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3047 HBG1

3047

HBG1

hemoglobin subunit gamma 1

protein-coding

Homo sapiens

基因描述

Type Description
Definition hemoglobin subunit gamma 1

研究结论

Date Results Publications
2021-01-16 15:55:00 Comparative targeting analysis of KLF1, BCL11A, and HBG1/2 in CD34(+) HSPCs by CRISPR/Cas9 for the induction of fetal hemoglobin. 32576837
2020-07-04 10:10:00 a new mutation, which is a deletion of GCAG in the HBG1 promoter at position -273. This deletion could affect a binding site of a transcription factor unknown so far and thus modulate the expression of the HBG1 gene. 31688634
2019-08-17 11:30:00 This study explored BGLT3, an erythroid lncRNA encoded downstream of (A)gamma-globin (HBG1). BGLT3 and gamma-globin genes are dynamically cotranscribed in erythroid cells in vivo. Deletion of BGLT3 using CRISPR/Cas9 editing shows that it specifically contributes to regulation of gamma-globin genes. 30150205
2019-05-11 10:18:00 Some forms of hereditary persistence of fetal hemoglobin, a rare benign condition where individuals express the gamma-globin gene throughout adulthood, are caused by point mutations in the gamma-globin gene promoter at regions residing ~115 and 200 bp upstream of the transcription start site. We found that the major fetal globin gene repressors BCL11A and ZBTB7A directly bound to the sites at -115 and -200 bp, respecti... 29610478
2018-10-27 12:02:00 Data suggest that studying genotype frequency of the Xmn1 gammaG globin polymorphism (-158C>T ) in Siwa Oasis, Egypt can be considered as a starting point for further research targeting this community sector. 29932071

名称对应

Type IDs
Synonymous HBG-T2, HBGA, HBGR, HSGGL1, PRO2979
Gene
UniProtKB-ID: HBG1_HUMAN, D9YZU8_HUMAN
UniprotKB: P69891, D9YZU8
UniParc: UPI0000000B06, UPI00000711A9
EMBL: BC010913, J00176, V00514, M91036, V00513, CH471064, AF130098, AF487523, GU324925, LT548098, U01317, M91037, BC020719
Ensembl: ENSG00000213934
KO: hsa:3047
Nucleutide sequences
EMBL-CDS: AAA58493.1, AAB59429.1, CAA23772.1, EAW68804.1, AAG35523.1, AAA52637.1, AAA16332.1, CAA23771.1, AAH10913.1, AAH20719.1, AAL99545.1, ADL14496.1, SAI82132.1
Gene_ORFName: PRO2979
Ensembl_TRS: ENST00000330597
Protein sequencees
Ensembl_PRO: ENSP00000327431
RefSeq: NP_000550.2
Others
UniRef100: UniRef100_D9YZU8, UniRef100_P69891
UniRef90: UniRef90_P69892
UniRef50: UniRef50_P69892
UniGene: Hs.702189
CCDS: CCDS7754.1

全选

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