LOCUS       NM_014476               2802 bp    mRNA    linear   PRI 12-OCT-2024
DEFINITION  Homo sapiens PDZ and LIM domain 3 (PDLIM3), transcript variant 1,
            mRNA.
ACCESSION   NM_014476
VERSION     NM_014476.6
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 2802)
  AUTHORS   Hu,X., Chen,M., Ruan,Q., Shi,C., Pan,J. and Luo,L.
  TITLE     Comprehensive Analysis of PDLIM3 Expression Profile, Prognostic
            Value, and Correlations with Immune Infiltrates in Gastric Cancer
  JOURNAL   J Immunol Res 2022, 2039447 (2022)
   PUBMED   35647201
  REMARK    GeneRIF: Comprehensive Analysis of PDLIM3 Expression Profile,
            Prognostic Value, and Correlations with Immune Infiltrates in
            Gastric Cancer.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2802)
  AUTHORS   Wang,D., Fang,J., Lv,J., Pan,Z., Yin,X., Cheng,H. and Guo,X.
  TITLE     Novel polymorphisms in PDLIM3 and PDLIM5 gene encoding Z-line
            proteins increase risk of idiopathic dilated cardiomyopathy
  JOURNAL   J Cell Mol Med 23 (10), 7054-7062 (2019)
   PUBMED   31424159
  REMARK    GeneRIF: Novel polymorphisms in PDLIM3 and PDLIM5 gene encoding
            Z-line proteins increase risk of idiopathic dilated cardiomyopathy.
REFERENCE   3  (bases 1 to 2802)
  AUTHORS   Fragoza,R., Das,J., Wierbowski,S.D., Liang,J., Tran,T.N., Liang,S.,
            Beltran,J.F., Rivera-Erick,C.A., Ye,K., Wang,T.Y., Yao,L., Mort,M.,
            Stenson,P.D., Cooper,D.N., Wei,X., Keinan,A., Schimenti,J.C.,
            Clark,A.G. and Yu,H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2802)
  AUTHORS   Ohsawa,N., Koebis,M., Suo,S., Nishino,I. and Ishiura,S.
  TITLE     Alternative splicing of PDLIM3/ALP, for alpha-actinin-associated
            LIM protein 3, is aberrant in persons with myotonic dystrophy
  JOURNAL   Biochem Biophys Res Commun 409 (1), 64-69 (2011)
   PUBMED   21549096
  REMARK    GeneRIF: two abnormal splicing events for actinin-associated LIM
            protein 3 (PDLIM3/ALP) and fibronectin 1 (FN1) in the skeletal
            muscles of myotonic dystrophy type 1 patients.
REFERENCE   5  (bases 1 to 2802)
  AUTHORS   Klaavuniemi,T., Kelloniemi,A. and Ylanne,J.
  TITLE     The ZASP-like motif in actinin-associated LIM protein is required
            for interaction with the alpha-actinin rod and for targeting to the
            muscle Z-line
  JOURNAL   J Biol Chem 279 (25), 26402-26410 (2004)
   PUBMED   15084604
  REMARK    GeneRIF: ZASP-like motif in actinin-associated LIM protein is
            required for interaction with the alpha-actinin rod and for
            targeting to the muscle Z-line
REFERENCE   6  (bases 1 to 2802)
  AUTHORS   Bouju,S., Pietu,G., Le Cunff,M., Cros,N., Malzac,P.,
            Pellissier,J.F., Pons,F., Leger,J.J., Auffray,C. and Dechesne,C.A.
  TITLE     Exclusion of muscle specific actinin-associated LIM protein (ALP)
            gene from 4q35 facioscapulohumeral muscular dystrophy (FSHD)
            candidate genes
  JOURNAL   Neuromuscul Disord 9 (1), 3-10 (1999)
   PUBMED   10063829
REFERENCE   7  (bases 1 to 2802)
  AUTHORS   Xia,H., Winokur,S.T., Kuo,W.L., Altherr,M.R. and Bredt,D.S.
  TITLE     Actinin-associated LIM protein: identification of a domain
            interaction between PDZ and spectrin-like repeat motifs
  JOURNAL   J Cell Biol 139 (2), 507-515 (1997)
   PUBMED   9334352
REFERENCE   8  (bases 1 to 2802)
  AUTHORS   Tanaka,T., Ogiwara,A., Uchiyama,I., Takagi,T., Yazaki,Y. and
            Nakamura,Y.
  TITLE     Construction of a normalized directionally cloned cDNA library from
            adult heart and analysis of 3040 clones by partial sequencing
  JOURNAL   Genomics 35 (1), 231-235 (1996)
   PUBMED   8661126
REFERENCE   9  (bases 1 to 2802)
  AUTHORS   Pietu,G., Alibert,O., Guichard,V., Lamy,B., Bois,F., Leroy,E.,
            Mariage-Sampson,R., Houlgatte,R., Soularue,P. and Auffray,C.
  TITLE     Novel gene transcripts preferentially expressed in human muscles
            revealed by quantitative hybridization of a high density cDNA array
  JOURNAL   Genome Res 6 (6), 492-503 (1996)
   PUBMED   8828038
REFERENCE   10 (bases 1 to 2802)
  AUTHORS   Cirino,A.L. and Ho,C.
  TITLE     Hypertrophic Cardiomyopathy Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301725
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC106897.5 and AK313253.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Sep 10, 2019 this sequence version replaced NM_014476.5.
            
            Summary: The protein encoded by this gene contains a PDZ domain and
            a LIM domain, indicating that it may be involved in cytoskeletal
            assembly. In support of this, the encoded protein has been shown to
            bind the spectrin-like repeats of alpha-actinin-2 and to colocalize
            with alpha-actinin-2 at the Z lines of skeletal muscle.
            Alternatively spliced transcript variants encoding multiple
            isoforms have been observed for this gene. Aberrant alternative
            splicing of this gene may play a role in myotonic dystrophy.
            [provided by RefSeq, Apr 2012].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (a).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript 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##
            Transcript exon combination :: AK313253.1, AK222966.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000284767.12/ ENSP00000284767.8
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-45                AC106897.5         143493-143537       c
            46-978              AK313253.1         46-978
            979-2802            AC106897.5         108690-110513       c
FEATURES             Location/Qualifiers
     source          1..2802
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q35.1"
     gene            1..2802
                     /gene="PDLIM3"
                     /gene_synonym="ALP"
                     /note="PDZ and LIM domain 3"
                     /db_xref="GeneID:27295"
                     /db_xref="HGNC:HGNC:20767"
                     /db_xref="MIM:605889"
     exon            1..166
                     /gene="PDLIM3"
                     /gene_synonym="ALP"
                     /inference="alignment:Splign:2.1.0"
     CDS             74..1168
                     /gene="PDLIM3"
                     /gene_synonym="ALP"
                     /note="isoform a is encoded by transcript variant 1;
                     alpha-actinin-2-associated LIM protein; enigma homolog"
                     /codon_start=1
                     /product="PDZ and LIM domain protein 3 isoform a"
                     /protein_id="NP_055291.2"
                     /db_xref="CCDS:CCDS3844.1"
                     /db_xref="GeneID:27295"
                     /db_xref="HGNC:HGNC:20767"
                     /db_xref="MIM:605889"
                     /translation="MPQTVILPGPAPWGFRLSGGIDFNQPLVITRITPGSKAAAANLC
                     PGDVILAIDGFGTESMTHADAQDRIKAAAHQLCLKIDRGETHLWSPQVSEDGKAHPFK
                     INLESEPQDGNYFEHKHNIRPKPFVIPGRSSGCSTPSGIDCGSGRSTPSSVSTVSTIC
                     PGDLKVAAKLAPNIPLEMELPGVKIVHAQFNTPMQLYSDDNIMETLQGQVSTALGETP
                     LMSEPTASVPPESDVYRMLHDNRNEPTQPRQSGSFRVLQGMVDDGSDDRPAGTRSVRA
                     PVTKVHGGSGGAQRMPLCDKCGSGIVGAVVKARDKYRHPECFVCADCNLNLKQKGYFF
                     IEGELYCETHARARTKPPEGYDTVTLYPKA"
     exon            167..318
                     /gene="PDLIM3"
                     /gene_synonym="ALP"
                     /inference="alignment:Splign:2.1.0"
     exon            319..403
                     /gene="PDLIM3"
                     /gene_synonym="ALP"
                     /inference="alignment:Splign:2.1.0"
     exon            404..471
                     /gene="PDLIM3"
                     /gene_synonym="ALP"
                     /inference="alignment:Splign:2.1.0"
     exon            472..735
                     /gene="PDLIM3"
                     /gene_synonym="ALP"
                     /inference="alignment:Splign:2.1.0"
     exon            736..866
                     /gene="PDLIM3"
                     /gene_synonym="ALP"
                     /inference="alignment:Splign:2.1.0"
     exon            867..978
                     /gene="PDLIM3"
                     /gene_synonym="ALP"
                     /inference="alignment:Splign:2.1.0"
     exon            979..2802
                     /gene="PDLIM3"
                     /gene_synonym="ALP"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1694..1699
