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26092 TOR1AIP1

26092

TOR1AIP1

torsin 1A interacting protein 1

protein-coding

Homo sapiens

基因描述

Type Description
Definition torsin 1A interacting protein 1

研究结论

Date Results Publications
2020-03-28 11:34:00 Two novel cases further expand the phenotype of TOR1AIP1-associated nuclear envelopathies. 32055997
2019-04-13 11:08:00 All seven patients are homozygous for a nonsense mutation in the TOR1AIP1 gene resulting in the loss of both protein isoforms LAP1B and LAP1C. 30723199
2018-02-17 11:33:00 LAP1 protein encoded by TOR1AIP1 may play a role in dysferlinopathy pathogenesis 28110863
2015-08-22 10:47:00 LAP1 co-localizes with acetylated alpha-tubulin in the mitotic spindle and with gamma-tubulin in centrosomes (main microtubule organizing center) in mitotic cells. 25323962
2015-06-27 11:00:00 Data show that mutation of arginine 563 in lamina-associated polypeptide 1 (LAP1) reduces its ability to stimulate TorsinA ATPase hydrolysis. 25149450

名称对应

Type IDs
Synonymous LAP1, LAP1B, LGMD2Y
Gene
UniProtKB-ID: TOIP1_HUMAN
UniprotKB: Q5JTV8
UniParc: UPI00004A3A74, UPI0000071AF9, UPI0000203C95
EMBL: AK021613, AL050126, AK001780, AK291495, AL353708, BC023247, AK023204
Ensembl: ENSG00000143337
KO: hsa:26092
Nucleutide sequences
EMBL-CDS: BAB14461.1, BAF84184.1, BAB13855.1, AAH23247.1, BAA91906.1, CAB43282.1
Ensembl_TRS: ENST00000528443, ENST00000606911
Protein sequencees
Ensembl_PRO: ENSP00000476687, ENSP00000435365
RefSeq: NP_001254507.1, NP_056417.2
Others
UniRef100: UniRef100_Q5JTV8
UniRef90: UniRef90_Q5JTV8
UniRef50: UniRef50_Q5JTV8
UniGene: Hs.496459
CCDS: CCDS1335.1, CCDS65737.1

全选

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研究热度

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