THSD1 - thrombospondin type 1 domain containing 1 Gene
Also Known as TMTSP; ANIB12; UNQ3010
Species: Homo sapiens
About THSD1
This gene has 3 transcripts (splice variants), 199 orthologues and is associated with 3 phenotypes. Broad expression in lung (RPKM 7.5), placenta (RPKM 5.7) and 21 other tissues.
Summary
The protein encoded by this gene contains a type 1 thrombospondin domain, which is found in a number of proteins involved in the complement pathway, as well as in extracellular matrix proteins. Alternatively spliced transcript variants encoding different isoforms have been observed for this gene. [provided by RefSeq, Jan 2009]
THSD1 Products (2)
| mRNA | Protein | Name |
|---|---|---|
| NM_018676.4 | NP_061146.1 | thrombospondin type-1 domain-containing protein 1 isoform 1 precursor |
| NM_199263.3 | NP_954872.1 | thrombospondin type-1 domain-containing protein 1 isoform 2 precursor |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables extracellular matrix binding |
IMP
IMP: Inferred from mutant phenotype
|
27895300 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
27895300 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in focal adhesion assembly |
IDA
IDA: Inferred from direct assay
|
29069646 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in endosome |
IDA
IDA: Inferred from direct assay
|
29069646 | GOA |
| located in focal adhesion |
IMP
IMP: Inferred from mutant phenotype
|
27895300 | GOA |
THSD1 Protein Structure
TSP_1: Thrombospondin type 1 domain (345 - 392)
- 0
- 200
- 400
- 600
- 800
- 852 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
thrombospondin type-1 domain-containing protein 1 |
|
Recombinant THSD1 Proteins
| Cat. No. | Product Name | Accession | Purity |
|---|---|---|---|
| HY-P71360 | THSD1 Protein, Human (HEK293, His) | Q9NS62-2 (E25-I361) | ≥ 95%, as determined by reducing SDS-PAGE. |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Aneurysm, Intracranial Berry, 12 |
|
|
| Familial Cerebral Saccular Aneurysm |
|
|
| Hydrops Fetalis, Nonimmune |
|
|
| Enterokinase Deficiency |
|
|
| Cerebral Arterial Disease |
|
|
| Unilateral Retinoblastoma |
|
|
| Intracranial Berry Aneurysm |
|
|
| Moyamoya Disease 1 |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Mus musculus | THSD1 | MGD | MGI:1929096 |
| Rattus norvegicus | THSD1 | RGD | RGD:1306998 |
| Canis familiaris | THSD1 | VGNC | VGNC:47357 |
| Bos taurus | THSD1 | VGNC | VGNC:35849 |
| Felis catus | THSD1 | VGNC | VGNC:66175 |
| Macaca mulatta | THSD1 | VGNC | VGNC:78402 |
| Others | THSD1 | NCBI |