LOCUS       NM_005022                807 bp    mRNA    linear   PRI 15-OCT-2024
DEFINITION  Homo sapiens profilin 1 (PFN1), transcript variant 2, mRNA.
ACCESSION   NM_005022
VERSION     NM_005022.4
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 807)
  AUTHORS   He,C., Chen,X., Chen,Y., Sun,J., Qi,M., Rocha,S. and Wang,M.
  TITLE     Global acetylome profiling indicates EPA impedes but OA promotes
            prostate cancer motility through altered acetylation of PFN1 and
            FLNA
  JOURNAL   Proteomics 24 (19), e2300393 (2024)
   PUBMED   38430206
  REMARK    GeneRIF: Global acetylome profiling indicates EPA impedes but OA
            promotes prostate cancer motility through altered acetylation of
            PFN1 and FLNA.
REFERENCE   2  (bases 1 to 807)
  AUTHORS   Funes,S., Jung,J., Gadd,D.H., Mosqueda,M., Zhong,J.,
            Shankaracharya, Unger,M., Stallworth,K., Cameron,D., Rotunno,M.S.,
            Dawes,P., Fowler-Magaw,M., Keagle,P.J., McDonough,J.A.,
            Boopathy,S., Sena-Esteves,M., Nickerson,J.A., Lutz,C.,
            Skarnes,W.C., Lim,E.T., Schafer,D.P., Massi,F., Landers,J.E. and
            Bosco,D.A.
  TITLE     Expression of ALS-PFN1 impairs vesicular degradation in
            iPSC-derived microglia
  JOURNAL   Nat Commun 15 (1), 2497 (2024)
   PUBMED   38509062
  REMARK    GeneRIF: Expression of ALS-PFN1 impairs vesicular degradation in
            iPSC-derived microglia.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 807)
  AUTHORS   Ricci,M.M.C., Orenberg,A., Ohayon,L., Gau,D., Wills,R.C., Bae,Y.,
            Das,T., Koes,D., Hammond,G.R.V. and Roy,P.
  TITLE     Actin-binding protein profilin1 is an important determinant of
            cellular phosphoinositide control
  JOURNAL   J Biol Chem 300 (1), 105583 (2024)
   PUBMED   38141770
  REMARK    GeneRIF: Actin-binding protein profilin1 is an important
            determinant of cellular phosphoinositide control.
REFERENCE   4  (bases 1 to 807)
  AUTHORS   Shao,J., Welch,W.J., Diprospero,N.A. and Diamond,M.I.
  TITLE     Phosphorylation of profilin by ROCK1 regulates polyglutamine
            aggregation
  JOURNAL   Mol Cell Biol 28 (17), 5196-5208 (2008)
   PUBMED   18573880
  REMARK    GeneRIF: A signaling pathway from ROCK1 to profilin controls
            polyglutamine protein aggregation.
REFERENCE   5  (bases 1 to 807)
  AUTHORS   Adams,M.D., Kerlavage,A.R., Fleischmann,R.D., Fuldner,R.A.,
            Bult,C.J., Lee,N.H., Kirkness,E.F., Weinstock,K.G., Gocayne,J.D.,
            White,O. et al.
  TITLE     Initial assessment of human gene diversity and expression patterns
            based upon 83 million nucleotides of cDNA sequence
  JOURNAL   Nature 377 (6547 Suppl), 3-174 (1995)
   PUBMED   7566098
REFERENCE   6  (bases 1 to 807)
  AUTHORS   Gieselmann,R., Kwiatkowski,D.J., Janmey,P.A. and Witke,W.
  TITLE     Distinct biochemical characteristics of the two human profilin
            isoforms
  JOURNAL   Eur J Biochem 229 (3), 621-628 (1995)
   PUBMED   7758455
REFERENCE   7  (bases 1 to 807)
  AUTHORS   Siddique,N. and Siddique,T.
  TITLE     Amyotrophic Lateral Sclerosis Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301623
REFERENCE   8  (bases 1 to 807)
  AUTHORS   Kwiatkowski,D.J., Aklog,L., Ledbetter,D.H. and Morton,C.C.
