GSPT1 (G1 to S phase transition 1)

2003-11-01 Affiliation

Identity

HGNC

GSPT1

LOCATION

16p13.13

LOCUSID

2935

ALIAS

551G9.2,ETF3A,GST1,eRF3a

FUSION GENES

Show Gene Fusions

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: 2935
MIM: 139259
HGNC: 4621
Ensembl: ENSG00000103342

Variants:

dbSNP: 2935
ClinVar: 2935
TCGA: ENSG00000103342
COSMIC: GSPT1

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000103342	ENST00000420576	P15170
ENSG00000103342	ENST00000434724	P15170
ENSG00000103342	ENST00000439887	P15170
ENSG00000103342	ENST00000562169	H3BMT9
ENSG00000103342	ENST00000563468	P15170
ENSG00000103342	ENST00000565267	H3BR35
ENSG00000103342	ENST00000568849	H3BSV8

Expression (GTEx)

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

Pathway	Source	External ID
mRNA surveillance pathway	KEGG	ko03015
mRNA surveillance pathway	KEGG	hsa03015
Metabolism of proteins	REACTOME	R-HSA-392499
Translation	REACTOME	R-HSA-72766
Eukaryotic Translation Termination	REACTOME	R-HSA-72764
Gene Expression	REACTOME	R-HSA-74160
Nonsense-Mediated Decay (NMD)	REACTOME	R-HSA-927802
Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)	REACTOME	R-HSA-975957
Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC)	REACTOME	R-HSA-975956

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
16452507	2006	Binding of a novel SMG-1-Upf1-eRF1-eRF3 complex (SURF) to the exon junction complex triggers Upf1 phosphorylation and nonsense-mediated mRNA decay.	245
19165527	2009	Prefrontal cortex shotgun proteome analysis reveals altered calcium homeostasis and immune system imbalance in schizophrenia.	56
15987998	2005	Involvement of human release factors eRF3a and eRF3b in translation termination and regulation of the termination complex formation.	32
15908960	2005	A newly discovered function for RNase L in regulating translation termination.	30
27418677	2016	PABP enhances release factor recruitment and stop codon recognition during translation termination.	27
20418951	2010	Molecular basis of eRF3 recognition by the MLLE domain of poly(A)-binding protein.	21
12865429	2003	The polypeptide chain-releasing factor GSPT1/eRF3 is proteolytically processed into an IAP-binding protein.	17
15987717	2005	Polyglycine expansions in eRF3/GSPT1 are associated with gastric cancer susceptibility.	16
26503584	2015	Identification of four new susceptibility loci for testicular germ cell tumour.	14
19424636	2009	eRF3a/GSPT1 12-GGC allele increases the susceptibility for breast cancer development.	9

Citation

Dessen P

GSPT1 (G1 to S phase transition 1)

Atlas Genet Cytogenet Oncol Haematol. 2003-11-01

Online version: http://atlasgeneticsoncology.org/gene/40762/gspt1