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PDLIM3"
                     /gene_synonym="ALP"
                     /note="hexamer: CATAAA"
     polyA_site      1713
                     /gene="PDLIM3"
                     /gene_synonym="ALP"
                     /note="major polyA site"
     regulatory      1923..1928
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PDLIM3"
                     /gene_synonym="ALP"
                     /note="hexamer: ATTAAA"
     polyA_site      1945
                     /gene="PDLIM3"
                     /gene_synonym="ALP"
     regulatory      2774..2779
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PDLIM3"
                     /gene_synonym="ALP"
                     /note="hexamer: AATAAA"
     polyA_site      2802
                     /gene="PDLIM3"
                     /gene_synonym="ALP"
ORIGIN      
        1 aggacgccgc ccggcgcgga gtggctgccc tgcgcgggga cacttagagc ccggtgggcg
       61 ggaggaaggc ggcatgcccc agacggtgat cctcccgggc cctgcgccct ggggcttcag
      121 gctctcaggg ggcatagact tcaaccagcc tttggtcatc accaggatta caccaggaag
      181 caaggcggca gctgccaacc tgtgtcctgg agatgtcatc ctggctattg acggctttgg
      241 gacagagtcc atgactcatg ctgatgcgca ggacaggatt aaagcagcag ctcaccagct
      301 gtgtctcaaa attgacaggg gagaaactca cttatggtct ccacaagtat ctgaagatgg
      361 gaaagcccat cctttcaaaa tcaacttaga atcagaacca caggacggga actactttga
      421 acacaagcat aatattcggc ccaaaccttt cgtgatcccg ggccgaagca gtggatgcag
      481 cactccctcc gggattgact gtggcagtgg acgcagcacc ccttcttctg tcagtactgt
      541 tagtaccatt tgcccaggtg acttgaaagt tgcggctaag ctggccccta acattccttt
      601 ggaaatggaa cttcctggtg tgaagattgt acatgctcag tttaatacac ctatgcagtt
      661 gtactcagat gacaatatta tggaaacact ccagggtcag gtttcaacag ccctagggga
      721 aacacctttg atgagcgagc ccacagcctc ggtgcccccc gagtcggacg tgtaccggat
      781 gctccacgac aatcggaatg agcccacaca gcctcgccag tcgggctcct tcagagtgct
      841 ccagggaatg gtggacgatg gctctgatga ccgtccggct ggaacgcgga gtgtgagagc
      901 tccggtgacg aaagtccatg gcggttcagg cggggcacag aggatgccgc tctgtgacaa
      961 atgtgggagt ggcatagtcg gtgctgtggt gaaggcgcgg gataagtacc ggcaccctga
     1021 gtgcttcgtg tgtgccgact gcaacctcaa cctcaagcaa aagggctact tcttcataga
     1081 aggggagctg tactgcgaaa cccacgcaag agcccgcaca aagcccccag agggctatga
     1141 cacggtcact ctgtatccca aagcttaagt ctctgcaggc gtggcacgca cgcacgcacc
     1201 cacccacgcg cacttacacg agaagacatt catggctttg ggcagaagga ttgtgcagat
     1261 tgtcaactcc aaatctaaag tcaaggcttt agacctttat cctattgttt attgaggaaa
     1321 aggaatggga ggcaaatgcc tgctatgtga aaaaaacata cacttagcta tgttttgcaa
     1381 ctctttttgg ggctagcaat aatgatattt aaagcaataa ttttttgtat gtcatactcc
     1441 acaatttaca tgtatattac agccatcaaa cacataaaca tcaagatatt tgaaggactc
     1501 taattgtctt tccttgacaa gttgattttg caattgtggt aaatagcaaa taacaatctt
     1561 gtattctaac ataatctgca gttgtctgta tgtgttttaa ctattacagt gcatgttagg
     1621 gagaaattcc ctgaatttct ttagttttgt attcaaacaa ttatgccact cgatgcaaca
     1681 aacataataa atacataaaa gatttaaaaa atacctaatg aagtggcatt cattgaattc
     1741 aaataaaatc aacatttcaa tgagagaacc caatcatatt ttaacatgta cactaacaaa
     1801 tattttaaga taaatgtggc ttcttcaggt tttataactc attactcttt cttatgagca
     1861 caaaatttct gatgatagaa gcgttgaaat ttgctagtta aaggtagttc agtctctttc
     1921 aaattaaaag tttcacttgc ttcaacagag actctttcaa tttaaatatc tctttcagat
     1981 caatattcag tcaaattgaa ggttcaaagt ccatcactgc tgtttcttag gctcaatggt
     2041 tcaccacctc ctcctcttcc caagatggca tctccaggaa gaaacaattt agacgacttc
     2101 ctaaggaagg caggggctgc tggtctcctg gggtcctgct tgtatccact gttgaaatcc
     2161 ttggtttcac ttgtgatctg tggtctgttt tcttgacata gttgaggcca ggcaataata
     2221 acacctccac taccacctcc aaaactctca gctcagcttt cctggagtca tggatcctct
     2281 gtctgagaca tgcactctgc ctggccctgg cgcaggcagc ctaccttgca ggctctgcat
     2341 ggcgttacct tgcctctcac ccagggtgcc catggcaatg ctcctgactt gcatctctca
     2401 cctactttcc atgtccccca ctggggacgt acaggaactt ctgaaactgt cccctcaggt
     2461 tcaaaccatg gggaaccagc agggtgggga ccctcagacc ctctgtctca ccaccttgtg
     2521 tcacatggtc atctctacca cccctcaacc cccacagctg ctaacttctg gcctgaaaca
     2581 agtgttctcc tcccataagg tcccaaatgg gacacaagtt ttattgctct gggattcttc
     2641 caaacttaac tgactctgac cctgacctgt tcaggatttt gagaggagcc aaaacacgtg
     2701 cctggcccct gtaggcattt gacattgcaa ctcctgtgcc aacacatgca ttcactaaca
     2761 aagctattaa aaaaataaaa cagacttttg agatcaaaga aa
//
