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PAX7 Gene

protein-coding   GIFtS: 65

GC01P018830
paired box 7
(Previous name: paired box gene 7 )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
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Aliases
FLJ37460 2
HUP1 2, 3
Hup1 1
OTTHUMP00000002534 2
PAX7B 2
Descriptions
PAX7 transcriptional factor 2
paired box 7 2
paired box gene 7 1, 2
paired box homeotic gene 7 2
paired domain gene 7 2
External Ids
HGNC: 86211
Entrez Gene: 50812
UniProtKB: P237593
Ensembl: ENSG000000097097
Search outside databases for aliases for PAX7 gene

Previous GC identifers: GC01P018624 GC01P018000 GC01P018390 GC01P018702

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

EntrezGene summary for PAX7:
This gene is a member of the paired box (PAX) family of transcription factors. Members of this gene
family typically contain a paired box domain, an octapeptide, and a paired-type homeodomain. These
genes play critical roles during fetal development and cancer growth. The specific function of the
paired box 7 gene is unknown but speculated to involve tumor suppression since fusion of this gene
with a forkhead domain family member has been associated with alveolar rhabdomyosarcoma. Three
transcript variants encoding different isoforms have been found for this gene. [provided by
RefSeq]

UniProtKB/Swiss-Prot: PAX7_HUMAN, P23759
Function: Probable transcription factor. May have a role in myogenesis

Gene Wiki entry for PAX7

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the PAX7 gene  

Entrez Gene cytogenetic band: 1p36.13   Ensembl cytogenetic band:  1p36.13   HGNC cytogenetic band: 1p36.13

PAX7 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P018830:     (about GC identifiers)

Start:
18,830,087 bp from pter
End:
18,944,010 bp from pter
Size:
113,924 bases
Orientation:
plus strand
RefSeq DNA sequence:
NC_000001.9  NT_004610.18  
(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
About This Section

UniProtKB/Swiss-Prot: PAX7_HUMAN, P23759 (See protein sequence)
Recommended Name: Paired box protein Pax-7  
Size: 520 amino acids; 56896 Da
Subunit: Can bind to DNA as a heterodimer with PAX3. Interacts with DAXX
Subcellular location: Nucleus
Alternative splicing: 2 isoforms:  P23759-1   P23759-2   

Post-translational modifications:

  • View phosphorylation sites using PhosphoSite2


  • REFSEQ proteins (3 alternative transcripts): 
    NP_001128726.1  NP_002575.1  NP_039236.1  


    ENSEMBL proteins: 
    ENSP00000364524 ENSP00000383502 


    Human Recombinant Proteins 
    Browse Drug Discovery Central at Invitrogen for human recombinant proteins
    Browse Purified and Recombinant Proteins at Millipore
    Browse Human Recombinant Proteins at Sigma-Aldrich  
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Recombinant Proteins from Abcam (PAX7)
    Browse Abnova for Human Recombinant Proteins
                  OriGene Purified Recombinant Human Protein: PAX7 

    1 Gene Ontology (GO) cellular component term (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634 nucleus IEA--
    About this table

    Antibodies for PAX7: 
    Browse Antibodies Central at Invitrogen
    Millipore Mono- and Polyclonal Antibodies for the study of PAX7
    Sigma-Aldrich Antibodies for PAX7
    R&D Systems Antibodies for PAX7
    Antibodies from Abcam (PAX7), each with their AbpromiseSM
    Monoclonal and Polyclonal Antibodies from Abnova (PAX7)
    Novus Biologicals Antibodies for PAX7

    Assays for PAX7: 
    Browse Invitrogen for biochemical assays
    Browse Kits and Assays available from Millipore
    Browse R&D Systems for biochemical assays
    Browse biochemical assays available from Enzo Life Sciences

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    5 InterPro domains/families:
     IPR011991 Wing_hlx_DNA_bd
     IPR001356 Homeobox
     IPR017970 Homeobox_CS
     IPR001523 Paired_box_N
     IPR012287 Homeodomain-rel


       GeneDecks  PAX7 for the domains selected above  
    About GeneDecksing

    Graphical View of Domain Structure for InterPro Entry P23759

    ProtoNet protein and cluster: P23759

    1 Blocks protein family: IPB001523 Paired box protein

    UniProtKB/Swiss-Prot: PAX7_HUMAN, P23759
    Similarity: Belongs to the paired homeobox family
    Similarity: Contains 1 homeobox DNA-binding domain
    Similarity: Contains 1 paired domain

    (According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
    RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (PAX7)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (PAX7)
                   OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 3): NM_001135254

                  Applied Biosystems Silencer® siRNAs for PAX7

                  Sigma-Aldrich siRNA for PAX7  
                         Sigma-Aldrich shRNA Panels and shRNA for PAX7  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Clones:Browse Clone Ranger at Invitrogen for clones
    Browse Clones for the Expression of Recombinant Proteins Available from Millipore
                   OriGene GFP tagged cDNA clones in CMV expression vector (see all 3): NM_001135254
                                     Myc/DDK tagged cDNA clones in CMV expression vector (see all 3): NM_001135254
                                     untagged cDNA clones in CMV expression vector (see all 3): NM_001135254 

    Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
                  OriGene genome-wide validated SYBR primer pairs: NM_002584

    UniProtKB/Swiss-Prot: PAX7_HUMAN, P23759
    Function: Probable transcription factor. May have a role in myogenesis

    Genatlas biochemistry entry for PAX7:
    paired box (DNA binding) containing protein 7 (HuP1),with homeo domain,expressed in normal and
    neoplastic myocytes

    15 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Pax7):

    cellularcraniofacialdigestive/alimentaryembryogenesisendocrine/exocrine gland
    growth/sizelethality-postnatallethality-prenatal/perinatallife span-post-weaning/agingmuscle
    nervous systemnormalrespiratory systemskeletontumorigenesis

    3 Gene Ontology (GO) molecular function terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003700 transcription factor activity TAS9339373
    GO:0005515 protein binding IPI17474147
    GO:0043565 sequence-specific DNA binding IEA--
    About this table

    (Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
    Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section


     Gene Network CentralTM Interacting Genes and Proteins Network for  PAX7 


    5/19 Interacting proteins for PAX7 (ENSP000003645243 P237591) via UniProtKB, MINT, and/or STRING (see all 19 )
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CRKP461081EBI-1042757, EBI-886
    FYNP062411EBI-1042757, EBI-515315
    NCK1P163331EBI-1042757, EBI-389883
    SRCP129311EBI-1042757, EBI-621482
    FOXO1ENSP000003688803STRING (score=.993)
    About this table

    4 Gene Ontology (GO) biological process terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006355 regulation of transcription, DNA-dependent IEA--
    GO:0006916 anti-apoptosis TAS10871843
    GO:0007275 multicellular organismal development IEA--
    GO:0009653 anatomical structure morphogenesis TAS9339373
    About this table
    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

    Browse drugs & compounds from Enzo Life Sciences
    Browse Small Molecules at Sigma-Aldrich

    Browse Tocris compounds for PAX7
    1 Novoseek chemical compound relationship for PAX7 gene
    Compound   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    oligonucleotide 0.00 1 10063718 (1)
    About this table


    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Invitrogen, Millipore, and/or Abnova,
    siRNAs from Applied Biosystems, Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene,
    Tagged/untagged cDNA clones from OriGene,
    Expression Assays from Applied Biosystems)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (PAX7)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (PAX7)
                   OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 3): NM_001135254

                  Sigma-Aldrich siRNA for PAX7  
                         Sigma-Aldrich shRNA Panels and shRNA for PAX7  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Applied Biosystems Silencer® siRNAs: 

    NM_001135254  NM_002584  NM_013945  

    REFSEQ mRNAs for PAX7 gene (3 alternative transcripts): 

    NM_001135254.1   NM_002584.2   NM_013945.2   

    Applied Biosystems TaqMan ® Gene Expression Assays: 

    NM_001135254  NM_002584  NM_013945  

                   OriGene GFP tagged cDNA clones in CMV expression vector (see all 3): NM_001135254
                                     Myc/DDK tagged cDNA clones in CMV expression vector (see all 3): NM_001135254
                                     untagged cDNA clones in CMV expression vector (see all 3): NM_001135254 

    Additional cDNA sequence: 

    AK094779.1 AY578141.1 BC121165.2 BC121166.2 DQ322591.1 X96743.1 Z35141.1 

    3 DOTS entries:

    DT.107986  DT.75105313  DT.121400895 

    4 AceView cDNA sequences:

    NM_002584 X96743 Z35141 NM_013945 

    highest scoring ESTs for PAX7:

    X96743 Z35141 NM_002584 NM_013945 BC121165 BC121166 CN267767 DB474828 DQ322591 BF989193 

    Unigene Cluster for PAX7:

    Paired box 7
    Hs.113253  [show with all ESTs]
    Unigene Representative Sequence: NM_001135254


    GeneLoc Exon Structure

    2 Ensembl transcripts including schematic representations:
    ENST00000375375  ENST00000400661  
    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Expression Assays from Applied Biosystems )
    About This Section

    PAX7 expression in normal and diseased human tissues

     Applied Biosystems TaqMan ® Gene Expression Assays for PAX7

    1 / 2 / 3

    4 probe-sets matching PAX7 gene


    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank

    32474_at2, 3 U95-A 1 1.00 1.00 1.00 1.00 X96744 0.20 1.00 0.72 1

    208060_at2, 3 U133-A 1 1.00 1.00 -- -- NM_002584 0.60 1.00 0.82 1

    208060_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    1556638_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    About this table
    Data from (Publications) and GNF BioGPS
        About these images
    About these images

    CGAP SAGE TAG: CGGAAGTGAG

    SOURCE GeneReport for Unigene cluster: Hs.113253

    Expression variation in blood from EXPOLDB for PAX7

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section


    Orthologs for PAX7 gene from 5/11 species (see all 11 )
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    PAX71   -- paired box 7 92.53(n)
    97.89(a)
    487408  XM_544533.2  XP_544533.2 
    chimpanzee
    (Pan troglodytes)
    PAX71   -- paired box 7 99.29(n)
    99.61(a)
    456574  XM_513156.2  XP_513156.2 
    cow
    (Bos taurus)
    PAX71   -- paired box 7 92.45(n)
    98.29(a)
    536229  XM_616352.3  XP_616352.3 
    rat
    (Rattus norvegicus)
    Pax71   -- paired box 7 89.06(n)
    96.57(a)
    500574  XM_575941.2  XP_575941.2 
    mouse
    (Mus musculus)
    Pax71, 5 4 (69.00 cM)5
    paired box gene 71, 5 89.84(n)1
    97.21(a)1
    185091  NM_011039.21  NP_035169.11 
     AF2544225  AK1336935  (see all 11)
    About this table        Species with no ortholog for PAX7

    ENSEMBL Gene Tree for PAX7
    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

    Paralogs for PAX7 gene
    PAX32  PAX62  PAX42  

    (According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
    About This Section


    10/747 NCBI SNPs in PAX7 are shown (see all 747 )
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 277)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr 1 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ------------
    rs7663251,2
    A,C,F,H,O18829045(+) AGTTGG/ATGAGT 2 -- ng5119Minor allele frequency- A:0.43NA EA NS EU WA 1205
    rs7663241,2
    A,C,F,H,O18828991(+) ACTCCT/CGATCA 2 -- ng5112Minor allele frequency- C:0.48NS NA EU EA WA 738
    --
    rs4858741,2
    A,C,F,H,O18945513(+) CCCTCG/AATTCC 1 -- ut3117Minor allele frequency- A:0.44NA EA EU WA 1493
    --
    rs66725341,2
    A,C,F,H18947390(+) ATCACC/GCAACT 1 -- ut318Minor allele frequency- G:0.07EU EA WA NA 628
    rs7663271,2
    A,C,F,H18829257(+) CCTGTC/GCCTAG 2 -- ng5114Minor allele frequency- N:0.00NS EA NA EU WA 848
    rs10101131,2
    A,C,F,H18944339(-) TCTGGG/ACACCC 1 -- ut318Minor allele frequency- A:0.32EU EA WA 802
    --
    rs8511141,2
    A,C,F,H18947812(-) TGGTGC/TGATTA 1 -- ut311Minor allele frequency- T:0.38EU 104
    rs121263981,2
    A,F,H18944452(+) GGATGT/CACTGG 1 -- ut314Minor allele frequency- C:0.01EU EA WA 408
    --
    rs7420721,2
    C,F,H18945777(+) AAGGGC/TTGCTG 1 -- ut317Minor allele frequency- T:0.02EU EA WA NA 548
    rs22556401,2
    A,C,F18830133(+) AGAAGG/ACGTGG 3 -- ut51 trp31Minor allele frequency- A:0.06EA 1084
    About this table

    HapMap Linkage Disequilibrium images for PAX7 (up to first 250kb)

    (in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
    About This Section

    OMIM: 167410   disorders: 268220  

    UniProtKB/Swiss-Prot: PAX7_HUMAN, P23759

  • A chromosomal aberration involving PAX7 is a cause of rhabdomyosarcoma 2 (RMS2)
    [MIM:268220]; also known as alveolar rhabdomyosarcoma. Translocation t(1;13)(p36;q14) with FOXO1.
    The resulting protein is a transcriptional activator
  • 9 Novoseek disease relationships for PAX7 gene

    Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    rhabdomyosarcoma alveolar 89.90 13 9973247 (2), 10700864 (2), 8889501 (1), 17954266 (1) (see all 9)
    rhabdomyosarcoma embryonal 75.56 3 12865925 (1), 10554014 (1), 12647804 (1)
    rhabdomyosarcoma 73.90 9 15688409 (2), 16892556 (1), 9479491 (1), 10534762 (1) (see all 7)
    ewings sarcoma 27.46 2 10554014 (1), 16036108 (1)
    childhood cancer 25.18 1 10700864 (1)
    tumors 21.97 16 15688409 (2), 10554014 (2), 16036108 (2), 10839462 (2) (see all 9)
    primary tumor 11.06 1 16892556 (1)
    melanoma 8.69 4 10554014 (1), 16036108 (1), 12647804 (1), 19441164 (1)
    cancer 0.00 2 9973247 (1), 9570138 (1)
    About this table

    Human Gene Mutation Database: PAX7
    Human Genome Epidemiology Navigator: PAX7 (1 document)

    (Possibly Related Articles in Doctor's Guide)
    About This Section

      --

    (in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
    About This Section

    10/101 PubMed articles for PAX7 gene (see all 101 ):
    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)
    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
    About This Section

    Entrez Gene: 5081 HGNC: 8621 AceView: PAX7 Ensembl:ENSG00000009709 euGenes: HUgn5081
    ECgene: PAX7 H-InvDB: PAX7
    (According to HUGE)
    About This Section

      --
    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section

    NameDescription
    ATLAS Chromosomes in Cancer entry for PAX7 Genetics and Cytogenetics in Oncology and Haematology
    (Available from WIS Yeda, Salk, Tufts)
    About This Section

      --
    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
    Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
    Enzo Life Sciences, and/or Tocris Bioscience)
    About This Section



    Products for PAX7:
     TaqMan ® Gene Expression Assays
     TaqMan ® Genotyping Assays
      Free SNP selection tool



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     Predesigned and custom siRNAs for PAX7 Antibodies for PAX7
     Explore super-pooled esiRNAs Browse proteins at Sigma-Aldrich
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