SRP54 (signal recognition particle 54)

2009-09-01  

Identity

HGNC
LOCATION
14q13.2
LOCUSID
ALIAS
SCN8
FUSION GENES

Other Information

Locus ID:

NCBI: 6729
MIM: 604857
HGNC: 11301
Ensembl: ENSG00000100883

Variants:

dbSNP: 6729
ClinVar: 6729
TCGA: ENSG00000100883
COSMIC: SRP54

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000100883ENST00000216774P61011
ENSG00000100883ENST00000546080P61011
ENSG00000100883ENST00000554803G3V346
ENSG00000100883ENST00000555557G3V4F7
ENSG00000100883ENST00000555746G3V480
ENSG00000100883ENST00000556380G3V3L9
ENSG00000100883ENST00000556994P61011
ENSG00000100883ENST00000630962A0A0D9SFN7

Expression (GTEx)

0
50
100
150

Pathways

PathwaySourceExternal ID
Protein exportKEGGko03060
Protein exportKEGGhsa03060
Metabolism of proteinsREACTOMER-HSA-392499
TranslationREACTOMER-HSA-72766
SRP-dependent cotranslational protein targeting to membraneREACTOMER-HSA-1799339
Gene ExpressionREACTOMER-HSA-74160

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
122442992002Induced structural changes of 7SL RNA during the assembly of human signal recognition particle.35
289725382017Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond-like features.21
299149772018Mutations in the <i>SRP54</i> gene cause severe congenital neutropenia as well as Shwachman-Diamond-like syndrome.11
301985702019Whole 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.2
306494172019Reconstitution of the human SRP system and quantitative and systematic analysis of its ribosome interactions.1

Citation

Dessen P

SRP54 (signal recognition particle 54)

Atlas Genet Cytogenet Oncol Haematol. 2009-09-01

Online version: http://atlasgeneticsoncology.org/gene/51107/srp54