LOCUS       NM_005032               3288 bp    mRNA    linear   PRI 09-FEB-2025
DEFINITION  Homo sapiens plastin 3 (PLS3), transcript variant 1, mRNA.
ACCESSION   NM_005032 XM_005268345 XM_005278219
VERSION     NM_005032.7
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 3288)
  AUTHORS   Mancini,M., Chapurlat,R., Isidor,B., Desjonqueres,M., Couture,G.,
            Guggenbuhl,P., Coutant,R., El Chehadeh,S., Fradin,M., Frazier,A.,
            Goldenberg,A., Guillot,P., Koumakis,E., Mehsen-Cetre,N., Rossi,M.,
            Schaefer,E., Sigaudy,S., Porquet-Bordes,V., Fontanges,E.,
            Letard,P., Edouard,T., Javier,R.M., Cohen-Solal,M.,
            Funck-Brentano,T. and Collet,C.
  TITLE     Early-Onset Osteoporosis: Molecular Analysis in Large Cohort and
            Focus on the PLS3 Gene
  JOURNAL   Calcif Tissue Int 115 (5), 591-598 (2024)
   PUBMED   39316135
  REMARK    GeneRIF: Early-Onset Osteoporosis: Molecular Analysis in Large
            Cohort and Focus on the PLS3 Gene.
REFERENCE   2  (bases 1 to 3288)
  AUTHORS   Park,S.Y., Choi,H., Choi,S.M., Wang,S., Shim,S., Jun,W., Lee,J. and
            Chung,J.W.
  TITLE     T-plastin contributes to epithelial-mesenchymal transition in human
            lung cancer cells through FAK/AKT/Slug axis signaling pathway
  JOURNAL   BMB Rep 57 (6), 305-310 (2024)
   PUBMED   38835117
  REMARK    GeneRIF: T-plastin contributes to epithelial-mesenchymal transition
            in human lung cancer cells through FAK/AKT/Slug axis signaling
            pathway.
REFERENCE   3  (bases 1 to 3288)
  AUTHORS   Costa,A., Martins,A., Machado,C., Lundberg,E., Nilsson,O., Wang,F.,
            Costantini,A., Tournis,S., Hoppner,J., Grasemann,C. and Makitie,O.
  TITLE     PLS3 Mutations in X-Linked Osteoporosis: Clinical and Genetic
            Features in Five New Families
  JOURNAL   Calcif Tissue Int 114 (2), 157-170 (2024)
   PUBMED   38043102
  REMARK    GeneRIF: PLS3 Mutations in X-Linked Osteoporosis: Clinical and
            Genetic Features in Five New Families.
REFERENCE   4  (bases 1 to 3288)
  AUTHORS   Wang,D., Liu,J., Chen,Y., Jia,L., Zhao,K. and He,X.
  TITLE     PLS3 promotes papillary thyroid carcinoma progression by activating
            the Notch signaling pathway
  JOURNAL   Environ Toxicol 39 (2), 539-550 (2024)
   PUBMED   37347555
  REMARK    GeneRIF: PLS3 promotes papillary thyroid carcinoma progression by
            activating the Notch signaling pathway.
            Erratum:[Environ Toxicol. 2024 Aug;39(8):4261. doi:
            10.1002/tox.24288.. PMID: 38659362]
REFERENCE   5  (bases 1 to 3288)
  AUTHORS   Petit,F., Longoni,M., Wells,J., Maser,R.S., Bogenschutz,E.L.,
            Dysart,M.J., Contreras,H.T.M., Frenois,F., Pober,B.R., Clark,R.D.,
            Giampietro,P.F., Ropers,H.H., Hu,H., Loscertales,M., Wagner,R.,
            Ai,X., Brand,H., Jourdain,A.S., Delrue,M.A., Gilbert-Dussardier,B.,
            Devisme,L., Keren,B., McCulley,D.J., Qiao,L., Hernan,R., Wynn,J.,
            Scott,T.M., Calame,D.G., Coban-Akdemir,Z., Hernandez,P.,
            Hernandez-Garcia,A., Yonath,H., Lupski,J.R., Shen,Y., Chung,W.K.,
            Scott,D.A., Bult,C.J., Donahoe,P.K. and High,F.A.
