LOCUS       NM_001366110            2234 bp    mRNA    linear   PRI 04-OCT-2024
DEFINITION  Homo sapiens paired box 4 (PAX4), transcript variant 1, mRNA.
ACCESSION   NM_001366110 XM_011516276
VERSION     NM_001366110.1
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 2234)
  AUTHORS   Lau,H.H., Krentz,N.A.J., Abaitua,F., Perez-Alcantara,M., Chan,J.W.,
            Ajeian,J., Ghosh,S., Lee,Y., Yang,J., Thaman,S., Champon,B.,
            Sun,H., Jha,A., Hoon,S., Tan,N.S., Gardner,D.S., Kao,S.L.,
            Tai,E.S., Gloyn,A.L. and Teo,A.K.K.
  TITLE     PAX4 loss of function increases diabetes risk by altering human
            pancreatic endocrine cell development
  JOURNAL   Nat Commun 14 (1), 6119 (2023)
   PUBMED   37777536
  REMARK    GeneRIF: PAX4 loss of function increases diabetes risk by altering
            human pancreatic endocrine cell development.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2234)
  AUTHORS   Ko,J., Fonseca,V.A. and Wu,H.
  TITLE     Pax4 in Health and Diabetes
  JOURNAL   Int J Mol Sci 24 (9), 8283 (2023)
   PUBMED   37175989
  REMARK    GeneRIF: Pax4 in Health and Diabetes.
            Review article
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2234)
  AUTHORS   Laver,T.W., Wakeling,M.N., Knox,O., Colclough,K., Wright,C.F.,
            Ellard,S., Hattersley,A.T., Weedon,M.N. and Patel,K.A.
  TITLE     Evaluation of Evidence for Pathogenicity Demonstrates That BLK,
            KLF11, and PAX4 Should Not Be Included in Diagnostic Testing for
            MODY
  JOURNAL   Diabetes 71 (5), 1128-1136 (2022)
   PUBMED   35108381
  REMARK    GeneRIF: Evaluation of Evidence for Pathogenicity Demonstrates That
            BLK, KLF11, and PAX4 Should Not Be Included in Diagnostic Testing
            for MODY.
REFERENCE   4  (bases 1 to 2234)
  AUTHORS   Ang,S.F., Low,S., Ng,T.P., Tan,C.S.H., Ang,K., Lim,Z., Tang,W.E.,
            Subramaniam,T., Sum,C.F. and Lim,S.C.
  TITLE     Ethnic-Specific Type 2 Diabetes Risk Factor PAX4 R192H Is
            Associated with Attention-Specific Cognitive Impairment in Chinese
            with Type 2 Diabetes
  JOURNAL   J Alzheimers Dis 88 (1), 241-249 (2022)
   PUBMED   35570489
  REMARK    GeneRIF: Ethnic-Specific Type 2 Diabetes Risk Factor PAX4 R192H Is
            Associated with Attention-Specific Cognitive Impairment in Chinese
            with Type 2 Diabetes.
REFERENCE   5  (bases 1 to 2234)
  AUTHORS   Zhang,Y., Ding,L., Ni,Q., Tao,R. and Qin,J.
  TITLE     Transcription factor PAX4 facilitates gastric cancer progression
            through interacting with miR-27b-3p/Grb2 axis
  JOURNAL   Aging (Albany NY) 13 (12), 16786-16803 (2021)
   PUBMED   34162761
  REMARK    GeneRIF: Transcription factor PAX4 facilitates gastric cancer
            progression through interacting with miR-27b-3p/Grb2 axis.
REFERENCE   6  (bases 1 to 2234)
  AUTHORS   Matsushita,T., Yamaoka,T., Otsuka,S., Moritani,M., Matsumoto,T. and
            Itakura,M.
  TITLE     Molecular cloning of mouse paired-box-containing gene (Pax)-4 from
            an islet beta cell line and deduced sequence of human Pax-4
  JOURNAL   Biochem Biophys Res Commun 242 (1), 176-180 (1998)
   PUBMED   9439631
REFERENCE   7  (bases 1 to 2234)
  AUTHORS   Tamura,T., Izumikawa,Y., Kishino,T., Soejima,H., Jinno,Y. and
            Niikawa,N.
  TITLE     Assignment of the human PAX4 gene to chromosome band 7q32 by
            fluorescence in situ hybridization
  JOURNAL   Cytogenet Cell Genet 66 (2), 132-134 (1994)
   PUBMED   8287686
REFERENCE   8  (bases 1 to 2234)
  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   9  (bases 1 to 2234)
  AUTHORS   Naylor,R., Knight Johnson,A. and del Gaudio,D.
  TITLE     Maturity-Onset Diabetes of the Young Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   29792621
REFERENCE   10 (bases 1 to 2234)
  AUTHORS   Pilz,A.J., Povey,S., Gruss,P. and Abbott,C.M.
