LOCUS       NM_005029               1426 bp    mRNA    linear   PRI 09-OCT-2024
DEFINITION  Homo sapiens paired like homeodomain 3 (PITX3), mRNA.
ACCESSION   NM_005029
VERSION     NM_005029.4
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 1426)
  AUTHORS   Berry,V., Ionides,A., Pontikos,N., Moore,A.T., Quinlan,R.A. and
            Michaelides,M.
  TITLE     Variants in PAX6, PITX3 and HSF4 causing autosomal dominant
            congenital cataracts
  JOURNAL   Eye (Lond) 36 (8), 1694-1701 (2022)
   PUBMED   34345029
  REMARK    GeneRIF: Variants in PAX6, PITX3 and HSF4 causing autosomal
            dominant congenital cataracts.
REFERENCE   2  (bases 1 to 1426)
  AUTHORS   Eskandarian Boroujeni,M., Aliaghaei,A., Maghsoudi,N. and
            Gardaneh,M.
  TITLE     Complementation of dopaminergic signaling by Pitx3-GDNF synergy
            induces dopamine secretion by multipotent Ntera2 cells
  JOURNAL   J Cell Biochem 121 (1), 200-212 (2020)
   PUBMED   31310388
  REMARK    GeneRIF: Complementation of dopaminergic signaling by Pitx3-GDNF
            synergy induces dopamine secretion by multipotent Ntera2 cells.
REFERENCE   3  (bases 1 to 1426)
  AUTHORS   Wu,Z., Meng,D., Fang,C., Li,J., Zheng,X., Lin,J., Zeng,H., Lv,S.,
            Zhang,Z., Luan,B., Zhong,Z. and Chen,J.
  TITLE     PITX3 mutations associated with autosomal dominant congenital
            cataract in the Chinese population
  JOURNAL   Mol Med Rep 19 (4), 3123-3131 (2019)
   PUBMED   30816539
  REMARK    GeneRIF: The functional analysis of these 2 PITX3 mutations in the
            in vitro functional studies is an important complement and
            extension, which provides a potential interpretation for the
            pathogenesis and molecular mechanism of PITX3 mutations associated
            with CC.
REFERENCE   4  (bases 1 to 1426)
  AUTHORS   Fan,Q., Li,D., Cai,L., Qiu,X., Zhao,Z., Wu,J., Yang,J. and Lu,Y.
  TITLE     A novel mutation in the OAR domain of PITX3 associated with
            congenital posterior subcapsular cataract
  JOURNAL   BMC Med Genet 20 (1), 42 (2019)
   PUBMED   30894134
  REMARK    GeneRIF: The mutation c.797_814del, p.Ser266_Ala271del is a novel
            mutation in the conserved DNA-binding OAR domain of PITX3 that
            causes congenital cataract.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1426)
  AUTHORS   Zazo Seco,C., Plaisancie,J., Lupasco,T., Michot,C., Pechmeja,J.,
            Delanne,J., Cottereau,E., Ayuso,C., Corton,M., Calvas,P., Ragge,N.
            and Chassaing,N.
  TITLE     Identification of PITX3 mutations in individuals with various
            ocular developmental defects
  JOURNAL   Ophthalmic Genet 39 (3), 314-320 (2018)
   PUBMED   29405783
  REMARK    GeneRIF: Heterozygous mutation in the PITX3 gene is associated with
            ocular developmental defects.
REFERENCE   6  (bases 1 to 1426)
  AUTHORS   Berry,V., Yang,Z., Addison,P.K., Francis,P.J., Ionides,A.,
            Karan,G., Jiang,L., Lin,W., Hu,J., Yang,R., Moore,A., Zhang,K. and
            Bhattacharya,S.S.
  TITLE     Recurrent 17 bp duplication in PITX3 is primarily associated with
            posterior polar cataract (CPP4)
  JOURNAL   J Med Genet 41 (8), e109 (2004)
   PUBMED   15286169
  REMARK    GeneRIF: A family with posterior polar cataract with a novel
            deletion mutation in PITX3.
