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1605 DAG1

1605

DAG1

dystroglycan 1

protein-coding

Homo sapiens

基因描述

Type Description
Definition dystroglycan 1

研究结论

Date Results Publications
2021-02-20 13:30:00 The Molecular Basis and Biologic Significance of the beta-Dystroglycan-Emerin Interaction. 32824881
2020-06-20 11:04:00 A novel DAG1 mutation has been found in a Chinese pedigree with rare, mild and late age of onset muscular dystrophy-dystroglycanopathy. 30450679
2020-05-09 10:25:00 findings demonstrate that a lack of matriglycan on alpha-dystroglycan is a common feature in rhabdomyosarcoma due to the downregulation of LARGE1, and that ectopic expression of LARGE1 can restore matriglycan modifications and the ability of alpha-dystroglycan to function as an extracellular matrix receptor 31054580
2019-02-23 11:02:00 This review focuses on two particular non-integrin laminin receptors in the epithelial context: dystroglycan and 37/67 laminin receptor (37/67LR).The 37/67LR is a still incompletely understood laminin receptor that is important to regulate intestinal epithelial cell function and could be involved in various pathological conditions. 30736907
2018-12-22 10:43:00 Study identified beta-dystroglycan as a substrate of WWP1 and found that the muscular dystrophy-causing mutation of WWP1 renders the enzyme hyperactive by relieving autoinhibition. 29635000

名称对应

Type IDs
Synonymous 156DAG, A3a, AGRNR, DAG, LGMDR16, MDDGA9, MDDGC7, MDDGC9
Gene
UniProtKB-ID: DAG1_HUMAN, A0A024R2W4_HUMAN
UniprotKB: Q14118, A0A024R2W4
UniParc: UPI000013EDAE, UPI000006DA85
EMBL: AK291692, BC014616, BC012740, CH471055, L19711, AC104452
Ensembl: ENSG00000173402
KO: hsa:1605
Nucleutide sequences
EMBL-CDS: EAW64989.1, AAH14616.1, AAH12740.1, BAF84381.1, AAA81779.1, EAW64990.1
Gene_ORFName: hCG_20125
Ensembl_TRS: ENST00000539901, ENST00000515359, ENST00000541308, ENST00000538711, ENST00000308775, ENST00000545947, ENST00000673708
Protein sequencees
Ensembl_PRO: ENSP00000440590, ENSP00000440705, ENSP00000312435, ENSP00000438421, ENSP00000442600, ENSP00000439334, ENSP00000501140
RefSeq: NP_001171112.1, NP_001171107.1, NP_001171115.1, NP_001171113.1, NP_001171109.1, NP_001171111.1, NP_001171114.1, NP_001159400.2, NP_001171110.1, NP_001171105.1, NP_001171108.1, NP_004384.5, NP_001171106.1
Others
UniRef100: UniRef100_A0A024R2W4, UniRef100_Q14118
UniRef90: UniRef90_Q14118
UniRef50: UniRef50_Q14118
UniGene: Hs.76111
CCDS: CCDS2799.1

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