  TITLE     Mapping of the human homologs of the murine paired-box-containing
            genes
  JOURNAL   Mamm Genome 4 (2), 78-82 (1993)
   PUBMED   8431641
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC073934.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Sep 22, 2018 this sequence version replaced XM_011516276.3.
            
            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 paired box 4 gene is involved in
            pancreatic islet development and mouse studies have demonstrated a
            role for this gene in differentiation of insulin-producing beta
            cells. [provided by RefSeq, Jul 2008].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on 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##
            RNAseq introns :: mixed sample support SAMEA1968540, SAMEA1968968
                              [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            inferred exon combination :: based on alignments, homology
            MANE Ensembl match        :: ENST00000639438.3/ ENSP00000491782.1
            RefSeq Select criteria    :: based on conservation, expression,
                                         longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-181               AC073934.1         106079-106259
            182-307             AC073934.1         106821-106946
            308-419             AC073934.1         108194-108305
            420-550             AC073934.1         108690-108820
            551-766             AC073934.1         109126-109341
            767-842             AC073934.1         109664-109739
            843-968             AC073934.1         110340-110465
            969-1051            AC073934.1         110689-110771
            1052-1121           AC073934.1         111130-111199
            1122-1177           AC073934.1         112221-112276
            1178-1319           AC073934.1         112545-112686
            1320-2234           AC073934.1         113015-113929
FEATURES             Location/Qualifiers
     source          1..2234
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q32.1"
     gene            1..2234
                     /gene="PAX4"
                     /gene_synonym="KPD; MODY9"
                     /note="paired box 4"
                     /db_xref="GeneID:5078"
                     /db_xref="HGNC:HGNC:8618"
                     /db_xref="MIM:167413"
     exon            1..181
                     /gene="PAX4"
                     /gene_synonym="KPD; MODY9"
                     /inference="alignment:Splign:2.1.0"
     exon            182..307
                     /gene="PAX4"
                     /gene_synonym="KPD; MODY9"
                     /inference="alignment:Splign:2.1.0"
     exon            308..419
                     /gene="PAX4"
                     /gene_synonym="KPD; MODY9"
                     /inference="alignment:Splign:2.1.0"
     CDS             407..1462
                     /gene="PAX4"
                     /gene_synonym="KPD; MODY9"
                     /note="isoform 1 is encoded by transcript variant 1;
                     paired domain gene 4; paired box gene 4; paired box
                     protein Pax-4"
                     /codon_start=1
                     /product="paired box protein Pax-4 isoform 1"
                     /protein_id="NP_001353039.1"
                     /db_xref="CCDS:CCDS94191.1"
                     /db_xref="GeneID:5078"
                     /db_xref="HGNC:HGNC:8618"
                     /db_xref="MIM:167413"
                     /translation="MHQDGISSMNQLGGLFVNGRPLPLDTRQQIVRLAVSGMRPCDIS
                     RILKVSNGCVSKILGRYYRTGVLEPKGIGGSKPRLATPPVVARIAQLKGECPALFAWE
                     IQRQLCAEGLCTQDKTPSVSSINRVLRALQEDQGLPCTRLRSPAVLAPAVLTPHSGSE
                     TPRGTHPGTGHRNRTIFSPSQAEALEKEFQRGQYPDSVARGKLATATSLPEDTVRVWF
                     SNRRAKWRRQEKLKWEMQLPGASQGLTVPRVAPGIISAQQSPGSVPTAALPALEPLGP
                     SCYQLCWATAPERCLSDTPPKACLKPCWGHLPPQPNSLDSGLLCLPCPSSHCHLASLS
                     GSQALLWPGCPLLYGLE"
     exon            420..550
                     /gene="PAX4"
                     /gene_synonym="KPD; MODY9"
                     /inference="alignment:Splign:2.1.0"
     exon            551..766
                     /gene="PAX4"
                     /gene_synonym="KPD; MODY9"
