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641 BLM

641

BLM

BLM RecQ like helicase

protein-coding

Homo sapiens

基因描述

Type Description
Definition BLM RecQ like helicase

研究结论

Date Results Publications
2021-02-13 13:27:00 Heterozygous germline BLM mutations increase susceptibility to asbestos and mesothelioma. 33318203
2021-01-23 12:58:00 iPSC line derived from a Bloom syndrome patient retains an increased disease-specific sister-chromatid exchange activity. 31918214
2020-12-12 13:23:00 Investigating the pathogenic SNPs in BLM helicase and their biological consequences by computational approach. 32704157
2020-06-06 11:19:00 BLM can neither associate with nor translocate on ssDNA that is bound by the recombinase protein RAD51. Moreover, these data reveal that the presence of RAD51 also blocks BLM translocation on dsDNA substrates and potential regulator roles for BLM helicase during DNA replication and repair. 31544923
2020-05-09 11:24:00 These results reveal that BLM limits interferon-stimulated gene induction, thus connecting DNA damage to cellular innate immune response, which may contribute to human pathogenesis. 30936263

名称对应

Type IDs
Synonymous BS, MGRISCE1, RECQ2, RECQL2, RECQL3
Gene
UniProtKB-ID: BLM_HUMAN, H0YNU5_HUMAN, B7ZKN7_HUMAN
UniprotKB: P54132, H0YNU5, B7ZKN7
UniParc: UPI000189A7B5, UPI00022F876E, UPI00001269FA
EMBL: U39817, KF511223, BC101567, AY886902, BC115030, AC124248, BC115032, BC093622, BC143280, AC021422
Ensembl: ENSG00000197299
KO: hsa:641
Nucleutide sequences
EMBL-CDS: AAI15031.1, AAW62255.1, AAI15033.1, AAA87850.1, AAH93622.1, AAI01568.1, AAI43281.1
Ensembl_TRS: ENST00000355112, ENST00000560509
Protein sequencees
Ensembl_PRO: ENSP00000347232, ENSP00000454158
RefSeq: NP_000048.1, NP_001274175.1, XP_006720695.1, NP_001274176.1, XP_011520184.1, NP_001274177.1, XP_011520183.1
Others
UniRef100: UniRef100_H0YNU5, UniRef100_P54132, UniRef100_B7ZKN7
UniRef90: UniRef90_P54132, UniRef90_G3QXK2, UniRef90_B7ZKN7
UniRef50: UniRef50_F7CZ93, UniRef50_P54132
UniGene: Hs.725208
CCDS: CCDS10363.1

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