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230233 Elp1

230233

Elp1

elongator complex protein 1

protein-coding

Mus musculus

基因描述

Type Description
Definition elongator complex protein 1

研究结论

Date Results Publications
2020-11-21 13:13:00 Loss of Ikbkap/Elp1 in mouse oocytes causes spindle disorganization, developmental defects in preimplantation embryos and impaired female fertility. 31827135
2019-03-16 12:36:00 This splice-switching class of molecules is the first to specifically correct the ELP1 exon 20 splicing defect. Our data provide proof of principle of ExSpeU1s-adeno-associated virus particles as a novel therapeutic strategy for FD. 29701768
2018-12-22 10:07:00 Although mitochondrial impairment was detected in all Ikbkap-deficient retinal neurons, retinal ganglion cells were the only cell type to degenerate; the survival of other retinal neurons was unaffected. 29929962
2018-06-23 11:54:00 data reveal an essential function for Ikbkap that extends beyond the peripheral nervous system to CNS development and function 28167615
2017-10-28 11:15:00 Results show that although Ikbkap is not required for normal development of retinal ganglion cells, its loss causes a slow, progressive retinal ganglion cells degeneration most severely in the temporal retina, which is later followed by indirect photoreceptor loss and complete retinal disorganization. 27699209

名称对应

Type IDs
Synonymous 3110040G09Rik, 6030413P05, C78473, IKAP, Ikbkap
Gene
UniProtKB-ID: ELP1_MOUSE
UniprotKB: Q7TT37
UniParc: UPI0000022EAB
EMBL: AK035944, AK004402, AL807762, BC052387, AK076152, AF140786, AF367244, AK147153, BC054468, AL929577, AF387811
Ensembl: ENSMUSG00000028431
KO: mmu:230233
Nucleutide sequences
EMBL-CDS: BAC29252.1, BAC36221.1, AAO15309.1, AAL40925.1, AAL36025.1, BAB23291.1, AAH54468.1, BAE27720.1, AAH52387.2
Ensembl_TRS: ENSMUST00000030140
Protein sequencees
Ensembl_PRO: ENSMUSP00000030140
RefSeq: NP_080355.2, XP_030109279.1
Others
UniRef100: UniRef100_Q7TT37
UniRef90: UniRef90_Q7TT37
UniRef50: UniRef50_Q7TT37
UniGene: Mm.282743
CCDS: CCDS38765.1

全选

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