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87 ACTN1

87

ACTN1

actinin alpha 1

protein-coding

Homo sapiens

基因描述

Type Description
Definition actinin alpha 1

研究结论

Date Results Publications
2021-03-20 13:27:00 High ACTN1 Is Associated with Poor Prognosis, and ACTN1 Silencing Suppresses and Metastasis in Oral Squamous Cell Carcinoma. 32440097
2020-08-12 11:05:00 The G764S and E769K mutations increase cytoskeletal association of actinin in cells, and all mutant proteins colocalize with F-actin in cultured HeLa cells. 31365757
2020-05-09 13:35:00 Report identifies 11 new variants in ACTN1 gene providing significant insight into the mechanisms of ACTN1-related thrombocytopenia (ACTN1-RT) and highlights the high frequency of congenital ACTN1 variants as a cause of inherited thrombocytopenia. The rod domain in ACTN1 may harbor variants resulting in actin disorganization in vitro and thrombocytopenia with normal platelet size in most cases. 31237726
2020-05-09 11:15:00 Hematopoietic cell-specific Lyn substrate, HCLS1, is a versatile actin-binding protein in leukocytes. (Review) 30537294
2020-05-02 12:17:00 The expression of fascin-1 and actinin-4 is connected with the degree of pancreatic intraepithelial neoplasia (PanIN) Advancement and depends on the type of the primary disease. Overexpression of these proteins may be linked to cytological and architectural abnormalities observed in advanced PanIN. 31889512

名称对应

Type IDs
Synonymous BDPLT15
Gene
UniProtKB-ID: ACTN1_HUMAN, A0A024R694_HUMAN
UniprotKB: P12814, A0A024R694
UniParc: UPI000188EF14, UPI0000EE330A, UPI0000D79B2C, UPI0000043C25
EMBL: BT007207, BC015766, AK295099, BC003576, CH471061, X55187, DQ496098, GQ891539, EU716325, FJ410030, X15804, M95178, AL117694
Ensembl: ENSG00000072110
KO: hsa:87
Nucleutide sequences
EMBL-CDS: AAH15766.1, CAA33803.1, ACE62922.1, EAW80975.1, AAA51582.1, ACJ24535.1, BAG58135.1, AAH03576.1, AAP35871.1, ABF50047.1, CAA38970.1, ADO22401.1, EAW80971.1, EAW80976.1
Gene_ORFName: hCG_22243
Ensembl_TRS: ENST00000438964, ENST00000394419, ENST00000193403, ENST00000538545
Protein sequencees
Ensembl_PRO: ENSP00000193403, ENSP00000414272, ENSP00000439828, ENSP00000377941
RefSeq: XP_016877210.1, XP_016877212.1, XP_016877216.1, XP_016877217.1, NP_001123476.1, XP_016877211.1, XP_016877214.1, XP_016877209.1, XP_011535570.1, XP_011535569.1, XP_016877215.1, XP_011535567.1, NP_001093.1, XP_011535568.1, NP_001123477.1
Others
UniRef100: UniRef100_P12814
UniRef90: UniRef90_P12814
UniRef50: UniRef50_P35609
UniGene: Hs.509765
CCDS: CCDS45130.1, CCDS45129.1, CCDS9792.1

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