REFERENCE   7  (bases 1 to 1426)
  AUTHORS   Nelson,K.A. and Witte,J.S.
  TITLE     Androgen receptor CAG repeats and prostate cancer
  JOURNAL   Am J Epidemiol 155 (10), 883-890 (2002)
   PUBMED   11994226
  REMARK    GeneRIF: Meta-analysis and HuGE review of genotype prevalence and
            gene-disease association. (HuGE Navigator)
            Review article
REFERENCE   8  (bases 1 to 1426)
  AUTHORS   Semina,E.V., Ferrell,R.E., Mintz-Hittner,H.A., Bitoun,P.,
            Alward,W.L., Reiter,R.S., Funkhauser,C., Daack-Hirsch,S. and
            Murray,J.C.
  TITLE     A novel homeobox gene PITX3 is mutated in families with
            autosomal-dominant cataracts and ASMD
  JOURNAL   Nat Genet 19 (2), 167-170 (1998)
   PUBMED   9620774
REFERENCE   9  (bases 1 to 1426)
  AUTHORS   Bardakjian,T., Weiss,A. and Schneider,A.
  TITLE     Microphthalmia/Anophthalmia/Coloboma Spectrum - RETIRED CHAPTER,
            FOR HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301552
REFERENCE   10 (bases 1 to 1426)
  AUTHORS   Hittner,H.M., Kretzer,F.L., Antoszyk,J.H., Ferrell,R.E. and
            Mehta,R.S.
  TITLE     Variable expressivity of autosomal dominant anterior segment
            mesenchymal dysgenesis in six generations
  JOURNAL   Am J Ophthalmol 93 (1), 57-70 (1982)
   PUBMED   6801987
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL160011.35.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 26, 2018 this sequence version replaced NM_005029.3.
            
            Summary: This gene encodes a member of the RIEG/PITX homeobox
            family, which is in the bicoid class of homeodomain proteins.
            Members of this family act as transcription factors. This protein
            is involved in lens formation during eye development. Mutations of
            this gene have been associated with anterior segment mesenchymal
            dysgenesis and congenital cataracts. [provided by RefSeq, Jul
            2008].
            
            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 :: BC011642.2, DRR138525.618869.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA2148874,
                                           SAMEA2151119 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000370002.8/ ENSP00000359019.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-180               AL160011.35        26656-26835         c
            181-310             AL160011.35        17286-17415         c
            311-513             AL160011.35        16911-17113         c
            514-1426            AL160011.35        15512-16424         c
FEATURES             Location/Qualifiers
     source          1..1426
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q24.32"
     gene            1..1426
                     /gene="PITX3"
                     /gene_synonym="ASGD1; ASMD; ASOD; CTPP4; CTRCT11; PTX3"
                     /note="paired like homeodomain 3"
                     /db_xref="GeneID:5309"
                     /db_xref="HGNC:HGNC:9006"
                     /db_xref="MIM:602669"
     exon            1..180
                     /gene="PITX3"
                     /gene_synonym="ASGD1; ASMD; ASOD; CTPP4; CTRCT11; PTX3"
                     /inference="alignment:Splign:2.1.0"
     exon            181..310
                     /gene="PITX3"
                     /gene_synonym="ASGD1; ASMD; ASOD; CTPP4; CTRCT11; PTX3"
                     /inference="alignment:Splign:2.1.0"
     CDS             193..1101
