ADAMTS1

Summary

ADAMTS1 (ADAM metallopeptidase with thrombospondin type 1 motif 1, HGNC:217) is a protein-coding gene on chromosome 21q21.3, encoding A disintegrin and metalloproteinase with thrombospondin motifs 1 (Q9UHI8). Metalloprotease which cleaves aggrecan, a cartilage proteoglycan, at the ‘1938-Glu-|-Leu-1939’ site (within the chondroitin sulfate attachment domain), and may be involved in its turnover.

This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motif) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The protein encoded by this gene contains two disintegrin loops and three C-terminal TS motifs and has anti-angiogenic activity. The expression of this gene may be associated with various inflammatory processes as well as development of cancer cachexia. This gene is likely to be necessary for normal growth, fertility, and organ morphology and function.

Source: NCBI Gene 9510 — RefSeq curated summary.

At a glance

• Gene–disease (curated): autosomal dominant prognathism (Limited, GenCC) — +1 more curated relationship
• GWAS associations: 6
• Clinical variants (ClinVar): 183 total — 13 pathogenic, 4 likely-pathogenic
• Druggable target: yes
• MANE Select transcript: NM_006988

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:217
Approved symbol	ADAMTS1
Name	ADAM metallopeptidase with thrombospondin type 1 motif 1
Location	21q21.3
Locus type	gene with protein product
Status	Approved
Aliases	C3-C5, METH1, KIAA1346
Ensembl gene	ENSG00000154734
Ensembl biotype	protein_coding
OMIM	605174
Entrez	9510

Gene structure

Transcript identifiers

Ensembl transcripts: 11 — 7 protein_coding, 3 retained_intron, 1 nonsense_mediated_decay

ENST00000284984, ENST00000451462, ENST00000464589, ENST00000492656, ENST00000517777, ENST00000676955, ENST00000677958, ENST00000678221, ENST00000679152, ENST00000679316, ENST00000945454

RefSeq mRNA: 1 — MANE Select: NM_006988 NM_006988

CCDS: CCDS33524

Canonical transcript exons

ENST00000284984 — 9 exons

Exon	Start	End
ENSE00001017373	26841858	26841990
ENSE00001017374	26844225	26845409
ENSE00001017378	26840276	26840562
ENSE00001017382	26840998	26841165
ENSE00001247753	26839875	26840061
ENSE00003493504	26838439	26838614
ENSE00003588221	26839587	26839762
ENSE00003625470	26842339	26842685
ENSE00003672508	26835755	26838278

Expression profiles

Bgee: expression breadth ubiquitous, 283 present calls, max score 99.33.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 69.0570 / max 1068.8505, expressed in 1384 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
190023	68.7963	1381
190017	0.1533	93
190016	0.0699	28
190015	0.0374	10

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right ovary	UBERON:0002118	99.33	gold quality
left uterine tube	UBERON:0001303	99.32	gold quality
vena cava	UBERON:0004087	99.21	gold quality
left ovary	UBERON:0002119	99.19	gold quality
pericardium	UBERON:0002407	99.09	gold quality
mucosa of stomach	UBERON:0001199	99.01	gold quality
decidua	UBERON:0002450	98.96	gold quality
tibial artery	UBERON:0007610	98.80	gold quality
mucosa of urinary bladder	UBERON:0001259	98.79	gold quality
popliteal artery	UBERON:0002250	98.79	gold quality
artery	UBERON:0001637	98.75	gold quality
peritoneum	UBERON:0002358	98.72	gold quality
omental fat pad	UBERON:0010414	98.72	gold quality
aorta	UBERON:0000947	98.67	gold quality
ascending aorta	UBERON:0001496	98.57	gold quality
left coronary artery	UBERON:0001626	98.56	gold quality
gall bladder	UBERON:0002110	98.55	gold quality
thoracic aorta	UBERON:0001515	98.54	gold quality
coronary artery	UBERON:0001621	98.53	gold quality
smooth muscle tissue	UBERON:0001135	98.52	gold quality
saphenous vein	UBERON:0007318	98.33	gold quality
placenta	UBERON:0001987	98.24	gold quality
right coronary artery	UBERON:0001625	98.17	gold quality
parietal pleura	UBERON:0002400	98.13	gold quality
urethra	UBERON:0000057	98.09	gold quality
stromal cell of endometrium	CL:0002255	97.83	gold quality
descending thoracic aorta	UBERON:0002345	97.73	gold quality
adipose tissue of abdominal region	UBERON:0007808	97.72	gold quality
lower lobe of lung	UBERON:0008949	97.70	gold quality
nerve	UBERON:0001021	97.68	gold quality

Single-cell (SCXA)

Detected in 13 experiment(s), a significant marker in 11.

Experiment	Marker?	Max mean expression
E-HCAD-36	yes	1793.72
E-GEOD-114530	yes	540.30
E-MTAB-10283	yes	216.33
E-MTAB-3929	yes	76.58
E-MTAB-6701	yes	53.64
E-GEOD-135922	yes	49.00
E-HCAD-1	yes	34.75
E-MTAB-9543	yes	15.50
E-CURD-46	yes	11.22
E-GEOD-134144	yes	9.10
E-GEOD-124858	no	1757.08
E-GEOD-110499	no	205.52
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): ERG, EZH2, HNF4A, PGR, SP1

miRNA regulators (miRDB)

101 targeting ADAMTS1, 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-340-5P	100.00	72.50	4437
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-4533	100.00	69.48	2758
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-4500	99.99	72.72	2367
HSA-MIR-568	99.98	69.86	2084
HSA-MIR-4803	99.98	71.99	3117
HSA-MIR-3688-3P	99.97	72.02	2834
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-559	99.95	72.28	3609
HSA-MIR-548AB	99.95	71.31	3488
HSA-MIR-548AP-5P	99.94	71.14	3489
HSA-MIR-548J-5P	99.94	71.14	3489
HSA-MIR-548A-5P	99.94	71.27	3482
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-548AQ-5P	99.94	71.34	3426
HSA-MIR-548AR-5P	99.94	71.28	3515
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
HSA-MIR-548B-5P	99.94	71.23	3502
HSA-MIR-548BB-5P	99.94	71.27	3509

Literature-anchored findings (GeneRIF, showing 40)

