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FLASH GENE

Symbol

HELLS

contributors: mct - updated : 09-01-2019

HGNC name	helicase, lymphoid-specific
HGNC id	4861

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	68.14 kb     22 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Promoter
	Binding site   transcription factor
text structure	the minimal promoter is located between positions -216 and -119 relative to the transcription start site, and contains two putative E2F binding sites

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_018063 22 - 3165 NP_060533 - 838 - 2018 29339483 NM_001289071 23 - 3207 NP_001276000 - 714 - 2018 29339483 NM_001289067 23 - 3301 NP_001275996 - 884 - 2018 29339483 NM_001289075 21 - 2966 NP_001276004 - 432 - 2018 29339483 NM_001289070 20 - 2869 NP_001275999 - 740 - 2018 29339483 NM_001289074 23 - 3082 NP_001276003 - 477 - 2018 29339483 NM_001289069 22 - 3067 NP_001275998 - 806 - 2018 29339483 NM_001289072 20 - 2773 NP_001276001 - 708 - 2018 29339483 NM_001289073 21 - 3098 NP_001276002 - 700 - 2018 29339483 NM_001289068 21 - 3118 NP_001275997 - 822 - 2018 29339483

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 tongue       Reproductive male system testis       Respiratory respiratory tract larynx

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / hematopoietic bone marrow

cells

System Cell Pubmed Species Stage Rna symbol Blood/Hematopoietic thymocyte

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

HOMOLOGY

interspecies

homolog to yeast S cerivisiae YFK8

Homologene

FAMILY	SNF2/RAD54 family
	SNF2 family of chromatin remodeling ATPases

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	extracellular
	intracellular
	intracellular,nucleus,chromatin/chromosome,heterochromosome
	intracellular,nucleus,chromatin/chromosome,centromere

basic FUNCTION	involved with cellular proliferation and may play a role in leukemogenesis
	has a critical and previously unidentified role in epigenetic gene silencing and maintenance of genomic stability during female meiosis
	may serves as a recruiting factor for DNMTs and HDACs to establish transcriptionally repressive chromatin which is perhaps further stabilized by DNA methylation at targeted loci
	represses endogenous CDKN2A expression by recruiting HDAC to establish a repressive chromatin structure at the CDKN2A promoter, which in turn delays cell senescence
	modulator of CpG methylation, crucial for the formation of normal heterochromatin and normal histone methylation
	controls CpG methylation at selected HOX genes
	essential for normal levels of DNA methylation in the mammalian genome
	important for de novo DNA methylation events that accompany the establishment and differentiation of embryonic lineage cells
	promotes binding of DNA methyltransferases and the EHMT2 complex to specific loci and facilitates developmentally programmed DNA methylation and stable gene silencing during lineage commitment and differentiation
	major epigenetic regulator that is essential for DNA methylation and histone acetylation at repetitive elements
	HELLS modulates CG methylation at all classes of repeat elements and is critical for repression of a subset of repeat elements
	exerts epigenetic regulation at key regulators of neural stem cell fate ensuring adequate neural stem/progenitor cells (NSPCs) self-renewal and maintenance during development
	is a chromatin remodeling factor that regulates DNA methylation and chromatin function in mammals
	ZBTB24, HELLS, CDCA7 gene products are not involved in establishing or maintaining subtelomeric methylation
	SWI2/SNF2 chromatin remodeling enzyme
	is a key epigenetic driver of hepatocellular carcinoma

CELLULAR PROCESS

nucleotide, repair

PHYSIOLOGICAL PROCESS

text

putative

PATHWAY

metabolism

signaling

a component

HELLS-CDCA7 complex possesses nucleosome remodeling activity

INTERACTION

DNA

RNA

small molecule

protein	cooperates with the DNMTs DNMT1 and DNMT3B and with the histone deacetylases (HDACs) HDAC1 and HDAC2 to silence transcription
	E2F1 physically interacts with the HELLS promoter by binding to each of the two putative binding sites and transactivates the HELLS promoter
	HELLS interacts with E2F3A and cooperates with its oncogenic functions
	ability of HELLS to bind ATP and the cellular concentration of DNMT3B are critical for cell-autonomous de novo DNA methylation in somatic cells
	assists gene repression upon binding to the POU5F1 promoter region

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

ICF4

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --over   delays cell senescence by silencing CDKN2A in fibroblasts tumoral     --over   in hepatocellular carcinoma

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS