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6729 SRP54

6729

SRP54

signal recognition particle 54

protein-coding

Homo sapiens

基因描述

Type Description
Definition signal recognition particle 54

研究结论

Date Results Publications
2020-08-22 15:25:00 Congenital neutropenia with variable clinical presentation in novel mutation of the SRP54 gene. 32277798
2020-05-09 13:18:00 Whole exome sequencing discloses heterozygous variants in the DNAJC21 and EFL1 genes but not in SRP54 in 6 out of 16 patients with Shwachman-Diamond Syndrome carrying biallelic SBDS mutations. 30198570
2019-10-12 10:55:00 e show that SRP RNA does not bind to the ribosome, while SRP binds with nanomolar affinity involving a two-step mechanism of the key-player SRP54. Ultrasensitive binding of SRP68/72 indicates avidity by multiple binding sites that are dominated by the C-terminus of SRP72 30649417
2019-07-27 13:00:00 This study identified SRP54 mutations in congenital neutropenia. SRP54 mutations induce endoplasmic reticulum stress and autophagy associated with apoptosis. 29914977
2017-11-25 15:47:00 autosomal dominant mutations in SRP54, a key member of the cotranslation protein-targeting pathway, lead to syndromic neutropenia with a Shwachman-Diamond-like phenotype. 28972538

名称对应

Type IDs
Gene
UniProtKB-ID: SRP54_HUMAN
UniprotKB: P61011
UniParc: UPI0000E23861, UPI0000135EE0
EMBL: AK300824, AK312853, BC003389, X86373, BC000652, U51920, AL049776
Ensembl: ENSG00000100883
KO: hsa:6729
Nucleutide sequences
EMBL-CDS: CAA60132.1, AAH00652.1, AAC50994.1, AAH03389.1, BAG35706.1, BAG62478.1
Ensembl_TRS: ENST00000546080, ENST00000216774, ENST00000556994
Protein sequencees
Ensembl_PRO: ENSP00000440629, ENSP00000216774, ENSP00000451818
RefSeq: NP_003127.1, XP_016877104.1, XP_005268081.1, XP_011535408.1, NP_001139754.1
Others
UniRef100: UniRef100_P61011
UniRef90: UniRef90_P61011
UniRef50: UniRef50_P61011
UniGene: Hs.167535
CCDS: CCDS53893.1, CCDS9652.1

全选

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