| Type | Description |
|---|---|
| Definition | NPR3 like, GATOR1 complex subunit |
| Date | Results | Publications |
|---|---|---|
| 2020-04-11 12:53:00 | Our results implicate the association of NPRL3 with hemimegalencephaly, expanding the phenotypic spectrum of NPRL3 in FFEVF and underlining that partial deletions are part of the genotypic spectrum of NPRL3 variants | 31111464 |
| 2019-04-20 10:10:00 | overall, 63 distinct variants were identified: 53 in DEPDC5, three in NPRL2 and seven in NPRL3 . Among these, 46 were novel (including 39 single nucleotide variants and seven CNVs) and 16 were newly defined as recurrent variants; 34 were loss-of-function (LoF) variants (nonsense, splice-site, frameshift indels and CNVs). | 30093711 |
| 2017-06-03 12:11:00 | This study demonstrated that mutation of NPRL3 in familial focal epilepsies and focal cortical dysplasia. | 27173016 |
| 2016-06-28 11:17:00 | NPRL3 mutations are significant cause of focal epilepsy. | 26505888 |
| 2016-06-28 10:43:00 | Mutations in NPRL3 are a novel cause of familial cortical dysplasia. | 26285051 |
| Type | IDs |
|---|---|
| Synonymous | C16orf35, CGTHBA, FFEVF3, HS-40, MARE, NPR3, RMD11 |
| Gene |
UniProtKB-ID:
NPRL3_HUMAN,
B7Z6Q0_HUMAN,
B7Z220_HUMAN,
Q9BTE2_HUMAN
UniprotKB:
Q12980,
B7Z6Q0,
B7Z220,
Q9BTE2
UniParc:
UPI000013790E,
UPI00019152E2,
UPI0001914D7E,
UPI000006EFB8
EMBL:
Z84722,
X90857,
KF456132,
DQ431198,
BC012825,
BC004185,
KF510417,
AK294228,
Z69720,
Z69666,
AK300736,
CH471112,
Z84813,
AK090717,
KF459691
Ensembl:
ENSG00000103148
KO:
hsa:8131
|
| Nucleutide sequences |
EMBL-CDS:
EAW85867.1,
CAA62368.1,
CAI94885.1,
EAW85865.1,
CAI95611.1,
ABD95907.1,
BAH13336.1,
BAH11706.1,
AAH04185.1,
BAG52219.1,
AAH12825.1,
EAW85868.1
Gene_ORFName:
hCG_1984129
Ensembl_TRS:
ENST00000620134,
ENST00000611875,
ENST00000399953
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000483814,
ENSP00000478273,
ENSP00000382834
RefSeq:
NP_001034565.1,
NP_001070818.1,
NP_001230178.1,
NP_001230177.1,
NP_001230176.1
|
| Others |
UniRef100:
UniRef100_B7Z6Q0,
UniRef100_Q12980,
UniRef100_Q9BTE2,
UniRef100_B7Z220
UniRef90:
UniRef90_A0A0G2K0K3,
UniRef90_Q12980,
UniRef90_K7FZY6
UniRef50:
UniRef50_Q12980,
UniRef50_A0A1D5PQD7,
UniRef50_A0A0G2K0K3
UniGene:
Hs.19699
CCDS:
CCDS73795.1
|
| {{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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