SMARCE1 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1)

2006-10-01 Affiliation

Identity

HGNC

SMARCE1

LOCATION

17q21.2

LOCUSID

6605

ALIAS

BAF57,CSS5

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: 6605
MIM: 603111
HGNC: 11109
Ensembl: ENSG00000073584

Variants:

dbSNP: 6605
ClinVar: 6605
TCGA: ENSG00000073584
COSMIC: SMARCE1

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000073584	ENST00000264640	Q969G3
ENSG00000073584	ENST00000348513	Q969G3
ENSG00000073584	ENST00000348513	A0A024R1S7
ENSG00000073584	ENST00000377808	Q969G3
ENSG00000073584	ENST00000400122	Q969G3
ENSG00000073584	ENST00000431889	B4DGM3
ENSG00000073584	ENST00000447024	Q969G3
ENSG00000073584	ENST00000474246	J3QL66
ENSG00000073584	ENST00000478349	J3QKS7
ENSG00000073584	ENST00000481231	J3QL66
ENSG00000073584	ENST00000577721	J3KT85
ENSG00000073584	ENST00000578044	Q969G3
ENSG00000073584	ENST00000578112	J3QS32
ENSG00000073584	ENST00000580419	A0A2U3TZQ7
ENSG00000073584	ENST00000580654	J3QR61
ENSG00000073584	ENST00000582955	J3QKX6
ENSG00000073584	ENST00000642459	A0A2R8Y7U4
ENSG00000073584	ENST00000643318	Q969G3
ENSG00000073584	ENST00000643683	Q969G3
ENSG00000073584	ENST00000643683	A0A024R1S7
ENSG00000073584	ENST00000643806	A0A2R8YDD9
ENSG00000073584	ENST00000644527	A0A2R8Y4T4
ENSG00000073584	ENST00000644701	Q969G3
ENSG00000073584	ENST00000644909	A0A2R8YD78
ENSG00000073584	ENST00000645104	A0A2R8Y7I9
ENSG00000073584	ENST00000645227	A0A2R8YFC8
ENSG00000073584	ENST00000645478	A0A2R8YEB8
ENSG00000073584	ENST00000646283	A0A2R8YES3
ENSG00000073584	ENST00000646482	A0A2R8Y855
ENSG00000073584	ENST00000646856	J3QS32
ENSG00000073584	ENST00000647294	A0A2R8YDQ4
ENSG00000073584	ENST00000647508	Q969G3
ENSG00000073584	ENST00000647515	A0A2R8Y765

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
Chromatin organization	REACTOME	R-HSA-4839726
Chromatin modifying enzymes	REACTOME	R-HSA-3247509
RMTs methylate histone arginines	REACTOME	R-HSA-3214858

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
23377182	2013	Loss-of-function mutations in SMARCE1 cause an inherited disorder of multiple spinal meningiomas.	49
16199878	2005	Regulating SWI/SNF subunit levels via protein-protein interactions and proteasomal degradation: BAF155 and BAF170 limit expression of BAF57.	47
16769725	2006	The SWI/SNF chromatin remodeling subunit BAF57 is a critical regulator of estrogen receptor function in breast cancer cells.	43
25168959	2014	Genotype-phenotype correlation of Coffin-Siris syndrome caused by mutations in SMARCB1, SMARCA4, SMARCE1, and ARID1A.	28
16135788	2005	The BRG1- and hBRM-associated factor BAF57 induces apoptosis by stimulating expression of the cylindromatosis tumor suppressor gene.	27
20829358	2010	Ubiquitin-dependent and ubiquitin-independent control of subunit stoichiometry in the SWI/SNF complex.	19
25143307	2014	Germline SMARCE1 mutations predispose to both spinal and cranial clear cell meningiomas.	19
20460533	2010	A role for BAF57 in cell cycle-dependent transcriptional regulation by the SWI/SNF chromatin remodeling complex.	17
25656847	2015	SMARCE1 suppresses EGFR expression and controls responses to MET and ALK inhibitors in lung cancer.	16
23493350	2013	Aberrant BAF57 signaling facilitates prometastatic phenotypes.	15

Citation

Dessen P

SMARCE1 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1)

Atlas Genet Cytogenet Oncol Haematol. 2006-10-01

Online version: http://atlasgeneticsoncology.org/gene/43494/smarce1-(swi-snf-related-matrix-associated-actin-dependent-regulator-of-chromatin-subfamily-e-member-1)