SMARCC1 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 1)

2007-04-01  

Identity

HGNC
SMARCC1
LOCATION
3p21.31
LOCUSID
6599
ALIAS
BAF155,CRACC1,Rsc8,SRG3,SWI3
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 6599
MIM: 601732
HGNC: 11104
Ensembl: ENSG00000173473

Variants:

dbSNP: 6599
ClinVar: 6599
TCGA: ENSG00000173473
COSMIC: SMARCC1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000173473ENST00000254480Q92922
ENSG00000173473ENST00000454240F8WE13

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
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
381285482024A novel SMARCC1 BAFopathy implicates neural progenitor epigenetic dysregulation in human hydrocephalus.1
381285482024A novel SMARCC1 BAFopathy implicates neural progenitor epigenetic dysregulation in human hydrocephalus.1
368002902023RNF138 inhibits late inflammatory gene transcription through degradation of SMARCC1 of the SWI/SNF complex.5
372859322023First reports of fetal SMARCC1 related hydrocephalus.1
376392812023SMARCC1 is a susceptibility gene for congenital hydrocephalus with an autosomal dominant inheritance mode and incomplete penetrance.0
368002902023RNF138 inhibits late inflammatory gene transcription through degradation of SMARCC1 of the SWI/SNF complex.5
372859322023First reports of fetal SMARCC1 related hydrocephalus.1
376392812023SMARCC1 is a susceptibility gene for congenital hydrocephalus with an autosomal dominant inheritance mode and incomplete penetrance.0
351582022022Assembly and interaction of core subunits of BAF complexes and crystal study of the SMARCC1/SMARCE1 binary complex.2
351582022022Assembly and interaction of core subunits of BAF complexes and crystal study of the SMARCC1/SMARCE1 binary complex.2
339317402021Multiple interactions of the oncoprotein transcription factor MYC with the SWI/SNF chromatin remodeler.12
339533322021SWI/SNF subunit BAF155 N-terminus structure informs the impact of cancer-associated mutations and reveals a potential drug binding site.1
339317402021Multiple interactions of the oncoprotein transcription factor MYC with the SWI/SNF chromatin remodeler.12
339533322021SWI/SNF subunit BAF155 N-terminus structure informs the impact of cancer-associated mutations and reveals a potential drug binding site.1
322447972020A Coil-to-Helix Transition Serves as a Binding Motif for hSNF5 and BAF155 Interaction.2

Citation

Dessen P

SMARCC1 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 1)

Atlas Genet Cytogenet Oncol Haematol. 2007-04-01

Online version: http://atlasgeneticsoncology.org/gene/47173/haematological-explorer/js/lib/bootstrap.min.js