LOCUS       NM_016631               3892 bp    mRNA    linear   PRI 06-JUN-2024
DEFINITION  Homo sapiens PAX3 and PAX7 binding protein 1 (PAXBP1), transcript
            variant 1, mRNA.
ACCESSION   NM_016631
VERSION     NM_016631.4
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 3892)
  AUTHORS   Alharby,E., Albalawi,A.M., Nasir,A., Alhijji,S.A., Mahmood,A.,
            Ramzan,K., Abdusamad,F., Aljohani,A., Abdelsalam,O., Eldardear,A.
            and Basit,S.
  TITLE     A homozygous potentially pathogenic variant in the PAXBP1 gene in a
            large family with global developmental delay and myopathic
            hypotonia
  JOURNAL   Clin Genet 92 (6), 579-586 (2017)
   PUBMED   28542722
  REMARK    GeneRIF: A homozygous potentially pathogenic variant in the PAXBP1
            gene in a large family with global developmental delay and
            myopathic hypotonia has been reported.
REFERENCE   2  (bases 1 to 3892)
  AUTHORS   Diao,Y., Guo,X., Li,Y., Sun,K., Lu,L., Jiang,L., Fu,X., Zhu,H.,
            Sun,H., Wang,H. and Wu,Z.
  TITLE     Pax3/7BP is a Pax7- and Pax3-binding protein that regulates the
            proliferation of muscle precursor cells by an epigenetic mechanism
  JOURNAL   Cell Stem Cell 11 (2), 231-241 (2012)
   PUBMED   22862948
REFERENCE   3  (bases 1 to 3892)
  AUTHORS   Mudge,J.M., Frankish,A., Fernandez-Banet,J., Alioto,T., Derrien,T.,
            Howald,C., Reymond,A., Guigo,R., Hubbard,T. and Harrow,J.
  TITLE     The origins, evolution, and functional potential of alternative
            splicing in vertebrates
  JOURNAL   Mol Biol Evol 28 (10), 2949-2959 (2011)
   PUBMED   21551269
REFERENCE   4  (bases 1 to 3892)
  AUTHORS   Hu,Y.H., Warnatz,H.J., Vanhecke,D., Wagner,F., Fiebitz,A.,
            Thamm,S., Kahlem,P., Lehrach,H., Yaspo,M.L. and Janitz,M.
  TITLE     Cell array-based intracellular localization screening reveals novel
            functional features of human chromosome 21 proteins
  JOURNAL   BMC Genomics 7, 155 (2006)
   PUBMED   16780588
  REMARK    Publication Status: Online-Only
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC062992.1 and BC030539.1.
            
            On Nov 23, 2018 this sequence version replaced NM_016631.3.
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC062992.1, SRR1660805.117191.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000331923.9/ ENSP00000328992.4
            RefSeq Select criteria :: based on conservation, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-68                BC062992.1         104-171
            69-1280             BC030539.1         117-1328
            1281-3892           BC062992.1         1385-3996
FEATURES             Location/Qualifiers
     source          1..3892
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="21"
                     /map="21q22.11"
     gene            1..3892
                     /gene="PAXBP1"
                     /gene_synonym="BM020; C21orf66; FSAP105; GCFC; GCFC1"
                     /note="PAX3 and PAX7 binding protein 1"
                     /db_xref="GeneID:94104"
                     /db_xref="HGNC:HGNC:13579"
                     /db_xref="MIM:617621"
     exon            1..430
                     /gene="PAXBP1"
                     /gene_synonym="BM020; C21orf66; FSAP105; GCFC; GCFC1"
                     /inference="alignment:Splign:2.1.0"
     CDS             88..2841
                     /gene="PAXBP1"
                     /gene_synonym="BM020; C21orf66; FSAP105; GCFC; GCFC1"
