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FLASH GENE

Symbol

BRPF1

contributors: mct/npt - updated : 01-03-2017

HGNC name	bromodomain and PHD finger containing, 1
HGNC id	14255

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	IDDDFP intellectual developmental disorder with dysmorphic facies and ptosis
Location	3p25.3      Physical location : 9.773.433 - 9.789.697
Synonym name	peregrin
	bromodomain-containing protein, 140kD
Synonym symbol(s)	BR140

DNA

TYPE	functioning gene
STRUCTURE	16.29 kb     14 Exon(s)

10 Kb 5' upstream gene genomic sequence study

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_001003694 14 - 4728 NP_001003694 - 1220 - 2014 25281266 NM_004634 14 - 4710 NP_004625 137 1214 - 2014 25281266 NM_001319049 13 - 4459 NP_001305978 - 1119 - 2014 25281266 NM_001319050 14 - 4741 NP_001305979 - 1213 - 2014 25281266

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 Lymphoid/Immune lymph node       highly Reproductive female system uterus cervix   highly   male system testis     highly Skin/Tegument skin       highly

cells

System Cell Pubmed Species Stage Rna symbol Reproductive spermatogonia

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	N-terminal region interacts with the acetyltransferases
	a bromodomain six zinc finger motifs with a unique assembly of zinc fingers, termed a PZP domain
	a leucine zipper domain
	a motif called PZPM (PHD/Zn-knuckle/PHD Motif) ,
	two PHD fingers, for potential interactions with histones
	an enhancer of polycomb (EPc) homology domain in the middle part binds to ING5 and MEAF6
	a PWWP domain tha is a H3K36me3 binding module , and is absolutely essential for BRPF1 function
	four nucleosome-binding domains
	an unstructured 18-AA region at the C-terminal end of the catalytic domain is required for BRPF1 interaction (Ullah 2008)

HOMOLOGY

intraspecies	homolog to AF10
	homolog to AF17
	homolog to MLLT6

Homologene

FAMILY

CATEGORY

DNA associated , transcription factor

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,cytosolic
	intracellular,nucleus,nucleoplasm
	intracellular,nucleus,chromatin/chromosome

basic FUNCTION	functioning as a transcriptional co-activator
	may be a part of the general transcriptional machinery
	recruits KAT6A to distinct sites of active chromatin and remains at chromosomes during mitosis, mediated by direct histone binding of its bromodomain, which has a preference for acetylated histones
	acts by multiple mechanisms to mediate KAT6A-dependent histone acetylation and to mark HOX genes for maintained expression throughout vertebrate development
	enhances the transcriptional potential of KAT6A and a leukemic KAT6A-NCOA2 fusion protein (BRPF proteins play a key role in assembling and activating KAT6A/KAT6B acetyltransferase complexes)
	play a key role in assembling and activating KAT6A/KAT6B acetyltransferase complexes
	contributes to transcriptional memory throughout mitosis
	scaffold component in a couple of histone acetyltransferase (HATs) complexes
	important role in regulating forebrain development, suggesting that it acts as both an activator and a silencer of gene expression
	plays a scaffolding role in transcription
	essential role of the multivalent chromatin regulator BRPF1 in definitive hematopoiesis
	is a multivalent chromatin regulator possessing three histone-binding domains, one non-specific DNA-binding module, and several motifs for interacting with and activating three lysine acetyltransferases

CELLULAR PROCESS

nucleotide, transcription, regulation

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component	MYST3 and the related factor MYST4 form tetrameric complexes with ING5 (inhibitor of growth 5), MEAF6 (Esa1-associated factor 6 ortholog), and the bromodomain-PHD finger protein BRPF1, -2, or -3 (Ullah 2009)
	subunit of the KAT6A/KAT6A H3 HAT complex
	core subunit of the MOZ histone acetyltransferase (HAT) complex, critical for normal developmental programs and implicated in acute leukemias

INTERACTION

DNA

RNA

small molecule	metal binding,
	Zn2+

protein	functions in association with the histone acetyltransferase KAT6A, an interaction mediated by the N-terminal domain of BRPF1, and promotes histone acetylation
	BRPF1, BRD1, BRPF3 bridge the association of KAT6A and KAT6B with ING5 and MEAF6
	ZFAT-regulated BRPF1 expression was likely important for T-cell survival

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

IDDDFP

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional       loss of function deregulates neuronal migration, cell cycle progression and transcriptional control, thereby causing abnormal morphogenesis of the hippocampus

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

ablation of the mouse Brpf1 gene causes embryonic lethality at E9.5