SMARCA1 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1)

2003-05-01  

Identity

HGNC
SMARCA1
LOCATION
Xq25
LOCUSID
6594
ALIAS
ISWI,NURF140,SNF2L,SNF2L1,SNF2LB,SNF2LT,SWI,SWI2,hSNF2L
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 6594
MIM: 300012
HGNC: 11097
Ensembl: ENSG00000102038

Variants:

dbSNP: 6594
ClinVar: 6594
TCGA: ENSG00000102038
COSMIC: SMARCA1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000102038ENST00000371121B7ZLQ5
ENSG00000102038ENST00000371122P28370
ENSG00000102038ENST00000371123A0A0A0MRP6

Expression (GTEx)

0
50
100
150
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

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
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
222338092012Convergent structural alterations define SWItch/Sucrose NonFermentable (SWI/SNF) chromatin remodeler as a central tumor suppressive complex in pancreatic cancer.88
153476692004Roles of Brahma and Brahma/SWI2-related gene 1 in hypoxic induction of the erythropoietin gene.34
309224022019Circular RNA circ-DONSON facilitates gastric cancer growth and invasion via NURF complex dependent activation of transcription factor SOX4.30
300985952018LncRNA DLEU1 contributes to colorectal cancer progression via activation of KPNA3.23
217388332011Binding kinetics of human ISWI chromatin-remodelers to DNA repair sites elucidate their target location mechanism.21
153107512004A tissue-specific, naturally occurring human SNF2L variant inactivates chromatin remodeling.19
199963042009Inhibition of expression of the chromatin remodeling gene, SNF2L, selectively leads to DNA damage, growth inhibition, and cancer cell death.19
270016142016Whole-genome sequencing in multiplex families with psychoses reveals mutations in the SHANK2 and SMARCA1 genes segregating with illness.19
254628602015Frequent involvement of chromatin remodeler alterations in gastric field cancerization.18
225089852012Nucleosome remodeler SNF2L suppresses cell proliferation and migration and attenuates Wnt signaling.10

Citation

Dessen P

SMARCA1 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1)

Atlas Genet Cytogenet Oncol Haematol. 2003-05-01

Online version: http://atlasgeneticsoncology.org/gene/42330/smarca1