                     /note="isoform 1 is encoded by transcript variant 1;
                     functional spliceosome-associated protein 105; GC-rich
                     sequence DNA-binding factor candidate; GC-rich sequence
                     DNA-binding factor 1"
                     /codon_start=1
                     /product="PAX3- and PAX7-binding protein 1 isoform 1"
                     /protein_id="NP_057715.2"
                     /db_xref="CCDS:CCDS13619.1"
                     /db_xref="GeneID:94104"
                     /db_xref="HGNC:HGNC:13579"
                     /db_xref="MIM:617621"
                     /translation="MFRKARRVNVRKRNDSEEEERERDEEQEPPPLLPPPGTGEEAGP
                     GGGDRAPGGESLLGPGPSPPSALTPGLGAEAGGGFPGGAEPGNGLKPRKRPRENKEVP
                     RASLLSFQDEEEENEEVFKVKKSSYSKKIVKLLKKEYKEDLEKSKIKTELNSSAESEQ
                     PLDKTGHVKDTNQEDGVIISEHGEDEMDMESEKEEEKPKTGGAFSNALSSLNVLRPGE
                     IPDAAFIHAARKKRQMARELGDFTPHDNEPGKGRLVREDENDASDDEDDDEKRRIVFS
                     VKEKSQRQKIAEEIGIEGSDDDALVTGEQDEELSRWEQEQIRKGINIPQVQASQPAEV
                     NMYYQNTYQTMPYGSSYGIPYSYTAYGSSDAKSQKTDNTVPFKTPSNEMTPVTIDLVK
                     KQLKDRLDSMKELHKTNRQQHEKHLQSRVDSTRAIERLEGSSGGIGERYKFLQEMRGY
                     VQDLLECFSEKVPLINELESAIHQLYKQRASRLVQRRQDDIKDESSEFSSHSNKALMA
                     PNLDSFGRDRALYQEHAKRRIAEREARRTRRRQAREQTGKMADHLEGLSSDDEETSTD
                     ITNFNLEKDRISKESGKVFEDVLESFYSIDCIKSQFEAWRSKYYTSYKDAYIGLCLPK
                     LFNPLIRLQLLTWTPLEAKCRDFENMLWFESLLFYGCEEREQEKDDVDVALLPTIVEK
                     VILPKLTVIAENMWDPFSTTQTSRMVGITLKLINGYPSVVNAENKNTQVYLKALLLRM
                     RRTLDDDVFMPLYPKNVLENKNSGPYLFFQRQFWSSVKLLGNFLQWYGIFSNKTLQEL
                     SIDGLLNRYILMAFQNSEYGDDSIKKAQNVINCFPKQWFMNLKGERTISQLENFCRYL
                     VHLADTIYRNSIGCSDVEKRNARENIKQIVKLLASVRALDHAMSVASDHNVKEFKSLI
                     EGK"
     exon            431..559
                     /gene="PAXBP1"
                     /gene_synonym="BM020; C21orf66; FSAP105; GCFC; GCFC1"
                     /inference="alignment:Splign:2.1.0"
     exon            560..736
                     /gene="PAXBP1"
                     /gene_synonym="BM020; C21orf66; FSAP105; GCFC; GCFC1"
                     /inference="alignment:Splign:2.1.0"
     exon            737..958
                     /gene="PAXBP1"
                     /gene_synonym="BM020; C21orf66; FSAP105; GCFC; GCFC1"
                     /inference="alignment:Splign:2.1.0"
     exon            959..1062
                     /gene="PAXBP1"
                     /gene_synonym="BM020; C21orf66; FSAP105; GCFC; GCFC1"
                     /inference="alignment:Splign:2.1.0"
     exon            1063..1280
                     /gene="PAXBP1"
                     /gene_synonym="BM020; C21orf66; FSAP105; GCFC; GCFC1"
                     /inference="alignment:Splign:2.1.0"
     exon            1281..1470
                     /gene="PAXBP1"
                     /gene_synonym="BM020; C21orf66; FSAP105; GCFC; GCFC1"
                     /inference="alignment:Splign:2.1.0"
     exon            1471..1594
                     /gene="PAXBP1"
                     /gene_synonym="BM020; C21orf66; FSAP105; GCFC; GCFC1"
                     /inference="alignment:Splign:2.1.0"
     exon            1595..1694
                     /gene="PAXBP1"
                     /gene_synonym="BM020; C21orf66; FSAP105; GCFC; GCFC1"
                     /inference="alignment:Splign:2.1.0"
     exon            1695..1810
