Version 5.4
| Homo sapiens Protein: ADAMTS18 | |||||||||
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| Summary | |||||||||
| InnateDB Protein | IDBP-42968.6 | ||||||||
| Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||
| Gene Symbol | ADAMTS18 | ||||||||
| Protein Name | ADAM metallopeptidase with thrombospondin type 1 motif, 18 | ||||||||
| Synonyms | |||||||||
| Species | Homo sapiens | ||||||||
| Ensembl Protein | ENSP00000282849 | ||||||||
| InnateDB Gene | IDBG-42966 (ADAMTS18) | ||||||||
| Protein Structure |
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| UniProt Annotation | |||||||||
| Function | |||||||||
| Subcellular Localization | Secreted, extracellular space, extracellular matrix {ECO:0000250}. | ||||||||
| Disease Associations | Microcornea, myopic chorioretinal atrophy, and telecanthus (MMCAT) [MIM:615458]: A ocular syndrome characterized by microcornea and myopic chorioretinal atrophy. Microcornea is defined by a corneal diameter inferior to 10 mm in both meridians in an otherwise normal eye. In addition to ocular findings, some patients have telecanthus and posteriorly rotated ears. {ECO:0000269PubMed:23818446}. Note=The disease is caused by mutations affecting the gene represented in this entry. | ||||||||
| Tissue Specificity | Expressed in fetal lung, liver, and kidney and in adult brain, prostate, submaxillary gland, and endothelium. | ||||||||
| Comments | |||||||||
| Interactions | |||||||||
| Number of Interactions |
This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
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| Gene Ontology | |||||||||
Molecular Function |
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| Biological Process |
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| Cellular Component |
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| Protein Structure and Domains | |||||||||
| PDB ID | |||||||||
| InterPro |
IPR000884
Thrombospondin, type 1 repeat IPR001590 Peptidase M12B, ADAM/reprolysin IPR002870 Peptidase M12B, propeptide IPR010294 ADAM-TS Spacer 1 IPR010909 PLAC IPR013273 Peptidase M12B, ADAM-TS |
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| PFAM |
PF00090
PF01421 PF01562 PF05986 PF08686 |
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| PRINTS |
PR01857
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| PIRSF | |||||||||
| SMART |
SM00209
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| TIGRFAMs | |||||||||
| Post-translational Modifications | |||||||||
| Modification | |||||||||
| Cross-References | |||||||||
| SwissProt | Q8TE60 | ||||||||
| PhosphoSite | PhosphoSite-Q8TE60 | ||||||||
| TrEMBL | |||||||||
| UniProt Splice Variant | |||||||||
| Entrez Gene | 170692 | ||||||||
| UniGene | Hs.607303 | ||||||||
| RefSeq | NP_955387 | ||||||||
| HUGO | HGNC:17110 | ||||||||
| OMIM | 607512 | ||||||||
| CCDS | CCDS10926 | ||||||||
| HPRD | 06333 | ||||||||
| IMGT | |||||||||
| EMBL | AC009139 AC010548 AC025284 AJ311903 AK122677 BC063283 | ||||||||
| GenPept | AAH63283 BAC85503 CAC83612 | ||||||||