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FLASH GENE

Symbol

SMARCAD1

contributors: mct - updated : 20-02-2016

HGNC name	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1
HGNC id	18398

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	ADERM adermatoglyphia
Location	4q22.3      Physical location : 95.128.758 - 95.212.441
Synonym name	mouse Etl1 homolog
	ATP-dependent helicase 1
Synonym symbol(s)	KIAA1122, DKFZP762K2015, HEL1, ETL1, ADERM
EC.number	3.6.4.12

DNA

TYPE	functioning gene
STRUCTURE	83.69 kb     24 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

regionally located

in a region rich in breakpoints and deletion mutants in various tumor

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001128429 24 - 5114 NP_001121901 - 1028 - 2000 11031099 variant 1 NM_020159 24 - 5108 NP_064544 - 1026 - 2000 11031099 variant 3 NM_001128430 24 - 5036 NP_001121902 - 1028 - 2000 11031099 variant 2 NM_001254949 16 - 3950 NP_001241878 - 596 - 2000 11031099

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 Skin/Tegument skin         Homo sapiens

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Lymphoid

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal

Text	kidney, liver, spleen, thymus

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	two RNP1 nucleic acid interaction domain, a SNF2 related
	two P loops (ATP/GTP binding)
	a bipartite nuclear targeting sequence
	a nuclear localization signal (NLS)
	two DEAD/H box (Asp-Glu-Ala-Asp/His) ATPs dependent helicase signature
	an helix-turn-helix (HLH) homeo domain
	two leucine zippers

mono polymer

homomer , heteromer

HOMOLOGY

interspecies	ortholog to murine Etl1
	ortholog to yeast Fun30

Homologene

FAMILY	DEAD/H box-containing helicase superfamily
	SNF2/RAD54 helicase family

CATEGORY

DNA associated , RNA associated

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

basic FUNCTION	playing a role in genetic instability development
	DNA-dependent ATPases that are catalytic subunits of chromatin-remodeling complexes
	key factor required for the re-establishment of repressive chromatin
	promotes methylation of H3K9, the establishment of heterochromatin, and faithful chromosome segregation
	potentially ensures that silenced loci, such as pericentric heterochromatin, are correctly perpetuated
	SMARCAD1, like Fun30, plays a direct role in DNA end resection and recombinational DSB repair
	cell cycle-regulated by interaction with the DSB-localized scaffold protein TOPBP1

CELLULAR PROCESS

nucleotide, genomic integrity

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	endogenous SMARCAD1/KIAA1122 binds with TRIM28, a recently highlighted transcriptional regulator in the cancer field
	modulates the interaction of HDAC1 and TRIM28 with heterochromatin
	may function in the DNA damage response since it is phosphorylated at canonical (S/TQ) ATM/ATR phosphorylation sites, as well as at non-canonical sites, in response to genotoxic insults
	interplay between the remodeling activity of SMARCAD1 and histone acetylation by CREBBP sheds light on the function of chromatin and the genome-integrity network

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

ADERM

Susceptibility

Variant & Polymorphism

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed cancer reproductive breast can be a promising target for metastatic breast cancer therapy

ANIMAL & CELL MODELS