ADAMTSL1
Summary: This gene encodes a secreted protein and member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motif) family. This protein lacks the metalloproteinase and disintegrin-like domains, which are typical of the ADAMTS family, but contains other ADAMTS domains, including the thrombospondin type 1 motif. This protein may have important functions in the extracellular matrix. Alternative splicing results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, Jul 2008].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| ADAMTS like 1 | MIM:609198 | Ensembl:ENSG00000178031 | HGNC:HGNC:14632 | PA24554 | 9p22.2-p22.1 |
GO terms in ADAMTSL1
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IEA | GO:0008233 | peptidase activity |
| BP | IEA | GO:0006508 | proteolysis |
| CC | IEA | GO:0005576 | extracellular region |
| CC | TAS | GO:0005788 | endoplasmic reticulum lumen |
Gene expression in normal tissue: ADAMTSL1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in ADAMTSL1
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-1643685 | Disease |
| reactome | R-HSA-3781865 | Diseases of glycosylation |
| reactome | R-HSA-3906995 | Diseases associated with O-glycosylation of proteins |
| reactome | R-HSA-392499 | Metabolism of proteins |
| reactome | R-HSA-5083635 | Defective B3GALTL causes Peters-plus syndrome (PpS) |
| reactome | R-HSA-5173105 | O-linked glycosylation |
| reactome | R-HSA-5173214 | O-glycosylation of TSR domain-containing proteins |
| reactome | R-HSA-597592 | Post-translational protein modification |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in ADAMTSL1
CLASSFICATION
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