• extracellular matrix degrading enzyme (PMID:11831030)
• properties investigated through protein engineering (PMID:12054626)
• cleaves aggrecan at multiple sites and is differentially inhibited by metalloproteinase inhibitors (PMID:12054629)
• ADAMTS1 significantly blocks VEGFR2 phosphorylation due to direct binding and sequestration of VEGF165, with consequent suppression of endothelial cell proliferation. (PMID:12716911)
• ADAMTS-1 is the first matrix-degrading enzyme downregulated by the catabolic factor IL-1beta in vitro. (PMID:14760803)
• ADAMTS-1 expression was significantly reduced in the presence of HDL subfraction 3. (PMID:14996435)
• results suggest that conserved residues other than the furin cleavage site in the prodomain of a disintegrin and metalloprotease with thrombospondin type I motif(ADAMTS-1) are involved in its biosynthesis (PMID:15184385)
• negative effect of TGFbeta1 on ADAMTS-1, -5, -9, and -15 coupled with increases in their inhibitor, TIMP-3 may aid the accumulation of versican in the stromal compartment of the prostate in BPH and prostate cancer (PMID:15599946)
• ADAMTS-1-immunoreactivity was manifold increased in brain with Down syndrome and neurodegeneration. (PMID:15661359)
• specific distribution pattern of ADAMTS-1 in a variety of organs during embryogenesis suggests a role of the molecule in tissue remodelling, vasculogenesis and angiogenesis (PMID:15878613)
• Expression of ADAMTS1 was downregulated by cAMP in normal, but not in SV40-transformed cells, suggesting that in normal cells epiregulin and amphiregulin activity is downregulated by a feedback mechanism that may be lost in SV40-transformed cells (PMID:15967414)
• fibulin-1 is a new regulator of ADAMTS-1-mediated proteoglycan proteolysis and may play an important role in proteoglycan turnover in tissues where there is overlapping expression (PMID:16061471)
• Overexpression of ADAMTS-1 promotes pulmonary metastasis of mammary carcinoma and Lewis lung carcinoma cells and that a proteinase-dead mutant of ADAMTS-1 inhibits their metastasis (PMID:16314835)
• Has a previously unreported gelatinolytic activity. (PMID:16328961)
• results provide evidence for an overexpression of ADAM-12 and a lower expression of ADAMTS-1 in non-small-cell lung cancer suggest that these proteases play different functions in cancer progression (PMID:16495931)
• role of TFPI-2 as a maintenance factor of extracellular remodeling suggests the indirect function of ADAMTS1 as an additional homeostatic player by its ability to alter the extracellular location of TFPI-2 (PMID:16641089)
• ADAMTS-1 expression is associated with decidualization of the endometrial stroma in vivo. IL-1beta increased whereas TGF-beta1 decreased ADAMTS-1 mRNA and protein levels in decidual stromal cell cultures in a concentration- and time-dependent manner. (PMID:16675485)
• Hypermethylation was subsequently identified for three of four analyzed genes, ADAMTS1 (85%), CRABP1 (90%), and NR3C1 (35%). (PMID:17167179)
• These results show that ADAMTS-1 has both the opportunity in bone and capability in vitro to induce collagen type I processing, together with a positive influence on osteoblastic three-dimensional growth. (PMID:17560840)
• Results show that crystal structures contain catalytic and disintegrin-like domains, both in the inhibitor-free form and in complex with the inhibitor marimastat. (PMID:17897672)
• Expression of several genes associated with angiogenesis was altered during transition into androgen-independency. Among these, a significant decrease was found for ADAMTS1, whose expression inversely correlated with microvessel density. (PMID:18076023)
• ADAMTS-1 was significantly upregulated in thrombosed hemodialysis grafts. (PMID:18192475)
• ADAMTS1 proteolytic action mimics the outcome of genetic deletion of this proteoglycan with regards to focal adhesion. Findings suggest that the shedding of syndecan-4 by ADAMTS1 disrupts cell adhesion and promotes cell migration. (PMID:18775505)
• These data suggest the involvement of HDAC6 and SP1 in the HDACi-induced expression of angiostatic ADAMTS1. (PMID:19007777)
• catalytically active ADAMTS-1 contribution to tumor development, which consists of the recruitment of fibroblasts involved in tumor growth and tumor-associated stroma remodeling. (PMID:19010931)
• results suggest that aberrant methylation of ADAMTS1 frequently occurs in non-small cell lung cancer (NSCLC), and that it may play a role in the pathogenesis of NSCLC (PMID:19027488)
• ADAMTS1 is transiently induced by hypoxia in endothelial cells, and its transcription is mediated by HIF-1 binding (PMID:19349275)
• These results demonstrate that the ADAMTS1 3’-untranslated region may regulate the stability and expression of ADAMTS1 mRNA. (PMID:19404339)
• disintegrin and metalloproteinase with thrombospondin motifs (ADAMTS1) and matrix metalloproteinase-1 (MMP1), orchestrate a paracrine signaling cascade to modulate the bone microenvironment in favor of osteoclastogenesis and bone metastasis (PMID:19608765)
• cleavage of semaphorin 3C induced by ADAMTS1 promotes the migration of breast cancer cells, indicating that the co-expression of these molecules in tumors may contribute to the metastatic program (PMID:19915008)
• Study documents the expression of ADAMTS1 in aggressive and highly plastic melanoma and Ewing sarcoma cells. Inhibiting ADAMTS1 compromised the endothelial mimetic attributes observed. (PMID:20484033)
• ADAMTS1 is an important regulatory factor of angiogenesis and tumor growth in prostate tumors, where modified ADAMTS1 expression resulted in markedly changed blood vessel morphology, possibly related to altered thrombospondin 1 levels. (PMID:20546609)
• The correlation between its expression in cumulus granulosa cells and oocyte fertilization capacity suggests a role for ADAMTS-1 in human cumulus function (PMID:20655981)
• AHR, a novel acute hypoxia-response sequence, drives reporter gene expression under hypoxia in vitro and in vivo. (PMID:20795945)
• ADAMTS1 expression is elevated in endometrial adenocarcinoma (PMID:20840749)
• ADAMTS-1 was present in human coronary atherosclerotic plaques; ADAMDTS-1 was differentially expressed between acute myocardial infarction and stable angina; and ADAMTS-1 immunopositive cells were mainly macrophages. (PMID:21345877)
• variable effects that chemical modifications/mutations in vWF have on proteolysis by ADAMTS13 (PMID:21937160)
• Pericyte-derived TIMP3 stabilized and ADAMTS1 destabilized the capillary tubular networks (PMID:22383695)
• Data show that the expression of ADAMTS4, 9, 16 and was up-regulated during chondrogenesis, ADAMTS1 and 5 were down-regulated. (PMID:22562232)
• study showed that ADAMTS-1, -4, -5 and TIMP3 were expressed at differential levels in hepatocellular carcinoma cell lines (PMID:22735305)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	adamts1	ENSDARG00000103519
mus_musculus	Adamts1	ENSMUSG00000022893
rattus_norvegicus	Adamts1	ENSRNOG00000001607

Paralogs (25): ADAMTS6 (ENSG00000049192), ADAMTS2 (ENSG00000087116), PAPLN (ENSG00000100767), ADAMTS8 (ENSG00000134917), ADAMTS7 (ENSG00000136378), ADAMTS14 (ENSG00000138316), ADAMTS17 (ENSG00000140470), ADAMTS18 (ENSG00000140873), ADAMTS10 (ENSG00000142303), ADAMTSL4 (ENSG00000143382), ADAMTS16 (ENSG00000145536), ADAMTS19 (ENSG00000145808), ADAMTS12 (ENSG00000151388), ADAMTS5 (ENSG00000154736), ADAMTS3 (ENSG00000156140), ADAMTSL3 (ENSG00000156218), ADAMTS4 (ENSG00000158859), ADAMTS13 (ENSG00000160323), ADAMTS9 (ENSG00000163638), ADAMTS15 (ENSG00000166106), ADAMTS20 (ENSG00000173157), ADAMTSL1 (ENSG00000178031), ADAMTSL5 (ENSG00000185761), THSD4 (ENSG00000187720), ADAMTSL2 (ENSG00000197859)

Protein

Protein identifiers

A disintegrin and metalloproteinase with thrombospondin motifs 1 — Q9UHI8 (reviewed: Q9UHI8)

Alternative names: METH-1

All UniProt accessions (5): Q9UHI8, A0A7I2V400, A0A7I2V5J1, A0A7I2YQL5, E5RI60

UniProt curated annotations — full annotation on UniProt →

Function. Metalloprotease which cleaves aggrecan, a cartilage proteoglycan, at the ‘1938-Glu-|-Leu-1939’ site (within the chondroitin sulfate attachment domain), and may be involved in its turnover. Also cleaves COMP. Has angiogenic inhibitor activity. May play a critical role in follicular rupture.

Subcellular location. Secreted. Extracellular space. Extracellular matrix.

Post-translational modifications. The precursor is cleaved by a furin endopeptidase. Glycosylated. Can be O-fucosylated by POFUT2 on a serine or a threonine residue found within the consensus sequence C1-X(2)-(S/T)-C2-G of the TSP type-1 repeat domains where C1 and C2 are the first and second cysteine residue of the repeat, respectively. Fucosylated repeats can then be further glycosylated by the addition of a beta-1,3-glucose residue by the glucosyltransferase, B3GALTL. Fucosylation mediates the efficient secretion of ADAMTS family members. Can also be C-glycosylated with one or two mannose molecules on tryptophan residues within the consensus sequence W-X-X-W of the TPRs, and N-glycosylated. These other glycosylations can also facilitate secretion.

Cofactor. Binds 1 zinc ion per subunit.

Domain organisation. The spacer domain and the TSP type-1 domains are important for a tight interaction with the extracellular matrix. The conserved cysteine present in the cysteine-switch motif binds the catalytic zinc ion, thus inhibiting the enzyme. The dissociation of the cysteine from the zinc ion upon the activation-peptide release activates the enzyme.

RefSeq proteins (1): NP_008919* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000884	TSP1_rpt	Repeat
IPR001590	Peptidase_M12B	Domain
IPR002870	Peptidase_M12B_N	Domain
IPR006586	ADAM_Cys-rich	Domain
IPR010294	ADAMTS_spacer1	Domain
IPR013273	ADAMTS/ADAMTS-like	Family
IPR013274	Pept_M12B_ADAM-TS1	Family
IPR024079	MetalloPept_cat_dom_sf	Homologous_superfamily
IPR036383	TSP1_rpt_sf	Homologous_superfamily
IPR041645	ADAMTS_CR_2	Domain
IPR045371	ADAMTS_CR_3	Domain
IPR050439	ADAMTS_ADAMTS-like	Family

Pfam: PF00090, PF01421, PF01562, PF05986, PF17771, PF19030, PF19236

Enzyme classification (BRENDA):

• EC 3.4.24.B11 — (BRENDA: organisms, substrates, inhibitors, Km, kcat entries)
• EC 3.4.24.B12 — (BRENDA: organisms, substrates, inhibitors, Km, kcat entries)

UniProt features (69 total): helix 13, binding site 12, disulfide bond 11, strand 9, domain 5, region of interest 3, glycosylation site 3, turn 3, compositionally biased region 2, sequence conflict 2, signal peptide 1, propeptide 1, short sequence motif 1, active site 1, chain 1, sequence variant 1

Structure

Experimental structures (PDB)

4 structures.

PDB	Method	Resolution (Å)
2V4B	X-RAY DIFFRACTION	2
2JIH	X-RAY DIFFRACTION	2.1
3Q2G	X-RAY DIFFRACTION	2.3
3Q2H	X-RAY DIFFRACTION	2.33

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9UHI8-F1	78.30	0.41

Functional residue map

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

Catalytic / active sites (1): 402

Ligand- & substrate-binding residues (12): 198 (in inhibited form); 261; 261; 344; 344; 351; 401; 405; 411; 462; 465; 465

Disulfide bonds (11): 333–385, 362–367, 379–462, 417–446, 488–511, 499–521, 506–540, 534–545, 571–608, 575–613, 586–598

Glycosylation sites (3): 547, 720, 764

Function

Pathways and Gene Ontology

Reactome pathways

11 pathways

ID	Pathway
R-HSA-1474228	Degradation of the extracellular matrix
R-HSA-5083635	Defective B3GALTL causes PpS
R-HSA-5173214	O-glycosylation of TSR domain-containing proteins
R-HSA-1474244	Extracellular matrix organization
R-HSA-1643685	Disease
R-HSA-3781865	Diseases of glycosylation
R-HSA-3906995	Diseases associated with O-glycosylation of proteins
R-HSA-392499	Metabolism of proteins
R-HSA-5173105	O-linked glycosylation
R-HSA-5668914	Diseases of metabolism
R-HSA-597592	Post-translational protein modification

MSigDB gene sets: 314 (showing top): GOBP_CARDIAC_CHAMBER_DEVELOPMENT, BEGUM_TARGETS_OF_PAX3_FOXO1_FUSION_UP, WALLACE_PROSTATE_CANCER_RACE_UP, GOBP_HEART_TRABECULA_MORPHOGENESIS, GOMF_METALLOPEPTIDASE_ACTIVITY, GOBP_CARDIAC_CHAMBER_MORPHOGENESIS, FISCHER_G1_S_CELL_CYCLE, GOBP_CELL_CYCLE_PHASE_TRANSITION, GOBP_POSITIVE_REGULATION_OF_MITOTIC_CELL_CYCLE, KYNG_DNA_DAMAGE_DN, KYNG_DNA_DAMAGE_BY_4NQO, CAGGTCC_MIR492, GOBP_MUSCLE_CELL_PROLIFERATION, GOBP_POSITIVE_REGULATION_OF_G1_S_TRANSITION_OF_MITOTIC_CELL_CYCLE, PICCALUGA_ANGIOIMMUNOBLASTIC_LYMPHOMA_UP

GO Biological Process (11): ovulation from ovarian follicle (GO:0001542), kidney development (GO:0001822), proteolysis (GO:0006508), integrin-mediated signaling pathway (GO:0007229), negative regulation of cell population proliferation (GO:0008285), negative regulation of angiogenesis (GO:0016525), extracellular matrix organization (GO:0030198), heart trabecula formation (GO:0060347), positive regulation of G1/S transition of mitotic cell cycle (GO:1900087), positive regulation of vascular associated smooth muscle cell proliferation (GO:1904707), positive regulation of vascular associated smooth muscle cell migration (GO:1904754)

GO Molecular Function (8): metalloendopeptidase activity (GO:0004222), heparin binding (GO:0008201), metallopeptidase activity (GO:0008237), zinc ion binding (GO:0008270), protein binding (GO:0005515), peptidase activity (GO:0008233), hydrolase activity (GO:0016787), metal ion binding (GO:0046872)

GO Cellular Component (4): basement membrane (GO:0005604), extracellular matrix (GO:0031012), cytoplasmic vesicle (GO:0031410), extracellular region (GO:0005576)

Reactome top-level categories

Rollup of top-8 pathways:

Category	Pathways
Extracellular matrix organization	1
Diseases associated with O-glycosylation of proteins	1
O-linked glycosylation	1
Diseases of metabolism	1
Diseases of glycosylation	1
Post-translational protein modification	1
Disease	1
Metabolism of proteins	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
female gonad development	1
ovulation cycle process	1
ovulation	1
animal organ development	1
renal system development	1
protein metabolic process	1
cell surface receptor signaling pathway	1
cell population proliferation	1
regulation of cell population proliferation	1
negative regulation of cellular process	1
angiogenesis	1
regulation of angiogenesis	1
negative regulation of blood vessel morphogenesis	1
extracellular structure organization	1
external encapsulating structure organization	1
cardiac chamber morphogenesis	1
trabecula formation	1
heart trabecula morphogenesis	1
G1/S transition of mitotic cell cycle	1
positive regulation of mitotic cell cycle phase transition	1
positive regulation of cell cycle G1/S phase transition	1
regulation of G1/S transition of mitotic cell cycle	1
positive regulation of smooth muscle cell proliferation	1
regulation of vascular associated smooth muscle cell proliferation	1
vascular associated smooth muscle cell proliferation	1
positive regulation of smooth muscle cell migration	1
vascular associated smooth muscle cell migration	1
regulation of vascular associated smooth muscle cell migration	1
endopeptidase activity	1
metallopeptidase activity	1
glycosaminoglycan binding	1
sulfur compound binding	1
peptidase activity	1
transition metal ion binding	1
binding	1
hydrolase activity	1
catalytic activity, acting on a protein	1
catalytic activity	1
cation binding	1
extracellular matrix	1

Protein interactions and networks

STRING

1664 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ADAMTS1	ACAN	P16112	778
ADAMTS1	FURIN	P09958	774
ADAMTS1	AREG	P15514	717
ADAMTS1	VCAN	P13611	667
ADAMTS1	COL18A1	P39060	660
ADAMTS1	FBLN1	P23142	652
ADAMTS1	THBS1	P07996	603
ADAMTS1	TIMP3	P35625	594
ADAMTS1	PTTG1IP	P53801	593
ADAMTS1	HBEGF	Q99075	558
ADAMTS1	TIMP1	P01033	540
ADAMTS1	LOX	P28300	516
ADAMTS1	MMP13	P45452	516
ADAMTS1	FBLN2	P98095	513
ADAMTS1	JAM2	P57087	511

IntAct

55 interactions, top by confidence:

A	B	Type	Score
ADAMTS1		psi-mi:“MI:0915”(physical association)	0.660
PRG2	YPEL5	psi-mi:“MI:0914”(association)	0.640
KRTAP10-8	ADAMTS1	psi-mi:“MI:0915”(physical association)	0.560
KRT40	ADAMTS1	psi-mi:“MI:0915”(physical association)	0.560
ADAMTS1	PSMD9	psi-mi:“MI:0915”(physical association)	0.560
DKK3	NME4	psi-mi:“MI:0914”(association)	0.530
PLA2G10	CHEK1	psi-mi:“MI:0914”(association)	0.530
IFNA21	IFIT3	psi-mi:“MI:0914”(association)	0.530
IGFBP1	SUSD5	psi-mi:“MI:0914”(association)	0.530
	PLOD2	psi-mi:“MI:0914”(association)	0.530
CFTR	ADAMTS1	psi-mi:“MI:0915”(physical association)	0.370
PRG2	ZSWIM8	psi-mi:“MI:0914”(association)	0.350
PRSS50		psi-mi:“MI:0914”(association)	0.350
ADAM32	GPR89A	psi-mi:“MI:0914”(association)	0.350
USP17L24	USP17L7	psi-mi:“MI:0914”(association)	0.350
	CCN1	psi-mi:“MI:0914”(association)	0.350
IGF1R	HAX1	psi-mi:“MI:0914”(association)	0.350
INSR	HAX1	psi-mi:“MI:0914”(association)	0.350
NTRK3	ILVBL	psi-mi:“MI:0914”(association)	0.350
ARRDC3	ESYT2	psi-mi:“MI:0914”(association)	0.350
PDGFRA	GXYLT2	psi-mi:“MI:0914”(association)	0.350
NOTCH2	ZNF320	psi-mi:“MI:0914”(association)	0.350
CCL3	KRBA1	psi-mi:“MI:0914”(association)	0.350
ST14	LIPT2	psi-mi:“MI:0914”(association)	0.350
DKK3	MYO9A	psi-mi:“MI:0914”(association)	0.350

