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21 ABCA3

21

ABCA3

ATP binding cassette subfamily A member 3

protein-coding

Homo sapiens

基因描述

Type Description
Definition ATP binding cassette subfamily A member 3

研究结论

Date Results Publications
2021-02-06 13:57:00 ABCA3 mutations in adult pulmonary fibrosis patients: a case series and review of literature. 32238781
2020-11-28 13:14:00 of ABCA3 Variants. 32692933
2020-08-15 19:06:00 Potentiation of ABCA3 lipid transport function by ivacaftor and genistein. 31210424
2020-02-29 11:29:00 The assay presented in this work probes the choline containing lipid transport function of ABCA3. Visualization and quantification of fluorescence intensity of the labeled lipids inside ABCA3+ vesicles at equilibrium can specifically assess the transport function of ABCA3. 31473345
2020-01-04 11:27:00 Mutations in adenosine triphosphate-binding cassette transporter A3 (ABCA3) (OMIM: 601615) gene constitute the most frequent genetic cause of severe neonatal respiratory distress syndrome (RDS) and interstitial lung disease (ILD) in children. 31331098

名称对应

Type IDs
Synonymous ABC-C, ABC3, EST111653, LBM180, SMDP3
Gene
UniProtKB-ID: ABCA3_HUMAN, Q4LE27_HUMAN
UniprotKB: Q99758, Q4LE27
UniParc: UPI00001FFB90, UPI0000001232, UPI000054C939
EMBL: AB210044, U78735, AC106820, BC140895, BC062779, DQ073080, X97187, BC146866, AC098805, BC020724, CH471112, AB070929, AC009065
Ensembl: ENSG00000167972
KO: hsa:21
Nucleutide sequences
EMBL-CDS: AAI40896.1, AAH62779.1, AAH20724.1, AAY57325.1, CAA65825.1, EAW85515.1, BAB86781.1, AAI46867.1, AAC50967.1, BAE06126.1
Ensembl_TRS: ENST00000567910, ENST00000301732
Protein sequencees
Ensembl_PRO: ENSP00000301732, ENSP00000454397
RefSeq: NP_001080.2
Others
UniRef100: UniRef100_H0Y3H2, UniRef100_Q99758
UniRef90: UniRef90_Q99758
UniRef50: UniRef50_Q99758
UniGene: Hs.26630
CCDS: CCDS10466.1

全选

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