LOCUS       NM_022716               4061 bp    mRNA    linear   PRI 11-DEC-2024
DEFINITION  Homo sapiens paired related homeobox 1 (PRRX1), transcript variant
            pmx-1b, mRNA.
ACCESSION   NM_022716
VERSION     NM_022716.4
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 4061)
  AUTHORS   Du,L., Lu,Y., Wang,J., Zheng,Y., Li,H., Liu,Y., Wu,X., Zhou,J.,
            Wang,L., He,L., Shi,J., Xu,L., Li,X., Lu,Q. and Yin,X.
  TITLE     LncRNA KIFAP3-5:1 inhibits epithelial-mesenchymal transition of
            renal tubular cell through PRRX1 in diabetic nephropathy
  JOURNAL   Cell Biol Toxicol 40 (1), 47 (2024)
   PUBMED   38869718
  REMARK    GeneRIF: LncRNA KIFAP3-5:1 inhibits epithelial-mesenchymal
            transition of renal tubular cell through PRRX1 in diabetic
            nephropathy.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 4061)
  AUTHORS   Tooze,R.S., Miller,K.A., Swagemakers,S.M.A., Calpena,E.,
            McGowan,S.J., Boute,O., Collet,C., Johnson,D., Laffargue,F., de
            Leeuw,N., Morton,J.V., Noons,P., Ockeloen,C.W., Phipps,J.M.,
            Tan,T.Y., Timberlake,A.T., Vanlerberghe,C., Wall,S.A., Weber,A.,
            Wilson,L.C., Zackai,E.H., Mathijssen,I.M.J., Twigg,S.R.F. and
            Wilkie,A.O.M.
  TITLE     Pathogenic variants in the paired-related homeobox 1 gene (PRRX1)
            cause craniosynostosis with incomplete penetrance
  JOURNAL   Genet Med 25 (9), 100883 (2023)
   PUBMED   37154149
  REMARK    GeneRIF: Pathogenic variants in the paired-related homeobox 1 gene
            (PRRX1) cause craniosynostosis with incomplete penetrance.
REFERENCE   3  (bases 1 to 4061)
  AUTHORS   Nygaard,V., Ree,A.H., Dagenborg,V.J., Borresen-Dale,A.L., Edwin,B.,
            Fretland,A.A., Grzyb,K., Haugen,M.H., Maelandsmo,G.M. and
            Flatmark,K.
  TITLE     A PRRX1 Signature Identifies TIM-3 and VISTA as Potential Immune
            Checkpoint Targets in a Subgroup of Microsatellite Stable
            Colorectal Cancer Liver Metastases
  JOURNAL   Cancer Res Commun 3 (2), 235-244 (2023)
   PUBMED   36968142
  REMARK    GeneRIF: A PRRX1 Signature Identifies TIM-3 and VISTA as Potential
            Immune Checkpoint Targets in a Subgroup of Microsatellite Stable
            Colorectal Cancer Liver Metastases.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 4061)
  AUTHORS   He,Y., Zheng,L., Yuan,M., Fan,J., Rong,L., Zhan,T. and Zhang,J.
  TITLE     Exosomal circPRRX1 functions as a ceRNA for miR-596 to promote the
            proliferation, migration, invasion, and reduce radiation
            sensitivity of gastric cancer cells via the upregulation of
            NF-kappaB activating protein
  JOURNAL   Anticancer Drugs 33 (10), 1114-1125 (2022)
   PUBMED   36206097
  REMARK    GeneRIF: Exosomal circPRRX1 functions as a ceRNA for miR-596 to
            promote the proliferation, migration, invasion, and reduce
            radiation sensitivity of gastric cancer cells via the upregulation
            of NF-kappaB activating protein.
REFERENCE   5  (bases 1 to 4061)
  AUTHORS   Meng,Z., Chen,Y., Wu,W., Yan,B., Zhang,L., Chen,H., Meng,Y.,
            Liang,Y., Yao,X. and Luo,J.
  TITLE     PRRX1 Is a Novel Prognostic Biomarker and Facilitates Tumor
            Progression Through Epithelial-Mesenchymal Transition in Uveal
            Melanoma
  JOURNAL   Front Immunol 13, 754645 (2022)
   PUBMED   35281030
  REMARK    GeneRIF: PRRX1 Is a Novel Prognostic Biomarker and Facilitates
            Tumor Progression Through Epithelial-Mesenchymal Transition in
            Uveal Melanoma.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 4061)
  AUTHORS   Kataoka,K., Yoshitomo-Nakagawa,K., Shioda,S. and Nishizawa,M.
  TITLE     A set of Hox proteins interact with the Maf oncoprotein to inhibit
            its DNA binding, transactivation, and transforming activities
  JOURNAL   J Biol Chem 276 (1), 819-826 (2001)
   PUBMED   11036080
REFERENCE   7  (bases 1 to 4061)
  AUTHORS   Nakamura,T., Yamazaki,Y., Hatano,Y. and Miura,I.
  TITLE     NUP98 is fused to PMX1 homeobox gene in human acute myelogenous
            leukemia with chromosome translocation t(1;11)(q23;p15)
  JOURNAL   Blood 94 (2), 741-747 (1999)
   PUBMED   10397741
REFERENCE   8  (bases 1 to 4061)
  AUTHORS   Grueneberg,D.A., Henry,R.W., Brauer,A., Novina,C.D., Cheriyath,V.,
            Roy,A.L. and Gilman,M.
  TITLE     A multifunctional DNA-binding protein that promotes the formation
            of serum response factor/homeodomain complexes: identity to TFII-I
  JOURNAL   Genes Dev 11 (19), 2482-2493 (1997)
   PUBMED   9334314
REFERENCE   9  (bases 1 to 4061)
  AUTHORS   Grueneberg,D.A., Simon,K.J., Brennan,K. and Gilman,M.
  TITLE     Sequence-specific targeting of nuclear signal transduction pathways
            by homeodomain proteins
  JOURNAL   Mol Cell Biol 15 (6), 3318-3326 (1995)
   PUBMED   7760827
REFERENCE   10 (bases 1 to 4061)
  AUTHORS   Grueneberg,D.A., Natesan,S., Alexandre,C. and Gilman,M.Z.
  TITLE     Human and Drosophila homeodomain proteins that enhance the
            DNA-binding activity of serum response factor
  JOURNAL   Science 257 (5073), 1089-1095 (1992)
   PUBMED   1509260
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from Z97200.1, BC074993.2,
            AV750422.1 and KF455066.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_022716.3.
            
            Summary: The DNA-associated protein encoded by this gene is a
            member of the paired family of homeobox proteins localized to the
            nucleus. The protein functions as a transcription co-activator,
            enhancing the DNA-binding activity of serum response factor, a
            protein required for the induction of genes by growth and
            differentiation factors. The protein regulates muscle creatine
            kinase, indicating a role in the establishment of diverse
            mesodermal muscle types. Alternative splicing yields two isoforms
            that differ in abundance and expression patterns. [provided by
            RefSeq, Jul 2008].
            
            Transcript Variant: This variant (pmx-1b) encodes the longer
            isoform (pmx-1b).
            
            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 :: SRR1660805.86612.1,
                                           SRR1660809.200219.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000239461.11/ ENSP00000239461.6
            RefSeq Select criteria :: based on conservation, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-41                Z97200.1           115713-115753       c
            42-67               BC074993.2         1-26
            68-69               AV750422.1         329-330
            70-870              BC074993.2         29-829
            871-1116            Z97200.1           43408-43653         c
            1117-1117           KF455066.1         200-200
            1118-4040           Z97200.1           40484-43406         c
            4041-4061           Z97200.1           40463-40483         c
FEATURES             Location/Qualifiers
     source          1..4061
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q24.2"
     gene            1..4061
                     /gene="PRRX1"
                     /gene_synonym="AGOTC; PHOX1; PMX1; PRX-1; PRX1"
                     /note="paired related homeobox 1"
                     /db_xref="GeneID:5396"
                     /db_xref="HGNC:HGNC:9142"
                     /db_xref="MIM:167420"
     exon            1..329
                     /gene="PRRX1"
                     /gene_synonym="AGOTC; PHOX1; PMX1; PRX-1; PRX1"
                     /inference="alignment:Splign:2.1.0"
     CDS             89..826
                     /gene="PRRX1"
                     /gene_synonym="AGOTC; PHOX1; PMX1; PRX-1; PRX1"
                     /note="isoform pmx-1b is encoded by transcript variant
                     pmx-1b; homeobox protein PHOX1"
                     /codon_start=1
                     /product="paired mesoderm homeobox protein 1 isoform
                     pmx-1b"
                     /protein_id="NP_073207.1"
                     /db_xref="CCDS:CCDS1290.1"
                     /db_xref="GeneID:5396"
                     /db_xref="HGNC:HGNC:9142"
                     /db_xref="MIM:167420"
                     /translation="MTSSYGHVLERQPALGGRLDSPGNLDTLQAKKNFSVSHLLDLEE
                     AGDMVAAQADENVGEAGRSLLESPGLTSGSDTPQQDNDQLNSEEKKKRKQRRNRTTFN
                     SSQLQALERVFERTHYPDAFVREDLARRVNLTEARVQVWFQNRRAKFRRNERAMLANK
                     NASLLKSYSGDVTAVEQPIVPRPAPRPTDYLSWGTASPYSAMATYSATCANNSPAQGI
                     NMANSIANLRLKAKEYSLQRNQVPTVN"
     exon            330..505
                     /gene="PRRX1"
                     /gene_synonym="AGOTC; PHOX1; PMX1; PRX-1; PRX1"
                     /inference="alignment:Splign:2.1.0"
     exon            506..687
                     /gene="PRRX1"
                     /gene_synonym="AGOTC; PHOX1; PMX1; PRX-1; PRX1"
                     /inference="alignment:Splign:2.1.0"
     exon            688..4061
                     /gene="PRRX1"
                     /gene_synonym="AGOTC; PHOX1; PMX1; PRX-1; PRX1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4018..4023
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PRRX1"
                     /gene_synonym="AGOTC; PHOX1; PMX1; PRX-1; PRX1"
                     /note="hexamer: AATAAA"
     regulatory      4024..4029
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PRRX1"
                     /gene_synonym="AGOTC; PHOX1; PMX1; PRX-1; PRX1"
                     /note="hexamer: AAGAAA"
     polyA_site      4040
                     /gene="PRRX1"
                     /gene_synonym="AGOTC; PHOX1; PMX1; PRX-1; PRX1"
                     /note="major polyA site"
     polyA_site      4061
                     /gene="PRRX1"
                     /gene_synonym="AGOTC; PHOX1; PMX1; PRX-1; PRX1"
ORIGIN      
        1 actcggctcc tctcccccct cgcgcccaca gcgtttggtg ttgattcgag cgggaagagg
       61 ggggtgggtg ggatcggtgg gggagaccat gacctccagc tacgggcacg ttctggagcg
      121 gcaaccggcg ctgggcggcc gcttggacag cccgggcaac ctcgacaccc tgcaggcgaa
      181 aaagaacttc tccgtcagtc acctgctaga cctggaggaa gccggggaca tggtggcggc
      241 acaggcggat gagaacgtgg gcgaggctgg ccggagcctg ctggagtcgc cgggactcac
      301 cagcggcagc gacaccccgc agcaggacaa tgaccagctg aactcagaag aaaaaaagaa
      361 gagaaagcag cgaaggaata ggacaacctt caatagcagc cagctgcagg ctttggagcg
      421 tgtctttgag cggacacact atcctgatgc ttttgtgcga gaagaccttg cccgccgggt
      481 gaacctcacc gaggcgagag tgcaggtgtg gtttcagaac cgaagagcca agttccgcag
      541 gaatgagaga gccatgctag ccaataaaaa cgcttccctc ctcaaatcct actcaggaga
      601 cgtgactgct gtggagcagc ccatcgtacc tcgtcctgct ccgagaccca ccgattatct
      661 ctcctggggg acagcgtctc cgtacagcgc catggctact tattctgcca catgtgccaa
      721 caatagccct gcacagggca tcaacatggc caacagcatt gccaacctga gactgaaggc
      781 caaggaatat agtttacaga ggaaccaggt gccaacagtc aactgaggaa aaaaaataat
      841 taaacaggcc taagaagaaa tcaaaaacca taagacacct atcctgctct gttatttctt
      901 catctgctgg ggggaaaaag taaattacaa acaaacaaac aaagcagaac taaaatattg
      961 ggaccatggc agagaaaagc aggagaggag caaaatgaaa attagttaac aaatgttcct
     1021 cctccctctg ggataccacc accacttgtt tctgtgtgtg tttattttgt ttttctttca
     1081 ttcatgcttt gcttaatgta ctccaggctt cttcagctag gttcagccca cccaccccca
     1141 tgattgtatg aagttttaaa aaaaactaca gcagccaaag aaactatata tatatatata
     1201 tatatatata tccagaatga ttgcctctac tgtcctcatt gacttgtttg aaccttagtg
     1261 ccttaccctg tcctcttccc agttctcttt atagaagctc taggagcttt cgaaaagcca
     1321 aagtctttct gaagaatctg tgctggacag acataattcc ctttctcatt gtctccatct
     1381 ttgttggtca tggtaaggtt tttccatcag cctctgaaaa aatagttgtg cacaacatct
     1441 gctcactgga ctgtctgatc caatgtaatt ggctgcgtct ggctaattct aagcactaaa
     1501 gtctacatct aagctataga tttaagcttg aagctacaga ttatatcact atcaccacca
     1561 cccctcaccc tatgcaatca atcaatcaat catcttaagt taaagatatt tgttgtcttt
     1621 gaatgatttg ctgtcacaga ctatttggta gaagaaatat ttttcacctg agagaggaag
     1681 agaaatttct ctagtaacac aaagagtgag ttctaaaagg catgcccaca tctctttcgt
     1741 gccttaagga tagtgagatg cacacttata tatatactgt atatatttat atatttatat
     1801 atatatttca tatatatata taatattgca agcttaagtt tgcaatttcc caaacaatac
     1861 aaaaagcaaa ttacacaccc tcaccactgt tcttatctct atagtgatga aacattaatt
     1921 agggatcttg ctgcttttct ttttctacac gaagttttca ttaaagccac agaataattg
     1981 atagggcagc tgtttgagaa caggtcccat tttcacatta gggctttaaa tgaattagaa
     2041 actatttgag gctataaaaa tgtccttgag tttggagcct gagctctggt gaaatgctga
     2101 tacatctgat ctatcatggg aattgcagtt agagagagta aggaatacca tttagtcatc
     2161 tatccgttct tcacttagca ggaatatgaa agaaaggcac atgtttaaga ggaataccta
     2221 aaggtttttc taaattccaa catttaaaag gcaattgtgg gctattttta ttttttaata
     2281 ttttgaaata aagtttagtg tctagggctg ggagccagga ctgatcttcc atttcttttt
     2341 ctttgttccc agccatgctt ttgtaacttg ccaggtggac ttgaccaact acattaccat
     2401 gctgtgcctc agtttaccca tttgtaaaat gggattaata atacttacct acctcacagg
     2461 ggtgttgtga ggctctattc atttgctcct ttattctttc ctgtattctc tgtatgtcca
     2521 gcactttgta gccatgggag gaaagggact ataaaagtgt acaatgttaa tggaatgata
     2581 cggtacctga aagccttgtt ttctagtaag aaaatgctac cttgctgtac atacttataa
     2641 ccttgtattt ggaaatgaga aataggttta tattttcaga tctctcaaaa atcacatcat
     2701 ttgaccaaag aataatttaa gacacataga acagattttt ttaatttata ttttcatcct
     2761 gaccagctta gttctaataa tttttagttg tgagtgatta aaaaactttg gatcaatttt
     2821 ggtcaaacat gccaactttg tagtctgagt gacaggcaag gatttttggg tttaagatgc
     2881 acttttagca cacatttgta tttcccttgg catatcagat tgagctaatg gtgatgttat
     2941 ttcaatctaa cagccaccaa tctgaaattg tatttcaaat gttgattctg tagttcttta
     3001 aataataatg aagctcatct tatacatttt gctttcacca attgattcct tcttctttta
     3061 gcccactatt aaaacatttc ttactgaatg gttcatgtag gcttgctgaa cagcacgcat
     3121 tacttgcttc ctgaagagtt cccccattca tccatttgtc ccattagttg ctgtggatta
     3181 tcaagttttg aaggaactgt acatcccaac agactgaaac attctaagtg aaatgagtat
     3241 aatccaagta actggtgaac tttggaggtt tggagcttga agagaatggc taagaagatt
     3301 tgaattatag ggagggaaca gaaatcatac atgaaaaggt tttactgaga aggggaaaac
     3361 cttagataga gggacatgtg aaacaaaatc atttgaaatt ttgattcaga catccatttc
     3421 cagtggcaaa cagcaaagcc tgaacccata aacccaaatg ataggtgaag ttgggtggtt
     3481 ttatccaatg tctcaagcaa gcaatgtctg ggaatatcat agagtaacaa gtgctggtca
     3541 gccaaagaaa cattcactgc tggtgaacca ataccataag catgtattat ctaagcactt
     3601 gatcaagaaa tatacatgtt gtacaagctc tcaattttgt tcatttatta tcaaattttt
     3661 aaaatacaag tttggtatgt gatttggaaa agatgccttc tggatcttaa gccagttgtc
     3721 agtggaggtc ctcagggctg caaatgtcaa gacataaccc tgttcctcac catcatgata
     3781 ccagatacag gtgaatacat aggaactatc tgcctgtgtc ctcaatctcc cttcaaacaa
     3841 gatgctgatt tgtagggtac ttggcaggtt aaattaaacc agaagaggtg acttaataaa
     3901 aaagggaatg acatttaggg tataaagatc tcataagaaa tgtaatatgt aaattatatc
     3961 ttgctttatg ttgtaaaata tacattgttt gcgctagaat agaaatgatt tcttttcaat
     4021 aaaaagaaag aaggactcta ccatgtcttt tgttatatac a
//
