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

2006-10-01  

Identity

HGNC
SMARCE1
LOCATION
17q21.2
LOCUSID
6605
ALIAS
BAF57,CSS5
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 6605
MIM: 603111
HGNC: 11109
Ensembl: ENSG00000073584

Variants:

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

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000073584ENST00000264640Q969G3
ENSG00000073584ENST00000348513Q969G3
ENSG00000073584ENST00000348513A0A024R1S7
ENSG00000073584ENST00000377808Q969G3
ENSG00000073584ENST00000400122Q969G3
ENSG00000073584ENST00000431889B4DGM3
ENSG00000073584ENST00000447024Q969G3
ENSG00000073584ENST00000474246J3QL66
ENSG00000073584ENST00000478349J3QKS7
ENSG00000073584ENST00000481231J3QL66
ENSG00000073584ENST00000577721J3KT85
ENSG00000073584ENST00000578044Q969G3
ENSG00000073584ENST00000578112J3QS32
ENSG00000073584ENST00000580419A0A2U3TZQ7
ENSG00000073584ENST00000580654J3QR61
ENSG00000073584ENST00000582955J3QKX6
ENSG00000073584ENST00000642459A0A2R8Y7U4
ENSG00000073584ENST00000643318Q969G3
ENSG00000073584ENST00000643683Q969G3
ENSG00000073584ENST00000643683A0A024R1S7
ENSG00000073584ENST00000643806A0A2R8YDD9
ENSG00000073584ENST00000644527A0A2R8Y4T4
ENSG00000073584ENST00000644701Q969G3
ENSG00000073584ENST00000644909A0A2R8YD78
ENSG00000073584ENST00000645104A0A2R8Y7I9
ENSG00000073584ENST00000645227A0A2R8YFC8
ENSG00000073584ENST00000645478A0A2R8YEB8
ENSG00000073584ENST00000646283A0A2R8YES3
ENSG00000073584ENST00000646482A0A2R8Y855
ENSG00000073584ENST00000646856J3QS32
ENSG00000073584ENST00000647294A0A2R8YDQ4
ENSG00000073584ENST00000647508Q969G3
ENSG00000073584ENST00000647515A0A2R8Y765

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
Chromatin organizationREACTOMER-HSA-4839726
Chromatin modifying enzymesREACTOMER-HSA-3247509
RMTs methylate histone argininesREACTOMER-HSA-3214858

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
351582022022Assembly and interaction of core subunits of BAF complexes and crystal study of the SMARCC1/SMARCE1 binary complex.2
359781512022SMARCE1 promotes neuroblastoma tumorigenesis through assisting MYCN-mediated transcriptional activation.6
351582022022Assembly and interaction of core subunits of BAF complexes and crystal study of the SMARCC1/SMARCE1 binary complex.2
359781512022SMARCE1 promotes neuroblastoma tumorigenesis through assisting MYCN-mediated transcriptional activation.6
331859832021The importance of genetic counseling and screening for people with pathogenic SMARCE1 variants: A family study.2
333193132021Clear cell meningiomas are defined by a highly distinct DNA methylation profile and mutations in SMARCE1.18
336700122021BAF57/SMARCE1 Interacting with Splicing Factor SRSF1 Regulates Mechanical Stress-Induced Alternative Splicing of Cyclin D1.9
347324132021BAF57 Is a Potential Determinant of Colorectal Cancer Malignancy.1
331859832021The importance of genetic counseling and screening for people with pathogenic SMARCE1 variants: A family study.2
333193132021Clear cell meningiomas are defined by a highly distinct DNA methylation profile and mutations in SMARCE1.18
336700122021BAF57/SMARCE1 Interacting with Splicing Factor SRSF1 Regulates Mechanical Stress-Induced Alternative Splicing of Cyclin D1.9
347324132021BAF57 Is a Potential Determinant of Colorectal Cancer Malignancy.1
327834022020Long noncoding RNA HOTTIP promotes the metastatic potential of ovarian cancer through the regulation of the miR-615-3p/SMARCE1 pathway.5
330108892020Crystal structure of the HMG domain of human BAF57 and its interaction with four-way junction DNA.3
327834022020Long noncoding RNA HOTTIP promotes the metastatic potential of ovarian cancer through the regulation of the miR-615-3p/SMARCE1 pathway.5

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