DSC1

Summary

DSC1 (desmocollin 1, HGNC:3035) is a protein-coding gene on chromosome 18q12.1, encoding Desmocollin-1 (Q08554). A component of desmosome cell-cell junctions which are required for positive regulation of cellular adhesion.

The protein encoded by this gene is a calcium-dependent glycoprotein that is a member of the desmocollin subfamily of the cadherin superfamily. These desmosomal family members, along with the desmogleins, are found primarily in epithelial cells where they constitute the adhesive proteins of the desmosome cell-cell junction and are required for cell adhesion and desmosome formation. A subtype of IgA pemphigus, a life-threatening autoimmune disease, is characterized by the presence of autoantibodies that target the encoded protein. The desmosomal family members are arranged in two clusters on chromosome 18. Alternative splicing of this gene results in multiple transcript variants. At least one of these variants encodes a preproprotein that is proteolytically processed to generate the mature protein.

Source: NCBI Gene 1823 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 126 total — 2 pathogenic
• Druggable target: yes — 1 molecules with ChEMBL bioactivity
• MANE Select transcript: NM_024421

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:3035
Approved symbol	DSC1
Name	desmocollin 1
Location	18q12.1
Locus type	gene with protein product
Status	Approved
Aliases	CDHF1
Ensembl gene	ENSG00000134765
Ensembl biotype	protein_coding
OMIM	125643
Entrez	1823

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000257197, ENST00000257198

RefSeq mRNA: 2 — MANE Select: NM_024421 NM_004948, NM_024421

CCDS: CCDS11894, CCDS11895

Canonical transcript exons

ENST00000257198 — 16 exons

Exon	Start	End
ENSE00000523707	31140042	31140301
ENSE00000667544	31131594	31131842
ENSE00000667548	31132568	31132689
ENSE00000667549	31133891	31134130
ENSE00000667554	31141999	31142184
ENSE00000667555	31143657	31143791
ENSE00000667556	31145611	31145777
ENSE00000667562	31159445	31159529
ENSE00000796889	31157371	31157573
ENSE00000796890	31156043	31156162
ENSE00000796891	31154774	31154929
ENSE00000796892	31148498	31148642
ENSE00000796897	31139748	31139890
ENSE00000796898	31134572	31134784
ENSE00003555152	31129236	31130711
ENSE00003902555	31162532	31162856

Expression profiles

Bgee: expression breadth ubiquitous, 102 present calls, max score 99.63.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 2.1944 / max 1459.8138, expressed in 80 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
171561	1.3294	45
171563	0.5507	49
171562	0.3143	16

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
upper leg skin	UBERON:0004262	99.63	gold quality
skin of hip	UBERON:0001554	99.51	gold quality
upper arm skin	UBERON:0004263	99.38	gold quality
penis	UBERON:0000989	99.19	gold quality
nipple	UBERON:0002030	98.87	gold quality
mammalian vulva	UBERON:0000997	98.44	gold quality
zone of skin	UBERON:0000014	96.70	gold quality
skin of leg	UBERON:0001511	96.44	gold quality
skin of abdomen	UBERON:0001416	96.33	gold quality
cardiac muscle of right atrium	UBERON:0003379	94.15	gold quality
hair follicle	UBERON:0002073	92.93	gold quality
cardiac atrium	UBERON:0002081	81.72	gold quality
right atrium auricular region	UBERON:0006631	80.63	gold quality
myocardium	UBERON:0002349	78.95	gold quality
gingival epithelium	UBERON:0001949	78.10	gold quality
gingiva	UBERON:0001828	77.75	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	77.23	gold quality
buccal mucosa cell	CL:0002336	75.64	gold quality
tongue squamous epithelium	UBERON:0006919	70.23	gold quality
pigmented layer of retina	UBERON:0001782	67.47	gold quality
vena cava	UBERON:0004087	65.80	gold quality
heart	UBERON:0000948	65.70	gold quality
heart left ventricle	UBERON:0002084	63.68	gold quality
cardiac ventricle	UBERON:0002082	63.45	gold quality
oral cavity	UBERON:0000167	63.25	silver quality
squamous epithelium	UBERON:0006914	62.46	silver quality
heart right ventricle	UBERON:0002080	58.04	gold quality
esophagus squamous epithelium	UBERON:0006920	57.63	gold quality
cervix epithelium	UBERON:0004801	57.56	silver quality
epithelium of esophagus	UBERON:0001976	57.01	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.88

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

104 targeting DSC1, 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-518D-5P	100.00	67.51	979
HSA-MIR-518E-5P	100.00	67.66	954
HSA-MIR-518F-5P	100.00	67.51	979
HSA-MIR-519A-5P	100.00	67.66	954
HSA-MIR-519B-5P	100.00	67.66	954
HSA-MIR-519C-5P	100.00	67.66	954
HSA-MIR-520C-5P	100.00	67.51	979
HSA-MIR-522-5P	100.00	67.66	954
HSA-MIR-523-5P	100.00	67.66	954
HSA-MIR-526A-5P	100.00	67.51	979
HSA-MIR-3185	99.99	68.12	1959
HSA-MIR-23B-5P	99.98	66.07	587
HSA-MIR-7152-3P	99.97	67.47	849
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-495-3P	99.96	72.81	4197
HSA-MIR-559	99.95	72.28	3609
HSA-MIR-548AB	99.95	71.31	3488
HSA-MIR-23A-5P	99.94	65.39	468
HSA-MIR-548A-5P	99.94	71.27	3482
HSA-MIR-548AR-5P	99.94	71.28	3515
HSA-MIR-101-3P	99.94	75.03	2230
HSA-MIR-548AD-5P	99.94	71.23	3502
HSA-MIR-548AE-5P	99.94	71.23	3502
HSA-MIR-548AK	99.94	71.24	3488
HSA-MIR-548AM-5P	99.94	71.24	3488
HSA-MIR-548AP-5P	99.94	71.14	3489
HSA-MIR-548AQ-5P	99.94	71.34	3426
HSA-MIR-548AS-5P	99.94	71.22	3482
HSA-MIR-548AU-5P	99.94	71.24	3488
HSA-MIR-548AY-5P	99.94	71.23	3502

Literature-anchored findings (GeneRIF, showing 11)

• The ultrastructural modifications of desmosomes during terminal differentiation of hair follicles are paralleled by the modulation of the synthesis of desmocollin 1. (PMID:15140019)
• in majority of patients with Netherton syndrome, Dsg1 & Dsc1 were reduced in living layers of epidermis; SCTE-like & SCCE-like activities were increased, suggesting these proteases participate in premature degradation of corneodesmosomal cadherins (PMID:16628198)
• Increased Dsc1 protein is associated with colorectal cancer (PMID:17088906)
• High expression of desmocollin 1 (DSC1) was observed in 41.6%, DSC2 in 58.0%, DSC3 in 61.4%, E-cadherin in 71.4%, CDX2 in 58.0%, PITX1 in 55.0%, CDK4 in 0.2%, TLE1 in 1.3%, Factor H in 42.5%, and MDM2 in 0.2% of colorectal carcinomas. (PMID:22438068)
• Low expression of DSC 1, 2, and 3 was observed in 55, 54, and 79 % of liver metastases. (PMID:23975055)
• Increased expression of DSC1 can promote the occurrence of head and neck squamous cell carcinoma (HNSCC) and is associated with tumor. The increased expression of DSC1 also indicates a poor prognosis of the patients with HNSCC. (PMID:27601166)
• DSC1 expression is significantly downregulated in human masticatory mucosa during wound healing (PMID:28005267)
• desmocollin-1 (DSC1) is validated as a protein connected with lymph node status of luminal A breast cancer, tumor grade, and Her-2 status and catechol-O-methyltransferase is successfully verified as a protein associated with lymph node metastasis of triple negative breast cancer. (PMID:31617665)
• CircRAB11FIP1 promoted autophagy flux of ovarian cancer through DSC1 and miR-129. (PMID:33637694)
• Uniting biobank resources reveals novel genetic pathways modulating susceptibility for atopic dermatitis. (PMID:34454985)
• Desmocollin-1 is associated with pro-metastatic phenotype of luminal A breast cancer cells and is modulated by parthenolide. (PMID:37620794)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	dsc2l	ENSDARG00000039677
mus_musculus	Dsc1	ENSMUSG00000044322
rattus_norvegicus	Dsc1	ENSRNOG00000056258

Paralogs (6): DSG2 (ENSG00000046604), DSC2 (ENSG00000134755), DSG3 (ENSG00000134757), DSG1 (ENSG00000134760), DSC3 (ENSG00000134762), DSG4 (ENSG00000175065)

Protein

Protein identifiers

Desmocollin-1 — Q08554 (reviewed: Q08554)

Alternative names: Cadherin family member 1, Desmosomal glycoprotein 2/3

All UniProt accessions (2): Q08554, Q9HB00

UniProt curated annotations — full annotation on UniProt →

Function. A component of desmosome cell-cell junctions which are required for positive regulation of cellular adhesion. Required for desmosome adhesion strength between the granular layers of the epidermis, as a result moderates epidermal proliferation and differentiation. Is therefore required to maintain postnatal epidermal barrier function and normal hair follicle morphology into adulthood.

Subunit / interactions. Binds to JUP/plakoglobin.

Subcellular location. Cell membrane. Cell junction. Desmosome.

Tissue specificity. Strongly expressed in epidermis, less in lymph node and tongue.

Domain organisation. Calcium may be bound by the cadherin-like repeats. Three calcium ions are usually bound at the interface of each cadherin domain and rigidify the connections, imparting a strong curvature to the full-length ectodomain.

Isoforms (2)

UniProt ID	Names	Canonical?
Q08554-1	1A, DG2	yes
Q08554-2	1B, DG3

RefSeq proteins (2): NP_004939, NP_077739* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002126	Cadherin-like_dom	Domain
IPR009122	Desmosomal_cadherin	Family
IPR014868	Cadherin_pro_dom	Domain
IPR015919	Cadherin-like_sf	Homologous_superfamily
IPR020894	Cadherin_CS	Conserved_site
IPR027397	Catenin-bd_sf	Homologous_superfamily
IPR050971	Cadherin-domain_protein	Family

Pfam: PF00028, PF08758

UniProt features (74 total): strand 41, turn 11, domain 5, sequence variant 3, glycosylation site 2, splice variant 2, helix 2, topological domain 2, signal peptide 1, propeptide 1, modified residue 1, sequence conflict 1, chain 1, transmembrane region 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
5IRY	X-RAY DIFFRACTION	3.1

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q08554-F1	77.16	0.49

Functional residue map

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

Post-translational modifications (1): 385

Glycosylation sites (2): 165, 546

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-6798695	Neutrophil degranulation
R-HSA-6805567	Keratinization
R-HSA-6809371	Formation of the cornified envelope

MSigDB gene sets: 134 (showing top): GSE37336_LY6C_POS_VS_NEG_NAIVE_CD4_TCELL_DN, GOBP_NEGATIVE_REGULATION_OF_EPITHELIAL_CELL_PROLIFERATION, GOBP_MORPHOGENESIS_OF_AN_EPITHELIUM, GOBP_EPITHELIUM_DEVELOPMENT, REACTOME_INNATE_IMMUNE_SYSTEM, GOBP_EPIDERMIS_MORPHOGENESIS, JAEGER_METASTASIS_DN, GOCC_SECRETORY_GRANULE, KAAB_HEART_ATRIUM_VS_VENTRICLE_UP, GOBP_CELLULAR_COMPONENT_MAINTENANCE, CEBPB_01, GOBP_CELL_CELL_ADHESION, GOBP_CELL_JUNCTION_ORGANIZATION, chr18q12, RICKMAN_TUMOR_DIFFERENTIATED_WELL_VS_POORLY_DN

GO Biological Process (7): desmosome maintenance (GO:0002160), homophilic cell-cell adhesion (GO:0007156), hair follicle morphogenesis (GO:0031069), negative regulation of epithelial cell proliferation (GO:0050680), establishment of skin barrier (GO:0061436), cell-cell adhesion (GO:0098609), cell adhesion (GO:0007155)

GO Molecular Function (3): calcium ion binding (GO:0005509), protein binding (GO:0005515), metal ion binding (GO:0046872)

