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1759 DNM1

1759

DNM1

dynamin 1

protein-coding

Homo sapiens

基因描述

Type Description
Definition dynamin 1

研究结论

Date Results Publications
2019-04-27 11:03:00 3.75 A resolution cryo-electron microscopy structure of the membrane-associated helical polymer of human dynamin-1 in the GMPPCP-bound state 30069048
2019-03-30 11:38:00 Cellular fluorescein hyperfluorescence is dynamin-dependent. 29800726
2018-09-29 11:14:00 The twin siblings exhibit mild to moderate intellectual disability and autistic symptoms but no epileptic encephalopathy. Exome sequencing revealed a genetic variant, c.1603A>G (p.Lys535Glu), in the PH domain of dynamin 1. The twin sisters studied here share the de novo variant, c.1603A>G (p.Lys535Glu) in exon 15 of DNM1, classified as likely pathogenic. 29397573
2018-09-01 10:36:00 The data show that the dynamin-amphiphysin helices are rearranged to form clusters upon GTP hydrolysis and membrane constriction occurs at protein-uncoated regions flanking the clusters. 29357276
2018-06-23 11:40:00 Together, these observations suggest that while endophilin helps shape endocytic tubules and recruit dynamin to endocytic sites, it can also block membrane fission when present in excess by inhibiting inter-dynamin interactions. 28933693

名称对应

Type IDs
Synonymous DNM, EIEE31
Gene
UniProtKB-ID: DYN1_HUMAN, B4DK06_HUMAN, B7ZAC0_HUMAN
UniprotKB: Q05193, B4DK06, B7ZAC0
UniParc: UPI00017A714A, UPI00019154E4, UPI0001662FE8, UPI0000E5AFCA, UPI00002283C8, UPI000013CA31
EMBL: AK296326, BC063850, AL590708, AK316235, L07810, L07809, L07808, BC050279, L07807
Ensembl: ENSG00000106976
KO: hsa:1759
Nucleutide sequences
EMBL-CDS: AAA02804.1, AAA02805.1, AAH63850.1, AAH50279.2, AAA02803.1, AAA02806.1, BAG59018.1, BAH14606.1
Ensembl_TRS: ENST00000341179, ENST00000475805, ENST00000393594, ENST00000372923, ENST00000627543, ENST00000486160
Protein sequencees
Ensembl_PRO: ENSP00000362014, ENSP00000377219, ENSP00000487310, ENSP00000345680, ENSP00000419225, ENSP00000420045
RefSeq: NP_004399.2, NP_001361198.1, NP_001275667.1, NP_001275666.1, NP_001005336.1, NP_001275668.1
Others
UniRef100: UniRef100_B4DK06, UniRef100_Q05193, UniRef100_B7ZAC0
UniRef90: UniRef90_P21575, UniRef90_B4DK06
UniRef50: UniRef50_Q08877-5, UniRef50_P39052
UniGene: Hs.522413
CCDS: CCDS6895.1, CCDS75911.1, CCDS75912.1, CCDS43882.1

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