| Type | Description |
|---|---|
| Definition | selenoprotein N |
| Date | Results | Publications |
|---|---|---|
| 2020-11-21 13:26:00 | The clinical, histologic, and genotypic spectrum of SEPN1-related myopathy: A case series. | 32796131 |
| 2020-10-24 14:11:00 | Selenoprotein N is an endoplasmic reticulum calcium sensor that links luminal calcium levels to a redox activity. | 32817544 |
| 2020-05-09 12:20:00 | significantly down-regulated in mesangial cells exposed to high glucose or TGF-beta1 | 31880214 |
| 2018-02-24 11:17:00 | Case Report: rigid spine muscular dystrophy 1 in a compound heterozygote with two novel mutations in SEPN1 gene; a novel missense mutation (c.1384T>C; p.Sec462Arg) and a novel nonsense mutation (c.1525C>T; p.Gln509Ter), inherited from his father and mother respectively. | 27863379 |
| 2017-08-05 11:03:00 | We report two previously undescribed mutations in SEPN1. Our study adds two novel homozygous mutations to the number of reported pathogenic SEPN1 variants. | 26780752 |
| Type | IDs |
|---|---|
| Synonymous | CFTD, MDRS1, RSMD1, RSS, SELN, SEPN1 |
| Gene |
UniProtKB-ID:
SELN_HUMAN
UniprotKB:
Q9NZV5
UniParc:
UPI00003761B2,
UPI00003761B3
EMBL:
AJ306398,
AL020996,
AJ306399,
BC015638,
AF166125,
BC042154
Ensembl:
ENSG00000162430
KO:
hsa:57190
|
| Nucleutide sequences |
EMBL-CDS:
CAC83790.1,
AAH15638.1,
AAF21430.1,
AAH42154.1,
CAC83791.1
Ensembl_TRS:
ENST00000361547,
ENST00000374315
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000355141,
ENSP00000363434
RefSeq:
NP_996809.1,
NP_065184.2
|
| Others |
UniRef100:
UniRef100_Q9NZV5
UniRef90:
UniRef90_Q9NZV5
UniRef50:
UniRef50_Q9NZV5
UniGene:
Hs.323396
CCDS:
CCDS41282.1,
CCDS41283.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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