Sequence in raw or FASTA format:
ADAMTSL2 ADAMTS-like 2 [Homo sapiens (human)]
|Entrez Gene ID||9719|
|Full Name||ADAMTS-like 2|
|General protein information||
|Organism||Homo sapiens (human)|
|Summary||This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) and ADAMTS-like 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 lacks the protease domain, and is therefore of a member of the the ADAMTS-like protein subfamily. It is a secreted glycoprotein that binds the cell surface and extracellular matrix; it also interacts with latent transforming growth factor beta binding protein 1. Mutations in this gene have been associated with geleophysic dysplasia. [provided by RefSeq, Feb 2009].|
Geleophysic dysplasia, 231050 (3)
|REACT_17015||Metabolism of proteins|
|REACT_22161||Post-translational protein modification|
|REACT_200626||O-glycosylation of TSR domain-containing proteins|
|Homo sapiens (human)||ADAMTSL2||NP_001138792.1|
|Pan troglodytes (chimpanzee)||ADAMTSL2||XP_001169765.2|
|Macaca mulatta (Rhesus monkey)||LOC713492||XP_002808139.1|
|Canis lupus familiaris (dog)||ADAMTSL2||XP_003639356.1|
|Bos taurus (cattle)||ADAMTSL2||NP_001192863.1|
|Mus musculus (house mouse)||Adamtsl2||NP_084257.1|
|Rattus norvegicus (Norway rat)||Adamtsl2||XP_231125.3|
|Gallus gallus (chicken)||ADAMTSL2||XP_004946003.1|
|Danio rerio (zebrafish)||adamtsl2||XP_003198768.2|
|Xenopus (Silurana) tropicalis (western clawed frog)||adamtsl2||XP_004919863.1|
|GO:0030512||negative regulation of transforming growth factor beta receptor signaling pathway||IMP|
|GO:0005578||proteinaceous extracellular matrix||IEA|
|GO:0008270||zinc ion binding||IEA|
What is the normal function of the ADAMTSL2 gene?
The ADAMTSL2 gene provides instructions for making a protein whose function is unknown. The ADAMTSL2 protein is active in many different tissues. It is found in the extracellular matrix, which is the intricate lattice of proteins and other molecules that forms in the spaces between cells.
Studies suggest that the ADAMTSL2 protein interacts with a protein called latent transforming growth factor beta binding protein 1 (LTBP1). The LTBP1 protein is involved in the storage of transforming growth factor beta (TGF-β), a critical growth factor that helps control the growth and division (proliferation) of cells, the process by which cells mature to carry out specific functions (differentiation), cell movement (motility), and the self-destruction of cells (apoptosis). Through its interaction with the LTBP1 protein, researchers suspect that the ADAMTSL2 protein may help regulate the availability of TGF-β.
The interaction between the ADAMTSL2 protein and the LTBP1 protein suggests that ADAMTSL2 may also play a role in the microfibrillar network. This organized clustering of thread-like filaments (called microfibrils) in the extracellular matrix provides strength and flexibility to tissues throughout the body.
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