LOCUS       NM_001135254            6213 bp    mRNA    linear   PRI 18-JUL-2024
DEFINITION  Homo sapiens paired box 7 (PAX7), transcript variant 3, mRNA.
ACCESSION   NM_001135254
VERSION     NM_001135254.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 6213)
  AUTHORS   Mavrommatis,L., Jeong,H.W., Kindler,U., Gomez-Giro,G.,
            Kienitz,M.C., Stehling,M., Psathaki,O.E., Zeuschner,D., Bixel,M.G.,
            Han,D., Morosan-Puopolo,G., Gerovska,D., Yang,J.H., Kim,J.B.,
            Arauzo-Bravo,M.J., Schwamborn,J.C., Hahn,S.A., Adams,R.H.,
            Scholer,H.R., Vorgerd,M., Brand-Saberi,B. and Zaehres,H.
  TITLE     Human skeletal muscle organoids model fetal myogenesis and sustain
            uncommitted PAX7 myogenic progenitors
  JOURNAL   Elife 12, 87081 (2023)
   PUBMED   37963071
  REMARK    GeneRIF: Human skeletal muscle organoids model fetal myogenesis and
            sustain uncommitted PAX7 myogenic progenitors.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 6213)
  AUTHORS   Bouche,A., Borner,B., Richard,C., Grand,Y., Hannouche,D. and
            Laumonier,T.
  TITLE     In vitro-generated human muscle reserve cells are heterogeneous for
            Pax7 with distinct molecular states and metabolic profiles
  JOURNAL   Stem Cell Res Ther 14 (1), 243 (2023)
   PUBMED   37679820
  REMARK    GeneRIF: In vitro-generated human muscle reserve cells are
            heterogeneous for Pax7 with distinct molecular states and metabolic
            profiles.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 6213)
  AUTHORS   Rahman,N.I.A., Lam,C.L., Sulaiman,N., Abdullah,N.A.H., Nordin,F.,
            Ariffin,S.H.Z. and Yazid,M.D.
  TITLE     PAX7, a Key for Myogenesis Modulation in Muscular Dystrophies
            through Multiple Signaling Pathways: A Systematic Review
  JOURNAL   Int J Mol Sci 24 (17), 13051 (2023)
   PUBMED   37685856
  REMARK    GeneRIF: PAX7, a Key for Myogenesis Modulation in Muscular
            Dystrophies through Multiple Signaling Pathways: A Systematic
            Review.
            Review article
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 6213)
  AUTHORS   Manceau,L., Richard Albert,J., Lollini,P.L., Greenberg,M.V.C.,
            Gilardi-Hebenstreit,P. and Ribes,V.
  TITLE     Divergent transcriptional and transforming properties of PAX3-FOXO1
            and PAX7-FOXO1 paralogs
  JOURNAL   PLoS Genet 18 (5), e1009782 (2022)
   PUBMED   35604932
  REMARK    GeneRIF: Divergent transcriptional and transforming properties of
            PAX3-FOXO1 and PAX7-FOXO1 paralogs.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 6213)
  AUTHORS   van den Heuvel,A., Lassche,S., Mul,K., Greco,A., San Leon
            Granado,D., Heerschap,A., Kusters,B., Tapscott,S.J., Voermans,N.C.,
            van Engelen,B.G.M. and van der Maarel,S.M.
  TITLE     Facioscapulohumeral dystrophy transcriptome signatures correlate
            with different stages of disease and are marked by different MRI
            biomarkers
  JOURNAL   Sci Rep 12 (1), 1426 (2022)
   PUBMED   35082321
  REMARK    GeneRIF: Facioscapulohumeral dystrophy transcriptome signatures
            correlate with different stages of disease and are marked by
            different MRI biomarkers.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 6213)
  AUTHORS   Schafer,B.W., Czerny,T., Bernasconi,M., Genini,M. and Busslinger,M.
