL01.

    Organism-specific databases

    HPAiHPA014764.
    HPA052151.

    Interactioni

    Protein-protein interaction databases

    BioGridi118977. 3 interactions.
    IntActiQ9UL01. 2 interactions.
    STRINGi9606.ENSP00000332151.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9UL01.
    SMRiQ9UL01. Positions 24-581.
    ModBaseiSearch...
    MobiDBiSearch...

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei903 – 92321HelicalSequence AnalysisAdd
    BLAST
    Transmembranei934 – 95421HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the dermatan-sulfate isomerase family.Curated

    Keywords - Domaini

    Signal, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG19607.
    HOVERGENiHBG057715.
    InParanoidiQ9UL01.
    KOiK01794.
    OrthoDBiEOG7RZ5P7.
    PhylomeDBiQ9UL01.
    TreeFamiTF334118.

    Family and domain databases

    InterProiIPR008929. Chondroitin_lyas.
    [Graphical view]
    SUPFAMiSSF48230. SSF48230. 1 hit.

    Sequencei

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    Q9UL01-1 [UniParc]FASTAAdd to Basket

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    MRTHTRGAPS VFFIYLLCFV SAYITDENPE VMIPFTNANY DSHPMLYFSR    50
    AEVAELQLRA ASSHEHIAAR LTEAVHTMLS SPLEYLPPWD PKDYSARWNE 100
    IFGNNLGALA MFCVLYPENI EARDMAKDYM ERMAAQPSWL VKDAPWDEVP 150
    LAHSLVGFAT AYDFLYNYLS KTQQEKFLEV IANASGYMYE TSYRRGWGFQ 200
    YLHNHQPTNC MALLTGSLVL MNQGYLQEAY LWTKQVLTIM EKSLVLLREV 250
    TDGSLYEGVA YGSYTTRSLF QYMFLVQRHF NINHFGHPWL KQHFAFMYRT 300
    ILPGFQRTVA IADSNYNWFY GPESQLVFLD KFVMRNGSGN WLADQIRRNR 350
    VVEGPGTPSK GQRWCTLHTE FLWYDGSLKS VPPPDFGTPT LHYFEDWGVV 400
    TYGSALPAEI NRSFLSFKSG KLGGRAIYDI VHRNKYKDWI KGWRNFNAGH 450
    EHPDQNSFTF APNGVPFITE ALYGPKYTFF NNVLMFSPAV SKSCFSPWVG 500
    QVTEDCSSKW SKYKHDLAAS CQGRVVAAEE KNGVVFIRGE GVGAYNPQLN 550
    LKNVQRNLIL LHPQLLLLVD QIHLGEESPL ETAASFFHNV DVPFEETVVD 600
    GVHGAFIRQR DGLYKMYWMD DTGYSEKATF ASVTYPRGYP YNGTNYVNVT 650
    MHLRSPITRA AYLFIGPSID VQSFTVHGDS QQLDVFIATS KHAYATYLWT 700
    GEATGQSAFA QVIADRHKIL FDRNSAIKSS IVPEVKDYAA IVEQNLQHFK 750
    PVFQLLEKQI LSRVRNTASF RKTAERLLRF SDKRQTEEAI DRIFAISQQQ 800
    QQQSKSKKNR RAGKRYKFVD AVPDIFAQIE VNEKKIRQKA QILAQKELPI 850
    DEDEEMKDLL DFADVTYEKH KNGGLIKGRF GQARMVTTTH SRAPSLSASY 900
    TRLFLILNIA IFFVMLAMQL TYFQRAQSLH GQRCLYAVLL IDSCILLWLY 950
    SSCSQSQC 958
    Length:958
    Mass (Da):109,773
    Last modified:May 1, 2000 - v1
    Checksum:iA3D05C6194B4D2F9
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti25 – 251T → I.
    Corresponds to variant rs10485183 [ dbSNP | Ensembl ].
    VAR_034481
    Natural varianti34 – 341P → L.
    Corresponds to variant rs35548455 [ dbSNP | Ensembl ].
    VAR_053833
    Natural varianti268 – 2681S → 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 Publication
    VAR_070911
    Natural varianti282 – 2821I → V.
    Corresponds to variant rs34994230 [ dbSNP | Ensembl ].
    VAR_053834

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF098066 mRNA. Translation: AAF00087.1.
    Z84488 Genomic DNA. Translation: CAI23407.1.
    Z84488 Genomic DNA. Translation: CAI23408.1.
    BC039245 mRNA. Translation: AAH39245.1.
    CCDSiCCDS5107.1.
    RefSeqiNP_001074445.1. NM_001080976.1.
    NP_037484.1. NM_013352.2.
    XP_005267010.1. XM_005266953.1.
    UniGeneiHs.458358.

