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FLASH GENE

Symbol

ETS1

contributors: mct - updated : 01-09-2009

HGNC name	v-ets erythroblastosis virus E26 oncogene homolog 1 (avian)
HGNC id	3488

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	DEL11QD chromosome 11q distal deletion syndrome HLHS2 hypoplastic left heart syndrome 2
Location	11q24.3      Physical location : 128.328.655 - 128.457.453
Synonym name	ets protein
	protein C-ets-1
Synonym symbol(s)	ETS-1, EWSR2, FLJ10768, p54

DNA

TYPE	functioning gene
STRUCTURE	128.80 kb     10 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

Y

status

confirmed

Physical map

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_005238 8 - 5228 NP_005229 51 441 - 2009 19377509 also called ETS1 variant 2/isoform 2 NM_001162422 4 - 4594 NP_001155894 27 225 highly expressed in fetal lung, expressed in breast adenocarcinomas 2009 19377509 also called Ets-1 p27 variant 3/isoform 3 variant resulting from the alternative splicing of exons III to VI lacks the threonine-38 AA, the Pointed domain and the transactivation domain, all of which are required for the transactivation of Ets-1 target genes acts both at a transcriptional and a subcellular localization variant 2 NM_001143820 10 - 5143 NP_001137292 - 485 - 2009 19377509 also called variant 1/isoform 1

EXPRESSION

Type

widely

constitutive of

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 Lymphoid/Immune lymph node       highly   thymus       moderately Nervous nerve       moderately Reproductive female system breast mammary gland   moderately

tissue

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

cell lineage
cell lines
fluid/secretion	moderately in blood

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a N terminal A domain involved in transactivation
	an helix turn helix domain
	a C terminus with an ETS DNA-binding domain
	a PNT domain

conjugated

PhosphoP , Other

mono polymer

complex

HOMOLOGY

interspecies	homolog to rattus Ets1 (98.9 pc)
	homolog to murine Ets1 (97.3 pc)

Homologene

FAMILY

ETS family

CATEGORY

transcription factor , protooncogene

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus

basic FUNCTION	being a transcription regulator involved in maintenance of the normal pool of resting T and B lineage cells
	regulates the expression of genes encoding enzymes involved in the degradation of the extracellular matrix, such as MMP1, MMP3, MMP7, and MMP9
	playing an important role in heart development and should provide important insights into some of the most common forms of congenital heart disease

CELLULAR PROCESS	cell life, differentiation
	cell life, proliferation/growth
	nucleotide, transcription, regulation

PHYSIOLOGICAL PROCESS

text	negative regulation of cell proliferation
	positive regulation of erythrocyte differentiation

PATHWAY

metabolism

signaling

a component	forming a ternary complex with PAX proteins
	sumoylated on Lys-15 and Lys-227, preferentially by SUMO2
	ubiquitinated

INTERACTION

DNA	binding to sequence-specific

RNA

small molecule

protein	PAX2, PAX3, PAX5 (amino subterminal domain) potentially important for cellular differentiation
	coregulating osteopontin with PEBP2 alpha
	cooperating with cFos and cJUN SP100 for transcriptional activation
	activating CDKN2A
	binding to DAXX
	interacting with UBE2I
	interacting with ERBB2 and MMP1 (enhancing the ERBB2-induced expression of MMP1)
	TAL1 interacts with RUNX1 and ETS1, and these transcription factors are critically required for TAL1 binding to genes that modulate T-cell differentiation
	interaction of a C-terminal fragment of DAXX with an N-terminal fragment of the sumoylated ETS1 transcription factor mediated by SIM-C

cell & other

REGULATION

Other

ID1 inhibits CDKN2A activation by ETS1 (and ETS2)

ASSOCIATED DISORDERS

corresponding disease(s)

HLHS2 , DEL11QD

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral fusion translocation     translocated t(11;19) (q23;p13) in ALL, fused with EWSR1 tumoral     --over   in both primary breast cancers and breast cancer cell lines, in progression and with metastasis

Susceptibility

systemic lupus erythematous

Variant & Polymorphism SNP	3' UTR polymorphism associated with systemic erythematous (SLE), allele 1 with discoid lesions, allele 7 with vasculitis

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed cancer reproductive breast target in breast cancer therapy, in cooperation with ERBB2 and MMP1

ANIMAL & CELL MODELS

homozygous Ets1 deletion mice had large membranous ventricular septal defects, abnormal-appearing left ventricular morphology, characterized by a bifid cardiac apex, and non-apex-forming left ventricle