| Type | Description |
|---|---|
| Definition | POP1 homolog, ribonuclease P/MRP subunit |
| Date | Results | Publications |
|---|---|---|
| 2021-01-16 15:57:00 | The novel R211Q POP1 homozygous mutation causes different pathogenesis and skeletal changes from those of previously reported POP1-associated anauxetic dysplasia. | 32134183 |
| 2018-03-17 11:49:00 | Biallelic POP1 mutations were identified in both. A missense mutation and a novel single base deletion were detected in proband 1, p.[Pro582Ser]:[Glu870fs*5]. Markedly reduced abundance of and elevated levels of pre5.8s rRNA was observed. In proband 2, a homozygous novel POP1 mutation was identified | 28067412 |
| 2017-10-21 11:52:00 | we reported the third case with POP1-related AAD. This phenotype may appropriately be termed AAD type 2. | 27380734 |
| 2015-11-21 10:54:00 | by inhibiting inflammasome assembly, provides a regulatory feedback loop that shuts down excessive inflammatory responses; Cryopyrin-Associated Periodic Syndrome patients exhibit reduced expression | 26275995 |
| 2015-08-01 12:02:00 | S-palmitoylation alters conformation or secondary structure of Trx1, as well as decreases the ability of Trx1 to transfer electrons from thioredoxin reductase to S-nitrosylated protein-tyrosine phosphatase 1B and S-nitroso-glutathione | 25839653 |
| Type | IDs |
|---|---|
| Synonymous | ANXD2 |
| Gene |
UniProtKB-ID:
POP1_HUMAN,
Q96F88_HUMAN
UniprotKB:
Q99575,
Q96F88
UniParc:
UPI000006D38E,
UPI0000131F33
EMBL:
X99302,
CH471060,
BC011529,
AK291434,
D31765
Ensembl:
ENSG00000104356
KO:
hsa:10940
|
| Nucleutide sequences |
EMBL-CDS:
BAA06543.1,
CAA67684.1,
EAW91776.1,
BAF84123.1,
AAH11529.1
Ensembl_TRS:
ENST00000349693,
ENST00000401707
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000385787,
ENSP00000339529
RefSeq:
NP_055844.2,
XP_011515103.1,
NP_001139333.1,
NP_001139332.1
|
| Others |
UniRef100:
UniRef100_Q96F88,
UniRef100_Q99575
UniRef90:
UniRef90_Q99575
UniRef50:
UniRef50_Q99575
UniGene:
Hs.252828
CCDS:
CCDS6277.1
|
| {{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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