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112752 IFT43

112752

IFT43

intraflagellar transport 43

protein-coding

Homo sapiens

基因描述

Type Description
Definition intraflagellar transport 43

研究结论

Date Results Publications
2018-05-26 11:11:00 Studies identified a novel homozygous mutation in the ciliary protein IFT43 as the underlying cause of recessive inherited retinal degeneration. This is the first report demonstrating the involvement of IFT43 in retinal degeneration. 28973684
2016-06-11 10:40:00 These results suggest that CED-4 forms a complex with ced-3 mRNA and delivers it to ribosomes for translation. 26740177
2011-10-01 12:09:00 C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome. 21378380

名称对应

Type IDs
Synonymous C14orf179, CED3, RP81, SRTD18
Gene
UniProtKB-ID: IFT43_HUMAN, A0A024R6A9_HUMAN
UniprotKB: Q96FT9, A0A024R6A9
UniParc: UPI00001FD8DE, UPI000013F70B, UPI00001FD8CF, UPI00001A838C
EMBL: AK302944, BC010436, CH471061, AC008015, AF107885, AK056735
Ensembl: ENSG00000119650
KO: hsa:112752
Nucleutide sequences
EMBL-CDS: BAG64101.1, AAF03245.1, BAG51798.1, AAC79728.1, AAH10436.1, EAW81246.1, EAW81248.1
Gene_ORFName: hCG_2028821
Ensembl_TRS: ENST00000238628, ENST00000542766, ENST00000314067, ENST00000556742
Protein sequencees
Ensembl_PRO: ENSP00000238628, ENSP00000324177, ENSP00000451096, ENSP00000440064
RefSeq: NP_001242924.1, NP_001096034.1, NP_443105.2
Others
UniRef100: UniRef100_A0A024R6A9, UniRef100_Q96FT9
UniRef90: UniRef90_A0A024R6A9, UniRef90_Q96FT9
UniRef50: UniRef50_Q96FT9
UniGene: Hs.532626
CCDS: CCDS58330.1, CCDS41973.1, CCDS9847.1

全选

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