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6834 SURF1

6834

SURF1

SURF1 cytochrome c oxidase assembly factor

protein-coding

Homo sapiens

基因描述

Type Description
Definition SURF1 cytochrome c oxidase assembly factor

研究结论

Date Results Publications
2021-04-17 13:18:00 Defective metabolic programming impairs early neuronal morphogenesis in neural cultures and an organoid model of Leigh syndrome. 33771987
2021-04-03 13:28:00 Novel p.P298L SURF1 mutation in thiamine deficient Leigh syndrome patients compromises cytochrome c oxidase activity. 32380162
2019-09-07 11:03:00 Role of SURF1 in etiology of Leigh syndrome in Slovakia. 29715184
2019-03-30 12:11:00 studies support the view that COX assembly is much more dependent on SURF1 in humans than in mice. 26804654
2018-08-25 11:51:00 SURF1 mutations may be associated with worse clinical outcome in Chinese patients with Leigh syndrome than other populations. 29933018

名称对应

Type IDs
Synonymous CMT4K
Gene
UniProtKB-ID: SURF1_HUMAN, E5KRX5_HUMAN, A0A087WYS9_HUMAN
UniprotKB: Q15526, E5KRX5, A0A087WYS9
UniParc: UPI000178DE89, UPI000013622E, UPI000057A19D
EMBL: HQ205825, HQ205812, HQ205804, HQ205792, HQ205801, KU178341, AL158826, HQ205819, HQ205820, HQ205790, HQ205824, HQ205811, Z35093, AK291122, HQ205818, HQ205795, HQ205788, HQ205815, HQ205789, HQ205807, BC028314, HQ205796, HQ205821, HQ205809, AL593848, HQ205816, HQ205786, HQ205791, HQ205823, HQ205810, HQ205798, HQ205800, HQ205797, HQ205787, HQ205802, HQ205805, HQ205808, HQ205822, HQ205803, HQ205813, HQ205794, HQ205799, HQ205793, BC071658, HQ205814, HQ205817, HQ205806
Ensembl: ENSG00000148290, ENSG00000280627
KO: hsa:6834
Nucleutide sequences
EMBL-CDS: CAI12836.1, CAI12837.1, AAH28314.1, BAF83811.1, CAA84476.1, AAH71658.1, ADP91693.1, ADP91670.1, ADP91668.1, ADP91675.1, ADP91685.1, ADP91686.1, ADP91676.1, ADP91674.1, ADP91688.1, ADP91660.1, ADP91677.1, ADP91671.1, ADP91667.1, ADP91681.1, ADP91692.1, ADP91656.1, ADP91654.1, ADP91684.1, ADP91687.1, ADP91659.1, ADP91678.1, ADP91666.1, ADP91683.1, ADP91665.1, ADP91669.1, ADP91682.1, ADP91673.1, ADP91658.1, ADP91690.1, ADP91657.1, ADP91661.1, ADP91672.1, ADP91691.1, ADP91664.1, ALQ33799.1, ADP91680.1, ADP91655.1, ADP91662.1, ADP91689.1, ADP91663.1, ADP91679.1
Ensembl_TRS: ENST00000626663, ENST00000371974, ENST00000615505
Protein sequencees
Ensembl_PRO: ENSP00000361042, ENSP00000487158, ENSP00000482067
RefSeq: NP_001267716.1, NP_003163.1, XP_011517244.1
Others
UniRef100: UniRef100_Q15526
UniRef90: UniRef90_Q15526
UniRef50: UniRef50_Q15526
UniGene: Hs.512464
CCDS: CCDS6966.1

全选

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研究热度

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