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FLASH GENE

Symbol

MYSM1

contributors: mct - updated : 25-03-2015

HGNC name	myb-like, SWIRM and MPN domains 1
HGNC id	29401

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	BMFS4 bone marrow failure syndrome 4
Location	1p32.1      Physical location : 59.125.589 - 59.165.747
Synonym symbol(s)	DKFZp779J1554, DKFZp779J1721, KIAA1915, 2ADUB, 2A-DUB, BMFS4
EC.number	3.1.2.15

DNA

TYPE	functioning gene
STRUCTURE	45.34 kb     14 Exon(s)

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_001085487 20 - 7768 NP_001078956 - 828 - 2007 17707232

EXPRESSION

Type

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 thymus         Reproductive male system prostate

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / hematopoietic bone marrow       Muscular         Nervous peripherous

cell lineage
cell lines
fluid/secretion	blood

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

one Myb-like domain

conjugated

MetalloP

HOMOLOGY

Homologene

FAMILY

CATEGORY

regulatory

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytosolic
	intracellular,nucleus,nucleoplasm
	intracellular,nucleus,nucleolus
text	normally localizes to the nucleus, where it can interact with chromatin and regulate gene expression, through deubiquitination of histone H2A and non-catalytic contacts with other transcriptional regulators

basic FUNCTION	essential role for MYSM1 in gene transcription during early B cell development
	critical role of histone H2A-deubiquitinase MYSM1 in hematopoiesis and lymphocyte differentiation
	histone H2A deubiquitinase, with important role for NK cell maturation
	required for NK cell maturation but not for NK lineage specification and commitment
	MYSM1 functions potentially downstream of IL15 during NK cell development
	its activity in promoting the transcription of ID2 is essential for the development of mature NK cells (
	has an important and intrinsic role in NK cell development through an epigenetic control of ID2 transcription, which is critical for NK cell development
	is essential for proper immunohematopoietic development
	is an epigenetic regulator essential for the maintenance of hematopoietic stem cell (HSC) function, hematopoietic progenitor survival, and lymphocyte development
	is a chromatin-binding histone deubiquitinase
	has an essential role in B cell lineage specification but is dispensable at later stages of development
	important role of MYSM1 in maintaining HSC quiescence and survival
	MYSM1 is essential for macrophage survival and plays an important role in macrophage polarization
	is a transcriptional regulator essential for hematopoietic stem cells (HSCs) function and hematopoiesis
	critical role of MYSM1 DUB catalytic activity in hematopoiesis, leukocyte development, and other aspects of mammalian physiology

CELLULAR PROCESS

nucleotide, transcription, regulation

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

binding

RNA

small molecule

protein	directly associates with the GFI1 enhancer element and promotes its transcription through GATA2 and RUNX1 transactivation
	plays a critical role in early B-cell commitment and development by de-repressing the transcription of EBF1
	MYSM1 protein is associated with the ID2 locus
	MYSM1 and its interaction with NFIL3 are critical for the stable association of NFIL3 at the ID2 locus during NK cell development
	is a critical negative regulator of TP53 transcriptional programs in hematopoiesis, and its repression of BBC3/PUMA expression is essential for multipotent progenitor (MPP) survival, and partly contributes to maintaining HSC function

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

BMFS4

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional germinal mutation       in a family with transient transfusion-dependent anemia, mild thrombocytopenia, and low NK- and B-cell counts

Susceptibility

Variant & Polymorphism

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed osteoarticular bone ostéoporosis may represent a potential therapeutic target for controlling MSC lineage differentiation, and possibly for the treatment of metabolic bone diseases such as osteoporosis

ANIMAL & CELL MODELS

	blockage in the maturation of NK cells during NK cell development in Mysm1-/- mice
	Mysm1-/- mice had a lower bone mass both in long bone and calvaria compared with their control counterpart