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    DSE dermatan sulfate epimerase [ Homo sapiens (human) ]

    Gene ID: 29940, updated on 25-May-2017
    Official Symbol
    DSEprovided by HGNC
    Official Full Name
    dermatan sulfate epimeraseprovided by HGNC
    Primary source
    HGNC:HGNC:21144
    See related
    Ensembl:ENSG00000111817 Ensembl:ENSG00000237021 Ensembl:ENSG00000240050 MIM:605942; Vega:OTTHUMG00000015434
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    DSEP; DSEPI; SART2; EDSMC2; SART-2; DS-epi1
    Summary
    The protein encoded by this gene is a tumor-rejection antigen. It is localized to the endoplasmic reticulum and functions to convert D-glucuronic acid to L-iduronic acid during the biosynthesis of dermatan sulfate. This antigen possesses tumor epitopes capable of inducing HLA-A24-restricted and tumor-specific cytotoxic T lymphocytes in cancer patients and may be useful for specific immunotherapy. Mutations in this gene cause inmusculocontractural Ehlers-Danlos syndrome. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 9, and a paralogous gene exists on chromosome 18. [provided by RefSeq, Apr 2016]
    Orthologs
    Location:
    6q22.1
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 6 NC_000006.12 (116254152..116441261)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (116601231..116762422)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene 5'-nucleotidase domain containing 1 Neighboring gene collagen type X alpha 1 chain Neighboring gene NIP7, nucleolar pre-rRNA processing protein pseudogene 3 Neighboring gene ribosomal protein S5 pseudogene Neighboring gene TSPY like 4 Neighboring gene ribosomal protein S5 pseudogene 1 Neighboring gene TSPY like 1 Neighboring gene uncharacterized LOC100287467 Neighboring gene keratin 18 pseudogene 22 Neighboring gene chromobox 3 pseudogene 9

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Ehlers-Danlos syndrome, musculocontractural type 2
    MedGen: C3809845 OMIM: 615539 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    A genome-wide search for quantitative trait loci affecting the cortical surface area and thickness of Heschl's gyrus.
    NHGRI GWA Catalog
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    chondroitin-glucuronate 5-epimerase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    chondroitin-glucuronate 5-epimerase activity TAS
    Traceable Author Statement
    more info
     
    Process Evidence Code Pubs
    chondroitin sulfate biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    dermatan sulfate biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    dermatan sulfate biosynthetic process TAS
    Traceable Author Statement
    more info
     
    heparan sulfate proteoglycan biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Golgi membrane TAS
    Traceable Author Statement
    more info
     
    cytosol IDA
    Inferred from Direct Assay
    more info
     
    endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    Preferred Names
    dermatan-sulfate epimerase
    Names
    DS epimerase
    chondroitin-glucuronate 5-epimerase
    squamous cell carcinoma antigen recognized by T-cells 2
    NP_001074445.1
    NP_001309866.1
    NP_001309867.1
    NP_001309868.1
    NP_001309869.1
    NP_001309870.1
    NP_001309872.1
    NP_001309873.1
    NP_037484.1
    XP_016866284.1
    XP_016866285.1
    XP_016866286.1

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_033266.2 RefSeqGene

      Range
      30912..189140
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001080976.2NP_001074445.1  dermatan-sulfate epimerase isoform a precursor

      See identical proteins and their annotated locations for NP_001074445.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2, 3 and 4 all encode the same isoform (a).
      Source sequence(s)
      AF098066, AL832471, BC039245, DC333659
      Consensus CDS
      CCDS5107.1
      UniProtKB/Swiss-Prot
      Q9UL01
      Related
      ENSP00000404049.2, OTTHUMP00000017060, ENST00000452085.7, OTTHUMT00000041941
    2. NM_001322937.1NP_001309866.1  dermatan-sulfate epimerase isoform a precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2, 3 and 4 all encode the same isoform (a).
      Source sequence(s)
      AF098066, AK293872, AL050331, AL832471, BC039245, BX489961
      Consensus CDS
      CCDS5107.1
      UniProtKB/Swiss-Prot
      Q9UL01
      UniProtKB/TrEMBL
      B7Z1T3
    3. NM_001322938.1NP_001309867.1  dermatan-sulfate epimerase isoform a precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. Variants 1, 2, 3 and 4 all encode the same isoform (a).
      Source sequence(s)
      AF098066, AK293872, AL050331, AL832471, BC039245, BX489961
      Consensus CDS
      CCDS5107.1
      UniProtKB/Swiss-Prot
      Q9UL01
      UniProtKB/TrEMBL
      B7Z1T3
    4. NM_001322939.1NP_001309868.1  dermatan-sulfate epimerase isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) contains an alternate 5' exon and it thus differs in the 5' UTR and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (b) has a distinct N-terminus and is longer than isoform a.
      Source sequence(s)
      AF098066, AK301513, AL832471
      UniProtKB/Swiss-Prot
      Q9UL01
      UniProtKB/TrEMBL
      B7Z765
    5. NM_001322940.1NP_001309869.1  dermatan-sulfate epimerase isoform c

