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FLASH GENE
Symbol PAX7 contributors: mct/npt - updated : 21-03-2016
HGNC name paired box 7
HGNC id 8621
Corresponding disease
ARMS alveolar rhabdomyosarcoma
Location 1p36.13      Physical location : 18.957.499 - 19.075.359
Synonym name
  • PAX7 transcriptional factor
  • paired box gene 7
  • paired box homeotic gene 7
  • Synonym symbol(s) HUP1, PAX7B, FLJ37460, RMS2
    DNA
    TYPE functioning gene
    STRUCTURE 117.86 kb     9 Exon(s)
    Genomic sequence alignment details
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    Binding site   transcription factor
    text structure
  • several consensus sites for common transcriptional regulators including Oct-1, NF1, AP2, AP4, CREB, Sp1, Nkx2.5 and MyoD
  • lower transcriptional activity than that of PAX3 (Moller 2007)
  • promoter was upregulated in myoblasts expressing cyclin D3
  • MAPPING cloned Y linked N status confirmed
    Map pter - D1S2620 - D1S482 - D1S3248 - D1S2838 - D1S234 - D1S1417 - D1S168 - TSG1C - D1S1348 - D1S2787 - D1S1255 - D1S470 - D1S449 - D1S247 - cen
    Authors Steenman (00)
    Physical map
    PADI1 1p36.13 peptidyl arginine deiminase, type I PADI3 1p36.13 peptidyl arginine deiminase, type III PADI4 1p36.13 peptidyl arginine deiminase, type IV LOC391011 1 similar to Peptidyl arginine deiminase, egg and embryo abundant TD-60 1p36.13 RCC1-like FLJ10521 1p36.13 hypothetical protein FLJ10521 LOC81569 1p36.2-p35 actin like protein MGC15730 1p36.13 hypothetical protein MGC15730 FLJ38753 1p36.13 hypothetical protein FLJ38753 LOC391012 1 similar to Putative dynein light chain protein DJ8B22.1 PAX7 1p36.2-p36.12 paired box gene 7 TAS1R2 1p36.13 taste receptor, type 1, member 2 ALDH4A1 1p36 aldehyde dehydrogenase 4 family, member A1 RBAF600 1p36.13 retinoblastoma-associated factor 600 KIAA0090 1p36.13 retinoblastoma-associated factor 600 C1orf33 1p36.13 chromosome 1 open reading frame 33 AFAR3  aflatoxin B1 aldehyde reductase 3 AKR7A3 1p35.1-p36.23 aldo-keto reductase family 7, member A3 (aflatoxin aldehyde reductase) AKR7A2 1p36.1-p35 aldo-keto reductase family 7, member A2 (aflatoxin aldehyde reductase) FLJ20320 CAPZB 1p36.1 capping protein (actin filament) muscle Z-line, beta LOC388600 1 similar to protein of fungal metazoan origin like (11.1 kD) (2C514) NBL1 1p36.13-p36.11 neuroblastoma, suppression of tumorigenicity 1 HTR6 1p36-p35 5-hydroxytryptamine (serotonin) receptor 6 LOC255104 1p36.13 hypothetical protein LOC255104 FLJ20225 1p36.13 hypothetical protein FLJ20225 LOC254897 1p36.13 similar to OSJNBa0043A12.32
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    8 splicing 2272 56.7 520 myocyte Schafer (1994)
    also called variant 1
    8 splicing 2265 56.5 518 - Schafer (1994)
  • also called variant 2
  • variant 2 lacks the 2-amino acid insertion present in exon 4 of variant 1
  • 9 - 6053 - 505 - Schafer (1994)
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatum   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Muscularmyocyte
    Muscularsatellite 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)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein 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