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22 ABCB7

22

ABCB7

ATP binding cassette subfamily B member 7

protein-coding

Homo sapiens

基因描述

Type Description
Definition ATP binding cassette subfamily B member 7

研究结论

Date Results Publications
2021-02-06 13:51:00 Evolution of the human mitochondrial ABCB7 [2Fe-2S](GS)4 cluster exporter and the molecular mechanism of an E433K disease-causing mutation. 33157103
2020-11-28 13:12:00 ABCB7 simultaneously regulates apoptotic and non-apoptotic cell death by modulating mitochondrial and HIF1alpha-driven NFkappaB signaling. 31772327
2020-08-01 11:08:00 ABCB7 and ABCB10 homodimers form an architecturally defined molecular complex required for heme biosynthesis 30765471
2017-08-19 11:27:00 data support a model in which cycloheximide -induced downregulation of the iron exporter ABCB7 mRNA transcript resulting from aberrant splicing caused by mutant SF3B1 underlies the increased mitochondrial iron accumulation found in MDS patients with ring sideroblasts 27211273
2016-12-17 10:59:00 A missense mutation in the ABCB7 is a major causative factor of the cerebellar hypoplasia/atrophy found in affected individuals of a Buryat family who had no evidence of sideroblastic anemia. 26242992

名称对应

Type IDs
Synonymous ABC7, ASAT, Atm1p, EST140535
Gene
UniProtKB-ID: ABCB7_HUMAN, A0A087WW65_HUMAN, A0A0S2Z2Z3_HUMAN
UniprotKB: O75027, A0A087WW65, A0A0S2Z2Z3
UniParc: UPI000299A059, UPI0000125116, UPI0000169E78, UPI0000EE5FBE
EMBL: AF241882, AF241881, KU177872, AF241877, AF241872, AF241873, AF241886, AF038950, AF241883, AF133659, AF241885, AL359545, BC006323, BT009918, AF241887, AF241880, AF241875, AF241876, AL590232, CH471104, AF241878, AF241874, AF078777, AB005289, AL360179, AF241879, AF241884
Ensembl: ENSG00000131269
KO: hsa:22
Nucleutide sequences
EMBL-CDS: AAD47141.1, AAD33045.1, AAP88920.1, BAA28861.1, AAH06323.1, EAW98635.1, AAK20173.1, AAC39865.1, EAW98636.1, ALQ33330.1
Gene_ORFName: hCG_19369
Ensembl_TRS: ENST00000253577, ENST00000339447, ENST00000373394, ENST00000620875
Protein sequencees
Ensembl_PRO: ENSP00000253577, ENSP00000343849, ENSP00000362492, ENSP00000479985
RefSeq: NP_001258627.1, NP_004290.2, NP_001258626.1, NP_001258628.1, NP_001258625.1
Others
UniRef100: UniRef100_O75027, UniRef100_O75027-2, UniRef100_A0A087WW65
UniRef90: UniRef90_O75027, UniRef90_O75027-3
UniRef50: UniRef50_O75027
UniGene: Hs.370480
CCDS: CCDS65291.1, CCDS14428.1, CCDS65290.1

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