                     /inference="alignment:Splign:2.1.0"
     exon            767..842
                     /gene="PAX4"
                     /gene_synonym="KPD; MODY9"
                     /inference="alignment:Splign:2.1.0"
     exon            843..968
                     /gene="PAX4"
                     /gene_synonym="KPD; MODY9"
                     /inference="alignment:Splign:2.1.0"
     exon            969..1051
                     /gene="PAX4"
                     /gene_synonym="KPD; MODY9"
                     /inference="alignment:Splign:2.1.0"
     exon            1052..1121
                     /gene="PAX4"
                     /gene_synonym="KPD; MODY9"
                     /inference="alignment:Splign:2.1.0"
     exon            1122..1177
                     /gene="PAX4"
                     /gene_synonym="KPD; MODY9"
                     /inference="alignment:Splign:2.1.0"
     exon            1178..1319
                     /gene="PAX4"
                     /gene_synonym="KPD; MODY9"
                     /inference="alignment:Splign:2.1.0"
     exon            1320..2234
                     /gene="PAX4"
                     /gene_synonym="KPD; MODY9"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1700..1705
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PAX4"
                     /gene_synonym="KPD; MODY9"
                     /note="hexamer: AATAAA"
     polyA_site      1725
                     /gene="PAX4"
                     /gene_synonym="KPD; MODY9"
                     /note="major polyA site"
ORIGIN      
        1 agaaggctgc cctctgctct tgagcacggg ctctctatag ctctggaccc cctggcagga
       61 ctgaagcagg agcagagtgg aggctgttac caagaccaga tcatcaccac ccctggagcc
      121 tgcaggggtc tcagaagctg agacctccca ctgaagctcc cacctcattt cctccacaca
      181 gcccctgact tgtggcaatg ccaatctgtg cctcagtttt ctctttggaa aacctctgcc
      241 ttctttcccg actttttgga aagatgagaa tttgaagggg tctgtgcctc tacctaccta
      301 gaaacaaagc cagcccccaa gctggaaaag gagctcctag aaggaacttc ccttcccagc
      361 cttcccagct ggagtctcat ccttctgagg agggtcagcc tggagcatgc atcaggacgg
      421 gatcagcagc atgaaccagc ttggggggct ctttgtgaat ggccggcccc tgcctctgga
      481 tacccggcag cagattgtgc ggctagcagt cagtggaatg cggccctgtg acatctcacg
      541 gatccttaag gtatctaatg gctgtgtgag caagatccta gggcgttact accgcacagg
      601 tgtcttggag ccaaagggca ttgggggaag caagccacgg ctggctacac cccctgtggt
      661 ggctcgaatt gcccagctga agggtgagtg tccagccctc tttgcctggg aaatccaacg
      721 ccagctttgt gctgaagggc tttgcaccca ggacaagact cccagtgtct cctccatcaa
      781 ccgagtcctg cgggcattac aggaggacca gggactaccg tgcacacggc tcaggtcacc
      841 agctgttttg gctccagctg tcctcactcc ccatagtggc tctgagactc cccggggtac
      901 ccacccaggg accggccacc ggaatcggac tatcttctcc ccaagccaag cagaggcact
      961 ggagaaagag ttccagcgtg ggcagtatcc tgattcagtg gcccgtggaa agctggctac
     1021 tgccacctct ctgcctgagg acacggtgag ggtctggttt tccaacagaa gagccaaatg
     1081 gcgtcggcaa gagaagctca agtgggaaat gcagctgcca ggtgcttccc aggggctgac
     1141 tgtaccaagg gttgccccag gaatcatctc tgcacagcag tcccctggca gtgtgcccac
     1201 agcagccctg cctgccctgg aaccactggg tccctcctgc tatcagctgt gctgggcaac
     1261 agcaccagaa aggtgtctga gtgacacccc acctaaagcc tgtctcaagc cctgctgggg
     1321 ccacttgccc ccacagccga attccctgga ctcaggactg ctttgccttc cttgcccttc
     1381 ctcccactgt cacctggcca gtcttagtgg ctctcaggcc ctgctctggc ctggctgccc
     1441 actactgtat ggcttggaat gaggcaggag tgggaaggag atggcataga gaagatctaa
     1501 taccatcctg cccattgtcc ttaccgtcct gcccatacag actgtggctc cttcctcctt
     1561 cctgtgattg ctccctcctg tgtggacgtt gcctggccct gcctcgatgc ctctctggcg
     1621 catcacctga ttggaggggc tggtaaagca acacccaccc acttctcaca ctagccttaa
     1681 gaggcctcca ctcagcagta ataaaagctg tttttattag cagtagttct gttgtccatc
     1741 atgttttccc tatgagcacc cctatgccca ctctaatatt caacaattat agacaatttg
     1801 ccctatcatt tatttacatc tatgtatcta ccatctaatc tatgcatgta tgtaggcaat
     1861 acatgtatct aaacaatgta tttgtcaatg catcaattta cctactctat gtatgcatct
     1921 atatgtgtat tatgtatgcg tgcatgcgtg cgcgcacaca cacacacaca cacacacact
     1981 gacattatat catggcattt tattcctaaa tcttccagca tgcatcccca aaaaacaaga
     2041 aacttgtctt acataatcac aataatatat ccacatctaa gaaaatttac tgtaacttct
     2101 taatctaaga aaattatgta tttttgtcat atgtattttg tcatatgtat tttgtatttg
     2161 catatgtatt ttgtatttgc atatgtattt ttgtcatagc agcaaacaga gtgaaatgcc
     2221 atttttcata ttct
//
