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FLASH GENE

Symbol

AFF4

contributors: mct - updated : 21-12-2015

HGNC name	AF4/FMR2 family, member 4
HGNC id	17869

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	5q31.1      Physical location : 132.211.071 - 132.299.354
Synonym name	ALL1 fused gene from 5q31
	AF-4 protein related sequence
Synonym symbol(s)	AF4L, AF5Q31, MCEF

DNA

TYPE	functioning gene
SPECIAL FEATURE
text	in the interleukin growth hormone cluster
STRUCTURE	88.28 kb     21 Exon(s)

MAPPING

cloned

Y

linked

N

status

confirmed

Map	cen - AFF4 - GDF9 - SEPT8 - KIF3A - IL4 - IL13 - RAD50 - IL5 - qter
Authors	Taki (99)

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_014423 21 - 9580 - 1163 - 2002 12065898

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 Digestive liver         Lymphoid/Immune spleen         Nervous brain         Reproductive male system prostate       Respiratory lung

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / Hematopoietic bone marrow       Muscular striatum skeletal

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal

Text

heart

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	N-terminal homology domain is a region of homology shared by the four AFF members , and intrinsically disordered N-terminal region that interacts with other super-elongation complex subunits
	seven nuclear localization sequences (NLS)
	and a C-terminal homology domain (CHD) that is conserved among AF4/FMR2 family proteins, and AFF4-CHD mediates the formation of an AFF4 homodimer or an AFF1-AFF4 heterodimer

HOMOLOGY

intraspecies

homolog to AF-4 protein

Homologene

FAMILY

AF4/FMR2 family

CATEGORY

transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,mitochondria
	intracellular,nucleus,nucleoplasm,nuclear bodies,nuclear speckles
	intracellular,nucleus,nucleolus
text	localize to nuclear speckles

basic FUNCTION	transcription from RNA polymerase II promoter
	involved in acute lymphoblastic leukemia
	able to bind RNA, having a high apparent affinity for the G-quadruplex structure
	possible functional redundancy among the AFF family members in the regulation of splicing and transcription
	functional redundancy for AFF2/AFF3/AFF4 proteins during brain development
	both AFF1 and AFF4 regulate gene transcription through elongation and chromatin remodeling
	AFF1 and AFF4 differentially regulate the osteogenic differentiation of human MSCs

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

interact with the positive transcription elongation factor b (CCNT1)

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral   translocation     between the Mixed Lineage Leukemia (MLL) and AF4 Family (AFF) member genes, are implicated in leukemia constitutional     --other   ectopic expression, repressed HIV-1 LTR-directed RNA Polymerase II transcription, at the level of Tat-transactivation

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

Aff4/Af5q31-null mice display azoospermia as their only phenotype, demonstrating the essential role of this protein in Sertoli cells