Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
9510
Gene name Gene Name - the full gene name approved by the HGNC.
ADAM metallopeptidase with thrombospondin type 1 motif 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ADAMTS1
Synonyms (NCBI Gene) Gene synonyms aliases
C3-C5, METH1
Chromosome Chromosome number
21
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
21q21.3
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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 factor Regulation Reference
ERG Activation 19396168
EZH2 Repression 22514714
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
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 21873635
GO:0004222 Function Metalloendopeptidase activity IDA 11278559
GO:0005515 Function Protein binding IPI 32296183, 32814053
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
605174 217 ENSG00000154734
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Alzheimer disease Familial Alzheimer Disease (FAD), Alzheimer Disease, Late Onset, Alzheimer Disease, Early Onset, Alzheimer`s Disease, Alzheimer`s Disease, Focal Onset rs63750215, rs28936379, rs63749851, rs63749884, rs28936380, rs63750048, rs63750579, rs63750264, rs63749964, rs63750671, rs281865161, rs63750066, rs63750399, rs63750734, rs63751039
View all (65 more)
30820047
Breast cancer Malignant neoplasm of breast rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158
View all (309 more)
23289900
Breast carcinoma Breast Carcinoma rs80359671, rs11540652, rs28934575, rs28897672, rs137886232, rs193922376, rs80357783, rs80359306, rs80359405, rs80359507, rs80359598, rs80358429, rs397507683, rs397515636, rs80359451
View all (71 more)
23289900
Lung carcinoma Non-Small Cell Lung Carcinoma rs1805076, rs121909071, rs121913530, rs112445441, rs121913529, rs121913535, rs121913297, rs121913279, rs104886003, rs397516975, rs11554290, rs121913364, rs121913351, rs121913369, rs121913355
View all (44 more)
19027488
Unknown
Disease term Disease name Evidence References Source
Dementia Dementia GWAS
Associations from Text Mining
Disease Name Relationship Type References
Acute Aortic Syndrome Associate 28803253
Adenocarcinoma of Lung Stimulate 27227769
Adenoma Associate 17167179
Alzheimer Disease Associate 32740652
Aneurysm Inhibit 30979845
Aortic Aneurysm Thoracic Associate 15876810
Aortic Aneurysm Thoracic Stimulate 23245439
Aortic Dissection Stimulate 23245439
Asthma Inhibit 17088949
Astrocytoma Associate 34169995