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FLASH GENE

Symbol

AFF1

contributors: mct - updated : 17-06-2020

HGNC name	AF4/FMR2 family, member 1
HGNC id	7135

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

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 Lymphoid/Immune lymph node         Homo sapiens Nervous brain         Reproductive female system placenta

cells

System Cell Pubmed Species Stage Rna symbol Lymphoid/Immune B cell Lymphoid/Immune lymphocyte Homo sapiens Nervous Purkinje cell

cell lineage
cell lines
fluid/secretion	blood

at STAGE

physiological period

fetal, pregnancy

Text	highly in placenta and fetal brain

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	N-terminal homology domain is a region of homology shared by the four AFF members
	proline and serine-rich domains
	C-terminus (containing the NLSII/NoLS sequence) co-localizes with fibrillarin in the nucleolus

HOMOLOGY

intraspecies

homolog to FMR2 ,LAF4,highly

Homologene

FAMILY

(AF4/FMR2) family of proteins

CATEGORY

transcription factor , protooncogene

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus

basic FUNCTION	DNA-binding capacity and transcription transactivation potential
	potential role for AFF1/AF4 in lymphopoiesis
	both AFF1 and AFF4 regulate gene transcription through elongation and chromatin remodeling
	AFF1 and AFF4 differentially regulate the osteogenic differentiation of human MSCs
	central scaffolding protein of super elongation complex (SEC), regulating gene transcription

CELLULAR PROCESS

nucleotide, transcription

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

AFF4-CHD mediates the formation of an AFF4 homodimer or an AFF1-AFF4 heterodimer

INTERACTION

DNA

RNA

small molecule

protein	interacting with MLL in MLL/AFF1 fusion gene (regulating CDKN1B)
	interact with the positive transcription elongation factor b (CCNT1)
	FLT3-mediated inhibition of hematopoiesis in KMT2A-AFF1-expressing hESCs, which is associated with large transcriptional changes and downregulation of genes involved in hematopoietic system development and function
	TBP loading by AFF1 through TAF1A, TAF1B, TAF1C is the major rate-limiting step in MLL fusion-dependent transcription
	AFF1 regulates the expression of DKK1 via binding to its promoter region
	mechanistically, AFF1 binds to the promoter region of TGM2 gene and regulates its transcription, and AFF1 inhibits adipogenic differentiation by regulating the transcription of TGM2

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral fusion       fusion partner with MLL in a patient affected by acute lymphoblastic leukemia

Susceptibility

to systemic lupus eyrthematosus (SLE)

Variant & Polymorphism other	association of a variant in AFF1 at 4q21 with SLE susceptibility systemic lupus eyrthematosus

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

point mutation in Aff1/Af4 causes a dominant form of cerebellar ataxia in mouse