BioGRID (116): ADAMTS1 (Affinity Capture-MS), ADAMTS1 (Affinity Capture-MS), ADAMTS1 (Affinity Capture-MS), ADAMTS1 (Affinity Capture-MS), ADAMTS1 (Affinity Capture-MS), ADAMTS1 (Affinity Capture-MS), ADAMTS1 (Affinity Capture-MS), ADAMTS1 (Affinity Capture-MS), ADAMTS1 (Affinity Capture-MS), ADAMTS1 (Affinity Capture-MS), ADAMTS1 (Affinity Capture-MS), ADAMTS1 (Affinity Capture-MS), ADAMTS1 (Affinity Capture-MS), ADAMTS1 (Affinity Capture-MS), ADAMTS1 (Affinity Capture-MS)

ESM2 similar proteins: A0A8M9PFP2, A2A863, A2VE29, A6X935, O02668, P01029, P01030, P08649, P0C0L4, P0C0L5, P16144, P19069, P19823, P19827, P56652, P58459, P59384, P79263, P97278, P97279, P97280, P97857, Q06033, Q06274, Q0VCM5, Q14624, Q1EHB3, Q29052, Q3T052, Q5RB37, Q5RER0, Q60750, Q61702, Q61703, Q61704, Q63416, Q64632, Q68SA9, Q86UX2, Q8BG22

Diamond homologs: A2VEC9, A6QNY1, B3EWZ3, B3EWZ8, C0HL12, C5IAW9, D3YXG0, D3ZTD8, F1LW30, O08721, O08722, O08747, O14514, O15072, O55225, O60241, O60242, O75173, O88783, O95185, O95450, P04275, P07358, P07996, P27918, P35441, P35442, P35448, P55314, P57110, P58397, P58459, P59384, P79331, P80012, P97857, P98088, P98092, P98160, P98164

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
ERG	“up-regulates quantity by expression”	ADAMTS1	“transcriptional regulation”

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 64 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
positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	6	8.7×	9e-03
positive regulation of cell migration	7	8.0×	9e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	13
Likely pathogenic	4
Uncertain significance	127
Likely benign	16
Benign	12

Top pathogenic / likely-pathogenic (17)

Variant ID	HGVS	Classification
1526703	GRCh37/hg19 21q11.2-21.3(chr21:15006457-28820583)	Pathogenic
154063	GRCh38/hg38 21q21.1-22.11(chr21:19423169-31841150)x1	Pathogenic
155682	GRCh38/hg38 21q11.2-21.3(chr21:13634137-27862841)x1	Pathogenic
1708465	GRCh37/hg19 21q11.2-21.3(chr21:15006457-29046428)x3	Pathogenic
2684913	GRCh37/hg19 21q21.1-21.3(chr21:21437700-30474088)x3	Pathogenic
442418	GRCh37/hg19 21q11.2-21.3(chr21:15006457-29225300)x1	Pathogenic
4682978	GRCh37/hg19 21q11.2-21.3(chr21:15520684-30322198)x3	Pathogenic
4682979	GRCh37/hg19 21q21.2-21.3(chr21:25394630-31276879)x3	Pathogenic
4682980	GRCh37/hg19 21q11.2-22.11(chr21:15023402-32738832)x3	Pathogenic
59004	GRCh38/hg38 21q11.2-21.3(chr21:13194345-29257208)x1	Pathogenic
59005	GRCh38/hg38 21q11.2-22.11(chr21:14000720-30903065)x1	Pathogenic
816143	GRCh37/hg19 21q11.2-21.3(chr21:15006457-29325923)x1	Pathogenic
816152	GRCh37/hg19 21q21.3-22.11(chr21:27826100-32468109)x1	Pathogenic
150018	GRCh38/hg38 21q21.1-21.3(chr21:22270514-27695129)x1	Likely pathogenic
4076086	GRCh37/hg19 21q11.2-21.3(chr21:15006458-29285838)x1	Likely pathogenic
635905	Single allele	Likely pathogenic
929783	NM_006988.5(ADAMTS1):c.1304C>A (p.Ser435Tyr)	Likely pathogenic

SpliceAI

724 predictions. Top by Δscore:

Variant	Effect	Δscore
21:26838274:CAGGT:C	acceptor_gain	1.0000
21:26838275:AGGT:A	acceptor_gain	1.0000
21:26838276:GGT:G	acceptor_gain	1.0000
21:26838277:GT:G	acceptor_gain	1.0000
21:26838278:TC:T	acceptor_loss	1.0000
21:26838279:C:CA	acceptor_loss	1.0000
21:26838279:C:CC	acceptor_gain	1.0000
21:26838280:T:C	acceptor_loss	1.0000
21:26838437:A:AC	donor_gain	1.0000
21:26838438:C:CC	donor_gain	1.0000
21:26838438:CTTTG:C	donor_gain	1.0000
21:26838515:T:TA	donor_gain	1.0000
21:26838615:CTGAA:C	acceptor_loss	1.0000
21:26838616:T:C	acceptor_loss	1.0000
21:26839586:C:A	donor_gain	1.0000
21:26839758:TTTTC:T	acceptor_gain	1.0000
21:26839759:TTTC:T	acceptor_gain	1.0000
21:26839760:TTC:T	acceptor_gain	1.0000
21:26839761:TC:T	acceptor_gain	1.0000
21:26839762:CC:C	acceptor_gain	1.0000
21:26839762:CCT:C	acceptor_loss	1.0000
21:26839763:C:CC	acceptor_gain	1.0000
21:26839763:CTGG:C	acceptor_loss	1.0000
21:26839764:T:A	acceptor_loss	1.0000
21:26839869:CCTCA:C	donor_loss	1.0000
21:26839870:CTCAC:C	donor_loss	1.0000
21:26839871:TCA:T	donor_loss	1.0000
21:26839872:CA:C	donor_loss	1.0000
21:26839873:A:AG	donor_loss	1.0000
21:26840059:CGT:C	acceptor_gain	1.0000