  TITLE     Molecular cloning and characterization of a human PAX-7 cDNA
            expressed in normal and neoplastic myocytes
  JOURNAL   Nucleic Acids Res 22 (22), 4574-4582 (1994)
   PUBMED   7527137
REFERENCE   7  (bases 1 to 6213)
  AUTHORS   Cross,S.H., Charlton,J.A., Nan,X. and Bird,A.P.
  TITLE     Purification of CpG islands using a methylated DNA binding column
  JOURNAL   Nat Genet 6 (3), 236-244 (1994)
   PUBMED   8012384
REFERENCE   8  (bases 1 to 6213)
  AUTHORS   Shapiro,D.N., Sublett,J.E., Li,B., Valentine,M.B., Morris,S.W. and
            Noll,M.
  TITLE     The gene for PAX7, a member of the paired-box-containing genes, is
            localized on human chromosome arm 1p36
  JOURNAL   Genomics 17 (3), 767-769 (1993)
   PUBMED   7902328
REFERENCE   9  (bases 1 to 6213)
  AUTHORS   Stapleton,P., Weith,A., Urbanek,P., Kozmik,Z. and Busslinger,M.
  TITLE     Chromosomal localization of seven PAX genes and cloning of a novel
            family member, PAX-9
  JOURNAL   Nat Genet 3 (4), 292-298 (1993)
   PUBMED   7981748
REFERENCE   10 (bases 1 to 6213)
  AUTHORS   Burri,M., Tromvoukis,Y., Bopp,D., Frigerio,G. and Noll,M.
  TITLE     Conservation of the paired domain in metazoans and its structure in
            three isolated human genes
  JOURNAL   EMBO J 8 (4), 1183-1190 (1989)
   PUBMED   2501086
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL021528.1, X96743.1,
            DQ322591.1 and DB474828.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_001135254.1.
            
            Summary: 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, Sep 2008].
            
            Transcript Variant: This variant (3) differs in the 3' UTR and
            coding sequence compared to variant 1. The resulting isoform (3)
            has a shorter and distinct C-terminus compared to isoform 1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data because no single transcript was available
            for the full length of the gene. The extent of this transcript is
            supported by transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14372080.603563.1, DQ322591.1
                                           [ECO:0000332]
            RNAseq introns              :: partial sample support SAMEA2148093,
                                           SAMEA2148874 [ECO:0000350]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000420770.7/ ENSP00000403389.2
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-160               AL021528.1         135805-135964       c
            161-400             X96743.1           1-240
            401-2056            X96743.1           242-1897
            2057-2160           DQ322591.1         1382-1485
            2161-2246           DB474828.1         418-503
            2247-2390           DQ322591.1         1572-1715
            2391-6213           AL021528.1         17944-21766         c
FEATURES             Location/Qualifiers
     source          1..6213
