| Type | Description |
|---|---|
| Definition | adaptor related protein complex 2 subunit sigma 1 |
| Date | Results | Publications |
|---|---|---|
| 2019-08-24 12:26:00 | Hypercalcemia-associated AP2sigma mutations reduced calcium-sensing receptor (CaSR) signaling via Galphaq/11 and Galphai/o pathways. The mutations also delayed CaSR internalization due to prolonged residency time of CaSR in clathrin structures that impaired or abolished endosomal signaling. | 29420171 |
| 2017-08-19 10:05:00 | CaSR and AP2S1 sequencing is worthwhile in patients with familial hyperparathyroidism and phenotype suggesting familial hypocalciuric hypercalcemia as it can diagnose up to 50% of cases. | 28176280 |
| 2017-02-18 10:17:00 | In 33 CASR-negative patients with suspected FHH, Data found two (~6%) with a mutation in AP2S1 (p.Arg15Leu and p.Arg15His). Family screening confirmed the genotype-phenotype correlations. Data did not identify any pathogenic mutations in GNA11. | 27913609 |
| 2016-06-04 10:45:00 | our studies demonstrate AP2sigma2 mutations to result in a more severe FHH phenotype with genotype-phenotype correlations, and a dominant-negative mechanism of action with mutational bias at the Arg15 residue. | 26082470 |
| 2014-10-04 12:06:00 | The results affirm that a significant number of patients suspected of having Familial hypocalciuric hypercalcemia but proven negative for CASR mutation have AP2S1 p.R15 mutations. | 24731014 |
| Type | IDs |
|---|---|
| Synonymous | AP17, CLAPS2, FBH3, FBHOk, HHC3 |
| Gene |
UniProtKB-ID:
AP2S1_HUMAN,
M0R0N4_HUMAN,
X6R390_HUMAN,
M0QYZ2_HUMAN
UniprotKB:
P53680,
M0R0N4,
X6R390,
M0QYZ2
UniParc:
UPI0000E252A3,
UPI0000E252A2,
UPI0000071B72,
UPI000047E54D,
UPI0000000C79
EMBL:
AJ010148,
AC008622,
AK312003,
AJ010149,
CH471126,
X97074,
AC098794,
BC006337
Ensembl:
ENSG00000042753
KO:
hsa:1175
|
| Nucleutide sequences |
EMBL-CDS:
AAH06337.1,
CAA65782.1,
BAG34941.1,
CAA09018.1,
CAA09019.1,
EAW57448.1
Ensembl_TRS:
ENST00000601649,
ENST00000263270,
ENST00000599990,
ENST00000352203,
ENST00000601498
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000470898,
ENSP00000263270,
ENSP00000471340,
ENSP00000263271,
ENSP00000470176
RefSeq:
XP_011524726.1,
NP_001288007.1,
NP_004060.2,
NP_067586.1,
NP_001288010.1,
XP_011524725.1,
NP_001288005.1
|
| Others |
UniRef100:
UniRef100_X6R390,
UniRef100_M0R0N4,
UniRef100_P53680,
UniRef100_M0QYZ2
UniRef90:
UniRef90_G1PYC4,
UniRef90_P53680,
UniRef90_A0A6J3GKW7,
UniRef90_M0R0N4
UniRef50:
UniRef50_S9YVY8,
UniRef50_P53680
UniGene:
Hs.119591
CCDS:
CCDS33062.1,
CCDS12693.1
|
| {{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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