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) contains alternate 5' exon structure, and it thus differs in the 5' UTR and initiates translation from a downstream in-frame start codon, compared to variant 1. The encoded isoform (c) is shorter at the N-terminus, compared to isoform a. Both variants 6 and 7 encode isoform c.
      Source sequence(s)
      AF098066, AK293872, AL050331, AL832471, BC039245, BX404448, BX489961
      UniProtKB/Swiss-Prot
      Q9UL01
      UniProtKB/TrEMBL
      B7Z1T3
    6. NM_001322941.1NP_001309870.1  dermatan-sulfate epimerase isoform c

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) uses an alternate splice site in a 5' exon, and it it thus differs in the 5' UTR and initiates translation from a downstream in-frame start codon, compared to variant 1. The encoded isoform (c) is shorter at the N-terminus, compared to isoform a. Both variants 6 and 7 encode isoform c.
      Source sequence(s)
      AF098066, AL832471, AW630671, BX404448
      UniProtKB/Swiss-Prot
      Q9UL01
    7. NM_001322943.1NP_001309872.1  dermatan-sulfate epimerase isoform e precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (9) lacks two alternate exons, resulting in a frameshift in the 3' coding region, compared to variant 1. The encoded isoform (e) has a distinct C-terminus and is shorter than isoform a.
      Source sequence(s)
      AF098066, AL832471, AW630671
      UniProtKB/Swiss-Prot
      Q9UL01
    8. NM_001322944.1NP_001309873.1  dermatan-sulfate epimerase isoform d precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8) lacks an alternate exon, resulting in a frameshift in the 3' coding region, compared to variant 1. The encoded isoform (d) has a distinct C-terminus and is shorter than isoform a.
      Source sequence(s)
      AF098066, AL832471, AW630671
      UniProtKB/Swiss-Prot
      Q9UL01
    9. NM_013352.3NP_037484.1  dermatan-sulfate epimerase isoform a precursor

      See identical proteins and their annotated locations for NP_037484.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes isoform a. Variants 1, 2, 3 and 4 all encode the same isoform (a).
      Source sequence(s)
      AF098066, AL832471, AW630671
      Consensus CDS
      CCDS5107.1
      UniProtKB/Swiss-Prot
      Q9UL01
      Related
      ENSP00000352567.2, ENST00000359564.2

    RNA

    1. NR_136520.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (10) does not share exon structure with variant 1, but it shares its 5' terminal exon with variants 3 and 6 and contains an alternate 3' terminal exon. This variant is represented as non-coding because it lacks the entire ORF found in variant 1.
      Source sequence(s)
      AK093256, AL050331, BX095954, BX489961
      Related
      ENST00000448740.2
    2. NR_136521.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (11) does not share exon structure with variant 1, but it shares its 5' terminal exon with variants 2, 12, 13 and 14, and contains alternate 3' exon structure that is shared with variants 12 and 13. This variant is represented as non-coding because it lacks the entire ORF found in variant 1.
      Source sequence(s)
      AW292369, BC043526, DC333659, HY050986
    3. NR_136522.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (12) does not share exon structure with variant 1, but it shares its 5' terminal exon with variants 2, 11, 13 and 14, and contains alternate 3' exon structure, some of which is shared with variants 11 and 13. This variant is represented as non-coding because it lacks the entire ORF found in variant 1.
      Source sequence(s)
      AW292369, BC043526, BX110619, DC333659, HY012067
    4. NR_136523.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (13) does not share exon structure with variant 1, but it shares its 5' terminal exon with variants 2, 11, 12 and 14, and contains alternate 3' exon structure, some of which is shared with variants 11 and 12. This variant is represented as non-coding because it lacks the entire ORF found in variant 1.
      Source sequence(s)
      AW292369, BC043526, DC333659
      Related
      ENST00000449314.5
    5. NR_136524.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (14) contains an alternate 5' terminal exon, uses an alternate splice site in an internal exon and lacks an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AF098066, AL832471, BC039245, BX404448, DC333659

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p7 Primary Assembly

      Range
      116254152..116441261
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017010795.1XP_016866284.1  dermatan-sulfate epimerase isoform X1

      UniProtKB/TrEMBL
      B7Z765
    2. XM_017010797.1XP_016866286.1  dermatan-sulfate epimerase isoform X3

    3. XM_017010796.1XP_016866285.1  dermatan-sulfate epimerase isoform X2

      UniProtKB/Swiss-Prot
      Q9UL01

    Alternate CHM1_1.1

    Genomic

    1. NC_018917.2 Alternate CHM1_1.1

      Range
      116839208..117023097
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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