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Q9UL01 (DSE_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 104. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Dermatan-sulfate epimerase

Short name=DS epimerase
EC=5.1.3.19
Alternative name(s):
Chondroitin-glucuronate 5-epimerase
Squamous cell carcinoma antigen recognized by T-cells 2
Short name=SART-2
Gene names
Name:DSE
Synonyms:SART2
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length958 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Converts D-glucuronic acid to L-iduronic acid (IdoUA) residues. Ref.4

Catalytic activity

Chondroitin D-glucuronate = dermatan L-iduronate.

Pathway

Glycan metabolism; chondroitin sulfate biosynthesis.

Glycan metabolism; heparan sulfate biosynthesis.

Subcellular location

Membrane; Multi-pass membrane protein Potential.

Tissue specificity

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). Ref.1

Involvement in disease

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.5

Sequence similarities

Belongs to the dermatan-sulfate isomerase family.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 2222 Potential
Chain23 – 958936Dermatan-sulfate epimerase
PRO_0000223311

Regions

Transmembrane903 – 92321Helical; Potential
Transmembrane934 – 95421Helical; Potential

Amino acid modifications

Glycosylation6421N-linked (GlcNAc...) Potential

Natural variations

Natural variant251T → I.
Corresponds to variant rs10485183 [ dbSNP | Ensembl ].
VAR_034481
Natural variant341P → L.
Corresponds to variant rs35548455 [ dbSNP | Ensembl ].
VAR_053833
Natural variant2681S → L in EDSMC2; shows a loss of epimerase activity towards partially desulfated dermatan sulfate; patient-derived fibroblasts show also a significant reduction in activity. Ref.5
VAR_070911
Natural variant2821I → V.
Corresponds to variant rs34994230 [ dbSNP | Ensembl ].
VAR_053834

Sequences

Sequence LengthMass (Da)Tools
Q9UL01 [UniParc].

Last modified May 1, 2000. Version 1.
Checksum: A3D05C6194B4D2F9

FASTA958109,773
        10         20         30         40         50         60 
MRTHTRGAPS VFFIYLLCFV SAYITDENPE VMIPFTNANY DSHPMLYFSR AEVAELQLRA 

        70         80         90        100        110        120 
ASSHEHIAAR LTEAVHTMLS SPLEYLPPWD PKDYSARWNE IFGNNLGALA MFCVLYPENI 

       130        140        150        160        170        180 
EARDMAKDYM ERMAAQPSWL VKDAPWDEVP LAHSLVGFAT AYDFLYNYLS KTQQEKFLEV 

       190        200        210        220        230        240 
IANASGYMYE TSYRRGWGFQ YLHNHQPTNC MALLTGSLVL MNQGYLQEAY LWTKQVLTIM 

       250        260        270        280        290        300 
EKSLVLLREV TDGSLYEGVA YGSYTTRSLF QYMFLVQRHF NINHFGHPWL KQHFAFMYRT 

       310        320        330        340        350        360 
ILPGFQRTVA IADSNYNWFY GPESQLVFLD KFVMRNGSGN WLADQIRRNR VVEGPGTPSK 

       370        380        390        400        410        420 
GQRWCTLHTE FLWYDGSLKS VPPPDFGTPT LHYFEDWGVV TYGSALPAEI NRSFLSFKSG 

       430        440        450        460        470        480 
KLGGRAIYDI VHRNKYKDWI KGWRNFNAGH EHPDQNSFTF APNGVPFITE ALYGPKYTFF 

       490        500        510        520        530        540 
NNVLMFSPAV SKSCFSPWVG QVTEDCSSKW SKYKHDLAAS CQGRVVAAEE KNGVVFIRGE 

       550        560        570        580        590        600 
GVGAYNPQLN LKNVQRNLIL LHPQLLLLVD QIHLGEESPL ETAASFFHNV DVPFEETVVD 

       610        620        630        640        650        660 
GVHGAFIRQR DGLYKMYWMD DTGYSEKATF ASVTYPRGYP YNGTNYVNVT MHLRSPITRA 