  TITLE     PLS3 missense variants affecting the actin-binding domains cause
            X-linked congenital diaphragmatic hernia and body-wall defects
  JOURNAL   Am J Hum Genet 110 (10), 1787-1803 (2023)
   PUBMED   37751738
  REMARK    GeneRIF: PLS3 missense variants affecting the actin-binding domains
            cause X-linked congenital diaphragmatic hernia and body-wall
            defects.
REFERENCE   6  (bases 1 to 3288)
  AUTHORS   Arpin,M., Friederich,E., Algrain,M., Vernel,F. and Louvard,D.
  TITLE     Functional differences between L- and T-plastin isoforms
  JOURNAL   J Cell Biol 127 (6 Pt 2), 1995-2008 (1994)
   PUBMED   7806577
REFERENCE   7  (bases 1 to 3288)
  AUTHORS   Lin,C.S., Park,T., Chen,Z.P. and Leavitt,J.
  TITLE     Human plastin genes. Comparative gene structure, chromosome
            location, and differential expression in normal and neoplastic
            cells
  JOURNAL   J Biol Chem 268 (4), 2781-2792 (1993)
   PUBMED   8428952
REFERENCE   8  (bases 1 to 3288)
  AUTHORS   Lin,C.S., Aebersold,R.H. and Leavitt,J.
  TITLE     Correction of the N-terminal sequences of the human plastin
            isoforms by using anchored polymerase chain reaction:
            identification of a potential calcium-binding domain
  JOURNAL   Mol Cell Biol 10 (4), 1818-1821 (1990)
   PUBMED   2378651
REFERENCE   9  (bases 1 to 3288)
  AUTHORS   Lin,C.S., Aebersold,R.H., Kent,S.B., Varma,M. and Leavitt,J.
  TITLE     Molecular cloning and characterization of plastin, a human
            leukocyte protein expressed in transformed human fibroblasts
  JOURNAL   Mol Cell Biol 8 (11), 4659-4668 (1988)
   PUBMED   3211125
REFERENCE   10 (bases 1 to 3288)
  AUTHORS   Goldstein,D., Djeu,J., Latter,G., Burbeck,S. and Leavitt,J.
  TITLE     Abundant synthesis of the transformation-induced protein of
            neoplastic human fibroblasts, plastin, in normal lymphocytes
  JOURNAL   Cancer Res 45 (11 Pt 2), 5643-5647 (1985)
   PUBMED   4053036
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC320695.1, M34427.1,
            AK312391.1, BC039049.1, AA704125.1 and BM979335.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_005032.6.
            
            Summary: Plastins are a family of actin-binding proteins that are
            conserved throughout eukaryote evolution and expressed in most
            tissues of higher eukaryotes. In humans, two ubiquitous plastin
            isoforms (L and T) have been identified. Plastin 1 (otherwise known
            as Fimbrin) is a third distinct plastin isoform which is
            specifically expressed at high levels in the small intestine. The L
            isoform is expressed only in hemopoietic cell lineages, while the T
            isoform has been found in all other normal cells of solid tissues
            that have replicative potential (fibroblasts, endothelial cells,
            epithelial cells, melanocytes, etc.). The C-terminal 570 amino
            acids of the T-plastin and L-plastin proteins are 83% identical. It
            contains a potential calcium-binding site near the N terminus.
            Alternate splicing results in multiple transcript
            variants.[provided by RefSeq, Feb 2010].
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (1). Variants 1 and 2 encode the same isoform.
