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FLASH GENE

Symbol

SMARCC1

contributors: mct - updated : 05-10-2015

HGNC name	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1
HGNC id	11104

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	196.03 kb     28 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

status

confirmed

Map	cen - D12S85 - D12S361 - SMARCC1 - D12S312 - SMARCC2 /D12S1691 - D12S104 - D12S329 - qter
Authors	Ring (98)

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_003074 28 - 5780 NP_003065 - 1105 - 2005 16199878

EXPRESSION

Type	ubiquitous

expressed in

(based on citations)

organ(s)

System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive mouth       moderately   salivary gland       moderately Endocrine thyroid       moderately Lymphoid/Immune lymph node       highly Reproductive female system breast mammary gland   moderately   female system ovary     moderately   female system uterus cervix   moderately   male system prostate     moderately   male system testis     highly Respiratory respiratory tract larynx     highly Urinary bladder       predominantly Visual eye       moderately

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular       moderately

cell lineage	in ES cells is compatible with self-renewal and pluripotency
cell lines
fluid/secretion	moderately in lymph

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a SWIRM domain, (SWI3, RSC8, and MOIRA) domain
	a SANT domain,(SWI3, ADA2, N-CoR, and TFIIIB) domain
	a C-terminus proline-glutamine rich domain playing a critical role in the tumor suppressor activity of this protein

conjugated

PhosphoP

HOMOLOGY

interspecies	homolog to rattus Smarcc1 (95.4 pc)
	homolog to murine Srg3 (94.7 pc)

Homologene

FAMILY	SWI/SNF family
	SMARCC family

CATEGORY

transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus,nucleoplasm
	intracellular,nucleus,chromatin/chromosome

basic FUNCTION	involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology)
	may stimulate the ATPase activity of the catalytic subunit of the complex
	has a scaffold function in stabilizing the SWI/SNF-like BAF complex by interacting directly with the core subunits SMARCA4, SMARCB1, and SMARCD1
	is potentially required for angiogenesis and visceral endoderm development in the yolk sac
	novel function in tumor suppression, providing insights into genetic pathways dictating tumor suppression by the SWI/SNF complex
	SMARCC2, SMARCC1 play essential roles in specification, olfactory neural stem cells (oNSCs) proliferation and olfactory receptor neurons (ORNs) maturation of developing olfactory epithelium
	SMARCC1 SWIRM is a modular domain involved in SMARCB1 interaction, which is functionally distinct from other characterized SWIRM domains that possess DNA binding activity

CELLULAR PROCESS	nucleotide, chromatin organization, remodeling
	nucleotide, transcription, regulation

PHYSIOLOGICAL PROCESS

text	actin-dependent regulator of chromatin structure

PATHWAY

metabolism

signaling

a component	component of five multiprotein chromatin-remodeling complexes
	phosphorylated on undefined residues at the G2/M transition by ERK1 and other kinases
	core component of SWI/SNF complex

INTERACTION

DNA

binding

RNA

small molecule

protein	interacts with SMARCA4 through its highly conserved SANT domain
	function as a tumor suppressor by modulating CDKN1A expression
	CHFR interacts with SMARCA4, SMARCB1, and SMARCD1 of the SWI/SNF-like BAF complex and ubiquitinates them to target for degradation through a proteasome-mediated pathway, and SMARCC1 stabilizes these components by blocking their interaction with CHFR
	interacts with SMARCB1 and SMARCD1 through its conserved SWIRM domain
	stabilizes SMARCD1 by inhibiting the ubiquitination of SMARCD1, which is induced by CHFR
	RBM15, a subunit of the m6A methyltransferase complex, interacts with SMARCC1 mRNA and mediates BAF155 mRNA degradation through the mRNA methylation machinery

cell & other

matrix associated

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --low   represents a mechanism for inactivation of SWI/SNF complex activity in the development in human cancer constitutional   deletion     in the hematopoietic lineage caused defects at both the common lymphoid progenitor stage and the transition from pre-pro-B to early pro-B cells due to failures in the expression of B lineage-specific genes, such as EBF1 and IL7R ( constitutional       loss of function promoted G1 cell-cycle arrest, but antagonized apoptotic response to DNA damage by robustly inducing TP53 and CDKN1A proteins tumoral     --over   in prostate cancer and reveal a positive correlation with tumour dedifferentiation, progression, metastasis and time to recurrence

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

Srg3 heterozygous mice were prone to sarcoma formation, which was further enhanced by haploinsufficiency of tp53