Type | Description |
---|---|
Definition | Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase |
Date | Results | Publications |
---|---|---|
2018-05-19 10:38:00 | Structural basis for early-onset neurological disorders caused by mutations in human selenocysteine synthase has been described. | 27576344 |
2017-07-01 10:36:00 | Epileptic encephalopathy with burst suppression without brain malformations is associated with pathogenic variation in SEPSECS. | 28133863 |
2017-04-08 10:52:00 | The progression of clinical symptoms in these families is evidently slower than in previously reported cases, and the cerebellar atrophy milder by brain MRI, indicating that SEPSECS mutations are also involved in milder late-onset cerebellar atrophy. | 26888482 |
2015-11-07 10:39:00 | results suggest SEPSECS as a candidate gene for progressive encephalopathies with lactate elevation. | 26115735 |
2014-12-27 12:58:00 | structural analysis of the terminal catalytic complex in selenocysteine synthesis | 25190812 |
Type | IDs |
---|---|
Synonymous | LP, PCH2D, SLA, SLA/LP |
Gene |
UniProtKB-ID:
SPCS_HUMAN,
A1A4F3_HUMAN
UniprotKB:
Q9HD40,
A1A4F3
UniParc:
UPI000020BDD0,
UPI0000DA58D0,
UPI0000073719,
UPI0001B30127
EMBL:
AJ238617,
AF282065,
BC126213,
BX648976,
AC104662,
CH471069,
BC023539,
AC007073,
AJ277541,
AK292476,
BC117202,
AF146396
Ensembl:
ENSG00000109618
KO:
hsa:51091
|
Nucleutide sequences |
EMBL-CDS:
BAF85165.1,
AAH23539.1,
AAI17203.1,
CAB89517.1,
CAB62209.1,
EAW92832.1,
AAG00491.1,
AAD33963.2,
EAW92835.1,
EAW92831.1,
AAI26214.1
Gene_ORFName:
hCG_18250
Ensembl_TRS:
ENST00000382103,
ENST00000514585
|
Protein sequencees |
Ensembl_PRO:
ENSP00000421880,
ENSP00000371535
RefSeq:
XP_011512150.1,
XP_011512148.1,
XP_016863766.1,
NP_058651.3,
XP_016863767.1,
XP_011512149.1
|
Others |
UniRef100:
UniRef100_Q9HD40,
UniRef100_A1A4F3
UniRef90:
UniRef90_Q9HD40-3,
UniRef90_Q9HD40
UniRef50:
UniRef50_Q9HD40
UniGene:
Hs.253305
CCDS:
CCDS3432.2
|
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