            
            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 :: SRR1803611.205169.1,
                                           SRR1660803.12379.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000355899.8/ ENSP00000348163.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-40                DC320695.1         325-364
            41-524              M34427.1           33-516
            525-1678            AK312391.1         523-1676
            1679-3099           BC039049.1         1617-3037
            3100-3284           AA704125.1         1-185               c
            3285-3288           BM979335.1         15-18               c
FEATURES             Location/Qualifiers
     source          1..3288
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq23"
     gene            1..3288
                     /gene="PLS3"
                     /gene_synonym="BMND18; DIH5; T-plastin"
                     /note="plastin 3"
                     /db_xref="GeneID:5358"
                     /db_xref="HGNC:HGNC:9091"
                     /db_xref="MIM:300131"
     exon            1..87
                     /gene="PLS3"
                     /gene_synonym="BMND18; DIH5; T-plastin"
                     /inference="alignment:Splign:2.1.0"
     exon            88..168
                     /gene="PLS3"
                     /gene_synonym="BMND18; DIH5; T-plastin"
                     /inference="alignment:Splign:2.1.0"
     CDS             96..1988
                     /gene="PLS3"
                     /gene_synonym="BMND18; DIH5; T-plastin"
                     /note="isoform 1 is encoded by transcript variant 1; T
                     fimbrin; T plastin"
                     /codon_start=1
                     /product="plastin-3 isoform 1"
                     /protein_id="NP_005023.2"
                     /db_xref="CCDS:CCDS14568.1"
                     /db_xref="GeneID:5358"
                     /db_xref="HGNC:HGNC:9091"
                     /db_xref="MIM:300131"
                     /translation="MDEMATTQISKDELDELKEAFAKVDLNSNGFICDYELHELFKEA
                     NMPLPGYKVREIIQKLMLDGDRNKDGKISFDEFVYIFQEVKSSDIAKTFRKAINRKEG
                     ICALGGTSELSSEGTQHSYSEEEKYAFVNWINKALENDPDCRHVIPMNPNTDDLFKAV
                     GDGIVLCKMINLSVPDTIDERAINKKKLTPFIIQENLNLALNSASAIGCHVVNIGAED
                     LRAGKPHLVLGLLWQIIKIGLFADIELSRNEALAALLRDGETLEELMKLSPEELLLRW
                     ANFHLENSGWQKINNFSADIKDSKAYFHLLNQIAPKGQKEGEPRIDINMSGFNETDDL
                     KRAESMLQQADKLGCRQFVTPADVVSGNPKLNLAFVANLFNKYPALTKPENQDIDWTL
                     LEGETREERTFRNWMNSLGVNPHVNHLYADLQDALVILQLYERIKVPVDWSKVNKPPY
                     PKLGANMKKLENCNYAVELGKHPAKFSLVGIGGQDLNDGNQTLTLALVWQLMRRYTLN
                     VLEDLGDGQKANDDIIVNWVNRTLSEAGKSTSIQSFKDKTISSSLAVVDLIDAIQPGC
                     INYDLVKSGNLTEDDKHNNAKYAVSMARRIGARVYALPEDLVEVKPKMVMTVFACLMG
                     RGMKRV"
     exon            169..332
                     /gene="PLS3"
                     /gene_synonym="BMND18; DIH5; T-plastin"
                     /inference="alignment:Splign:2.1.0"
     exon            333..462
                     /gene="PLS3"
                     /gene_synonym="BMND18; DIH5; T-plastin"
                     /inference="alignment:Splign:2.1.0"
     exon            463..595
                     /gene="PLS3"
                     /gene_synonym="BMND18; DIH5; T-plastin"
                     /inference="alignment:Splign:2.1.0"
     exon            596..677
                     /gene="PLS3"
                     /gene_synonym="BMND18; DIH5; T-plastin"
                     /inference="alignment:Splign:2.1.0"
     exon            678..843
                     /gene="PLS3"
                     /gene_synonym="BMND18; DIH5; T-plastin"
                     /inference="alignment:Splign:2.1.0"
     exon            844..986
                     /gene="PLS3"
                     /gene_synonym="BMND18; DIH5; T-plastin"
                     /inference="alignment:Splign:2.1.0"
     exon            987..1082
                     /gene="PLS3"
                     /gene_synonym="BMND18; DIH5; T-plastin"
                     /inference="alignment:Splign:2.1.0"
     exon            1083..1278
                     /gene="PLS3"
                     /gene_synonym="BMND18; DIH5; T-plastin"
                     /inference="alignment:Splign:2.1.0"
     exon            1279..1357
                     /gene="PLS3"
                     /gene_synonym="BMND18; DIH5; T-plastin"
                     /inference="alignment:Splign:2.1.0"
     exon            1358..1472
                     /gene="PLS3"
                     /gene_synonym="BMND18; DIH5; T-plastin"
                     /inference="alignment:Splign:2.1.0"
     exon            1473..1606
                     /gene="PLS3"
                     /gene_synonym="BMND18; DIH5; T-plastin"
                     /inference="alignment:Splign:2.1.0"
     exon            1607..1730
                     /gene="PLS3"
                     /gene_synonym="BMND18; DIH5; T-plastin"
                     /inference="alignment:Splign:2.1.0"
     exon            1731..1855
                     /gene="PLS3"
                     /gene_synonym="BMND18; DIH5; T-plastin"
                     /inference="alignment:Splign:2.1.0"
     exon            1856..3288
                     /gene="PLS3"
                     /gene_synonym="BMND18; DIH5; T-plastin"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3078..3083
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PLS3"
                     /gene_synonym="BMND18; DIH5; T-plastin"
                     /note="hexamer: AATAAA"
     polyA_site      3099
                     /gene="PLS3"
                     /gene_synonym="BMND18; DIH5; T-plastin"
                     /note="major polyA site"
     regulatory      3259..3264
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PLS3"
                     /gene_synonym="BMND18; DIH5; T-plastin"
                     /note="hexamer: AGTAAA"
     polyA_site      3288
                     /gene="PLS3"
                     /gene_synonym="BMND18; DIH5; T-plastin"
ORIGIN      
        1 acagctgcaa agattccgag gtgcagaagt tgtctgagtg ggttggtcgg cggcagtcgg
       61 gccagaccca ggactctgcg actttacatc tttaaatgga tgagatggct accactcaga
      121 tttccaaaga tgagcttgat gaactcaaag aggcctttgc aaaagttgat ctcaacagca
      181 acggattcat ttgtgactat gaacttcatg agctcttcaa ggaagctaat atgccattac
      241 caggatataa agtgagagaa attattcaga aactcatgct ggatggtgac aggaataaag
      301 atgggaaaat aagttttgac gaatttgttt atatttttca agaggtaaaa agtagtgata
      361 ttgccaagac cttccgcaaa gcaatcaaca ggaaagaagg tatttgtgct ctgggtggaa
      421 cttcagagtt gtccagcgaa ggaacacagc attcttactc agaggaagaa aaatatgctt
      481 ttgttaactg gataaacaaa gctttggaaa atgatcctga ttgtagacat gttataccaa
      541 tgaaccctaa caccgatgac ctgttcaaag ctgttggtga tggaattgtg ctttgtaaaa
