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1600 DAB1

1600

DAB1

DAB adaptor protein 1

protein-coding

Homo sapiens

基因描述

Type Description
Definition DAB adaptor protein 1

研究结论

Date Results Publications
2020-06-20 12:40:00 Our study strongly suggests that Dab1 may be a potential tumour suppressor gene in breast cancer. 30484953
2020-04-04 10:54:00 The appearance of DAB1 and Reelin during fetal kidney development confirms their potential significant role in the formation of kidney structure or function. High DAB1 expression in the DCT implies its regulatory role in tubular formation or function maintenance during development. 31894918
2019-08-17 10:42:00 our findings provide direct evidence for the impaired Reelin-DAB1 transduction cascade in a patient with deleterious variants in the RELN gene, suggest, for the first time, an abnormal interplay between Reelin-DAB1 and mTORC1 signaling pathways in a patient with nonsyndromic ASD 29969175
2018-09-08 12:01:00 In intestine a truncated Dab1 variant transmits the reelin signal and may play a role in clathrin-mediated apical endocytosis and in the control of cell-to-cell junction assembly. Dab1 variant may be a nucleocytoplasmic shuttling protein, inferred from its sequence and nuclear location. 29470947
2017-08-05 10:11:00 these results establish an unstable repeat insertion in DAB1 as a cause of cerebellar degeneration. 28686858

名称对应

Type IDs
Synonymous SCA37
Gene
UniProtKB-ID: DAB1_HUMAN
UniprotKB: O75553
UniParc: UPI000153BFAA, UPI000013EE33, UPI0000204438, UPI0000350B4A, UPI000040DC2E, UPI0000470B70
EMBL: BC112938, AL139219, BC067445, AK095513, AF263547, AL354883, BC067446, AL161740, BC067447, AF071062, CH471059, AB210012
Ensembl: ENSG00000173406
KO: hsa:1600
Nucleutide sequences
EMBL-CDS: AAH67447.1, BAG53075.1, EAX06637.1, BAE06094.1, AAF73058.1, AAH67445.1, AAI12939.1, AAH67446.1, AAC70068.1
Ensembl_TRS: ENST00000371236, ENST00000371230, ENST00000420954, ENST00000414851, ENST00000371231
Protein sequencees
Ensembl_PRO: ENSP00000360275, ENSP00000395296, ENSP00000360274, ENSP00000360280, ENSP00000387581
RefSeq: NP_001352723.1, NP_001366391.1, NP_001352721.1, NP_001340912.1, NP_001340914.1, NP_001352722.1, NP_001340915.1, NP_066566.3, NP_001352724.1, NP_001366390.1, NP_001340909.1
Others
UniRef100: UniRef100_O75553
UniRef90: UniRef90_O75553
UniRef50: UniRef50_O75553
UniGene: Hs.477370
CCDS: CCDS607.1

全选

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