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51091 SEPSECS

51091

SEPSECS

Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase

protein-coding

Homo sapiens

基因描述

Type Description
Definition Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase

研究结论

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

名称对应

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

全选

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