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4719 NDUFS1

4719

NDUFS1

NADH:ubiquinone oxidoreductase core subunit S1

protein-coding

Homo sapiens

基因描述

Type Description
Definition NADH:ubiquinone oxidoreductase core subunit S1

研究结论

Date Results Publications
2020-06-20 12:51:00 The biallelic mutations in NDUFS1 led to a decreased stability of the entire N-module of electron transport complex I and disrupted the electron transfer between two iron-sulfur clusters. 31557978
2019-10-26 10:18:00 MDM2 directly binds and sequesters NDUFS1, preventing its mitochondrial localization and ultimately causing complex I and supercomplex destabilization and inefficiency of oxidative phosphorylation. 30879903
2018-05-05 10:47:00 Results show that NDUFS1 protein and mRNA levels are down-regulated in lung neoplasm and correlate with poor overall survival. 27516145
2017-12-09 11:58:00 High NDUFS1 expression is associated with cognitive impairment in lung cancer. 26987334
2016-07-16 11:06:00 Results found nominal significant associations of 2 SNPs in the NDUFS1 gene and 4 SNPs in the NDUFS2 gene with early onset schizophrenia (EOS), but none of these associations survived the Bonferroni correction. 26053550

名称对应

Type IDs
Synonymous CI-75Kd, CI-75k, MC1DN5, PRO1304
Gene
UniProtKB-ID: NDUS1_HUMAN, E5KRK5_HUMAN
UniprotKB: P28331, E5KRK5
UniParc: UPI00017A7DEC, UPI00000702AF, UPI0000EE3600, UPI000198C6E3, UPI00017A7929
EMBL: HQ205716, HQ205733, HQ205715, HQ205708, HQ205743, HQ205706, HQ205721, HQ205714, AK298320, HQ205739, HQ205744, HQ205740, HQ205719, HQ205735, HQ205742, HQ205720, HQ205728, HQ205736, HQ205722, AC007383, BC022368, HQ205711, HQ205718, CH471063, HQ205717, HQ205710, BC030833, HQ205712, HQ205707, HQ205738, HQ205745, HQ205713, AK295705, HQ205726, HQ205737, HQ205723, HQ205729, X61100, HQ205725, HQ205709, HQ205734, HQ205741, AK300585, HQ205724, HQ205731, HQ205732, HQ205730, HQ205727, AK295987
Ensembl: ENSG00000023228, ENSG00000283447
KO: hsa:4719
Nucleutide sequences
EMBL-CDS: BAG58762.1, AAY15061.1, EAW70379.1, CAA43412.1, BAG60573.1, BAG58551.1, AAH30833.1, BAG62283.1, AAH22368.1, ADP91536.1, ADP91548.1, ADP91567.1, ADP91570.1, ADP91573.1, ADP91550.1, ADP91540.1, ADP91559.1, ADP91546.1, EAW70380.1, ADP91561.1, ADP91566.1, ADP91551.1, ADP91565.1, ADP91539.1, ADP91555.1, ADP91535.1, ADP91537.1, ADP91557.1, ADP91542.1, ADP91545.1, ADP91553.1, ADP91558.1, ADP91549.1, ADP91568.1, ADP91572.1, ADP91543.1, ADP91547.1, ADP91563.1, ADP91541.1, ADP91552.1, ADP91544.1, ADP91534.1, ADP91560.1, ADP91554.1, ADP91564.1, ADP91562.1, ADP91571.1, ADP91569.1, ADP91538.1, ADP91556.1
Gene_ORFName: hCG_17250
Ensembl_TRS: ENST00000233190, ENST00000637631, ENST00000637733, ENST00000637298, ENST00000637990, ENST00000423725, ENST00000636505, ENST00000635748, ENST00000455934, ENST00000440274, ENST00000432169, ENST00000449699
Protein sequencees
Ensembl_PRO: ENSP00000399912, ENSP00000489705, ENSP00000490583, ENSP00000409766, ENSP00000490092, ENSP00000233190, ENSP00000490766, ENSP00000490898, ENSP00000392709, ENSP00000397760, ENSP00000489640, ENSP00000409689
RefSeq: NP_004997.4, NP_001186911.1, NP_001186913.1, NP_001186912.1, NP_001186910.1
Others
UniRef100: UniRef100_P28331
UniRef90: UniRef90_P28331
UniRef50: UniRef50_P28331
UniGene: Hs.471207, Hs.598436
CCDS: CCDS56162.1, CCDS2366.1, CCDS56164.1, CCDS56163.1, CCDS56165.1

全选

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