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    DSEL dermatan sulfate epimerase like [ Homo sapiens (human) ]

    Gene ID: 92126, updated on 10-Dec-2024

    Summary

    Official Symbol
    DSELprovided by HGNC
    Official Full Name
    dermatan sulfate epimerase likeprovided by HGNC
    Primary source
    HGNC:HGNC:18144
    See related
    Ensembl:ENSG00000171451 MIM:611125; AllianceGenome:HGNC:18144
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    C18orf4; DE-epi2
    Summary
    Predicted to enable chondroitin-glucuronate 5-epimerase activity. Predicted to be involved in chondroitin sulfate metabolic process and dermatan sulfate metabolic process. Predicted to be located in Golgi membrane. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in brain (RPKM 4.8), kidney (RPKM 3.2) and 22 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See DSEL in Genome Data Viewer
    Location:
    18q22.1
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (67506587..67516720, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (67725180..67735312, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (65173824..65183957, complement)

    Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9535 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:64794127-64794883 Neighboring gene microRNA 5011 Neighboring gene ribosomal protein L31 pseudogene 9 Neighboring gene MPRA-validated peak3178 silencer Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:65117908-65118467 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:65118468-65119026 Neighboring gene DSEL antisense RNA 1 Neighboring gene NANOG hESC enhancer GRCh37_chr18:65249667-65250228 Neighboring gene uncharacterized LOC105372174 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:65303557-65304256 Neighboring gene uncharacterized LOC105372173 Neighboring gene family with sequence similarity 32 member D, pseudogene

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Phenotypes

    BioGRID CRISPR Screen Phenotypes (28 hits/1248 screens)

    EBI GWAS Catalog

    Description
    A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB.
    EBI GWAS Catalog
    Gene-Smoking Interactions Identify Several Novel Blood Pressure Loci in the Framingham Heart Study.
    EBI GWAS Catalog
    Genome-wide association study of recurrent early-onset major depressive disorder.
    EBI GWAS Catalog

    Interactions

    General gene information

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in Golgi membrane  

    General protein information

    Preferred Names
    dermatan-sulfate epimerase-like protein
    Names
    NCAG1
    NP_115536.2

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    mRNA and Protein(s)

    1. NM_032160.3NP_115536.2  dermatan-sulfate epimerase-like protein precursor

      Status: VALIDATED

      Source sequence(s)
      AC110597, AV656576
      Consensus CDS
      CCDS11995.2
      UniProtKB/Swiss-Prot
      Q17RH1, Q6P5Z3, Q8IZU8
      Related
      ENSP00000310565.8, ENST00000310045.9

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000018.10 Reference GRCh38.p14 Primary Assembly

      Range
      67506587..67516720 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NW_003315960.1 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      152314..162447 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060942.1 Alternate T2T-CHM13v2.0

      Range
      67725180..67735312 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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