ESRP1 (epithelial splicing regulatory protein 1)

2009-03-01 Affiliation

Identity

HGNC

ESRP1

LOCATION

8q22.1

LOCUSID

54845

ALIAS

DFNB109,RBM35A,RMB35A

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: 54845
MIM: 612959
HGNC: 25966
Ensembl: ENSG00000104413

Variants:

dbSNP: 54845
ClinVar: 54845
TCGA: ENSG00000104413
COSMIC: ESRP1

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000104413	ENST00000358397	Q6NXG1
ENSG00000104413	ENST00000423620	Q6NXG1
ENSG00000104413	ENST00000433389	Q6NXG1
ENSG00000104413	ENST00000454170	A0A2U3TZN9
ENSG00000104413	ENST00000517610	H0YBB3
ENSG00000104413	ENST00000519505	H0YBR2
ENSG00000104413	ENST00000522756	E5RI26
ENSG00000104413	ENST00000646773	Q6NXG1

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
Disease	REACTOME	R-HSA-1643685
Diseases of signal transduction	REACTOME	R-HSA-5663202
Signal Transduction	REACTOME	R-HSA-162582
Signaling by FGFR	REACTOME	R-HSA-190236
Signaling by FGFR2	REACTOME	R-HSA-5654738
FGFR2 alternative splicing	REACTOME	R-HSA-6803529
Oncogenic MAPK signaling	REACTOME	R-HSA-6802957
Signaling by BRAF and RAF fusions	REACTOME	R-HSA-6802952

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
19285943	2009	ESRP1 and ESRP2 are epithelial cell-type-specific regulators of FGFR2 splicing.	234
21876675	2011	An EMT-driven alternative splicing program occurs in human breast cancer and modulates cellular phenotype.	199
20711167	2010	An ESRP-regulated splicing programme is abrogated during the epithelial-mesenchymal transition.	157
19829082	2009	The epithelial splicing factors ESRP1 and ESRP2 positively and negatively regulate diverse types of alternative splicing events.	91
22037216	2012	TGF-β drives epithelial-mesenchymal transition through δEF1-mediated downregulation of ESRP.	88
22354987	2012	Genome-wide determination of a broad ESRP-regulated posttranscriptional network by high-throughput sequencing.	75
27500490	2016	ZEB1 drives epithelial-to-mesenchymal transition in lung cancer.	62
25143390	2014	Epithelial splicing regulatory proteins 1 (ESRP1) and 2 (ESRP2) suppress cancer cell motility via different mechanisms.	45
22961986	2012	Snail represses the splicing regulator epithelial splicing regulatory protein 1 to promote epithelial-mesenchymal transition.	33
24077287	2014	Epithelial splicing regulatory protein 1 is a favorable prognostic factor in pancreatic cancer that attenuates pancreatic metastases.	23

Citation

Dessen P

ESRP1 (epithelial splicing regulatory protein 1)

Atlas Genet Cytogenet Oncol Haematol. 2009-03-01

Online version: http://atlasgeneticsoncology.org/gene/50792/esrp1