                     /gene="PAXBP1"
                     /gene_synonym="BM020; C21orf66; FSAP105; GCFC; GCFC1"
                     /inference="alignment:Splign:2.1.0"
     exon            1811..2010
                     /gene="PAXBP1"
                     /gene_synonym="BM020; C21orf66; FSAP105; GCFC; GCFC1"
                     /inference="alignment:Splign:2.1.0"
     exon            2011..2155
                     /gene="PAXBP1"
                     /gene_synonym="BM020; C21orf66; FSAP105; GCFC; GCFC1"
                     /inference="alignment:Splign:2.1.0"
     exon            2156..2277
                     /gene="PAXBP1"
                     /gene_synonym="BM020; C21orf66; FSAP105; GCFC; GCFC1"
                     /inference="alignment:Splign:2.1.0"
     exon            2278..2354
                     /gene="PAXBP1"
                     /gene_synonym="BM020; C21orf66; FSAP105; GCFC; GCFC1"
                     /inference="alignment:Splign:2.1.0"
     exon            2355..2421
                     /gene="PAXBP1"
                     /gene_synonym="BM020; C21orf66; FSAP105; GCFC; GCFC1"
                     /inference="alignment:Splign:2.1.0"
     exon            2422..2568
                     /gene="PAXBP1"
                     /gene_synonym="BM020; C21orf66; FSAP105; GCFC; GCFC1"
                     /inference="alignment:Splign:2.1.0"
     exon            2569..2723
                     /gene="PAXBP1"
                     /gene_synonym="BM020; C21orf66; FSAP105; GCFC; GCFC1"
                     /inference="alignment:Splign:2.1.0"
     exon            2724..3892
                     /gene="PAXBP1"
                     /gene_synonym="BM020; C21orf66; FSAP105; GCFC; GCFC1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3871..3876
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PAXBP1"
                     /gene_synonym="BM020; C21orf66; FSAP105; GCFC; GCFC1"
                     /note="hexamer: ATTAAA"
     polyA_site      3892
                     /gene="PAXBP1"
                     /gene_synonym="BM020; C21orf66; FSAP105; GCFC; GCFC1"
                     /note="major polyA site"
ORIGIN      
        1 ggagagcgcg cgtgcgccgt cacgagctcg gcgctgccgg ggccgcggtg tggaagcgag
       61 tattcgaccg ccgtgcgggc cgcggggatg ttccgaaagg cccggcgggt gaacgtgcgc
      121 aagcggaacg actccgaaga ggaagagcgg gaacgcgatg aggagcagga gccgccgccg
      181 ttgttgccgc cgccgggcac gggcgaagag gcgggccccg gtggcggcga cagggcccct
      241 ggcggggagt cgctgctggg cccggggccg tcgccgcctt ccgcgctgac cccgggcctc
      301 ggggctgagg ccgggggcgg cttccccggc ggcgcggagc ccggcaacgg gctgaagccg
      361 cgcaagaggc ctcgcgagaa caaagaggtg ccccgggcca gcctgctcag cttccaggac
      421 gaggaggaag aaaatgaaga agttttcaaa gtgaagaaat caagttatag caaaaagata
      481 gtaaaattgc tcaagaagga atataaagaa gatcttgaaa aatcgaagat taagacagaa
      541 ctcaactcat cagctgaaag tgaacaacct ttggacaaaa caggacatgt taaggataca
      601 aatcaagaag atggagttat catcagtgaa catggtgaag atgaaatgga tatggaaagt
      661 gaaaaagagg aagaaaagcc aaagactggt ggagcttttt caaatgcttt atcttcattg
      721 aatgttcttc gtccaggaga aattccagat gcagctttta tacatgctgc aaggaaaaag
      781 cgccaaatgg cccgagaatt gggagatttc actcctcatg ataatgagcc tggtaaaggc
      841 cgccttgtta gagaagatga gaatgatgcc agtgatgatg aagatgacga tgagaaacgc
      901 cggatagttt tttctgtgaa agaaaagtca caaagacaaa aaattgctga ggaaatagga
      961 attgagggga gtgatgatga tgctttagta actggagaac aggatgaaga gctcagccga
     1021 tgggaacagg agcagataag gaaaggaatt aatatccctc aggttcaagc cagtcaaccc
