SIL1 (SIL1 nucleotide exchange factor)

2016-05-01  

Identity

HGNC
SIL1
LOCATION
5q31.2
LOCUSID
64374
ALIAS
BAP,MSS,ULG5
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 64374
MIM: 608005
HGNC: 24624
Ensembl: ENSG00000120725

Variants:

dbSNP: 64374
ClinVar: 64374
TCGA: ENSG00000120725
COSMIC: SIL1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000120725ENST00000265195Q9H173
ENSG00000120725ENST00000265195A0A0S2Z6B4
ENSG00000120725ENST00000394817Q9H173
ENSG00000120725ENST00000394817A0A0S2Z6B4
ENSG00000120725ENST00000505353D6R940
ENSG00000120725ENST00000505830D6RG16
ENSG00000120725ENST00000505945A0RZB6
ENSG00000120725ENST00000507002D6RAI3
ENSG00000120725ENST00000508639D6RIU8
ENSG00000120725ENST00000509534D6REA1
ENSG00000120725ENST00000513453D6RBP7

Expression (GTEx)

0
10
20
30
40
50
60
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 processing in endoplasmic reticulumKEGGko04141
Protein processing in endoplasmic reticulumKEGGhsa04141

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
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
390608752024Exome sequencing revealed variants in SGCA and SIL1 genes underlying limb girdle muscular dystrophy and Marinesco-Sjögren syndrome patients.0
390608752024Exome sequencing revealed variants in SGCA and SIL1 genes underlying limb girdle muscular dystrophy and Marinesco-Sjögren syndrome patients.0
371161652023Down-regulation and Clinic-pathological Correlation of SIK-1 and SIK-1-LNC in Non-small Cell Lung Cancer Patients.0
371161652023Down-regulation and Clinic-pathological Correlation of SIK-1 and SIK-1-LNC in Non-small Cell Lung Cancer Patients.0
348303302021Proteomic Analysis of Marinesco-Sjogren Syndrome Fibroblasts Indicates Pro-Survival Metabolic Adaptation to SIL1 Loss.7
348303302021Proteomic Analysis of Marinesco-Sjogren Syndrome Fibroblasts Indicates Pro-Survival Metabolic Adaptation to SIL1 Loss.7
317911912020Nucleotide exchange factor SIL1 promotes the progress of breast cancer cells via regulating the cell cycle and apoptosis.5
317911912020Nucleotide exchange factor SIL1 promotes the progress of breast cancer cells via regulating the cell cycle and apoptosis.5
304688642019SIL1 deficiency causes degenerative changes of peripheral nerves and neuromuscular junctions in fish, mice and human.7
304688642019SIL1 deficiency causes degenerative changes of peripheral nerves and neuromuscular junctions in fish, mice and human.7
293232812018Bap (Sil1) regulates the molecular chaperone BiP by coupling release of nucleotide and substrate.19
302935662018PERK inhibition attenuates the abnormalities of the secretory pathway and the increased apoptotic rate induced by SIL1 knockdown in HeLa cells.5
293232812018Bap (Sil1) regulates the molecular chaperone BiP by coupling release of nucleotide and substrate.19
302935662018PERK inhibition attenuates the abnormalities of the secretory pathway and the increased apoptotic rate induced by SIL1 knockdown in HeLa cells.5
264681562016Cellular Signature of SIL1 Depletion: Disease Pathogenesis due to Alterations in Protein Composition Beyond the ER Machinery.19

Citation

Dessen P

SIL1 (SIL1 nucleotide exchange factor)

Atlas Genet Cytogenet Oncol Haematol. 2016-05-01

Online version: http://atlasgeneticsoncology.org/gene/55779