Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 6729
MIM: 604857
HGNC: 11301
Ensembl: ENSG00000100883
Variants:
dbSNP: 6729
ClinVar: 6729
TCGA: ENSG00000100883
COSMIC: SRP54
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 34549814 | 2022 | Autosomal dominant Shwachman-Diamond syndrome with a novel heterozygous missense variant in the SRP54 gene causing severe phenotypic features. | 1 |
| 34549814 | 2022 | Autosomal dominant Shwachman-Diamond syndrome with a novel heterozygous missense variant in the SRP54 gene causing severe phenotypic features. | 1 |
| 33053321 | 2021 | Structural and Functional Impact of SRP54 Mutations Causing Severe Congenital Neutropenia. | 8 |
| 33227812 | 2021 | SRP54 mutations induce congenital neutropenia via dominant-negative effects on XBP1 splicing. | 10 |
| 33053321 | 2021 | Structural and Functional Impact of SRP54 Mutations Causing Severe Congenital Neutropenia. | 8 |
| 33227812 | 2021 | SRP54 mutations induce congenital neutropenia via dominant-negative effects on XBP1 splicing. | 10 |
| 32277798 | 2020 | Congenital neutropenia with variable clinical presentation in novel mutation of the SRP54 gene. | 7 |
| 32277798 | 2020 | Congenital neutropenia with variable clinical presentation in novel mutation of the SRP54 gene. | 7 |
| 30198570 | 2019 | 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. | 9 |
| 30649417 | 2019 | Reconstitution of the human SRP system and quantitative and systematic analysis of its ribosome interactions. | 16 |
| 30198570 | 2019 | 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. | 9 |
| 30649417 | 2019 | Reconstitution of the human SRP system and quantitative and systematic analysis of its ribosome interactions. | 16 |
| 29914977 | 2018 | Mutations in the SRP54 gene cause severe congenital neutropenia as well as Shwachman-Diamond-like syndrome. | 43 |
| 29914977 | 2018 | Mutations in the SRP54 gene cause severe congenital neutropenia as well as Shwachman-Diamond-like syndrome. | 43 |
| 28972538 | 2017 | Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond-like features. | 67 |
Citation
Dessen P
SRP54 (signal recognition particle 54)
Atlas Genet Cytogenet Oncol Haematol. 2009-09-01
Online version: http://atlasgeneticsoncology.org/gene/51107
