THSD4 - thrombospondin type 1 domain containing 4 Gene
Also Known as AAT12; ADAMTSL6; FVSY9334; PRO34005; ADAMTSL-6
Species: Homo sapiens
About THSD4
This gene has 7 transcripts (splice variants), 205 orthologues, 25 paralogues and is associated with 1 phenotype. Broad expression in esophagus (RPKM 9.7), prostate (RPKM 9.0) and 20 other tissues.
Summary
Predicted to enable hydrolase activity. Predicted to be an extracellular matrix structural constituent. Predicted to act upstream of or within elastic fiber assembly. Located in collagen-containing extracellular matrix and extracellular exosome. [provided by Alliance of Genome Resources, Apr 2022]
THSD4 Products (3)
| mRNA | Protein | Name |
|---|---|---|
| NM_001286429.2 | NP_001273358.1 | thrombospondin type-1 domain-containing protein 4 isoform 2 precursor |
| NM_001394532.1 | NP_001381461.1 | thrombospondin type-1 domain-containing protein 4 isoform 1 precursor |
| NM_024817.3 | NP_079093.2 | thrombospondin type-1 domain-containing protein 4 isoform 1 precursor |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in microfibril assembly |
IMP
IMP: Inferred from mutant phenotype
|
32855533 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in microfibril |
IMP
IMP: Inferred from mutant phenotype
|
32855533 | GOA |
THSD4 Protein Structure
TSP_1: Thrombospondin type 1 domain (58 - 81)
ADAM_spacer1: ADAM-TS Spacer 1 (413 - 527)
TSP_1: Thrombospondin type 1 domain (627 - 653)
TSP_1: Thrombospondin type 1 domain (683 - 706)
TSP_1: Thrombospondin type 1 domain (743 - 793)
TSP_1: Thrombospondin type 1 domain (859 - 912)
TSP_1: Thrombospondin type 1 domain (919 - 967)
PLAC: PLAC (protease and lacunin) domain (974 - 1006)
- 0
- 200
- 400
- 600
- 800
- 1018 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
thrombospondin type-1 domain-containing protein 4 |
|
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Aortic Aneurysm, Familial Thoracic 12 |
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| Ectopia Lentis 1, Isolated, Autosomal Dominant |
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| Ectopia Lentis 2, Isolated, Autosomal Recessive |
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| Isolated Ectopia Lentis |
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| Marfan Syndrome |
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| Phacolytic Glaucoma |
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| Peters-Plus Syndrome |
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| Weill-Marchesani Syndrome |
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| Geleophysic Dysplasia |
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| Acromicric Dysplasia |
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| Winchester Syndrome |
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| Aortic Aneurysm, Familial Thoracic 1 |
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Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Felis catus | THSD4 | VGNC | VGNC:80822 |
| Mus musculus | THSD4 | MGD | MGI:2672033 |
| Canis familiaris | THSD4 | VGNC | VGNC:103650 |
| Macaca mulatta | THSD4 | VGNC | VGNC:99269 |
| Rattus norvegicus | THSD4 | RGD | RGD:1566296 |
| Others | THSD4 | NCBI |