SRP54 (signal recognition particle 54)

2009-09-01  

Identity

HGNC
SRP54
LOCATION
14q13.2
LOCUSID
6729
ALIAS
SCN8
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
adrenal gland
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
345498142022Autosomal dominant Shwachman-Diamond syndrome with a novel heterozygous missense variant in the SRP54 gene causing severe phenotypic features.1
345498142022Autosomal dominant Shwachman-Diamond syndrome with a novel heterozygous missense variant in the SRP54 gene causing severe phenotypic features.1
330533212021Structural and Functional Impact of SRP54 Mutations Causing Severe Congenital Neutropenia.8
332278122021SRP54 mutations induce congenital neutropenia via dominant-negative effects on XBP1 splicing.10
330533212021Structural and Functional Impact of SRP54 Mutations Causing Severe Congenital Neutropenia.8
332278122021SRP54 mutations induce congenital neutropenia via dominant-negative effects on XBP1 splicing.10
322777982020Congenital neutropenia with variable clinical presentation in novel mutation of the SRP54 gene.7
322777982020Congenital neutropenia with variable clinical presentation in novel mutation of the SRP54 gene.7
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.9
306494172019Reconstitution of the human SRP system and quantitative and systematic analysis of its ribosome interactions.16
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.9
306494172019Reconstitution of the human SRP system and quantitative and systematic analysis of its ribosome interactions.16
299149772018Mutations in the SRP54 gene cause severe congenital neutropenia as well as Shwachman-Diamond-like syndrome.43
299149772018Mutations in the SRP54 gene cause severe congenital neutropenia as well as Shwachman-Diamond-like syndrome.43
289725382017Mutations 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/meetings/js/tumors-explorer/