| Type | Description |
|---|---|
| Definition | signal transducing adaptor family member 1 |
| Date | Results | Publications |
|---|---|---|
| 2021-01-02 12:51:00 | Predicted pathogenic mutations in STAP1 are not associated with clinically defined familial hypercholesterolemia. | 31809983 |
| 2020-07-18 12:15:00 | Our combined studies in mouse models and carriers of STAP1 variants indicate that STAP1 is not a familial hypercholesterolemia gene. | 31996024 |
| 2019-03-02 12:14:00 | The findings confirm and extend the linkage between STAP1 variants and FH, and point to an important role of this adaptor protein within a signaling pathway that affects cholesterol homeostasis. | 30308187 |
| 2017-10-07 11:00:00 | STAP1 associated with Familial Hypercholesterolemia and Polygenic Hypercholesterolemia in patients with Acute Coronary Syndrome , age /=160 mg/dl. | 28958330 |
| 2014-11-08 13:04:00 | Mutations in STAP1 are associated with autosomal dominant hypercholesterolemia. | 25035151 |
| Type | IDs |
|---|---|
| Synonymous | BRDG1, STAP-1 |
| Gene |
UniProtKB-ID:
STAP1_HUMAN,
A0A024RD91_HUMAN
UniprotKB:
Q9ULZ2,
A0A024RD91
UniParc:
UPI0000073E6C
EMBL:
AB023483,
BC014958,
AK313676,
CH471057
Ensembl:
ENSG00000035720
KO:
hsa:26228
|
| Nucleutide sequences |
EMBL-CDS:
BAG36427.1,
EAX05547.1,
BAA85311.1,
AAH14958.1,
EAX05548.1
Gene_ORFName:
hCG_40344
Ensembl_TRS:
ENST00000396225,
ENST00000265404
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000265404,
ENSP00000379527
RefSeq:
XP_016863507.1,
NP_001304698.1,
NP_036240.1
|
| Others |
UniRef100:
UniRef100_Q9ULZ2
UniRef90:
UniRef90_Q9ULZ2
UniRef50:
UniRef50_Q9ULZ2
UniGene:
Hs.435579
CCDS:
CCDS3515.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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