DSEL

Summary

DSEL (dermatan sulfate epimerase like, HGNC:18144) is a protein-coding gene on chromosome 18q22.1, encoding Dermatan-sulfate epimerase-like protein (Q8IZU8).

Predicted to enable chondroitin-glucuronate 5-epimerase activity. Predicted to be located in Golgi membrane.

Source: NCBI Gene 92126 — RefSeq curated summary.

At a glance

• GWAS associations: 10
• Clinical variants (ClinVar): 175 total
• MANE Select transcript: NM_032160

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:18144
Approved symbol	DSEL
Name	dermatan sulfate epimerase like
Location	18q22.1
Locus type	gene with protein product
Status	Approved
Aliases	NCAG1, FLJ11477, DE-epi2
Ensembl gene	ENSG00000171451
Ensembl biotype	protein_coding
OMIM	611125
Entrez	92126

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 3 protein_coding

ENST00000310045, ENST00000933112, ENST00000933113

RefSeq mRNA: 1 — MANE Select: NM_032160 NM_032160

CCDS: CCDS11995

Canonical transcript exons

ENST00000310045 — 2 exons

Exon	Start	End
ENSE00001423507	67506587	67515492
ENSE00001493122	67516361	67516720

Expression profiles

Bgee: expression breadth ubiquitous, 132 present calls, max score 93.10.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 19.6814 / max 445.3525, expressed in 1435 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
172308	19.6814	1435

Top tissues by expression

137 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
stromal cell of endometrium	CL:0002255	93.10	gold quality
corpus callosum	UBERON:0002336	86.45	gold quality
cortical plate	UBERON:0005343	85.71	gold quality
calcaneal tendon	UBERON:0003701	85.60	gold quality
right coronary artery	UBERON:0001625	80.34	gold quality
ventricular zone	UBERON:0003053	78.71	gold quality
descending thoracic aorta	UBERON:0002345	78.36	gold quality
thoracic aorta	UBERON:0001515	77.97	gold quality
left coronary artery	UBERON:0001626	77.85	gold quality
ascending aorta	UBERON:0001496	77.84	gold quality
endometrium	UBERON:0001295	77.82	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	77.13	gold quality
embryo	UBERON:0000922	76.81	gold quality
ganglionic eminence	UBERON:0004023	76.81	gold quality
popliteal artery	UBERON:0002250	75.01	gold quality
tibial artery	UBERON:0007610	74.99	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	74.15	gold quality
placenta	UBERON:0001987	74.14	gold quality
gall bladder	UBERON:0002110	73.06	gold quality
smooth muscle tissue	UBERON:0001135	72.76	gold quality
substantia nigra	UBERON:0002038	72.45	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	71.93	gold quality
amygdala	UBERON:0001876	71.64	gold quality
temporal lobe	UBERON:0001871	71.59	gold quality
subcutaneous adipose tissue	UBERON:0002190	71.43	gold quality
prefrontal cortex	UBERON:0000451	71.40	gold quality
colonic epithelium	UBERON:0000397	71.34	gold quality
adipose tissue	UBERON:0001013	71.18	gold quality
lung	UBERON:0002048	71.03	gold quality
hypothalamus	UBERON:0001898	70.75	gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-GEOD-93593	yes	5.14
E-CURD-135	no	247.90
E-GEOD-36552	no	67.55
E-ANND-3	no	2.47

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

171 targeting DSEL, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-4747-5P	100.00	67.90	2681
HSA-MIR-5196-5P	100.00	67.98	2761
HSA-MIR-1252-5P	100.00	69.80	2774
HSA-MIR-126-5P	100.00	72.71	3180
HSA-MIR-4692	100.00	67.32	2066
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-4533	100.00	69.48	2758
HSA-MIR-6740-5P	100.00	65.64	932
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-4514	99.99	67.10	1870
HSA-MIR-4789-3P	99.99	70.75	2484
HSA-MIR-19A-3P	99.98	75.33	2762
HSA-MIR-19B-3P	99.98	75.44	2754
HSA-MIR-4482-3P	99.98	72.50	3147
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-548P	99.98	72.25	3784
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-4725-3P	99.96	69.53	2520
HSA-MIR-6780B-5P	99.96	69.60	2562
HSA-MIR-1250-3P	99.96	70.04	4038
HSA-MIR-1468-3P	99.96	72.74	3797
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-545-3P	99.95	70.74	2783
HSA-MIR-651-3P	99.94	73.48	5177
HSA-MIR-335-3P	99.93	73.36	4958
HSA-MIR-145-5P	99.92	71.13	1836

Literature-anchored findings (GeneRIF, showing 1)

• 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. (PMID:20358601)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	dsela	ENSDARG00000061461
mus_musculus	Dsel	ENSMUSG00000038702
rattus_norvegicus	Dsel	ENSRNOG00000032307

Paralogs (1): DSE (ENSG00000111817)

Protein

Protein identifiers

Dermatan-sulfate epimerase-like protein — Q8IZU8 (reviewed: Q8IZU8)

All UniProt accessions (1): Q8IZU8

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Membrane.

