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10102 TSFM

10102

TSFM

Ts translation elongation factor, mitochondrial

protein-coding

Homo sapiens

基因描述

Type Description
Definition Ts translation elongation factor, mitochondrial

研究结论

Date Results Publications
2017-07-29 10:07:00 Different TSFM mutations can produce the same or very different clinical phenotypes, going from abortions to moderately severe presentations. On the other hand, the same TSFM mutation can also produce same or different phenotypes within the same range of presentations, therefore suggesting the involvement of unknown factors. 27677415
2014-12-27 11:11:00 show that in addition to early-onset cardiomyopathy, TSFM mutations should be considered in childhood and juvenile encephalopathies with optic and/or peripheral neuropathy, ataxia, or Leigh disease 25037205
2012-05-26 10:46:00 identified a homozygous mutation changing a highly conserved arginine into a tryptophan (R312W) in a kindred with intrauterine growth retardation, neonatal lactic acidosis, liver dysfunction and multiple respiratory chain deficiency in muscle 21741925
2010-12-05 22:09:00 Observational study of gene-disease association. (HuGE Navigator) 20877624
2010-01-21 00:00:00 Molecular modeling showed that the Arg333Trp substitution disrupts local subdomain structure and the dimerization interface. 17033963

名称对应

Type IDs
Synonymous EFTS, EFTSMT
Gene
UniProtKB-ID: EFTS_HUMAN, E5KS95_HUMAN
UniprotKB: P43897, E5KS95
UniParc: UPI0000129D50, UPI000189212F, UPI000002A8C3, UPI0000EE26BD
EMBL: HQ205911, HQ205944, HQ205926, HQ205917, HQ205914, HQ205942, AF110399, HQ205921, CH471054, HQ205931, HQ205930, HQ205936, AC025165, HQ205923, HQ205938, HQ205929, HQ205915, L37936, HQ205919, HQ205908, HQ205912, HQ205934, HQ205922, HQ205918, HQ205927, HQ205933, HQ205945, HQ205943, AK304621, HQ205916, HQ205909, HQ205939, HQ205907, BC093068, HQ205913, BC022862, HQ205925, HQ205941, AK308981, HQ205906, HQ205940, HQ205920, HQ205937, HQ205924, HQ205935, HQ205928, HQ205910, HQ205932
Ensembl: ENSG00000123297
KO: hsa:10102
Nucleutide sequences
EMBL-CDS: EAW97075.1, BAG65403.1, AAD20224.1, AAH93068.1, AAH22862.1, AAC37577.1, ADP91786.1, ADP91782.1, ADP91783.1, ADP91811.1, ADP91784.1, ADP91790.1, ADP91775.1, ADP91785.1, ADP91804.1, ADP91780.1, ADP91796.1, ADP91809.1, ADP91807.1, ADP91777.1, ADP91799.1, ADP91810.1, ADP91776.1, ADP91805.1, ADP91791.1, ADP91813.1, ADP91793.1, ADP91803.1, ADP91800.1, ADP91788.1, ADP91797.1, ADP91778.1, ADP91792.1, ADP91787.1, ADP91802.1, ADP91812.1, ADP91801.1, ADP91795.1, ADP91798.1, ADP91808.1, ADP91806.1, ADP91781.1, ADP91789.1, ADP91774.1, ADP91779.1, ADP91794.1
Ensembl_TRS: ENST00000652027, ENST00000323833, ENST00000543727, ENST00000540550
Protein sequencees
Ensembl_PRO: ENSP00000440987, ENSP00000313877, ENSP00000439342, ENSP00000499171
RefSeq: NP_001166166.1, NP_001166168.1, NP_005717.3, NP_001166167.1
Others
UniRef100: UniRef100_P43897
UniRef90: UniRef90_P43897
UniRef50: UniRef50_P43897
UniGene: Hs.632704
CCDS: CCDS53809.1, CCDS53810.1, CCDS53811.1, CCDS8958.2

全选

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