      601 tgattaacct ttcagttcct gataccattg atgaaagagc aatcaacaag aagaaactta
      661 cacccttcat cattcaggaa aacttgaact tggcactgaa ctctgcttct gccattgggt
      721 gtcatgttgt gaacattggt gcagaagatt tgagggctgg gaaacctcat ctggttttgg
      781 gactgctttg gcagatcatt aagatcggtt tgttcgctga cattgaatta agcaggaatg
      841 aagccttggc tgctttactc cgagatggtg agactttgga ggaacttatg aaattgtctc
      901 cagaagagct tctgcttaga tgggcaaact ttcatttgga aaactcgggc tggcaaaaaa
      961 ttaacaactt tagtgctgac atcaaggatt ccaaagccta tttccatctt ctcaatcaaa
     1021 tcgcaccaaa aggacaaaag gaaggtgaac cacggataga tattaacatg tcaggtttca
     1081 atgaaacaga tgatttgaag agagctgaga gtatgcttca acaagcagat aaattaggtt
     1141 gcagacagtt tgttacccct gctgatgttg tcagtggaaa ccccaaactc aacttagctt
     1201 tcgtggctaa cctgtttaat aaatacccag cactaactaa gccagagaac caggatattg
     1261 actggactct attagaagga gaaactcgtg aagaaagaac cttccgtaac tggatgaact
     1321 ctcttggtgt caatcctcac gtaaaccatc tctatgctga cctgcaagat gccctggtaa
     1381 tcttacagtt atatgaacga attaaagttc ctgttgactg gagtaaggtt aataaacctc
     1441 catacccgaa actgggagcc aacatgaaaa agctagaaaa ctgcaactat gctgttgaat
     1501 tagggaagca tcctgctaaa ttctccctgg ttggcattgg agggcaagac ctgaatgatg
     1561 ggaaccaaac cctgacttta gctttagtct ggcagctgat gagaagatat accctcaatg
     1621 tcctggaaga tcttggagat ggtcagaaag ccaatgacga catcattgtg aactgggtga
     1681 acagaacgtt gagtgaagct ggaaaatcaa cttccattca gagttttaag gacaagacga
     1741 tcagctccag tttggcagtt gtggatttaa ttgatgccat ccagccaggc tgtataaact
     1801 atgaccttgt gaagagtggc aatctaacag aagatgacaa gcacaataat gccaagtatg
     1861 cagtgtcaat ggctagaaga atcggagcca gagtgtatgc tctccctgaa gaccttgtgg
     1921 aagtaaagcc caagatggtc atgactgtgt ttgcatgttt gatgggcagg ggaatgaaga
     1981 gagtgtaaaa taaccaatct gaataaaaca gccatgctcc caggtgcatg attcgcaggt
     2041 cagctatttc caggtgaagt gcttatggct taaggaactc ttggccattc aaaggacttt
     2101 tcattttgat taacaggact agcttatcat gagagccctc aggggaaagg gtttaagaaa
     2161 aacaactcct ctttcccata gtcagagttg aatttgtcag gcacgcctga aatgtgctca
     2221 tagccaaaac attttactct ctcctcctag aatgctgccc ttgacatttc ccattgctgt
     2281 atgttatttc ttgctctgtt atcttttgcc ctcttagaat gtccctctct tgggacttgc
     2341 ttagatgatg ggatatgaat attattagac agtaattttg ctttccatcc agtatgctag
     2401 ttcttattcg agaactatgg tcagagcgta tttggatatg agtatccttt gcttatcttt
     2461 gtagtactga aaatttgccg aagtaactgg ctgtgcagaa tgtaatagaa gcttttctta
     2521 ttcttttatt cttaagatca gtatcttttt acagtattct ttctacatga tccttttttg
     2581 tacatttaag aatattttga ttatattaaa caagactgct gattttgcta ctttttttaa
     2641 ggggtcttca agtaagtaaa acatacatcg tagctagaag aaaaatgtac cttaaatttg
     2701 catcttccct ctcataccca agctgtaaac aattgaaata ttttgtctta aatcacttgg
     2761 ttcaatacat gcttatttgt tttaaaacct gtatcatcaa actctctctc taaatttaaa
     2821 atgctgttga atatgatact tttgaggaga gagtgtgctc agaacttaga cgggatttgg
     2881 taggccaagt atgctaagtg tacaatatat tttttaattt tacacctgaa acaaagaaat
     2941 gtggtcacta aaaataaaag tatatatgta ggaattaatg tactcttgct ttgtcaagct
     3001 gtttgctata gtttccaagg tattatgtta ctctaactct gaaaagtgat gtaatctggt
     3061 agcaatgtag tagttcaaat aaaggcattt acataataat tagtctgttc ttcatgcttt
     3121 tgtctcttag gaagtatgcc aatgtttgtc aggatttttt tctttttgtt tttctgatgt
     3181 attctgtaaa atggtgtttg ttaaatttga gttttgggag ctgaattaga ggtactgaat
     3241 taaggacagt acaaatgaag taaaaaggtt ttctccaatt taccaaaa
//