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.13"
     gene            1..6213
                     /gene="PAX7"
                     /gene_synonym="CMYO19; CMYP19; HUP1; MYOSCO; PAX7B; RMS2"
                     /note="paired box 7"
                     /db_xref="GeneID:5081"
                     /db_xref="HGNC:HGNC:8621"
                     /db_xref="MIM:167410"
     exon            1..843
                     /gene="PAX7"
                     /gene_synonym="CMYO19; CMYP19; HUP1; MYOSCO; PAX7B; RMS2"
                     /inference="alignment:Splign:2.1.0"
     CDS             759..2276
                     /gene="PAX7"
                     /gene_synonym="CMYO19; CMYP19; HUP1; MYOSCO; PAX7B; RMS2"
                     /note="isoform 3 is encoded by transcript variant 3;
                     paired domain gene 7; paired box homeotic gene 7; paired
                     box protein Pax-7; PAX7 transcriptional factor"
                     /codon_start=1
                     /product="paired box protein Pax-7 isoform 3"
                     /protein_id="NP_001128726.1"
                     /db_xref="CCDS:CCDS44074.1"
                     /db_xref="GeneID:5081"
                     /db_xref="HGNC:HGNC:8621"
                     /db_xref="MIM:167410"
                     /translation="MAALPGTVPRMMRPAPGQNYPRTGFPLEVSTPLGQGRVNQLGGV
                     FINGRPLPNHIRHKIVEMAHHGIRPCVISRQLRVSHGCVSKILCRYQETGSIRPGAIG
                     GSKPRQVATPDVEKKIEEYKRENPGMFSWEIRDRLLKDGHCDRSTVPSGLVSSISRVL
                     RIKFGKKEEEDEADKKEDDGEKKAKHSIDGILGDKGNRLDEGSDVESEPDLPLKRKQR
                     RSRTTFTAEQLEELEKAFERTHYPDIYTREELAQRTKLTEARVQVWFSNRRARWRKQA
                     GANQLAAFNHLLPGGFPPTGMPTLPPYQLPDSTYPTTTISQDGGSTVHRPQPLPPSTM
                     HQGGLAAAAAAADTSSAYGARHSFSSYSDSFMNPAAPSNHMNPVSNGLSPQVMSILGN
                     PSAVPPQPQADFSISPLHGGLDSATSISASCSQRADSIKPGDSLPTSQAYCPPTYSTT
                     GYSVDPVAGYQYGQYGQTAVDYLAKNVSLSTQRRMKLGEHSAVLGLLPVETGQAY"
     exon            844..1079
                     /gene="PAX7"
                     /gene_synonym="CMYO19; CMYP19; HUP1; MYOSCO; PAX7B; RMS2"
                     /inference="alignment:Splign:2.1.0"
     exon            1080..1209
                     /gene="PAX7"
                     /gene_synonym="CMYO19; CMYP19; HUP1; MYOSCO; PAX7B; RMS2"
                     /inference="alignment:Splign:2.1.0"
     exon            1210..1344
                     /gene="PAX7"
                     /gene_synonym="CMYO19; CMYP19; HUP1; MYOSCO; PAX7B; RMS2"
                     /inference="alignment:Splign:2.1.0"
     exon            1345..1544
                     /gene="PAX7"
                     /gene_synonym="CMYO19; CMYP19; HUP1; MYOSCO; PAX7B; RMS2"
                     /inference="alignment:Splign:2.1.0"
     exon            1545..1710
                     /gene="PAX7"
                     /gene_synonym="CMYO19; CMYP19; HUP1; MYOSCO; PAX7B; RMS2"
