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

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, Apr 2022]
Expression: Broad expression in brain (RPKM 4.8), kidney (RPKM 3.2) and 22 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 18q22.1

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	18	NC_000018.10 (67506587..67516720, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	18	NC_060942.1 (67725180..67735312, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	18	NC_000018.9 (65173824..65183957, complement)

Chromosome 18 - NC_000018.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

DSEL was selected for study in 125 patients with diaphragmatic hernias, as it is involved in the synthesis of decorin, a protein that is required for normal collagen formation and that is upregulated during myogenesis.
Title: A maternally inherited chromosome 18q22.1 deletion in a male with late-presenting diaphragmatic hernia and microphthalmia-evaluation of DSEL as a candidate gene for the diaphragmatic defect.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

PMC156606P3 (e-PCR)
- UniSTS:271410

PMC156606P4 (e-PCR)
- UniSTS:271411

sY3084 (e-PCR)
- UniSTS:515126

D1S1423 (e-PCR)
- UniSTS:149619

MARC_9831-9832:996688635:1 (e-PCR)
- UniSTS:270009

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables chondroitin-glucuronate 5-epimerase activity	IBA Inferred from Biological aspect of Ancestor more info
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
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

Component	Evidence Code	Pubs
located_in Golgi membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: dermatan-sulfate epimerase-like protein

Names: NCAG1

NP_115536.2

EC 5.1.3.19

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.