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FLASH GENE

Symbol

PAX7

contributors: mct/npt - updated : 21-03-2016

HGNC name	paired box 7
HGNC id	8621

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_002584 8 splicing 2272 NP_002575 56.7 520 myocyte Schafer (1994) also called variant 1 NM_013945 8 splicing 2265 NP_039236 56.5 518 - Schafer (1994) also called variant 2 variant 2 lacks the 2-amino acid insertion present in exon 4 of variant 1 NM_001135254 9 - 6053 NP_001128726 - 505 - Schafer (1994)

EXPRESSION

Type

expressed in	(based on citations)
organ(s)

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular striatum

cells

System Cell Pubmed Species Stage Rna symbol Muscular myocyte Muscular satellite cell

cell lineage	resident muscle progenitor cells
cell lines
fluid/secretion

at STAGE

physiological period

embryo

Text	neural tube, dermatomyome, skeletal muscle (satellite cells derived myoblasts)

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a paired box domain
	an octapeptide
	a paired-type helix-turn-helix (homeo) domain

mono polymer

heteromer , dimer

HOMOLOGY

interspecies

homolog to murine Pax7 (97.2pc)

intraspecies

homolog to PAX3

Homologene

FAMILY

paired homeobox family

CATEGORY

transcription factor , tumor suppressor

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,nucleus
text	Satellite stem cells express PAX7 6)

basic FUNCTION	playing a role in pattern formation during embryogenesis
	required for satellite cells to generate committed myogenic progenitors
	regulating expression of MYF5 in myoblasts derived from satellite cells
	inducing chromatin modification that stimulate transcriptional activation of target gene to regulate entry into the myogenic developmental programme
	key regulator of skeletal muscle stem cells and is required along with Pax3 to generate skeletal muscle precursors (Kumar 2009)
	acts to block premature differentiation of quiescent satellite cells by inducing the expression of ID2 and ID3, which in turn may act to block either the precocious induction of myogenic basic (b)HLH proteins, the activity of myogenic bHLH proteins, or both (Kumar 2009)
	with PAX3, function to maintain expression of myogenic regulatory factors, and promote population expansion, but are also required for myogenic differentiation to proceed (Collins 2009)
	having a key role in a non-satellite cell population during postnatal muscle growth (Mitchell 2010)
	both PAX3 and PAX7 transcripts are required for commitment of cells to the myogenic lineage, with each transcript having a distinct role
	has a higher binding affinity to the homeodomain-binding motif relative to PAX3, suggesting that intrinsic differences in DNA binding contribute to the observed functional difference between PAX3 and PAX7 binding in myogenesis
	acts by remodeling chromatin and allowing TBX19 binding to a new subset of enhancers for activation of melanotrope-specific genes
	its expression provides a unique tissue identity to the pituitary intermediate lobe that alters TBX19-driven differentiation through pioneer and classical transcription factor activities
	is essential for regulating the expansion and differentiation of satellite cells during both neonatal and adult myogenesis
	plays a critical role in regulating the function of satellite cells, but was entirely dispensable for normal satellite cell function after a critical juvenile period
	responds to NFKB potentially by impairing the regenerative capacity of myogenic cells in the muscle microenvironment to drive muscle wasting in cancer

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

development

text	playing critical roles during fetal development and cancer growth
	is required for neural crest formation

PATHWAY

metabolism

signaling

a component	with PAX3 (heterodimer)
	associating with the Wdr5-Ash2L-MLL2 histone methyltransferase complex

INTERACTION

DNA

RNA

small molecule

protein	with FKHR and MYCN in rhabdomyosarcoma cell line (concomitant amplification)
	interacting with DAXX
	interdependent regulatory loops involving PAX3 and PAX7 in the dorsal mesencephalic vesicle modulate MEIS2 expression
	role of NOTCH1 signaling in actively promoting the self-renewal of muscle stem cells through direct regulation of PAX7
	direct regulatory connection between the neural plate border genes, PAX7 and MSX1/2, and FOXD3, suggesting it is an immediate downstream target
	MYB is identified as a novel regulator of PAX7 in early neural crest development
	MYF5 is a direct target gene of PAX7, and MYF5 transcription varies directly with PAX7 levels
	supports myoblast proliferation by reducing the levels of MYOD1, primarily by promoting its degradation in embryonal rhabdomyosarcoma cells (ERMS)
	in ERMS cells, AGER upregulates myogenin which upregulates MYOD1 and downregulates PAX7, with consequent inhibition of proliferation and stimulation of differentiation
	TRIM27 works as an E3 ligase in PAX7-induced degradation of MYOD1
	PLAGL1 interacts likely directly with PAX7, which can regulate GPR39 expression by activating PLAGL1
	GPR39 phosphorylating CAMK2A, CAMK2B contributes to the distinct roles of PAX3 and PAX7 in myogenic progression

cell & other

REGULATION

Other

regulated by SUMOylation

ASSOCIATED DISORDERS

corresponding disease(s)

ARMS

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral fusion       fused with FOX01/FKHR in t(1;13) (p36;q14) or (p36;q22) in rhabdomyosarcoma (RMS) tumoral         amplified in squamous cell lung carcinoma constitutional   deletion     results in cell-cycle arrest and precocious differentiation constitutional     --low   PAX7-deficient progenitors are incapable of expansion and undergo precocious differentiation 6)

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS