LOCUS       NM_002653               2337 bp    mRNA    linear   PRI 09-FEB-2025
DEFINITION  Homo sapiens paired like homeodomain 1 (PITX1), mRNA.
ACCESSION   NM_002653
VERSION     NM_002653.5
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 2337)
  AUTHORS   Zhang,Y., Chen,Y., Chen,C., Guo,H., Zhou,C., Wang,H. and Liu,Z.
  TITLE     PITX1 suppresses osteosarcoma metastasis through exosomal
            LINC00662-mediated M2 macrophage polarization
  JOURNAL   Clin Exp Metastasis 40 (1), 79-93 (2023)
   PUBMED   36334221
  REMARK    GeneRIF: PITX1 suppresses osteosarcoma metastasis through exosomal
            LINC00662-mediated M2 macrophage polarization.
            Erratum:[Clin Exp Metastasis. 2024 Feb;41(1):79-80. doi:
            10.1007/s10585-023-10247-1.. PMID: 38064129]
REFERENCE   2  (bases 1 to 2337)
  AUTHORS   Bianco,A.M., Ragusa,G., Di Carlo,V., Faletra,F., Di Stazio,M.,
            Racano,C., Trisolino,G., Cappellani,S., De Pellegrin,M.,
            d'Addetta,I., Carluccio,G., Monforte,S., Andreacchio,A., Dibello,D.
            and d'Adamo,A.P.
  TITLE     What Is the Exact Contribution of PITX1 and TBX4 Genes in Clubfoot
            Development? An Italian Study
  JOURNAL   Genes (Basel) 13 (11), 1958 (2022)
   PUBMED   36360195
  REMARK    GeneRIF: What Is the Exact Contribution of PITX1 and TBX4 Genes in
            Clubfoot Development? An Italian Study.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2337)
  AUTHORS   Zhang,Y., Zhang,Z., Zhang,W., Hu,H. and Bao,G.
  TITLE     Upregulated Transcription Factor PITX1 Predicts Poor Prognosis in
            Kidney Renal Clear Cell Carcinoma-Based Bioinformatic Analysis and
            Experimental Verification
  JOURNAL   Dis Markers 2021, 7694239 (2021)
   PUBMED   34868397
  REMARK    GeneRIF: Upregulated Transcription Factor PITX1 Predicts Poor
            Prognosis in Kidney Renal Clear Cell Carcinoma-Based Bioinformatic
            Analysis and Experimental Verification.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2337)
  AUTHORS   Ohira,T., Nakagawa,S., Takeshita,J., Aburatani,H. and Kugoh,H.
  TITLE     PITX1 inhibits the growth and proliferation of melanoma cells
            through regulation of SOX family genes
  JOURNAL   Sci Rep 11 (1), 18405 (2021)
   PUBMED   34526609
  REMARK    GeneRIF: PITX1 inhibits the growth and proliferation of melanoma
            cells through regulation of SOX family genes.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2337)
  AUTHORS   Li,Y., Jaiswal,S.K., Kaur,R., Alsaadi,D., Liang,X., Drews,F.,
            DeLoia,J.A., Krivak,T., Petrykowska,H.M., Gotea,V., Welch,L. and
            Elnitski,L.
  TITLE     Differential gene expression identifies a transcriptional
            regulatory network involving ER-alpha and PITX1 in invasive
            epithelial ovarian cancer
  JOURNAL   BMC Cancer 21 (1), 768 (2021)
   PUBMED   34215221
  REMARK    GeneRIF: Differential gene expression identifies a transcriptional
            regulatory network involving ER-alpha and PITX1 in invasive
            epithelial ovarian cancer.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2337)
  AUTHORS   Poulin,G., Turgeon,B. and Drouin,J.
  TITLE     NeuroD1/beta2 contributes to cell-specific transcription of the
            proopiomelanocortin gene
  JOURNAL   Mol Cell Biol 17 (11), 6673-6682 (1997)
   PUBMED   9343431
REFERENCE   7  (bases 1 to 2337)
  AUTHORS   Shang,J., Luo,Y. and Clayton,D.A.
  TITLE     Backfoot is a novel homeobox gene expressed in the mesenchyme of
            developing hind limb
  JOURNAL   Dev Dyn 209 (2), 242-253 (1997)
   PUBMED   9186059
REFERENCE   8  (bases 1 to 2337)
  AUTHORS   Shang,J., Li,X., Ring,H.Z., Clayton,D.A. and Francke,U.
  TITLE     Backfoot, a novel homeobox gene, maps to human chromosome 5 (BFT)
            and mouse chromosome 13 (Bft)
  JOURNAL   Genomics 40 (1), 108-113 (1997)
   PUBMED   9070926
REFERENCE   9  (bases 1 to 2337)
  AUTHORS   Crawford,M.J., Lanctot,C., Tremblay,J.J., Jenkins,N., Gilbert,D.,
            Copeland,N., Beatty,B. and Drouin,J.
  TITLE     Human and murine PTX1/Ptx1 gene maps to the region for Treacher
            Collins syndrome
  JOURNAL   Mamm Genome 8 (11), 841-845 (1997)
   PUBMED   9337397
REFERENCE   10 (bases 1 to 2337)
  AUTHORS   Szeto,D.P., Ryan,A.K., O'Connell,S.M. and Rosenfeld,M.G.
  TITLE     P-OTX: a PIT-1-interacting homeodomain factor expressed during
            anterior pituitary gland development
  JOURNAL   Proc Natl Acad Sci U S A 93 (15), 7706-7710 (1996)
   PUBMED   8755540
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BX362641.2, BC009412.1 and
            AC008406.7.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_002653.4.
            
            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 are involved in organ development and
            left-right asymmetry. This protein acts as a transcriptional
            regulator involved in basal and hormone-regulated activity of
            prolactin. [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 :: U70370.1, BC009412.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2467146, SAMN03465412
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000265340.12/ ENSP00000265340.6
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-19                BX362641.2         47-65
            20-1495             BC009412.1         1-1476
            1496-2337           AC008406.7         17486-18327         c
FEATURES             Location/Qualifiers
     source          1..2337
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q31.1"
     gene            1..2337
                     /gene="PITX1"
                     /gene_synonym="BFT; CCF; LBNBG; POTX; PTX1"
                     /note="paired like homeodomain 1"
                     /db_xref="GeneID:5307"
                     /db_xref="HGNC:HGNC:9004"
                     /db_xref="MIM:602149"
     exon            1..516
                     /gene="PITX1"
                     /gene_synonym="BFT; CCF; LBNBG; POTX; PTX1"
                     /inference="alignment:Splign:2.1.0"
     CDS             348..1292
                     /gene="PITX1"
                     /gene_synonym="BFT; CCF; LBNBG; POTX; PTX1"
                     /note="paired-like homeodomain transcription factor 1;
                     pituitary homeo box 1; pituitary otx-related factor;
                     hindlimb expressed homeobox protein backfoot; homeobox
                     protein PITX1"
                     /codon_start=1
                     /product="pituitary homeobox 1"
                     /protein_id="NP_002644.4"
                     /db_xref="CCDS:CCDS4182.1"
                     /db_xref="GeneID:5307"
                     /db_xref="HGNC:HGNC:9004"
                     /db_xref="MIM:602149"
                     /translation="MDAFKGGMSLERLPEGLRPPPPPPHDMGPAFHLARPADPREPLE
                     NSASESSDTELPEKERGGEPKGPEDSGAGGTGCGGADDPAKKKKQRRQRTHFTSQQLQ
                     ELEATFQRNRYPDMSMREEIAVWTNLTEPRVRVWFKNRRAKWRKRERNQQLDLCKGGY
                     VPQFSGLVQPYEDVYAAGYSYNNWAAKSLAPAPLSTKSFTFFNSMSPLSSQSMFSAPS
                     SISSMTMPSSMGPGAVPGMPNSGLNNINNLTGSSLNSAMSPGACPYGTPASPYSVYRD
                     TCNSSLASLRLKSKQHSSFGYGGLQGPASGLNACQYNS"
     exon            517..749
                     /gene="PITX1"
                     /gene_synonym="BFT; CCF; LBNBG; POTX; PTX1"
                     /inference="alignment:Splign:2.1.0"
     exon            750..2337
                     /gene="PITX1"
                     /gene_synonym="BFT; CCF; LBNBG; POTX; PTX1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2271..2276
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PITX1"
                     /gene_synonym="BFT; CCF; LBNBG; POTX; PTX1"
                     /note="hexamer: AATAAA"
     polyA_site      2290
                     /gene="PITX1"
                     /gene_synonym="BFT; CCF; LBNBG; POTX; PTX1"
                     /note="major polyA site"
     regulatory      2308..2313
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PITX1"
                     /gene_synonym="BFT; CCF; LBNBG; POTX; PTX1"
                     /note="hexamer: ATTAAA"
     polyA_site      2337
                     /gene="PITX1"
                     /gene_synonym="BFT; CCF; LBNBG; POTX; PTX1"
                     /note="major polyA site"
ORIGIN      
        1 aagacagact ctgccggcgc cgtccggagc cttagaaacc ggccccggat cgcgagccgg
       61 agccggagcc ggagccgggg ccggccgggc tgctgaggcc cgagcggcag gagcgcagcg
      121 cggagcgctg agccaggcgc ccagtcgcga gaagctgccg ccgcctctgc ccgcccggcg
      181 ccgcagcccc gggcggtcca tggggcgggc acggcgtcgc tgcaggcgcc ggcagccctg
      241 gagggcagcc gcttaggcgc tgcgctcttg tccccgcagg tcgcagccag ggcggcgggg
      301 cgcgcccagc cccggcccct ggagcgcccg ccgcggtccc cacctccatg gacgccttca
      361 aggggggcat gagcctggag cggctgccgg aggggctccg gccgccgccg ccgccacccc
      421 atgacatggg gcccgccttc cacctggccc ggcccgccga cccccgcgag ccgctcgaga
      481 actccgccag cgagtcgtct gacacggagc tgccagagaa ggagcgcggc ggggaaccca
      541 aggggcccga ggacagtggt gcgggaggca cgggctgcgg cggcgcagac gacccagcca
      601 agaagaagaa gcagcggcgg caacgtacgc acttcacaag ccagcagttg caagagctag
      661 aggccacgtt ccagaggaac cgctaccccg acatgagcat gagggaggag atcgccgtgt
      721 ggaccaacct caccgagccg cgcgtgcggg tctggttcaa gaaccggcga gccaagtggc
      781 gtaagcgcga gcgtaaccag cagctggacc tgtgcaaggg tggctacgtg ccgcagttca
      841 gcggcctagt gcagccctac gaggacgtgt acgccgccgg ctactcctac aacaactggg
      901 ccgccaagag cctggcgcca gcgccgctct ccaccaagag cttcaccttc ttcaactcca
      961 tgagcccgct gtcgtcgcag tccatgttct cagcacccag ctccatctcc tccatgacca
     1021 tgccgtccag catgggccca ggcgccgtgc ctggcatgcc caactcgggc ctcaacaaca
     1081 tcaacaacct caccggctcc tcgctcaact cggccatgtc gccgggcgct tgcccgtacg
     1141 gcactcccgc ctcgccctac agcgtctacc gggacacgtg caactcgagc ctagccagcc
     1201 tgcggctcaa gtccaaacag cactcgtcgt ttggctacgg cggcctgcag ggcccggcct
     1261 cgggcctcaa cgcgtgccag tacaacagct gaccgccccg ccgcaccacg cgggccggcg
     1321 gccggagcgg ggaagggcgc gggcgcgggc gcggaggacg cacgcggggc cccggctcgc
     1381 aagccccagc tcaccgcgcc gcggacctca cacctgcgca gccccctcct cccacttccc
     1441 actccgggtt ggttttgtgt ttgcttttcc ggaccccact ctgccctcca aaaagacaaa
     1501 aaaaaaaaaa aaaaaaaaaa agcaaaaaga cgtcggagaa aagtgccgcg aaaaaatgga
     1561 tgagttgcaa tttctctcgg gatggcgcgg gtggtgtgtg tgttcccacg ggccccggag
     1621 gcccactccg cggagggcac gcggcgcggt aggcgagcgc cgaggcccag cggccggggg
     1681 aggacgacct cgtatcccgc gtccccgccg cgctggatcc ggactgagtg gccgggcctg
     1741 cggactggat gtgcggggcc tggacttgcc taggatttcc cgaccccgta caaaccaagt
     1801 tgccctctcc gagctaggcc cggccgagag cgccttagct cgagtcggat ccgtgttggg
     1861 gcgggcgttg ggtttggggg gacggtgccc ccagcccagg atcgggcact cagtggagcc
     1921 gcacacggcc ccggcgcgcc tggtagagcc tcgctggccc cgcgccccgg agccctatat
     1981 taaggccacg gagcgacagc gggcagtgcg ggcctggcgg gaggtggggg aggtccatct
     2041 cagaacaccc cagccttgag cttagctgca ggcccaggcc ctctgctctg ctcccgggct
     2101 aggaggtggc cctctgtctg ggcgaacagc cccctcctca ccgcccgccg tgcaagagtc
     2161 gagccggcag agcaaggggc gcggccccag ggccctgcgc ccactttgca cacccgctct
     2221 ccggcccgcg cccctgttta cagcgtccct gtgtatgttg gactgactgt aataaatctg
     2281 tctatatcga cttgtccatg tacgtctatt aaaaccatag tccgagcgtg ctaagca
//