GO Cellular Component (9): cornified envelope (GO:0001533), plasma membrane (GO:0005886), gap junction (GO:0005921), membrane (GO:0016020), desmosome (GO:0030057), extracellular exosome (GO:0070062), ficolin-1-rich granule membrane (GO:0101003), cell junction (GO:0030054), anchoring junction (GO:0070161)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
Innate Immune System	1
Developmental Biology	1
Keratinization	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cell-cell junction	2
cellular anatomical structure	2
desmosome organization	1
cell-cell junction maintenance	1
cell-cell adhesion	1
hair follicle development	1
anatomical structure morphogenesis	1
hair cycle process	1
epidermis morphogenesis	1
negative regulation of cell population proliferation	1
epithelial cell proliferation	1
regulation of epithelial cell proliferation	1
skin epidermis development	1
cell adhesion	1
cellular process	1
metal ion binding	1
binding	1
cation binding	1
plasma membrane	1
membrane	1
cell periphery	1
extracellular vesicle	1
secretory granule membrane	1
tertiary granule	1
ficolin-1-rich granule	1
cell junction	1

Protein interactions and networks

STRING

624 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
DSC1	CDSN	Q15517	995
DSC1	DSG1	Q02413	987
DSC1	DSP	P15924	805
DSC1	KLK7	P49862	647
DSC1	PPL	O60437	638
DSC1	JUP	P14923	636
DSC1	ING1	Q9UK53	613
DSC1	DSG3	P32926	600
DSC1	SPINK5	Q9NQ38	595
DSC1	PKP1	Q13835	586
DSC1	LORICRIN	P23490	577
DSC1	EVPL	Q92817	573
DSC1	FLG2	Q5D862	571
DSC1	FLG	P20930	544
DSC1	DST	Q03001	540

IntAct

60 interactions, top by confidence:

A	B	Type	Score
PIK3CA	PIK3R1	psi-mi:“MI:0914”(association)	0.960
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
CFTR	ESYT2	psi-mi:“MI:0914”(association)	0.710
NCBP2	KPNA3	psi-mi:“MI:0914”(association)	0.640
MAPK7	PFDN6	psi-mi:“MI:0914”(association)	0.640
DSG1	DSC1	psi-mi:“MI:0407”(direct interaction)	0.620
KSR2	POLR3A	psi-mi:“MI:0914”(association)	0.530
CFTR	CNOT1	psi-mi:“MI:0914”(association)	0.480
UBASH3B	BCR/ABL fusion	psi-mi:“MI:0914”(association)	0.460
DSC1	DSG2	psi-mi:“MI:0407”(direct interaction)	0.440
	GNAT3	psi-mi:“MI:0915”(physical association)	0.400
BCAR1	MYO1C	psi-mi:“MI:0914”(association)	0.350
DLD	NFKBIE	psi-mi:“MI:0914”(association)	0.350
DLD	EIF3D	psi-mi:“MI:0914”(association)	0.350
METTL3	TUBAL3	psi-mi:“MI:0914”(association)	0.350
METTL14	HMGB1P1	psi-mi:“MI:0914”(association)	0.350
APBB1	SSPOP	psi-mi:“MI:0914”(association)	0.350
LRRK2		psi-mi:“MI:0914”(association)	0.350
POC5	CEP290	psi-mi:“MI:0914”(association)	0.350
POC5	DSC2	psi-mi:“MI:0914”(association)	0.350
	AP3B1	psi-mi:“MI:0914”(association)	0.350
SLX4	MYO1C	psi-mi:“MI:0914”(association)	0.350
USP1		psi-mi:“MI:0914”(association)	0.350

BioGRID (147): DSC1 (Affinity Capture-MS), DSC1 (Affinity Capture-MS), DSC1 (Affinity Capture-MS), DSC1 (Affinity Capture-MS), DSC1 (Affinity Capture-MS), DSC1 (Affinity Capture-MS), DSC1 (Affinity Capture-MS), DSC1 (Affinity Capture-MS), DSC1 (Affinity Capture-MS), DSC1 (Affinity Capture-MS), DSC1 (Affinity Capture-MS), DSC1 (Affinity Capture-MS), DSC1 (Affinity Capture-MS), DSC1 (Affinity Capture-MS), DSC1 (Affinity Capture-MS)

ESM2 similar proteins: A0A8M2BIB6, F1QSQ0, F8W3X3, H2EQR6, O35902, O54800, O55111, O93319, P32926, P33545, P55280, P55285, P55286, P55287, P55288, P55289, P55292, P55849, P55850, P70407, P70408, P79995, P97291, P97326, Q01107, Q02413, Q02487, Q08554, Q08DJ5, Q13634, Q14126, Q14574, Q28060, Q3SWX5, Q5DWV1, Q5RJH3, Q61495, Q68SP4, Q6W3B0, Q7TMD7

