ESRP1 (epithelial splicing regulatory protein 1)

2009-03-01  

Identity

HGNC
ESRP1
LOCATION
8q22.1
LOCUSID
54845
ALIAS
DFNB109,RBM35A,RMB35A
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 54845
MIM: 612959
HGNC: 25966
Ensembl: ENSG00000104413

Variants:

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

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000104413ENST00000358397Q6NXG1
ENSG00000104413ENST00000423620Q6NXG1
ENSG00000104413ENST00000433389Q6NXG1
ENSG00000104413ENST00000454170A0A2U3TZN9
ENSG00000104413ENST00000517610H0YBB3
ENSG00000104413ENST00000519505H0YBR2
ENSG00000104413ENST00000522756E5RI26
ENSG00000104413ENST00000646773Q6NXG1

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
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
DiseaseREACTOMER-HSA-1643685
Diseases of signal transductionREACTOMER-HSA-5663202
Signal TransductionREACTOMER-HSA-162582
Signaling by FGFRREACTOMER-HSA-190236
Signaling by FGFR2REACTOMER-HSA-5654738
FGFR2 alternative splicingREACTOMER-HSA-6803529
Oncogenic MAPK signalingREACTOMER-HSA-6802957
Signaling by BRAF and RAF fusionsREACTOMER-HSA-6802952

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
379664902024Splicing factor ESRP1 derived circ_0068162 promotes the progression of oral squamous cell carcinoma via the miR-186/JAG axis.0
380154682024ESRP1 controls biogenesis and function of a large abundant multiexon circRNA.1
379664902024Splicing factor ESRP1 derived circ_0068162 promotes the progression of oral squamous cell carcinoma via the miR-186/JAG axis.0
380154682024ESRP1 controls biogenesis and function of a large abundant multiexon circRNA.1
369251952023The Role of ESRP1 in the Regulation of PHGDH in Estrogen Receptor-Positive Breast Cancer.1
370272952023Matrix stiffness regulates tumor cell intravasation through expression and ESRP1-mediated alternative splicing of MENA.8
369251952023The Role of ESRP1 in the Regulation of PHGDH in Estrogen Receptor-Positive Breast Cancer.1
370272952023Matrix stiffness regulates tumor cell intravasation through expression and ESRP1-mediated alternative splicing of MENA.8
344957662022Overexpression of Epithelial Splicing Regulatory Protein 1 in Metastatic Lesions of Serous Ovarian Carcinoma Correlates with Poor Patient Prognosis.1
349863872022Silencing ESRP1 expression promotes caspase-independent cell death via nuclear translocation of AIF in colon cancer cells.5
344957662022Overexpression of Epithelial Splicing Regulatory Protein 1 in Metastatic Lesions of Serous Ovarian Carcinoma Correlates with Poor Patient Prognosis.1
349863872022Silencing ESRP1 expression promotes caspase-independent cell death via nuclear translocation of AIF in colon cancer cells.5
332378362021APC regulation of ESRP1 and p120-catenin isoforms in colorectal cancer cells.12
334550172021Prognostic role of TSPAN1, KIAA1324 and ESRP1 in prostate cancer.8
334954082021ESRP1 regulates alternative splicing of CARM1 to sensitize small cell lung cancer cells to chemotherapy by inhibiting TGF-β/Smad signaling.12

Citation

Dessen P

ESRP1 (epithelial splicing regulatory protein 1)

Atlas Genet Cytogenet Oncol Haematol. 2009-03-01

Online version: http://atlasgeneticsoncology.org/gene/50792/gene-fusions/favicon/favicon-32x32.png