AlphaMissense

6356 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
21:26837894:C:A	W863C	1.000
21:26837894:C:G	W863C	1.000
21:26842411:C:A	W335C	1.000
21:26842411:C:G	W335C	1.000
21:26837747:C:A	W912C	0.999
21:26837747:C:G	W912C	0.999
21:26837909:C:A	W858C	0.999
21:26837909:C:G	W858C	0.999
21:26838556:C:G	C696S	0.999
21:26838557:A:T	C696S	0.999
21:26838570:A:C	C691W	0.999
21:26838571:C:G	C691S	0.999
21:26838572:A:G	C691R	0.999
21:26838572:A:T	C691S	0.999
21:26839629:G:C	C662W	0.999
21:26839630:C:G	C662S	0.999
21:26839630:C:T	C662Y	0.999
21:26839631:A:G	C662R	0.999
21:26839631:A:T	C662S	0.999
21:26839636:A:G	L660P	0.999
21:26839642:C:G	C658S	0.999
21:26839643:A:G	C658R	0.999
21:26839643:A:T	C658S	0.999
21:26839680:C:A	W645C	0.999
21:26839680:C:G	W645C	0.999
21:26839738:C:G	C626S	0.999
21:26839739:A:G	C626R	0.999
21:26839739:A:T	C626S	0.999
21:26839934:C:G	C598S	0.999
21:26839935:A:T	C598S	0.999

dbSNP variants (sampled 300 via entrez): RS1000124274 (21:26839478 T>A,C), RS1000237600 (21:26839733 C>T), RS1000248134 (21:26842818 T>C), RS1000328136 (21:26845506 G>A), RS1000846019 (21:26845705 C>T), RS1001456835 (21:26846801 T>A), RS1002133398 (21:26842630 G>A,C), RS1002239833 (21:26842986 C>T), RS1002294705 (21:26844713 A>C,G), RS1002422021 (21:26836170 G>A,C), RS1002427718 (21:26839303 C>A,T), RS1003017946 (21:26837493 G>A,C), RS1003302734 (21:26845883 G>C), RS1003585847 (21:26844007 T>A), RS1004702958 (21:26845405 A>G)

Disease associations

OMIM: gene MIM:605174 | disease phenotypes:

GenCC curated gene-disease

Disease	Classification	Inheritance
autosomal dominant prognathism	Limited	Autosomal dominant
nonsyndromic genetic hearing loss	Limited	Autosomal recessive

Mondo (4): neurodevelopmental disorder (MONDO:0700092), primary ovarian failure (MONDO:0005387), autosomal dominant prognathism (MONDO:0008312), nonsyndromic genetic hearing loss (MONDO:0019497)

Orphanet (1): NON RARE IN EUROPE: Primary ovarian failure (Orphanet:619)

HPO phenotypes

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

GWAS associations

6 associations (top):

Study	Trait	p-value
GCST007511_3	Alzheimer’s disease (late onset)	3.000000e-08
GCST008513_36	Health literacy	6.000000e-06
GCST009391_1179	Metabolite levels	6.000000e-06
GCST009517_2	Cerebrospinal fluid neurofilament light levels	2.000000e-08
GCST90012877_7	Alzheimer’s disease or family history of Alzheimer’s disease	1.000000e-07
GCST90012877_8	Alzheimer’s disease or family history of Alzheimer’s disease	3.000000e-08

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:1001870	late-onset Alzheimers disease
EFO:0010104	health literacy measurement
EFO:0010454	adenosine monophosphate measurement
EFO:0009268	family history of Alzheimer’s disease

MeSH disease descriptors (4)

Descriptor	Name	Tree numbers
D008313	Malocclusion, Angle Class III	C07.793.494.650
D065886	Neurodevelopmental Disorders	F03.625
D016649	Primary Ovarian Insufficiency	C12.050.351.500.056.630.750; C12.100.250.056.630.750; C19.391.630.750
C580334	Nonsyndromic Deafness (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL5133 (SINGLE PROTEIN)

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

PharmGKB clinical annotations

2 annotations.

Variant	Type	Level	Drugs	Phenotypes
rs402007	Efficacy	3	HMG-CoA reductase inhibitors
rs428785	Efficacy	3	pravastatin	Coronary Disease;Myocardial Infarction

PharmGKB variants

2 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs402007	ADAMTS1	3	2.50	1	HMG-CoA reductase inhibitors
rs428785	ADAMTS1	3	4.00	1	pravastatin

GtoPdb / IUPHAR curated pharmacology

(IUPHAR/BPS Guide to Pharmacology — expert-curated)

Target class: enzyme — M12: Astacin/Adamalysin

Most potent curated ligand interactions (1 total), top 1:

Ligand	Action	Affinity	Parameter
compound 12c [PMID: 16516466]	Inhibition	6.11	pKi

ChEMBL bioactivities

11 potent at pChembl≥5 of 11 total, top 10 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
7.52	Ki	30	nM	CHEMBL5592306
7.16	Ki	70	nM	CHEMBL5589804
7.10	IC50	79	nM	CHEMBL187092
6.48	IC50	328	nM	CHEMBL4877087
6.20	IC50	631	nM	CHEMBL4862188
6.11	Ki	776	nM	CHEMBL208009
5.55	Ki	2800	nM	CHEMBL5593176
5.49	IC50	3247	nM	CHEMBL4877662
5.11	Ki	7800	nM	CHEMBL207305
5.11	Ki	7800	nM	CHEMBL495502