     1081 gcagaagtga atatgtacta ccagaacact taccagacaa tgccttacgg ctcatcctat
     1141 ggcattcctt atagttatac ggcctatgga tcatcagatg ccaaatctca aaaaacagat
     1201 aatacagtcc ctttcaaaac tcccagtaat gagatgactc ccgttactat tgatttggta
     1261 aagaaacagc ttaaagacag gttggactcc atgaaagaat tgcacaaaac aaatcgacag
     1321 cagcatgaga aacatctgca aagccgagtg gactctacca gggctattga aagattagaa
     1381 gggtcttctg ggggtattgg tgaacggtat aaatttttgc aagaaatgcg agggtatgtc
     1441 caagacttgc ttgagtgttt cagtgaaaag gtgccactga ttaatgaact tgaatcagca
     1501 atacatcagc tgtacaaaca gcgagcttcc cgccttgtcc aaagacgaca agatgatatt
     1561 aaagatgaat cttcggagtt ttcaagccat tcaaacaaag ctctgatggc accaaatctt
     1621 gactcctttg gacgcgatcg ggcactgtat caagagcatg caaaacgtcg cattgcagag
     1681 cgggaggcca ggaggactcg tcgtagacaa gccagagaac aaaccggtaa gatggcagat
     1741 caccttgaag gcctttccag tgatgatgaa gaaacttcta cagatattac taatttcaat
     1801 ctggaaaaag atcgaatttc aaaagaatcc ggcaaagttt ttgaagatgt ccttgaaagt
     1861 ttctattcaa ttgactgtat taaatcacag tttgaagcat ggcgttcaaa atactacaca
     1921 tcctacaaag atgcttacat tggcctttgt ttgccaaaat tattcaaccc cctcatacga
     1981 cttcagctcc tcacttggac tcctcttgag gcaaaatgtc gtgactttga gaatatgctg
     2041 tggtttgaat ctttgctgtt ttatggttgt gaagaacgag agcaagaaaa agatgatgta
     2101 gatgttgccc tactacctac cattgtggaa aaggtgattc ttcctaaact aacagtgata
     2161 gctgaaaata tgtgggaccc tttttctaca acacagactt caagaatggt gggaattaca
     2221 ctaaaattaa tcaatggata tccttcagta gtgaatgcag aaaataaaaa tacacaggta
     2281 tacctaaagg cacttttatt gagaatgaga agaactttag atgatgatgt atttatgccc
     2341 ttatatccca aaaatgtctt agaaaataaa aattctgggc cttacttgtt ttttcaacga
     2401 cagttttggt cttcagttaa gctgttaggc aattttcttc agtggtatgg cattttctca
     2461 aataaaactc tgcaagagtt atcaatagat ggtttattaa atcgatatat tctcatggct
     2521 tttcagaatt cagaatatgg agatgacagc atcaaaaaag cccaaaatgt aatcaattgt
     2581 ttccccaaac aatggttcat gaatctgaaa ggagaaagga ctatttctca gttagaaaac
     2641 ttttgccgat accttgtaca cttagcggat acaatttata gaaatagtat cgggtgttct
     2701 gatgtggaaa aaagaaatgc aagggaaaac ataaaacaga tagtaaaact ccttgcaagt
     2761 gttcgagctt tggatcatgc tatgtctgtt gcaagtgacc acaatgtgaa agaatttaag
     2821 tctttgatcg aaggaaaata gatctatgag actgaaaaac ctatttgctt gattaccatt
     2881 cccaatgtgt aaattttgta tatatgtaaa gtttcttaaa ctgtaaaata gcaattcttg
     2941 ttttaataca aaaaacatta tattcaatac tgtgtcctta aatgatattt cttcagaatg
     3001 aaaggaattc agattatttc taggagtcta tgaatgtttt ctttactgcc tgtcatactt
     3061 tgtttactga agtattttgt atggtcattt aaattaaccc tctcagttaa ttgtcccctg
     3121 taaacgatgt gtgcagtgta aattgtgtaa ttatgcatat atatatttat accaccatgg
     3181 acttactttc acactggaaa tttgtggtgt ttttccacag aggaagcctt ttaacagcag
     3241 aaaattatcc ggtagcaaat tgtcttaggg aaattactac actgttgtaa caaaagggct
     3301 ggcaagtgac taaatgttca ttaccttttg gttagcgttg ctatcactgt agctgtgctg
     3361 ccttaacatt gagagttgag ttgtggactt agtcattgag tgaatgttga actttcttcc
     3421 ttgaatcagc gttagagtca aatgtgggtt taatgtgaat gctaaatgaa tatgcaacat
     3481 agtttcaaat ggaacataga aatttcactt ttgaaaataa taaacccaca acctaattgc
     3541 atggttttgg gctgaccgtc ctgtctcatt catgatttta ctccctgccc agcttgcaga
     3601 tacatgcatt tgaattttag tagtctgtca tatttaaaat cccacatatg tgagttaaat
     3661 atgcaataaa gaatacgcct tgctgattag ccacacccag gcaatttaat atccatggtc
     3721 ttctataatg tttataccac attgtaaata ttcagagaac ttgttttaaa gtttatgctt
     3781 tctgattctg tgattttcaa aagaggaatt tttttggaaa ttaaggacta tcgtttgata
     3841 attatatatg taattaagat ttagccaagc attaaattaa tttttaaata ta
//
