Q9UL01 (DSE_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 29, 2013.
Version 94.
History...
Names·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended 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 |
| ||||
| Organism | Homo sapiens (Human) [Reference proteome] | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo![]() |
Protein attributes
| Sequence length | 958 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is further processed into a mature form. |
| Protein existence | Evidence 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 | |
| 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 |
| Sequence similarities | Belongs to the dermatan-sulfate isomerase family. |
Ontologies
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Signal peptide | 1 – 22 | 22 | Potential | ||||||
| Chain | 23 – 958 | 936 | Dermatan-sulfate epimerase | PRO_0000223311 | |||||
Regions | |||||||||
| Transmembrane | 903 – 923 | 21 | Helical; Potential | ||||||
| Transmembrane | 934 – 954 | 21 | Helical; Potential | ||||||
Amino acid modifications | |||||||||
| Glycosylation | 642 | 1 | N-linked (GlcNAc...) Potential | ||||||
Natural variations | |||||||||
| Natural variant | 25 | 1 | T → I. Corresponds to variant rs10485183 [ dbSNP | Ensembl ]. | VAR_034481 | |||||
| Natural variant | 34 | 1 | P → L. Corresponds to variant rs35548455 [ dbSNP | Ensembl ]. | VAR_053833 | |||||
| Natural variant | 282 | 1 | I → V. Corresponds to variant rs34994230 [ dbSNP | Ensembl ]. | VAR_053834 | |||||
Sequences
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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. 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. |
| + | 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. |
| IPI | IPI01013307. |
| RefSeq | NP_001074445.1. NM_001080976.1. NP_037484.1. NM_013352.2. |
| UniGene | Hs.744135. |
3D structure databases | |
| ProteinModelPortal | Q9UL01. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q9UL01. 2 interactions. |
| STRING | 9606.ENSP00000332151. |
PTM databases | |
| PhosphoSite | Q9UL01. |
Polymorphism databases | |
| DMDM | 74762778. |
Proteomic databases | |
| PaxDb | Q9UL01. |
| PRIDE | Q9UL01. |
Protocols and materials databases | |
| DNASU | 29940. |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000331677; ENSP00000332151; ENSG00000111817. ENST00000359564; ENSP00000352567; ENSG00000111817. ENST00000430252; ENSP00000397597; ENSG00000111817. ENST00000452085; ENSP00000404049; ENSG00000111817. |
| GeneID | 29940. |
| KEGG | hsa:29940. |
| UCSC | uc003pws.3. human. |
Organism-specific databases | |
| CTD | 29940. |
| GeneCards | GC06P116582. |
| HGNC | HGNC:21144. DSE. |
| HPA | HPA014764. |
| MIM | 605942. gene. |
| neXtProt | NX_Q9UL01. |
| PharmGKB | PA162384080. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | NOG19607. |
| HOVERGEN | HBG057715. |
| InParanoid | Q9UL01. |
| KO | K01794. |
| OrthoDB | EOG4FXR6S. |
| PhylomeDB | Q9UL01. |
Enzyme and pathway databases | |
| BioCyc | MetaCyc:HS03472-MONOMER. |
| Reactome | REACT_111217. Metabolism. REACT_116125. Disease. |
| UniPathway | UPA00755. UPA00756. |
Gene expression databases | |
| ArrayExpress | Q9UL01. |
| Bgee | Q9UL01. |
| CleanEx | HS_DSE. |
| Genevestigator | Q9UL01. |
| GermOnline | ENSG00000111817. Homo sapiens. |
Family and domain databases | |
| ProtoNet | Search... |
Other | |
| ChiTaRS | DSE. human. |
| GenomeRNAi | 29940. |
| NextBio | 52587. |
| SOURCE | Search... |
Entry information
| Entry name | DSE_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q9UL01 Secondary accession number(s): Q5R3K6 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
| Disclaimer | Any 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
| Human chromosome 6 Human chromosome 6: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| PATHWAY comments Index of metabolic and biosynthesis pathways |
| SIMILARITY comments Index of protein domains and families |

Clusters with