                     /gene="PITX3"
                     /gene_synonym="ASGD1; ASMD; ASOD; CTPP4; CTRCT11; PTX3"
                     /note="homeobox protein PITX3"
                     /codon_start=1
                     /product="pituitary homeobox 3"
                     /protein_id="NP_005020.1"
                     /db_xref="CCDS:CCDS7532.1"
                     /db_xref="GeneID:5309"
                     /db_xref="HGNC:HGNC:9006"
                     /db_xref="MIM:602669"
                     /translation="MEFGLLSEAEARSPALSLSDAGTPHPQLPEHGCKGQEHSDSEKA
                     SASLPGGSPEDGSLKKKQRRQRTHFTSQQLQELEATFQRNRYPDMSTREEIAVWTNLT
                     EARVRVWFKNRRAKWRKRERSQQAELCKGSFAAPLGGLVPPYEEVYPGYSYGNWPPKA
                     LAPPLAAKTFPFAFNSVNVGPLASQPVFSPPSSIAASMVPSAAAAPGTVPGPGALQGL
                     GGGPPGLAPAAVSSGAVSCPYASAAAAAAAAASSPYVYRDPCNSSLASLRLKAKQHAS
                     FSYPAVHGPPPAANLSPCQYAVERPV"
     exon            311..513
                     /gene="PITX3"
                     /gene_synonym="ASGD1; ASMD; ASOD; CTPP4; CTRCT11; PTX3"
                     /inference="alignment:Splign:2.1.0"
     exon            514..1426
                     /gene="PITX3"
                     /gene_synonym="ASGD1; ASMD; ASOD; CTPP4; CTRCT11; PTX3"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1406..1411
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PITX3"
                     /gene_synonym="ASGD1; ASMD; ASOD; CTPP4; CTRCT11; PTX3"
                     /note="hexamer: AATAAA"
     polyA_site      1426
                     /gene="PITX3"
                     /gene_synonym="ASGD1; ASMD; ASOD; CTPP4; CTRCT11; PTX3"
                     /note="major polyA site"
ORIGIN      
        1 ggcagtacgc ggtgaggctc actccctccg agagtccagg agcgcccgag cggagaggcg
       61 gcccgggagc aggggggcgg cccccactcc ggccgggtgc ccggcccctg gcccctgcct
      121 gccctctaga tcgccgccgc agccgccgct actgggagtc tgcctgttgc aggacgcact
      181 agccctccct ccatggagtt cggcctgctc agcgaggcag aggcccggag ccctgccctg
      241 tcgctgtcag acgctggcac tccgcacccc cagctcccag agcacggctg caagggccag
      301 gagcacagcg actcagaaaa ggcctcggct tcgctgcccg gcggctcccc agaggacggt
      361 tcgctgaaaa agaagcagcg gcggcagcgc acgcacttca ccagccagca gctacaggag
      421 ctagaggcga ccttccagag gaaccgctac cccgacatga gcacgcgcga ggagatcgcc
      481 gtgtggacca acctcaccga ggcccgcgtg cgggtgtggt tcaagaaccg gcgcgccaaa
      541 tggcggaagc gcgagcgcag ccagcaggcc gagctatgca aaggcagctt cgcggcgccg
      601 ctcggggggc tggtgccgcc ctacgaggag gtgtaccccg gctactcgta cggcaactgg
      661 ccgcccaagg ctcttgcccc gccgctcgcc gccaagacct ttccattcgc cttcaactcg
      721 gtcaacgtgg ggcctctggc ttcgcagccc gtcttctcgc cacccagctc catcgccgcc
      781 tccatggtgc cctccgccgc ggctgccccg ggcaccgtgc cagggcctgg ggccctgcag
      841 ggcctgggcg ggggcccccc cgggctggct ccggccgccg tgtcctccgg ggccgtgtcc
      901 tgcccttatg cctcggccgc cgccgccgcc gcggctgccg cctcttcccc ctacgtctat
      961 cgggacccgt gtaactcgag cctggccagc ctgcggctca aagccaaaca gcacgcctcc
     1021 ttcagctacc ccgctgtgca cgggccgccc ccggcagcca accttagtcc gtgccagtac
     1081 gccgtggaaa ggcccgtatg agcggccccg cccgtagatc atccccgagg gcgggggcaa
     1141 cgattcacag cctccgcgga ctggggtcat tttgactggc ttgctcccgc cccagggtct
     1201 gaaaggggtg tttgggcagc tggggggcac cggctcagga gagggccttc ccctcccagc
     1261 cctgaggggt ggactaggcc ctacacacag accgcgcccc tgggactaaa gccaggaaca
     1321 gggaccagct ccccgggggc caactcaccc ttggcccatc ccgccttctc caggcttccc
     1381 ctccctcgtt ttcaaagata aatgaaataa acgtgcgcgg actgtc
//