Tissue specificity. Expressed in different brain areas as well as in multiple other peripheral tissues.

Similarity. Belongs to the dermatan-sulfate isomerase family.

RefSeq proteins (1): NP_115536* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000863	Sulfotransferase_dom	Domain
IPR008929	Chondroitin_lyas	Homologous_superfamily
IPR027417	P-loop_NTPase	Homologous_superfamily
IPR052447	Dermatan-Sulfate_Isomerase	Family

Pfam: PF00685

Enzyme classification (BRENDA):

• EC 5.1.3.19 — chondroitin-glucuronate 5-epimerase (BRENDA: 5 organisms, 18 substrates, 0 inhibitors, 8 Km, 0 kcat entries)

Substrate kinetics (BRENDA)

3 substrates with measured Km, best-characterized 3. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
D-GLUCURONATE	0.0049–0.024	5
D-GLUCURONOSYL RESIDUES	0.067–0.37	2
CHONDROITIN D-GLUCURONOSYL RESIDUE	0.12	1

UniProt features (14 total): glycosylation site 5, sequence variant 4, transmembrane region 2, signal peptide 1, chain 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8IZU8-F1	85.75	0.68

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Glycosylation sites (5): 28, 666, 688, 709, 874

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-2022923	DS-GAG biosynthesis

MSigDB gene sets: 0 (showing top):

GO Biological Process (3): dermatan sulfate proteoglycan biosynthetic process (GO:0050651), chondroitin sulfate proteoglycan metabolic process (GO:0050654), dermatan sulfate proteoglycan metabolic process (GO:0050655)

GO Molecular Function (3): sulfotransferase activity (GO:0008146), chondroitin-glucuronate 5-epimerase activity (GO:0047757), isomerase activity (GO:0016853)

GO Cellular Component (2): Golgi membrane (GO:0000139), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Chondroitin sulfate/dermatan sulfate metabolism	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
proteoglycan metabolic process	2
proteoglycan biosynthetic process	1
dermatan sulfate proteoglycan metabolic process	1
protein O-linked glycosylation via xylose	1
transferase activity, transferring sulphur-containing groups	1
racemase and epimerase activity, acting on carbohydrates and derivatives	1
catalytic activity	1
Golgi apparatus	1
bounding membrane of organelle	1
cellular anatomical structure	1

Protein interactions and networks

STRING

358 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
DSEL	CHST15	Q7LFX5	588
DSEL	CHST14	Q8NCH0	553
DSEL	TMX3	Q96JJ7	542
DSEL	CHST3	Q7LGC8	539
DSEL	CHST13	Q8NET6	539
DSEL	CSGALNACT2	Q8N6G5	496
DSEL	FAM240B	A0A1B0GVZ2	479
DSEL	CHPF2	Q9P2E5	446
DSEL	CHSY1	Q86X52	443
DSEL	CHST12	Q9NRB3	441
DSEL	NDST3	O95803	401
DSEL	CSGALNACT1	Q8TDX6	401
DSEL	CHPF	Q8IZ52	397
DSEL	EXTL1	Q92935	396
DSEL	DNAAF9	Q5TEA3	371

IntAct

2 interactions, top by confidence:

A	B	Type	Score
DSEL	H1-1	psi-mi:“MI:0915”(physical association)	0.400

BioGRID (6): DSEL (Affinity Capture-RNA), DSEL (Proximity Label-MS), DSEL (Affinity Capture-MS), DSEL (Proximity Label-MS), DSEL (Affinity Capture-MS), DSEL (Two-hybrid)

ESM2 similar proteins: A2WYE9, A4HVU6, B0UXS1, B3H5R0, B7F7B9, B8NHD6, D3ZKV9, F4JLK2, O04932, O04933, O22060, P0A3V2, P0A3V3, P25017, P31927, P31928, P49031, P49897, P55073, Q02527, Q04564, Q09109, Q09288, Q0JGK4, Q10470, Q197C5, Q3ED68, Q3USW5, Q41607, Q42652, Q43845, Q43876, Q5I3B1, Q5XV99, Q67WN8, Q6DN07, Q6FLD4, Q6P6G2, Q6QN11, Q6ZHZ1

Diamond homologs: O43916, O88199, O93403, Q0VBN2, Q5RJQ0, Q6DBY9, Q6XQG8, Q7LGC8, Q80WV3, Q8IZU8, Q8NCG5, Q92179, Q9EP78, Q9EQC0, Q9GZS9, Q9GZX3, Q9NS84, Q9QUP4, Q9QZL2, Q9R1I1, Q9Y4C5, P0C2H4, Q8BLI4, Q9UL01

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

175 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	148
Likely benign	18
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

403 predictions. Top by Δscore:

Variant	Effect	Δscore
18:67515488:CTTTT:C	acceptor_gain	1.0000
18:67515493:C:CC	acceptor_gain	0.9700
18:67515983:CGG:C	donor_gain	0.9700
18:67516355:GCTTA:G	donor_loss	0.9600
18:67516356:CTTA:C	donor_loss	0.9600
18:67516357:TTA:T	donor_loss	0.9600
18:67516358:TA:T	donor_loss	0.9600
18:67516359:A:AG	donor_loss	0.9600
18:67516360:C:CT	donor_loss	0.9600
18:67515966:T:TA	donor_gain	0.9500
18:67515397:T:TA	donor_gain	0.9400
18:67514541:T:TG	acceptor_gain	0.9200
18:67514542:C:G	acceptor_gain	0.9200
18:67515499:A:C	acceptor_gain	0.9100
18:67516359:A:AC	donor_gain	0.9100
18:67516360:C:CC	donor_gain	0.9100
18:67515489:TTTT:T	acceptor_gain	0.9000
18:67516360:CCT:C	donor_gain	0.9000
18:67509636:T:TA	donor_gain	0.8700
18:67515212:T:TG	acceptor_gain	0.8600
18:67515490:TTTC:T	acceptor_loss	0.8600
18:67515491:TTCTG:T	acceptor_loss	0.8600
18:67515492:TCTG:T	acceptor_loss	0.8600
18:67515499:A:AC	acceptor_gain	0.8600
18:67515423:A:T	acceptor_gain	0.8500
18:67515491:TT:T	acceptor_gain	0.8500
18:67512334:CAGG:C	donor_gain	0.8400
18:67516064:GCTCA:G	donor_loss	0.8400
18:67516065:CTCA:C	donor_loss	0.8400
18:67516066:TCA:T	donor_loss	0.8400

AlphaMissense

8131 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000207547 (18:67517243 C>T), RS1000297904 (18:67507484 C>A), RS1000630533 (18:67508915 T>A,C), RS1001057109 (18:67518540 T>A,G), RS1001675413 (18:67506722 A>G), RS1001708216 (18:67506510 C>T), RS1001904135 (18:67515018 T>C), RS1001972110 (18:67513276 C>T), RS1001987340 (18:67515575 G>C), RS1002009051 (18:67508298 A>C), RS1002336688 (18:67514605 C>A,G,T), RS1002639657 (18:67511850 C>T), RS1003606418 (18:67516298 C>T), RS1003680302 (18:67509493 A>C), RS1003713117 (18:67509192 G>A)

Disease associations

OMIM: gene MIM:611125 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

10 associations (top):

Study	Trait	p-value
GCST000477_18	Cognitive performance	4.000000e-06
GCST000578_8	Major depressive disorder	2.000000e-07
GCST002587_30	Blood pressure (smoking interaction)	3.000000e-07
GCST003542_78	Night sleep phenotypes	5.000000e-06
GCST003808_4	Non-response to selective serotonin reuptake inhibitors and depression	2.000000e-06
GCST005580_151	Intraocular pressure	6.000000e-09
GCST007576_49	Chronotype	1.000000e-08
GCST009307_15	Spatial memory	7.000000e-06
GCST009391_2081	Metabolite levels	2.000000e-07
GCST009391_2082	Metabolite levels	2.000000e-07

EFO canonical traits (8, from GWAS)

EFO ID	Trait name
EFO:0003926	neuropsychological test
EFO:0006335	systolic blood pressure
EFO:0006526	pack-years measurement
EFO:0005658	response to selective serotonin reuptake inhibitor
EFO:0004695	intraocular pressure measurement
EFO:0008328	chronotype measurement
EFO:0004874	memory performance
EFO:0010373	phosphatidylcholine 32:1 measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

37 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, affects cotreatment, increases expression	6
Nickel	decreases expression	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
Aflatoxin B1	affects expression, decreases methylation	2
GSK-J4	increases expression	1
OTX015	increases expression	1
mivebresib	increases expression	1
methylmercuric chloride	decreases expression, increases expression	1
triphenyl phosphate	affects expression	1
trichostatin A	increases expression	1
sodium arsenite	increases expression	1
butyraldehyde	increases expression	1
nickel sulfate	increases expression	1
perfluorooctane sulfonic acid	decreases expression	1
perfluoro-n-nonanoic acid	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
nutlin 3	affects cotreatment, increases expression	1
dorsomorphin	affects cotreatment, increases expression	1
(+)-JQ1 compound	increases expression	1
Sunitinib	increases expression	1
Zoledronic Acid	decreases expression	1
Air Pollutants	decreases expression, increases abundance	1
Benzo(a)pyrene	increases methylation	1
Calcitriol	decreases expression, affects cotreatment	1
Camptothecin	increases expression	1
Cisplatin	increases expression	1
Dactinomycin	increases expression, affects cotreatment	1
Ozone	increases expression	1
Testosterone	affects cotreatment, decreases expression	1
Tobacco Smoke Pollution	increases expression	1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.