       670        680        690        700        710        720 
AYLFIGPSID VQSFTVHGDS QQLDVFIATS KHAYATYLWT GEATGQSAFA QVIADRHKIL 

       730        740        750        760        770        780 
FDRNSAIKSS IVPEVKDYAA IVEQNLQHFK PVFQLLEKQI LSRVRNTASF RKTAERLLRF 

       790        800        810        820        830        840 
SDKRQTEEAI DRIFAISQQQ QQQSKSKKNR RAGKRYKFVD AVPDIFAQIE VNEKKIRQKA 

       850        860        870        880        890        900 
QILAQKELPI DEDEEMKDLL DFADVTYEKH KNGGLIKGRF GQARMVTTTH SRAPSLSASY 

       910        920        930        940        950 
TRLFLILNIA IFFVMLAMQL TYFQRAQSLH GQRCLYAVLL IDSCILLWLY SSCSQSQC 

« Hide

References

« Hide 'large scale' references
[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. expand/collapse author list , 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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF098066 mRNA. Translation: AAF00087.1.
Z84488 Genomic DNA. Translation: CAI23407.1.
Z84488 Genomic DNA. Translation: CAI23408.1.
BC039245 mRNA. Translation: AAH39245.1.
CCDSCCDS5107.1.
RefSeqNP_001074445.1. NM_001080976.1.
NP_037484.1. NM_013352.2.
XP_005267010.1. XM_005266953.1.
UniGeneHs.458358.

3D structure databases

ProteinModelPortalQ9UL01.
SMRQ9UL01. Positions 24-581.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid118977. 3 interactions.
IntActQ9UL01. 2 interactions.
STRING9606.ENSP00000332151.

PTM databases

PhosphoSiteQ9UL01.

Polymorphism databases

DMDM74762778.

Proteomic databases

MaxQBQ9UL01.
PaxDbQ9UL01.
PRIDEQ9UL01.

Protocols and materials databases

DNASU29940.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000331677; ENSP00000332151; ENSG00000111817.
ENST00000359564; ENSP00000352567; ENSG00000111817.
ENST00000452085; ENSP00000404049; ENSG00000111817.
GeneID29940.
KEGGhsa:29940.
UCSCuc003pws.3. human.

Organism-specific databases

CTD29940.
GeneCardsGC06P116584.
HGNCHGNC:21144. DSE.
HPAHPA014764.
HPA052151.
MIM605942. gene.
615539. phenotype.
neXtProtNX_Q9UL01.
Orphanet2953. Ehlers-Danlos syndrome, musculocontractural type.
PharmGKBPA162384080.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG19607.
HOVERGENHBG057715.
InParanoidQ9UL01.
KOK01794.
OrthoDBEOG7RZ5P7.
PhylomeDBQ9UL01.
TreeFamTF334118.

Enzyme and pathway databases

BioCycMetaCyc:HS03472-MONOMER.
ReactomeREACT_111217. Metabolism.
REACT_116125. Disease.
UniPathwayUPA00755.
UPA00756.

Gene expression databases

ArrayExpressQ9UL01.
BgeeQ9UL01.
CleanExHS_DSE.
GenevestigatorQ9UL01.

Family and domain databases

InterProIPR008929. Chondroitin_lyas.
[Graphical view]
SUPFAMSSF48230. SSF48230. 1 hit.
ProtoNetSearch...

Other

ChiTaRSDSE. human.
GeneWikiDSE_(gene).
GenomeRNAi29940.
NextBio52587.
PROQ9UL01.
SOURCESearch...

Entry information

Entry nameDSE_HUMAN
AccessionPrimary (citable) accession number: Q9UL01
Secondary accession number(s): Q5R3K6
Entry history
Integrated into UniProtKB/Swiss-Prot: February 7, 2006
Last sequence update: May 1, 2000
Last modified: July 9, 2014
This is version 104 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PATHWAY comments

Index of metabolic and biosynthesis pathways

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 6

Human chromosome 6: entries, gene names and cross-references to MIM