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1778 DYNC1H1

1778

DYNC1H1

dynein cytoplasmic 1 heavy chain 1

protein-coding

Homo sapiens

基因描述

Type Description
Definition dynein cytoplasmic 1 heavy chain 1

研究结论

Date Results Publications
2020-05-23 10:15:00 Acting like a sponge of miR-140-5p, silenced circDYNC1H1 downregulated SULT2B1 to restrain HCC cell proliferation. 30864145
2020-02-22 11:53:00 Significantly decreased methylation of CpG islands within exon 37 of the DYNC1H1 gene was observed in patients with a severe SMA manifestation (type I) compared to mildly affected SMA patients (types III-IV). 30246859
2019-05-25 11:47:00 Over the years other phenotypes including Charcot Marie Tooth type 2 and hereditary mental retardation with cortical neural migration defects have also been reported to be caused by DYNC1H1 mutations 29306600
2019-01-12 10:19:00 Using in vitro total internal reflection fluorescence microscopy, the study observed that higher concentrations of Ndc80 inhibited dynein binding to microtubules, providing evidence that Ndc80 and dynein antagonize each other's function. 29475948
2018-09-01 10:54:00 Taken together, these results demonstrate DYNC1H1 as a strong candidate and RTP1 as a potential candidate on the onset of epileptic encephalopathies. 28325891

名称对应

Type IDs
Synonymous CMT2O, DHC1, DHC1a, DNCH1, DNCL, DNECL, DYHC, Dnchc1, HL-3, SMALED1, p22
Gene
UniProtKB-ID: DYHC1_HUMAN
UniprotKB: Q14204
UniParc: UPI00001B515A
EMBL: U53530, AB290157, BC021297, AY682080, L23958, AB002323
Ensembl: ENSG00000197102
KO: hsa:1778
Nucleutide sequences
EMBL-CDS: AAA16065.1, AAB09727.1, BAA20783.3, AAT74625.1, BAG06711.1, AAH21297.2
Ensembl_TRS: ENST00000360184
Protein sequencees
Ensembl_PRO: ENSP00000348965
RefSeq: NP_001367.2
Others
UniRef100: UniRef100_Q14204
UniRef90: UniRef90_Q14204
UniRef50: UniRef50_Q14204
UniGene: Hs.614080
CCDS: CCDS9966.1

全选

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