    Genome annotation databases

    EnsembliENST00000331677; ENSP00000332151; ENSG00000111817.
    ENST00000359564; ENSP00000352567; ENSG00000111817.
    ENST00000452085; ENSP00000404049; ENSG00000111817.
    GeneIDi29940.
    KEGGihsa:29940.
    UCSCiuc003pws.3. human.

    Polymorphism databases

    DMDMi74762778.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF098066 mRNA. Translation: AAF00087.1 .
    Z84488 Genomic DNA. Translation: CAI23407.1 .
    Z84488 Genomic DNA. Translation: CAI23408.1 .
    BC039245 mRNA. Translation: AAH39245.1 .
    CCDSi CCDS5107.1.
    RefSeqi NP_001074445.1. NM_001080976.1.
    NP_037484.1. NM_013352.2.
    XP_005267010.1. XM_005266953.1.
    UniGenei Hs.458358.

    3D structure databases

    ProteinModelPortali Q9UL01.
    SMRi Q9UL01. Positions 24-581.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 118977. 3 interactions.
    IntActi Q9UL01. 2 interactions.
    STRINGi 9606.ENSP00000332151.

    PTM databases

    PhosphoSitei Q9UL01.

    Polymorphism databases

    DMDMi 74762778.

    Proteomic databases

    MaxQBi Q9UL01.
    PaxDbi Q9UL01.
    PRIDEi Q9UL01.

    Protocols and materials databases

    DNASUi 29940.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000331677 ; ENSP00000332151 ; ENSG00000111817 .
    ENST00000359564 ; ENSP00000352567 ; ENSG00000111817 .
    ENST00000452085 ; ENSP00000404049 ; ENSG00000111817 .
    GeneIDi 29940.
    KEGGi hsa:29940.
    UCSCi uc003pws.3. human.

    Organism-specific databases

    CTDi 29940.
    GeneCardsi GC06P116584.
    HGNCi HGNC:21144. DSE.
    HPAi HPA014764.
    HPA052151.
    MIMi 605942. gene.
    615539. phenotype.
    neXtProti NX_Q9UL01.
    Orphaneti 2953. Ehlers-Danlos syndrome, musculocontractural type.
    PharmGKBi PA162384080.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG19607.
    HOVERGENi HBG057715.
    InParanoidi Q9UL01.
    KOi K01794.
    OrthoDBi EOG7RZ5P7.
    PhylomeDBi Q9UL01.
    TreeFami TF334118.

    Enzyme and pathway databases

    UniPathwayi UPA00755 .
    UPA00756 .
    BioCyci MetaCyc:HS03472-MONOMER.
    Reactomei REACT_120800. Dermatan sulfate biosynthesis.

    Miscellaneous databases

    ChiTaRSi DSE. human.
    GeneWikii DSE_(gene).
    GenomeRNAii 29940.
    NextBioi 52587.
    PROi Q9UL01.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9UL01.
    Bgeei Q9UL01.
    CleanExi HS_DSE.
    Genevestigatori Q9UL01.

    Family and domain databases

    InterProi IPR008929. Chondroitin_lyas.
    [Graphical view ]
    SUPFAMi SSF48230. SSF48230. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. "Identification of a gene coding for a new squamous cell carcinoma antigen recognized by the CTL."
      Nakao M., Shichijo S., Imaizumi T., Inoue Y., Matsunaga K., Yamada A., Kikuchi M., Tsuda N., Ohta K., Takamori S., Yamana H., Fujita H., Itoh K.
      J. Immunol. 164:2565-2574(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY.
    2. "The DNA sequence and analysis of human chromosome 6."
      Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D.
      , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S.
      Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Testis.
    4. "Biosynthesis of dermatan sulfate: chondroitin-glucuronate C5-epimerase is identical to SART2."
      Maccarana M., Olander B., Malmstroem J., Tiedemann K., Aebersold R., Lindahl U., Li J.-P., Malmstroem A.
      J. Biol. Chem. 281:11560-11568(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION.
    5. "Loss of dermatan sulfate epimerase (DSE) function results in musculocontractural Ehlers-Danlos syndrome."
      Mueller T., Mizumoto S., Suresh I., Komatsu Y., Vodopiutz J., Dundar M., Straub V., Lingenhel A., Melmer A., Lechner S., Zschocke J., Sugahara K., Janecke A.R.
      Hum. Mol. Genet. 22:3761-3772(2013) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT EDSMC2 LEU-268, CHARACTERIZATION OF VARIANT EDSMC2 LEU-268.

    Entry informationi

    Entry nameiDSE_HUMAN
    AccessioniPrimary (citable) accession number: Q9UL01
    Secondary accession number(s): Q5R3K6
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: February 7, 2006
    Last sequence update: May 1, 2000
    Last modified: October 1, 2014
    This is version 106 of the entry and version 1 of the sequence. [Complete history]
    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.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 6
      Human chromosome 6: entries, gene names and cross-references to MIM
    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. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3