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84905 ZNF341

84905

ZNF341

zinc finger protein 341

protein-coding

Homo sapiens

基因描述

Type Description
Definition zinc finger protein 341

研究结论

Date Results Publications
2019-04-06 11:40:00 Study reports two distinct homozygous nonsense mutations in exons 6 and 8 of ZNF341 in four consanguineous families with recurrent bacterial and fungal infections. ZNF341 mutations segregate with a phenotype resembling hyper-immunoglobulin E syndrome. Authors describe ZNF341 as a positive regulator of expression and report the clinical and laboratory phenotype of individuals lacking ZNF341. 29907690
2019-04-06 11:40:00 Human ZNF341 is essential for the transcription-dependent autoinduction and sustained activity of 29907691

名称对应

Type IDs
Synonymous HIES3
Gene
UniProtKB-ID: ZN341_HUMAN, Q504V9_HUMAN
UniprotKB: Q9BYN7, Q504V9
UniParc: UPI000050D02A, UPI000022B43D, UPI0000470A07
EMBL: BC132873, AL050349, BC157823, BC144188, AK027550, BC094738, BC146811, CH471077
Ensembl: ENSG00000131061
KO: hsa:84905
Nucleutide sequences
EMBL-CDS: EAW76295.1, AAI32874.1, AAI44189.1, BAB55193.1, AAI57824.1, AAI46812.1, AAH94738.1
Ensembl_TRS: ENST00000375200, ENST00000342427
Protein sequencees
Ensembl_PRO: ENSP00000364346, ENSP00000344308
RefSeq: NP_001269864.1, NP_001269862.1, NP_116208.3
Others
UniRef100: UniRef100_Q9BYN7, UniRef100_Q504V9
UniRef90: UniRef90_Q9BYN7, UniRef90_A0A337S1G7
UniRef50: UniRef50_Q9BYN7, UniRef50_Q9BYN7-2
UniGene: Hs.516989
CCDS: CCDS13227.1, CCDS74719.1

全选

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研究热度

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