Diamond homologs: A0A8M2BIB6, B0KW95, B2KI42, B4USZ0, F1PAA9, H2EQR6, O18926, O35902, O55075, O55111, O88277, P08641, P09803, P10287, P10288, P12830, P15116, P19022, P19534, P19535, P20310, P22223, P24503, P30944, P32926, P33145, P33146, P33147, P33148, P33150, P33152, P33545, P39038, P55283, P55290, P55291, P55292, P55849, P55850, P79883

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 79 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

GO biological processes:

GO term	Partners	Fold	FDR
cell-cell adhesion	6	9.2×	5e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	2
Likely pathogenic	0
Uncertain significance	113
Likely benign	1
Benign	4

Top pathogenic / likely-pathogenic (2)

Variant ID	HGVS	Classification
151144	GRCh38/hg38 18q12.1(chr18:29365057-31236305)x1	Pathogenic
3242756	NC_000018.9:g.(?28647981)(29178638_?)del	Pathogenic

SpliceAI

2153 predictions. Top by Δscore:

Variant	Effect	Δscore
18:31130712:C:CC	acceptor_gain	1.0000
18:31131592:A:AC	donor_gain	1.0000
18:31131593:C:CC	donor_gain	1.0000
18:31131667:C:CA	donor_gain	1.0000
18:31132566:A:AC	donor_gain	1.0000
18:31132566:A:AT	donor_loss	1.0000
18:31132567:C:CC	donor_gain	1.0000
18:31132575:T:TA	donor_gain	1.0000
18:31132686:ATAC:A	acceptor_gain	1.0000
18:31132687:TAC:T	acceptor_gain	1.0000
18:31132687:TACC:T	acceptor_loss	1.0000
18:31132690:C:CC	acceptor_gain	1.0000
18:31132690:CTAAA:C	acceptor_loss	1.0000
18:31132691:T:C	acceptor_loss	1.0000
18:31134568:ATACC:A	donor_loss	1.0000
18:31134570:A:AC	donor_gain	1.0000
18:31134570:AC:A	donor_gain	1.0000
18:31134570:ACC:A	donor_loss	1.0000
18:31134570:ACCAT:A	donor_gain	1.0000
18:31134571:C:A	donor_loss	1.0000
18:31134571:C:CT	donor_gain	1.0000
18:31134571:CC:C	donor_gain	1.0000
18:31134571:CCAT:C	donor_gain	1.0000
18:31134571:CCATC:C	donor_gain	1.0000
18:31134574:T:TA	donor_gain	1.0000
18:31134781:CCAA:C	acceptor_gain	1.0000
18:31134782:CAA:C	acceptor_gain	1.0000
18:31134782:CAAC:C	acceptor_gain	1.0000
18:31134785:C:CC	acceptor_gain	1.0000
18:31140045:AAG:A	donor_gain	1.0000

AlphaMissense

5893 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
18:31145669:A:G	F294S	0.999
18:31148562:A:C	N236K	0.999
18:31148562:A:T	N236K	0.999
18:31134591:C:A	W619C	0.998
18:31134591:C:G	W619C	0.998
18:31140183:A:T	V460D	0.998
18:31140189:A:T	V458D	0.998
18:31143757:C:G	R325P	0.998
18:31148551:G:T	P240Q	0.998
18:31148560:T:G	D237A	0.998
18:31148570:C:G	D234H	0.998
18:31134058:T:G	D650A	0.997
18:31134593:A:G	W619R	0.997
18:31134593:A:T	W619R	0.997
18:31143687:A:C	N348K	0.997
18:31143687:A:T	N348K	0.997
18:31143706:A:T	I342N	0.997
18:31143754:T:G	D326A	0.997
18:31143755:C:G	D326H	0.997
18:31143772:A:G	L320S	0.997
18:31145642:A:T	I303N	0.997
18:31145709:A:C	Y281D	0.997
18:31145741:T:G	D270A	0.997
18:31145753:G:T	A266D	0.997
18:31148560:T:A	D237V	0.997
18:31148561:C:G	D237H	0.997
18:31148563:T:A	N236I	0.997
18:31148568:A:C	D234E	0.997
18:31148568:A:T	D234E	0.997
18:31148569:T:A	D234V	0.997

