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

Gene ID: 92126, updated on 5-Jan-2022

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
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, Nov 2021]
Expression
Broad expression in brain (RPKM 4.8), kidney (RPKM 3.2) and 22 other tissues See more
Orthologs
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Genomic context

See DSEL in Genome Data Viewer
Location:
18q22.1
Exon count:
2
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 18 NC_000018.10 (67506587..67516720, complement)
105.20201022 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 microRNA 5011 Neighboring gene ribosomal protein L31 pseudogene 9 Neighboring gene DSEL antisense RNA 1 Neighboring gene uncharacterized LOC105372174 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

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables chondroitin-glucuronate 5-epimerase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables chondroitin-glucuronate 5-epimerase activity TAS
Traceable Author Statement
more info
 
enables sulfotransferase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
involved_in chondroitin sulfate metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in dermatan sulfate biosynthetic process TAS
Traceable Author Statement
more info
 
involved_in dermatan sulfate metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
located_in Golgi membrane TAS
Traceable Author Statement
more info
 
located_in integral component of membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

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

NCBI Reference Sequences (RefSeq)

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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
    CCDS11995.1
    Related
    ENSP00000310565.8, ENST00000310045.9

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000018.10 Reference GRCh38.p13 Primary Assembly

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

Reference GRCh38.p13 ALT_REF_LOCI_1

Genomic

  1. NW_003315960.1 Reference GRCh38.p13 ALT_REF_LOCI_1

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