                     /inference="alignment:Splign:2.1.0"
     exon            1711..1913
                     /gene="PAX7"
                     /gene_synonym="CMYO19; CMYP19; HUP1; MYOSCO; PAX7B; RMS2"
                     /inference="alignment:Splign:2.1.0"
     exon            1914..2160
                     /gene="PAX7"
                     /gene_synonym="CMYO19; CMYP19; HUP1; MYOSCO; PAX7B; RMS2"
                     /inference="alignment:Splign:2.1.0"
     exon            2161..6213
                     /gene="PAX7"
                     /gene_synonym="CMYO19; CMYP19; HUP1; MYOSCO; PAX7B; RMS2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      6194..6199
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PAX7"
                     /gene_synonym="CMYO19; CMYP19; HUP1; MYOSCO; PAX7B; RMS2"
                     /note="hexamer: ATTAAA"
     polyA_site      6213
                     /gene="PAX7"
                     /gene_synonym="CMYO19; CMYP19; HUP1; MYOSCO; PAX7B; RMS2"
                     /note="major polyA site"
ORIGIN      
        1 aacacttttg cacaacttac ccagctgatc actcgcgccc cctcgctttt ccatttctct
       61 ttccccaacc ccgtcacccc ctgtctcctc cgtccagccc tgaaacccga ggaggctcct
      121 tcttccgtct gtccccgggt ctcctagggg acggggctgt gaaagctggt gtggagggag
      181 aagcgagtgt ggtccggaga aagaaggcgt ggagaagagg gagggagcga gagcgagaga
      241 ataaatatat aaataaatac gagaacgaaa tccactccgc agtctccggg ctcggaaact
      301 ttggccccga gcgccagagc gccagagcgc gagagcgcgg cgctcgccac tctgaggctg
      361 gcggcctcga ttccggccgc gttcccccgg cccccctccg ccgcggggcc tggtctccgg
      421 gttctgccag gcgcatcagc ccgcacaact tctggccgag gccagccggc agaggcggac
      481 ttggggttgg agtgtttgtt tgtttgaact tcctcgtcgt cgccaccttc cctcccccca
      541 acctccaccc cacctcaccc ccctccccag cttctggacg cgtttgactg cagccagggg
      601 tggggggtgg gggtagggag tgtgtgtgga ggggagggag aagaggttaa aaaaaagaag
      661 acgaagaaga cggaaagaaa gagatcgcag caggggtgaa gggagcggac gggaagcgat
      721 ttttgccgac tttggattcg tccccggcgt gcgcaagaat ggcggccctt cccggcacgg
      781 taccgagaat gatgcggccg gctccggggc agaactaccc ccgcacggga ttccctttgg
      841 aagtgtccac cccgcttggc caaggccggg tcaatcagct gggaggggtc ttcatcaatg
      901 ggcgacccct gcctaaccac atccgccaca agatagtgga gatggcccac catggcatcc
      961 ggccctgtgt catctcccga cagctgcgtg tctcccacgg ctgcgtctcc aagattcttt
     1021 gccgctacca ggagaccggg tccatccggc ctggggccat cggcggcagc aagcccagac
     1081 aggtggcgac tccggatgta gagaaaaaga ttgaggagta caagagggaa aacccaggca
     1141 tgttcagctg ggagatccgg gacaggctgc tgaaggatgg gcactgtgac cgaagcactg
     1201 tgccctcagg tttagtgagt tcgattagcc gcgtgctcag aatcaagttc gggaagaaag
     1261 aggaggagga tgaagcggac aagaaggagg acgacggcga aaagaaggcc aaacacagca
     1321 tcgacggcat cctgggcgac aaagggaacc ggctggacga gggctcggat gtggagtcgg
     1381 aacctgacct cccactgaag cgcaagcagc gacgcagtcg gaccacattc acggccgagc
     1441 agctggagga gctggagaag gcctttgaga ggacccacta cccagacata tacacccgcg
