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1174 AP1S1

1174

AP1S1

adaptor related protein complex 1 subunit sigma 1

protein-coding

Homo sapiens

基因描述

Type Description
Definition adaptor related protein complex 1 subunit sigma 1

研究结论

Date Results Publications
2020-09-26 13:06:00 AP1S1 missense mutations cause a congenital enteropathy via an epithelial barrier defect. 32306098
2013-04-27 10:38:00 We solved the pathogenetic mechanism of MEDNIK syndrome, demonstrating that AP1S1 regulates intracellular copper machinery mediated by copper-pump proteins 23423674
2010-01-21 00:00:00 A splice mutation in AP1S1 was found in four families with a neurocutaneous syndrome. 19057675
2008-05-07 12:00:00 Isolation and description of the rat and mouse genes. 2040623

名称对应

Type IDs
Synonymous AP19, CLAPS1, EKV3, MEDNIK, SIGMA1A
Gene
UniProtKB-ID: AP1S1_HUMAN, A0A024QYT6_HUMAN
UniprotKB: P61966, A0A024QYT6
UniParc: UPI0000027F3C, UPI000002A2E6
EMBL: AB015319, AC004876, CH471197, AK312151, BT006779, BC003561
Ensembl: ENSG00000106367
KO: hsa:1174
Nucleutide sequences
EMBL-CDS: AAH03561.1, AAD45829.1, AAP35425.1, BAG35085.1, BAA33391.1, EAW50199.1, EAW50200.1
Gene_ORFName: hCG_17348
Ensembl_TRS: ENST00000337619, ENST00000443943
Protein sequencees
Ensembl_PRO: ENSP00000410780, ENSP00000336666
RefSeq: NP_001274.1
Others
UniRef100: UniRef100_P61966
UniRef90: UniRef90_P61966
UniRef50: UniRef50_P61966
UniGene: Hs.489365
CCDS: CCDS47669.1

全选

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研究热度

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