dbSNP variants (sampled 300 via entrez): RS1000115610 (18:31137496 C>T), RS1000116086 (18:31163258 T>A,C), RS1000462154 (18:31148341 C>T), RS1000609063 (18:31141067 G>A), RS1000711346 (18:31161966 T>C), RS1000864896 (18:31152613 G>A,T), RS1001139724 (18:31149637 T>C), RS1001147937 (18:31158050 C>T), RS1001200864 (18:31147153 A>T), RS1001318004 (18:31158249 A>G), RS1001385196 (18:31159017 C>T), RS1001441228 (18:31130977 T>C), RS1001487799 (18:31149335 A>G), RS1001515879 (18:31153109 T>C), RS1001747353 (18:31143012 T>C)

Disease associations

OMIM: gene MIM:125643 | disease phenotypes: MIM:610476, MIM:105210

GenCC curated gene-disease

Mondo (2): arrhythmogenic right ventricular dysplasia 11 (MONDO:0012506), amyloidosis, hereditary systemic 1 (MONDO:0971004)

Orphanet (2): ATTRV30M amyloidosis (Orphanet:85447), ATTRV122I amyloidosis (Orphanet:85451)

HPO phenotypes

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

GWAS associations

0 associations (top):

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
C566471	Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL5724910 (SINGLE PROTEIN)

Molecules with ChEMBL bioactivity

1 molecules (phase ≥1), by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 1,538 (via chembl_molecule»patent_compound — counts attach to the compound, not the gene–compound relationship, so off-target/promiscuous molecules can dominate).

Molecule	Name	Phase	Patents
CHEMBL1232461	MOLIBRESIB	2	1,538

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

ChEMBL bioactivities

1 potent at pChembl≥5 of 1 total, top 1 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
5.37	IC50	4310	nM	MOLIBRESIB

PubChem BioAssay actives

1 with measured affinity, of 6 total; 1 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
2-[(4S)-6-(4-chlorophenyl)-8-methoxy-1-methyl-4H-[1,2,4]triazolo[4,3-a][1,4]benzodiazepin-4-yl]-N-ethylacetamide	2179016: Inhibition of DSC1 (unknown origin) incubated for 1 hr by colloidal coomassie staining based LC-MS/MS analysis	ic50	4.3100	uM

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Tobacco Smoke Pollution	decreases expression	3
sodium arsenite	decreases expression, increases abundance, decreases reaction	2
Antimony Potassium Tartrate	decreases expression, increases abundance, decreases reaction	2
4-oxoretinoic acid	decreases expression	1
triphenyl phosphate	affects expression	1
deoxynivalenol	increases expression	1
sodium arsenate	decreases expression, increases abundance	1
ethyl-p-hydroxybenzoate	increases expression	1
terbufos	increases methylation	1
arsenite	decreases expression, increases abundance, decreases reaction	1
perfluorooctanoic acid	decreases expression	1
avobenzone	decreases expression	1
antimonite	decreases expression, increases abundance, decreases reaction	1
perfluoro-n-nonanoic acid	decreases expression	1
U 0126	decreases expression, decreases reaction, increases abundance, increases reaction	1
rofecoxib	affects expression	1
perfluorohexanesulfonic acid	decreases expression	1
2-tert-butyl-9-fluoro-3,6-dihydro-7H-benz(h)imidazo(4,5-f)isoquinoline-7-one	decreases expression, decreases reaction, increases reaction	1
Alitretinoin	decreases expression	1
Acetaminophen	decreases expression	1
Aerosols	decreases expression	1
Arsenic	increases abundance, decreases expression	1
Atrazine	increases expression	1
Benzo(a)pyrene	increases methylation	1
Cadmium	increases abundance, decreases expression	1
Calcitriol	decreases expression, affects cotreatment	1
Fonofos	increases methylation	1
Estradiol	decreases expression	1
Ibuprofen	affects expression	1
Parathion	increases methylation	1

ChEMBL screening assays

6 unique, capped per target: 6 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5697746	Binding	Inhibition of DSC1 (unknown origin) assessed as fold change at 10 uM incubated for 1 hr by colloidal coomassie staining based LC-MS/MS analysis	Inhibition of BET recruitment to chromatin as an effective treatment for MLL-fusion leukaemia. — Nature

Clinical trials (associated diseases)

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