     1501 aggagctggc gcagaggacc aagctgacag aggcgcgtgt gcaggtctgg ttcagtaacc
     1561 gccgcgcccg ttggcgtaag caggcaggag ccaaccagct ggcggcgttc aaccaccttc
     1621 tgccaggagg cttcccaccc accggcatgc ccacgctgcc cccctaccag ctgccggact
     1681 ccacctaccc caccaccacc atctcccaag atgggggcag cactgtgcac cggcctcagc
     1741 ccctgccacc gtccaccatg caccagggcg ggctggctgc agcggctgca gccgccgaca
     1801 ccagctctgc ctacggagcc cgccacagct tctccagcta ctctgacagc ttcatgaatc
     1861 cggcggcgcc ctccaaccac atgaacccgg tcagcaacgg cctgtctcct caggtgatga
     1921 gcatcttggg caaccccagt gcggtgcccc cgcagccaca ggctgacttc tccatctccc
     1981 cgctgcatgg cggcctggac tcggccacct ccatctcagc cagctgcagc cagcgggccg
     2041 actccatcaa gccaggagac agcctgccca cctcccaggc ctactgccca cccacctaca
     2101 gcaccaccgg ctacagcgtg gaccccgtgg ccggctatca gtacggccag tacggccaga
     2161 ctgctgttga ttatctggcc aaaaatgtga gcctctccac ccagcgtcgc atgaagctcg
     2221 gggagcactc tgctgtgctg ggactcctgc ctgtggaaac tggccaggcc tactagggcc
     2281 cctggggcga cttgccccag cccaattccc agcccaaccc taactgaccc ctgagcttcc
     2341 cagccttgcc gcctcacccc cctgttgtcc taggaggcca ggaaaggagc ccacctgctt
     2401 ctcatcacca gccccctgga ggtagacagc cagcttgtca ctcacctgtg gttagggatc
     2461 cagagtgatg cccttggagt ctgctcccca ctttccccaa ggagggtttc tggtcagcct
     2521 gaggtcctcc cctgtcaaat cccatggtgg cctctgtgcc atctcaggca tggagattgg
     2581 ggcccacctt gaacaccttg ggtgtccaga ggaggatggt gcctgagagg aggtcctaca
     2641 gccctttgga cccaactcca gtgggggccc tagctagaag tggaggtgaa gctttcaggg
     2701 ctgctctcag ctggatgtac tgggagccag ccctgcaagg agggtctctg gctcagtgtc
     2761 agaaccacag ccctttcctc ctctagacat tgggactcca gcaaagaggg gaccctggcc
     2821 ctggggtctt cccaggggag tcagcagggg ggcagtctca cccccaccca ggaatttgaa
     2881 ggacttcaga accctcccca gacacctcta ctgggtgcat ggggaaatct agcacaggca
     2941 gggagactgg ggagaccagg aagaggctta accagagggt aggggcacat gggggtgggg
     3001 cttgtcagcc gtgggcccgc ccaggataca aggacccaac tcaggcttct ggaagcagag
     3061 ggctcttatc ctgaagccca agttcccagc atgtccactc catctggggc ctggggagcc
     3121 cacagaactt ttcagtttcc ttcattagct gaatcagatg agatggggag gggataaagt
     3181 cttgaggata catgagtgga ggagcaggaa gtgggctcag aaggcacttt cataaccaga
     3241 tccctctgtt tgtgggaggg caagcctttg ttgcccaagg cttcagctct ctgcctgcaa
     3301 gtccacaccc cagggagttg agattttgcc caaagccttc cgcagaggcc cgagcccatc
     3361 cttaccatgc cccatcctct aggaagaggt ctccatcttc cccaaacccc tttcagtttg
     3421 tggggatgca gagagctacc ctcagagctt tggaggaggg ttgtagactg ggcagggatg
     3481 gtttgcccca cagacaagat gatcccccct ggcatgttgt taggggcaaa ttgctgtcct
     3541 gctcagagtg gcatctttca atgttgcctc catcttggcc aagaggtccc tgcctcctga
     3601 tccggcacag ctgagctgag gcagatgtga ccagttttca agctaccagc cctgggcaga
     3661 ggaagatgtc aacaattcca gagcagaggg aagaggcacc ttccttgacc acaccagtgg
     3721 cctcctgaag ttccatgctt ttaagagctg ggaccttggg aggatgattc aaaccctcaa
     3781 ttcctcctcc ctgggaactt tttaccacct ttacctattt atcaaaatca tattcatctt
     3841 taccatcact gtcactgtaa tctacattcc atcaccttta tcaggtgctg ctgagtacaa
