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FLASH GENE

Symbol

RUNX1T1

contributors: mct/npt/pgu - updated : 08-01-2016

HGNC name	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)
HGNC id	1535

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

RNA

TRANSCRIPTS	type	messenger

text	inclusion of exon 9a leading to a frameshift and a truncated protein, other transcripts with different 5' region

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_004349 11 splicing 3463 NP_004340 - 577 - 1998 9661669 also called MTG8a lacking exon 1 NM_175634 11 splicing 3217 NP_783552 - 604 - 1998 9661669 also called MTG8b NM_001198632 12 - 7401 NP_001185561 - 577 - 1998 9661669 also called MTG8a-alt or MTG8a-2, or ETO9A lacking exon 1 including exon 9a (inclusion of exon 9a in the mRNA changes the open reading frame which introduces a premature stop codon ) AML1-ETO9a encodes a C-terminally truncated AML1-ETO protein of 575 amino acids and leads to rapid development of leukemia NM_001198626 13 - 7627 NP_001185555 - 604 - 1998 9661669 also called MTG8b-alt or MTG8b-2, or ETO9A including exon 9a (inclusion of exon 9a in the mRNA changes the open reading frame which introduces a premature stop codon ) AML1-ETO9a encodes a C-terminally truncated AML1-ETO protein of 575 amino acids and leads to rapid development of leukemia NM_175636 10 - 3362 NP_783554 - 567 - 1998 9661669 also called MTG8c NM_175635 11 - 3233 NP_783553 - 567 - 1998 9661669 also called MTG8c NM_001198625 15 splicing 7769 NP_001185554 - 577 only in the testis and in leukemia cell lines 1998 9661669 also called MTG8v, or MTG8a exon 1a encoding 27AA in-frame C-terminal truncated protein without MYND domain may contribute to malignant conversion of hematopoietic cells or to the progression of leukemia NM_001198633 11 - 7372 NP_001185562 - 584 - 1998 9661669 NM_001198628 11 - 7284 NP_001185557 - 604 - 1998 9661669 also called MTG8b NM_001198634 11 - 7310 NP_001185563 - 615 - 1998 9661669 NM_001198631 11 - 7483 NP_001185560 - 604 - 1998 9661669 also called MTG8b NM_001198679 12 - 7454 NP_001185608 - 663 - 1998 9661669 NM_001198627 14 - 7687 NP_001185556 - 604 - 1998 9661669 also called MTG8b NM_001198629 12 - 7410 NP_001185558 - 604 - 1998 9661669 also called MTG8b NM_001198630 13 - 7470 NP_001185559 - 604 - 1998 9661669 also called MTG8b

EXPRESSION

Type

widely

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 Cardiovascular heart       highly Endocrine neuroendocrine pituitary     highly   pancreas         Nervous brain       predominantly Homo sapiens Respiratory lung         Skin/Tegument skin

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial secretory glandular endocrine   Muscular striatum skeletal

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal, pregnancy

Text	placenta
	abundant expression in the developing brain
	expressed in distinct patterns in the developing nervous system (Pubmed 20214951)

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a MYND type zinc finger domain interacting with NCOR1 and SIN3A
	three proline/serine/threonine (PST) rich domains
	a alpha helical coiled-coil structure
	four NERVY homology domain (NHR1, NHR2, NHR3, NHR4)
	oligomerization domain playing a major role in targeting RUNX1T1 to the DES region and independently potentiates the TAFH domain-mediated AD1 interaction

HOMOLOGY

interspecies	homolog to Drosophila nervy
	homolog to murine Cbfa2t1h

intraspecies

homolog to cyclin D2

Homologene

FAMILY	ETO family
	CBFA2T family

CATEGORY

transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,mitochondria
	intracellular,nucleus,nucleoplasm,nuclear bodies,nuclear speckles

basic FUNCTION	playing a role in brain development and neuronal differentiation
	can enhance the transcriptional repressor function of ATN1
	induce senescence-like growth arrest independently of replicative stress
	major role for the functional interaction of AML1/RUNX1T1 with AML1 and TCF12 in transcriptional regulation determined by the fusion protein
	may be involved in transcriptional regulation in neural stem cells and may have multiple roles during brain development and in heart development
	can bind both co-repressor molecules and EP300, and may function as a fast-response adaptor protein, inducing transcriptional activation or repression depending on the signaling pathways activated in the cell
	controls proliferation and the neurotoxic effect of microglia by epigenetically regulating CDK4 and LAT2 via its interaction with HDACs
	could be involved in the process through which radial glial cells (RGCs) differentiate into neurons

CELLULAR PROCESS

nucleotide, transcription

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	interacting with the HDAC1, NCOR1 and SIN3A complex with impaired ability of the fusion protein to repress transcription
	interacting with atrophin 1 (enhancing the repressor properties of atrophin 1)
	fusion protein RUNX1/RUNX1T1 up-regulating NTRK1 expression in CD34+ cells
	RUNX1/RUNX1T1 interacts with SP1 (promotes leukemogenesis by blocking cell differentiation through inhibition of SP1 transactivity)
	RUNX1T1 and CBFA2T3, are fused to the DNA-binding domain of AML1, a transcriptional activator crucial for hematopoiesis
	NEUROG2 and ASCL1 are inhibited by CBFA2T2 and CBFA2T3, and less efficiently by RUNX1T1
	PRMT1 interacts with RUNX1-RUNX1T1 to promote its transcriptional activation and progenitor cell proliferative potential
	JMJD1C functions as a coactivator for RUNX1-RUNX1T1 and is required for its transcriptional program
	E3 ubiquitin ligase STUB1 is a negative regulator of both RUNX1 and RUNX1-RUNX1T1

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral   translocation     translocation t(8;21)(q22;q22) forming a chimeric fusion protein with RUNX1 (5' - RUNX1 - RUNX1T1 - 3') in acute myeloid leukemia (AML-M2) tumoral fusion       AML1-ETO9a leads to rapid development of leukemia and results in the substantially earlier onset of AML because blocks myeloid cell differentiation at a more immature stage constitutional   translocation     disruption of RUNX1T1 suggest involvement in human brain and heart development tumoral       gain of function of the RUNX1-RUNX1T1 gene set may be an important factor contributing to the etiology of clear cell renal cell carcinoma

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS