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Q9UL01

- DSE_HUMAN

UniProt

Q9UL01 - DSE_HUMAN

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Protein

Dermatan-sulfate epimerase

Gene

DSE

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

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
Complete GO annotation...

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
Complete GO annotation...

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

BgeeiQ9UL01.
CleanExiHS_DSE.
ExpressionAtlasiQ9UL01. baseline and differential.
GenevestigatoriQ9UL01.

Organism-specific databases

HPAiHPA014764.
HPA052151.

Interactioni

Protein-protein interaction databases

BioGridi118977. 7 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.
GeneTreeiENSGT00390000006522.
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

« 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
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. 7 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 GC06P116585.
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.
GeneTreei ENSGT00390000006522.
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

Bgeei Q9UL01.
CleanExi HS_DSE.
ExpressionAtlasi Q9UL01. baseline and differential.
Genevestigatori Q9UL01.

Family and domain databases

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

Publicationsi

« Hide 'large scale' publications
  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 29, 2014
This is version 107 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