PubChem BioAssay actives

11 with measured affinity, of 36 total; 10 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
(2R)-2-(1-benzoylpiperidin-4-yl)-2-[[4-(4-fluorophenyl)phenyl]sulfonylamino]-N-hydroxyacetamide	2114996: Inhibition of recombinant human full-length C-terminal FLAG tagged ADAMTS1 expressed in HEK293T cells using 5,6 fluorescein[FAM]-Ala-Glu-Leu-Gln-Gly-Arg-Pro-Ile-Ser-Ile-Ala-Lyscarboxytetramethylrhodamine as substrate preincubated for 1 hr followed by substrate addition and measured at 1 min interval for 2 hrs by FRET assay	ki	0.0300	uM
(2R)-2-(1-benzoylpiperidin-4-yl)-N-hydroxy-2-[[4-[4-(trifluoromethyl)phenyl]phenyl]sulfonylamino]acetamide	2114996: Inhibition of recombinant human full-length C-terminal FLAG tagged ADAMTS1 expressed in HEK293T cells using 5,6 fluorescein[FAM]-Ala-Glu-Leu-Gln-Gly-Arg-Pro-Ile-Ser-Ile-Ala-Lyscarboxytetramethylrhodamine as substrate preincubated for 1 hr followed by substrate addition and measured at 1 min interval for 2 hrs by FRET assay	ki	0.0700	uM
(2R,3R)-1-[4-[(2-chloro-4-fluorophenyl)methoxy]phenyl]sulfonyl-N,3-dihydroxy-3-methylpiperidine-2-carboxamide	699315: Inhibition of ADAMTS-1 using FAM (5-carbosyfluorescein)-AE*LQGRPISIAK substrate after 2 hrs	ic50	0.0790	uM
5-[3-[4-(3-chlorophenyl)piperazin-1-yl]-3-oxopropyl]-5-cyclopropylimidazolidine-2,4-dione	1775681: Inhibition of human recombinant ADAMTS-1 (AA253 to 734) assessed as cleavage of fluorescent substrate using 5(6)-fluorescein-NH-AELQGRPISIAK-5(6)-TAMRA as substrate incubated for 120 mins by biochemical assay	ic50	0.3280	uM
5-[3-[4-(3-chloro-4-fluorophenyl)piperazin-1-yl]-3-oxopropyl]-5-pyridin-2-ylimidazolidine-2,4-dione	1775681: Inhibition of human recombinant ADAMTS-1 (AA253 to 734) assessed as cleavage of fluorescent substrate using 5(6)-fluorescein-NH-AELQGRPISIAK-5(6)-TAMRA as substrate incubated for 120 mins by biochemical assay	ic50	0.6310	uM
N-[4-[2-(hydroxyamino)-2-oxoethyl]piperidin-4-yl]-4-[(2-methylquinolin-4-yl)methoxy]benzamide	264730: Binding affinity to ADAMTS1	ki	0.7760	uM
N-[(4R)-4-[[4-[(2-chloro-4-fluorophenyl)methoxy]phenyl]sulfonylamino]-5-(hydroxyamino)-5-oxopentyl]benzamide	2114996: Inhibition of recombinant human full-length C-terminal FLAG tagged ADAMTS1 expressed in HEK293T cells using 5,6 fluorescein[FAM]-Ala-Glu-Leu-Gln-Gly-Arg-Pro-Ile-Ser-Ile-Ala-Lyscarboxytetramethylrhodamine as substrate preincubated for 1 hr followed by substrate addition and measured at 1 min interval for 2 hrs by FRET assay	ki	2.8000	uM
5-[2-[4-(3,5-dichlorophenyl)piperazine-1-carbonyl]-3-methylbutyl]-5-methylimidazolidine-2,4-dione	1775681: Inhibition of human recombinant ADAMTS-1 (AA253 to 734) assessed as cleavage of fluorescent substrate using 5(6)-fluorescein-NH-AELQGRPISIAK-5(6)-TAMRA as substrate incubated for 120 mins by biochemical assay	ic50	3.2470	uM
N-[(2S,6R)-4-[2-(hydroxyamino)-2-oxoethyl]-2,6-dimethylpiperidin-4-yl]-4-[(2-methylquinolin-4-yl)methoxy]benzamide	344622: Inhibition of ADAMTS1	ki	7.8000	uM
N-[4-[2-(hydroxyamino)-2-oxoethyl]oxan-4-yl]-4-[(2-methylquinolin-4-yl)methoxy]benzamide	264730: Binding affinity to ADAMTS1	ki	7.8000	uM

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, affects expression, decreases expression	8
sodium arsenite	increases abundance, increases expression, decreases expression, affects cotreatment	4
Estradiol	affects cotreatment, decreases expression, increases expression, decreases reaction	4
Progesterone	decreases reaction, increases expression, affects cotreatment	4
trichostatin A	increases expression, affects cotreatment	3
Arsenic	affects methylation, increases abundance, increases expression, affects cotreatment	3
Benzo(a)pyrene	increases abundance, increases expression, increases methylation	3
methylmercuric chloride	decreases expression, increases expression	2
bisphenol A	increases expression	2
mercuric bromide	increases expression, affects cotreatment	2
Diethylhexyl Phthalate	increases expression, affects cotreatment, affects expression, affects reaction	2
Colforsin	decreases expression	2
Lipopolysaccharides	decreases expression, affects expression, affects reaction, affects response to substance, increases expression (+1 more)	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
Dihydrotestosterone	decreases reaction, affects cotreatment, increases expression	2
Cyclosporine	decreases expression	2
p-Chloromercuribenzoic Acid	affects cotreatment, increases expression	2
aristolochic acid I	decreases expression	1
3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide	decreases expression	1
GSK-J4	decreases expression	1
TAK-243	increases sumoylation	1
sotorasib	affects cotreatment, decreases expression	1
triphenyl phosphate	affects expression	1
diethyl phthalate	affects cotreatment, affects expression, affects reaction	1
sodium arsenate	increases abundance, increases expression	1
2-methyl-4-isothiazolin-3-one	increases expression	1
diisononyl phthalate	affects cotreatment, affects expression, affects reaction	1
terbufos	increases methylation	1
hydroxyflutamide	decreases reaction, increases expression	1
arsenite	decreases expression	1