     3901 agcacttggg atgggagaca cagcactgaa ttcacaaaca ttggaccaaa ctgtttgtcc
     3961 ccatctgggt tcatgaggcc acctctttgc tcaatccatg cctcttgccc tcagtcaaca
     4021 agacattcct agagggaaag ggctgctgct ctgggagtca acctgagttc ctccctcctg
     4081 ggaagctggg ttggcaagat tctaggacac tcacctgcat ggacatcacc tctgtgacaa
     4141 atgcttacct gtttctcatc ttcagacttg gcgatatcaa gcctgttctg gaccatgacc
     4201 aggctggctc atatctctgg tttagagaaa cctatgaata actggggaca aacagactct
     4261 ttggtagcag cagacacatg tgatccatca agatcaacca aggttgcaac tggagcgtcc
     4321 actgccagag acctttggct cttcaagctc gggacaaaaa agaagactct gttgtccctt
     4381 ggtaacccag tccctgcttt tgtagctatc acagcagaaa gcaactcttc ctgaagacca
     4441 aacactcgtc atccacattc cttgaatggc caatccttcc atctggaggc ctggctcaga
     4501 aagtatctga gtatcctgac accctctgtg actcaggagc agggatctca ggcagctgat
     4561 atcaaaacca cccagcccca tccccaggag gcgacattcc aatgctagga ccaatcccag
     4621 atatctggtc ccgatggtga aatggaacaa agacctgctt gggaataaac caaatgattt
     4681 ctcatgacgt tgaacataag ttctcccaag ccatcatctt ggtagaaaat gggacttatt
     4741 ccttgacagg ccccaccccc ttcagaaaga ggcccttgac cctgataggt tctctctaaa
     4801 acccgtatat taacgcatct ggccaacttg ggttataaaa ttcagccttg tgttggcaac
     4861 tcgaaacatc accagagagg tgatgttgaa tgagagacac aaggcctcca tctctttggg
     4921 gctgaccaca gcctgagaaa gaaggtctgg gttccagtgg ccaggccgtc ccagaaacaa
     4981 cccccatcca tccctgtaaa tagagtctgt agcaaaataa gagctgcttc ctccaactta
     5041 tcacaagtcg ccgttggtcc tctctaagga gggctctctt ctgagttcat tgtacaatag
     5101 ttggaaacgt ggtgatgtgc tgttcgttta tagaaagctg actttttata aatatatata
     5161 tatactaaaa aaggaaagaa atcccccaca gtgtgtgtcg tgctagtgcc agagaccatc
     5221 tgtagggata tatcttcata ttgtgtgttt caaattatgc attccaggct ctagtgggtt
     5281 ctttcaatct tgttccttta tttttttcat ttggtatttc tctcttgcta tataaagaaa
     5341 aaaagaagtg atgtgtaaga accaagctat gcttttatac ttccatttta tacttgattt
     5401 agctttgttg ttcttttgcc agaggaacat caaagggcag agcaaacaga gaactagggg
     5461 gataagagag aagaaaagaa gaatggagag agaggtttgc ccagaaggaa aacgaagagc
     5521 cagattgaaa tctgactctg gcttgagaac aggacgggtc ccagagtttg accactgcca
     5581 gaatccagtg tttcaagatg gagttggtga agcatccaag attttggatc ctgggcctca
     5641 gtgacactcc atcacccaac taaaaagatg ttctctggga cctctctcag gctgatgttc
     5701 ttctcatcaa gctcccgaat gtgtctcgca ctattggaca ctttttgggg gtacacaggt
     5761 cttctctcct cccctcctgc agaggcacca aaaccaagac caaatggggg ttctctagcc
     5821 gccaacttga aacgctctga gacttctgtg tatttgatgc ttcttcaagt cagctctgac
     5881 gtggccaatt ccctgacctg ggaaatattt acatagtact ctagatcatt ccttcttcct
     5941 agtaactgca actttgttgc ttctgtgttt gactcacagc cactttcccc catgcggaag
     6001 tgagtgggtg tacgtgaggg tgtgagtggg gtgtgtgcgt gggcgtgtgg gcgtgaggtg
     6061 tgtgtttaaa tataatcaca ccataattta ttcagctata tggagtagta gactagaaag
     6121 agaaactggt atttgcttta actacctgct gcttgtaagc gcttcctctg taactcaggc
     6181 gtaactgtta tacattaaaa gaaattaaaa gca
//
