| Type | Description |
|---|---|
| Definition | low density lipoprotein receptor adaptor protein 1 |
| Date | Results | Publications |
|---|---|---|
| 2020-05-30 10:04:00 | new variant in the LDLRAP1 gene associated with autosomal recessive hypercholesterolemia | 30876877 |
| 2019-11-02 11:58:00 | Case Report: combined variants in LDLR/LDLRAP1 genes trigger a severe familial hypercholesterolemia phenotype. | 30270081 |
| 2019-08-10 13:03:00 | Pathogenic mutations in LDLR, APOB, PCSK9 and LDLRAP1 genes were found in 17 of 225 patients with familial hypercholesterolemia leading to premature myocardial infarction. | 30971288 |
| 2019-06-29 13:01:00 | The results show that phosphorylated ARH1 has more ordered structure than the non-phosphorylated type. | 28963484 |
| 2017-10-07 11:00:00 | LDLRAP1 associated with Familial Hypercholesterolemia and Polygenic Hypercholesterolemia in patients with Acute Coronary Syndrome , age /=160 mg/dl. | 28958330 |
| Type | IDs |
|---|---|
| Synonymous | ARH, ARH1, ARH2, FHCB1, FHCB2 |
| Gene |
UniProtKB-ID:
ARH_HUMAN,
B3KR97_HUMAN
UniprotKB:
Q5SW96,
B3KR97
UniParc:
UPI0000470235,
UPI00005A69A4
EMBL:
AY389348,
BC029770,
AL117654,
AL606491,
BX572623,
AK091219
Ensembl:
ENSG00000157978
KO:
hsa:26119
|
| Nucleutide sequences |
EMBL-CDS:
AAQ90407.1,
CAB56030.2,
AAH29770.2,
BAG52309.1
Ensembl_TRS:
ENST00000374338
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000363458
RefSeq:
XP_016856484.1,
XP_011539514.1,
XP_011539513.1,
XP_011539512.1,
XP_006710624.1,
XP_016856483.1,
XP_024302083.1,
NP_056442.2,
XP_011539511.1,
XP_006710622.1,
XP_006710623.1
|
| Others |
UniRef100:
UniRef100_B3KR97,
UniRef100_Q5SW96
UniRef90:
UniRef90_Q5SW96,
UniRef90_A0A2K5QPR5
UniRef50:
UniRef50_H0WK15,
UniRef50_Q5SW96
UniGene:
Hs.590911
CCDS:
CCDS30639.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| 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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