ChEMBL screening assays

8 unique, capped per target: 7 binding, 1 toxicity

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL1942958	Binding	Inhibition of ADAM-TS1 dimethoxyfluorescein-Ser-Pro-Leu-Ala-Gln-Ala- Val-Arg-ser-Ser-Arg-Cys-fluorescein	Lead optimisation of selective non-zinc binding inhibitors of MMP13. Part 2. — Bioorg Med Chem Lett
CHEMBL5579512	Toxicity	Inhibition of recombinant human full-length C-terminal FLAG tagged ADAMTS1 expressed in HEK293T cells using 5,6 fluorescein[FAM]-Ala-Glu-Leu-Gln-Gly-Arg-Pro-Ile-Ser-Ile-Ala-Lyscarboxytetramethylrhodamine as substrate preincubated for 1 hr f	Design, synthesis and biological evaluation of arylsulfonamides as ADAMTS7 inhibitors. — RSC Med Chem

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT04586348	PHASE4	UNKNOWN	Prenatal Iodine Supplementation and Early Childhood Neurodevelopment
NCT04873115	PHASE4	UNKNOWN	Double-blind, Placebo-controlled, Randomized Clinical Trial Comparing the Efficacy and Safety of Sialanar Plus orAl rehabiLitation Against Placebo Plus Oral Rehabilitation for chIldren and Adolescents With seVere Sialorrhoea and Neurodisabilties,
NCT00417066	PHASE4	COMPLETED	Flexible GnRH Antagonist vs Flare up GnRH Agonist Protocol in Poor Responders
NCT00732693	PHASE4	COMPLETED	Evaluation of Physiologic and Standard Sex Steroid Replacement Regimens in Women With Premature Ovarian Failure
NCT00837616	PHASE4	COMPLETED	Estrogen Dosing in Turner Syndrome: Pharmacology and Metabolism
NCT01853501	PHASE4	UNKNOWN	Effects of ADSC Therapy in Women With POF
NCT02783937	PHASE4	COMPLETED	Filgrastim for Premature Ovarian Insufficiency
NCT03535480	PHASE4	UNKNOWN	Autologous Bone Marrow Stem Cell Ovarian Transplantation to Restore Ovarian Function in Premature Ovarian Failure
NCT02559102	PHASE3	COMPLETED	Dexmedetomidine Sedation Versus General Anaesthesia for Inguinal Hernia Surgery in Infants
NCT02757079	PHASE3	COMPLETED	Study of the Efficacy and Safety of NPC-15 for Sleep Disorders of Children With Neurodevelopmental Disorders
NCT06915480	PHASE3	RECRUITING	Reducing Missed Appointments
NCT07377032	PHASE3	RECRUITING	TAP-GRIN: Interventional Study on Patients With GRIN-related Neurodevelopmental Disorders
NCT00140998	PHASE3	COMPLETED	Estrogen Treatment (Oral vs. Patches) in Turner Syndrome
NCT02909959	PHASE2	COMPLETED	Sulforaphane for the Treatment of Young Men With Autism Spectrum Disorder
NCT06081348	PHASE2	RECRUITING	Sertraline vs. Placebo in the Treatment of Anxiety in Children and AdoLescents With NeurodevelopMental Disorders
NCT06352372	PHASE2	COMPLETED	Safety and Efficacy of tPBM for Epileptiform Activity in Autism
NCT00001951	PHASE2	COMPLETED	Hormone Replacement in Young Women With Premature Ovarian Failure
NCT00370019	PHASE2	WITHDRAWN	Effects of an Estrogen Replacement Therapy Skin Patch on Ovulation in Women With Premature Ovarian Failure
NCT00429494	PHASE2	COMPLETED	GnRH Analogue for Ovarian Function Preservation in Hematopoietic Stem Cell Transplantation Patients
NCT03816852	PHASE2	SUSPENDED	The Safety and Efficiency Study of Mesenchymal Stem Cell (19#iSCLife®-POI) in Premature Ovarian Insufficiency
NCT04536467	PHASE2	UNKNOWN	Prevention of Chemotherapy-Induced Ovarian Failure With Goserelin in Premenopausal Lymphoma Patients
NCT06117982	PHASE2	COMPLETED	The Impact of Granulocyte Colony Stimulating Factor on Premature Ovarian Insufficiency
NCT00503191	PHASE1	COMPLETED	NeuroModulation Technique Treatment of Autism
NCT04475848	PHASE1	COMPLETED	A Study to Investigate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Food Effect of RO6953958 in Healthy Participants
NCT06300398	PHASE1	COMPLETED	IAMA-6 Oral Dose Study in Healthy Adults
NCT02912104	PHASE1	COMPLETED	A Therapeutic Trial of Human Amniotic Epithelial Cells Transplantation for Primary Ovarian Failure
NCT03178695	PHASE1	COMPLETED	Inovium Ovarian Rejuvenation Trials
NCT04815213	PHASE1	ACTIVE_NOT_RECRUITING	The Use of Expandeded Mesenchymal Stromal Cells (MSC) in Premature Ovarian Failure (POF) in Adult Humans
NCT05138367	PHASE1	COMPLETED	Effects of UCA-PSCs in Women With POF
NCT06132542	PHASE1	UNKNOWN	Autologous ADMSC Transplantation in Patients With POI
NCT01802190	Not specified	TERMINATED	Prevalence of POU4F3 and SLC17A8 Mutations
NCT01783041	PHASE2/PHASE3	COMPLETED	Effect of Early L-Carnitine Supplementation on Neurodevelopmental Outcomes in Very Preterm Infants
NCT05767385	PHASE2/PHASE3	RECRUITING	Fetal Cerebrovascular Autoregulation in Congenital Heart Disease and Association With Neonatal Neurobehavior
NCT05675098	EARLY_PHASE1	NOT_YET_RECRUITING	Central Nervous System Stimulants and Physical Function in Children With Cerebral Palsy
NCT00783783	Not specified	COMPLETED	CYP2D6 Pharmacogenetics in Risperidone-Treated Children
NCT01778504	Not specified	RECRUITING	Studying Childhood-onset Behavioral, Psychiatric, and Developmental Disorders
NCT01850784	Not specified	UNKNOWN	High Energy Formula Feeding in Infants With Congenital Heart Disease
NCT01922791	Not specified	COMPLETED	Nutrition and Pregnancy Intervention Study
NCT01942525	Not specified	UNKNOWN	Influence of Intrauterine Growth Restriction on Amplitude-integrated EEG in Preterm Infants
NCT02003170	Not specified	COMPLETED	Etiology and Early Diagnosis of Neurodevelopmental Disorders