ADAMTS9 - ADAM metallopeptidase with thrombospondin type 1 motif 9 Gene
Species: Homo sapiens
About ADAMTS9
This gene has 10 transcripts (splice variants), 206 orthologues, 25 paralogues and is associated with 2 phenotypes. Broad expression in placenta (RPKM 16.1), endometrium (RPKM 10.3) and 18 other tissues.
Summary
This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) 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. Members of the ADAMTS family have been implicated in the cleavage of proteoglycans, the control of organ shape during development, and the inhibition of angiogenesis. This gene is localized to chromosome 3p14.3-p14.2, an area known to be lost in hereditary renal tumors. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar proteolytic processing. [provided by RefSeq, Jan 2016]
ADAMTS9 Products (2)
| mRNA | Protein | Name |
|---|---|---|
| NM_001318781.2 | NP_001305710.1 | A disintegrin and metalloproteinase with thrombospondin motifs 9 isoform 4 precursor |
| NM_182920.2 | NP_891550.1 | A disintegrin and metalloproteinase with thrombospondin motifs 9 isoform 1 preproprotein |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables metallopeptidase activity |
IDA
IDA: Inferred from direct assay
|
12514189 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| acts upstream of or within proteolysis |
IDA
IDA: Inferred from direct assay
|
12514189 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in extracellular matrix |
IDA
IDA: Inferred from direct assay
|
12514189 | GOA |
ADAMTS9 Protein Structure
Pep_M12B_propep: Reprolysin family propeptide (48 - 207)
Reprolysin: Reprolysin (M12B) family zinc metalloprotease (293 - 499)
TSP_1: Thrombospondin type 1 domain (593 - 642)
ADAM_spacer1: ADAM-TS Spacer 1 (753 - 871)
TSP_1: Thrombospondin type 1 domain (1004 - 1053)
TSP_1: Thrombospondin type 1 domain (1059 - 1108)
TSP_1: Thrombospondin type 1 domain (1114 - 1165)
TSP_1: Thrombospondin type 1 domain (1188 - 1239)
TSP_1: Thrombospondin type 1 domain (1246 - 1295)
TSP_1: Thrombospondin type 1 domain (1334 - 1383)
TSP_1: Thrombospondin type 1 domain (1389 - 1439)
TSP_1: Thrombospondin type 1 domain (1447 - 1481)
TSP_1: Thrombospondin type 1 domain (1504 - 1525)
TSP_1: Thrombospondin type 1 domain (1562 - 1612)
TSP_1: Thrombospondin type 1 domain (1618 - 1659)
TSP_1: Thrombospondin type 1 domain (1684 - 1729)
GON: GON domain (1736 - 1934)
- 0
- 300
- 600
- 900
- 1200
- 1500
- 1800
- 1935 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
A disintegrin and metalloproteinase with thrombospondin motifs 9 |
|
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Juvenile Nephronophthisis |
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| Nephronophthisis |
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| Peters-Plus Syndrome |
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| Macular Degeneration, Age-Related, 1 |
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| Spondyloepimetaphyseal Dysplasia, Missouri Type |
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| Wolfram Syndrome 1 |
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| Weill-Marchesani Syndrome |
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| Geleophysic Dysplasia |
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| Diabetes Mellitus |
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| Chromosome 2q35 Duplication Syndrome |
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| Maturity-Onset Diabetes Of The Young |
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| Orofacial Cleft |
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Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Macaca mulatta | ADAMTS9 | VGNC | VGNC:69388 |
| Rattus norvegicus | ADAMTS9 | RGD | RGD:1306889 |
| Felis catus | ADAMTS9 | VGNC | VGNC:59598 |
| Canis familiaris | ADAMTS9 | VGNC | VGNC:37605 |
| Bos taurus | ADAMTS9 | VGNC | VGNC:25630 |
| Mus musculus | ADAMTS9 | MGD | MGI:1916320 |
| Others | ADAMTS9 | NCBI |