| Type | Description |
|---|---|
| Definition | thrombospondin type 1 domain containing 1 |
| Date | Results | Publications |
|---|---|---|
| 2019-09-14 10:43:00 | we report the novel truncating THSD1 variant, and describe new clinical features that have not been reported previously thus expanding the phenotype associate with loss-of-function mutations in THSD1 causing NIHF. | 30055085 |
| 2018-01-20 11:27:00 | THSD1 forms a multimeric protein complex with FAK/talin/vinculin, wherein THSD1 promotes talin binding to FAK but not to vinculin, a key step in nascent adhesion assembly. | 29069646 |
| 2017-06-10 10:58:00 | THSD1 mutation associated with Intracranial Aneurysm and Subarachnoid Hemorrhage. | 27895300 |
| 2016-12-31 11:04:00 | thrombospondin type I domain 1 is a new regulator of endothelial barrier function during vascular development and protects intraplaque microvessels against haemorrhaging in advanced atherosclerotic lesions | 26822228 |
| 2012-10-20 10:51:00 | The THSD1 gene may play a role in the tumorigenesis of colorectal cancer | 22664866 |
| Type | IDs |
|---|---|
| Synonymous | TMTSP, UNQ3010 |
| Gene |
UniProtKB-ID:
THSD1_HUMAN,
B3KTY7_HUMAN,
A0A024R064_HUMAN
UniprotKB:
Q9NS62,
B3KTY7,
A0A024R064
UniParc:
UPI000007376D,
UPI0000372F80,
UPI000013CFE9,
UPI00001D6917
EMBL:
AL359513,
CH471274,
AK315087,
AK096289,
AY358149,
BC063842,
AB044385
Ensembl:
ENSG00000136114
KO:
hsa:55901
|
| Nucleutide sequences |
EMBL-CDS:
EAW55891.1,
AAH63842.1,
BAG37552.1,
AAQ88516.1,
BAA96553.1,
EAW55894.1,
BAG53249.1,
EAW55892.1,
EAW55893.1,
EAW55896.1
Gene_ORFName:
UNQ3010/PRO9769,
hCG_29569
Ensembl_TRS:
ENST00000349258,
ENST00000648254,
ENST00000258613
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000497520,
ENSP00000340650,
ENSP00000258613
RefSeq:
NP_954872.1,
NP_061146.1
|
| Others |
UniRef100:
UniRef100_B3KTY7,
UniRef100_Q9NS62
UniRef90:
UniRef90_Q9NS62
UniRef50:
UniRef50_Q9NS62
UniGene:
Hs.325667
CCDS:
CCDS9433.1,
CCDS9432.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Location | {{protein.contigId}} ( {{protein.positionStart}}..{{protein.positionEnd}} , {{protein.orientation}} ) | |||||||
| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
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