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5205 ATP8B1

5205

ATP8B1

ATPase phospholipid transporting 8B1

protein-coding

Homo sapiens

基因描述

Type Description
Definition ATPase phospholipid transporting 8B1

研究结论

Date Results Publications
2020-02-29 12:15:00 Progressive familial intrahepatic cholestasis 1 involves ATP8B1 gene encoding for aminophospholipid flippase FIC1. [review] 31105019
2019-06-15 11:12:00 Mutations in the genes responsible for PFIC may be involved in both young and adults with cryptogenic cholestasis in a considerable number of cases, including in heterozygous status. 29238877
2018-08-18 11:44:00 FIC1, BSEP, and MDR3 represent hepatobiliary transport proteins essential for bile formation. 28733223
2018-08-18 10:03:00 ATP8B1 deficiency caused incomplete polarization of human peripheral blood monocyte-derived macrophages into M2c, a subset alternatively activated macrophages. 29104077
2017-09-02 10:49:00 the first characterisation at the protein level of six ABCB4 variants (D243A, K435T, G535D, I490T, R545C, and S978P) previously found in patients with inflammatory liver diseases or liver cancer, is reported. 28220208

名称对应

Type IDs
Synonymous ATPIC, BRIC, FIC1, ICP1, PFIC, PFIC1
Gene
UniProtKB-ID: AT8B1_HUMAN
UniprotKB: O43520
UniParc: UPI000013DD54
EMBL: BC003534, AC027097, AF038007, AF032442
Ensembl: ENSG00000081923
KO: hsa:5205
Nucleutide sequences
EMBL-CDS: AAC04328.1, AAH03534.1, AAC63461.1
Ensembl_TRS: ENST00000648908
Protein sequencees
Ensembl_PRO: ENSP00000497896
RefSeq: NP_001361315.1, NP_005594.2, NP_001361314.1, XP_011524325.1
Others
UniRef100: UniRef100_O43520
UniRef90: UniRef90_O43520
UniRef50: UniRef50_O43520
UniGene: Hs.216623
CCDS: CCDS11965.1

全选

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研究热度

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