Gene Gene information from NCBI Gene database.
Entrez ID 9510
Gene name ADAM metallopeptidase with thrombospondin type 1 motif 1
Gene symbol ADAMTS1
Synonyms (NCBI Gene)
C3-C5METH1
Chromosome 21
Chromosome location 21q21.3
Summary 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
miRNA miRNA information provided by mirtarbase database.
349
miRTarBase ID miRNA Experiments Reference
MIRT022469 hsa-miR-124-3p Microarray 18668037
MIRT029236 hsa-miR-26b-5p Microarray 19088304
MIRT049047 hsa-miR-92a-3p CLASH 23622248
MIRT040291 hsa-miR-615-3p CLASH 23622248
MIRT036972 hsa-miR-877-3p CLASH 23622248
Transcription factors Transcription factors information provided by TRRUST V2 database.
2
Transcription factor Regulation Reference
ERG Activation 19396168
EZH2 Repression 22514714
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
31
GO ID Ontology Definition Evidence Reference
GO:0001542 Process Ovulation from ovarian follicle IEA
GO:0001822 Process Kidney development IEA
GO:0004222 Function Metalloendopeptidase activity IBA
GO:0004222 Function Metalloendopeptidase activity IDA 11278559, 25122765
GO:0004222 Function Metalloendopeptidase activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
605174 217 ENSG00000154734
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9UHI8
Protein name A disintegrin and metalloproteinase with thrombospondin motifs 1 (ADAM-TS 1) (ADAM-TS1) (ADAMTS-1) (EC 3.4.24.-) (METH-1)
Protein 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 (By similarity). Also cleaves COMP (PubMed:39672391). Has
PDB 2JIH , 2V4B , 3Q2G , 3Q2H
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01562 Pep_M12B_propep 48 174 Reprolysin family propeptide Family
PF01421 Reprolysin 258 467 Reprolysin (M12B) family zinc metalloprotease Domain
PF17771 ADAM_CR_2 478 546 ADAM cysteine-rich domain Domain
PF00090 TSP_1 563 613 Thrombospondin type 1 domain Domain
PF05986 ADAM_spacer1 725 843 ADAM-TS Spacer 1 Family
PF19030 TSP1_ADAMTS 858 909 Domain
PF19030 TSP1_ADAMTS 912 966 Domain
Sequence
MQRAVPEGFGRRKLGSDMGNAERAPGSRSFGPVPTLLLLAAALLAVSDALGRPSEEDEEL
VVPELERAPGHGTTRLRLHAFDQQLDLELRPDSSFLAPGFTLQNVGRKSGSETPLPETDL
AHCFYSGTVNGDPSSAAALSLCEGVRGAFYLLGEAYFIQPLPAASERLATAAPG
EKPPAP
LQFHLLRRNRQGDVGGTCGVVDDEPRPTGKAETEDEDEGTEGEDEGAQWSPQDPALQGVG
QPTGTGSIRKKRFVSSHRYVETMLVADQSMAEFHGSGLKHYLLTLFSVAARLYKHPSIRN
SVSLVVVKILVIHDEQKGPEVTSNAALTLRNFCNWQKQHNPPSDRDAEHYDTAILFTRQD
LCGSQTCDTLGMADVGTVCDPSRSCSVIEDDGLQAAFTTAHELGHVFNMPHDDAKQCASL
NGVNQDSHMMASMLSNLDHSQPWSPCSAYMITSFLDNGHGECLMDKP
QNPIQLPGDLPGT
SYDANRQCQFTFGEDSKHCPDAASTCSTLWCTGTSGGVLVCQTKHFPWADGTSCGEGKWC
INGKCV
NKTDRKHFDTPFHGSWGMWGPWGDCSRTCGGGVQYTMRECDNPVPKNGGKYCEG
KRVRYRSCNLEDC
PDNNGKTFREEQCEAHNEFSKASFGSGPAVEWIPKYAGVSPKDRCKL
ICQAKGIGYFFVLQPKVVDGTPCSPDSTSVCVQGQCVKAGCDRIIDSKKKFDKCGVCGGN
GSTCKKISGSVTSAKPGYHDIITIPTGATNIEVKQRNQRGSRNNGSFLAIKAADGTYILN
GDYTLSTLEQDIMYKGVVLRYSGSSAALERIRSFSPLKEPLTIQVLTVGNALRPKIKYTY
FVK
KKKESFNAIPTFSAWVIEEWGECSKSCELGWQRRLVECRDINGQPASECAKEVKPAS
TRPCADHPC
PQWQLGEWSSCSKTCGKGYKKRSLKCLSHDGGVLSHESCDPLKKPKHFIDF
CTMAEC
S
Sequence length 967
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Defective B3GALTL causes Peters-plus syndrome (PpS)
O-glycosylation of TSR domain-containing proteins
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
14
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Premature ovarian failure Likely pathogenic rs375553171 RCV001270239
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ALZHEIMERS DISEASE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT PROGNATHISM GenCC
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acromicric Dysplasia Acromicric Dysplasia BEFREE 19396027
★☆☆☆☆
Found in Text Mining only
Acute Confusional Senile Dementia Senile Dementia CTD_human_DG 30820047
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 32740652 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Alzheimer Disease, Early Onset Alzheimer disease CTD_human_DG 30820047
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease, Late Onset Alzheimer disease CTD_human_DG 30820047
★☆☆☆☆
Found in Text Mining only
Alzheimer`s Disease Alzheimer disease CTD_human_DG 30820047
★☆☆☆☆
Found in Text Mining only
Alzheimer`s Disease, Focal Onset Alzheimer disease CTD_human_DG 30820047
★☆☆☆☆
Found in Text Mining only
Aneurysm Aneurysm Pubtator 30979845 Inhibit
★☆☆☆☆
Found in Text Mining only
Aortic Aneurysm Thoracic Thoracic aortic aneurysm Pubtator 15876810 Associate
★☆☆☆☆
Found in Text Mining only
Aortic Aneurysm Thoracic Thoracic aortic aneurysm Pubtator 23245439 Stimulate
★☆☆☆☆
Found in Text Mining only