  TITLE     Identification of the functional profilin gene, its localization to
            chromosome subband 17p13.3, and demonstration of its deletion in
            some patients with Miller-Dieker syndrome
  JOURNAL   Am J Hum Genet 46 (3), 559-567 (1990)
   PUBMED   1968707
REFERENCE   9  (bases 1 to 807)
  AUTHORS   Kwiatkowski,D.J. and Bruns,G.A.
  TITLE     Human profilin. Molecular cloning, sequence comparison, and
            chromosomal analysis
  JOURNAL   J Biol Chem 263 (12), 5910-5915 (1988)
   PUBMED   3356709
REFERENCE   10 (bases 1 to 807)
  AUTHORS   Ampe,C., Markey,F., Lindberg,U. and Vandekerckhove,J.
  TITLE     The primary structure of human platelet profilin: reinvestigation
            of the calf spleen profilin sequence
  JOURNAL   FEBS Lett 228 (1), 17-21 (1988)
   PUBMED   3342873
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC004771.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Aug 1, 2019 this sequence version replaced NM_005022.3.
            
            Summary: This gene encodes a member of the profilin family of small
            actin-binding proteins. The encoded protein plays an important role
            in actin dynamics by regulating actin polymerization in response to
            extracellular signals. Deletion of this gene is associated with
            Miller-Dieker syndrome, and the encoded protein may also play a
            role in Huntington disease. Multiple pseudogenes of this gene are
            located on chromosome 1. [provided by RefSeq, Jul 2012].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on 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 :: BC002475.2, BU149308.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000225655.6/ ENSP00000225655.5
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-268               AC004771.1         17925-18192         c
            269-461             AC004771.1         16290-16482         c
            462-807             AC004771.1         15314-15659         c
FEATURES             Location/Qualifiers
     source          1..807
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17p13.2"
     gene            1..807
                     /gene="PFN1"
                     /gene_synonym="ALS18"
                     /note="profilin 1"
                     /db_xref="GeneID:5216"
                     /db_xref="HGNC:HGNC:8881"
                     /db_xref="MIM:176610"
     exon            1..268
                     /gene="PFN1"
                     /gene_synonym="ALS18"
                     /inference="alignment:Splign:2.1.0"
     CDS             137..559
                     /gene="PFN1"
                     /gene_synonym="ALS18"
                     /note="isoform 2 is encoded by transcript variant 2;
                     profilin I; epididymis tissue protein Li 184a"
                     /codon_start=1
                     /product="profilin-1 isoform 2"
                     /protein_id="NP_005013.1"
                     /db_xref="CCDS:CCDS11061.1"
                     /db_xref="GeneID:5216"
                     /db_xref="HGNC:HGNC:8881"
                     /db_xref="MIM:176610"
                     /translation="MAGWNAYIDNLMADGTCQDAAIVGYKDSPSVWAAVPGKTFVNIT
                     PAEVGVLVGKDRSSFYVNGLTLGGQKCSVIRDSLLQDGEFSMDLRTKSTGGAPTFNVT
                     VTKTDKTLVLLMGKEGVHGGLINKKCYEMASHLRRSQY"
     exon            269..461
                     /gene="PFN1"
                     /gene_synonym="ALS18"
                     /inference="alignment:Splign:2.1.0"
     exon            462..807
                     /gene="PFN1"
                     /gene_synonym="ALS18"
                     /inference="alignment:Splign:2.1.0"
     regulatory      785..790
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PFN1"
                     /gene_synonym="ALS18"
                     /note="hexamer: AATAAA"
     polyA_site      807
                     /gene="PFN1"
                     /gene_synonym="ALS18"
                     /note="major polyA site"
ORIGIN      
        1 acagcgagcg gagccgcggt ccggacggca gcgcgtgccc cgagctctcc gcctcccccc
       61 gcccgccagc cgaggcagct cgagcccagt ccgcggcccc agcagcagcg ccgagagcag
      121 ccccagtagc agcgccatgg ccgggtggaa cgcctacatc gacaacctca tggcggacgg
      181 gacctgtcag gacgcggcca tcgtgggcta caaggactcg ccctccgtct gggccgccgt
      241 ccccgggaaa acgttcgtca acatcacgcc agctgaggtg ggtgtcctgg ttggcaaaga
      301 ccggtcaagt ttttacgtga atgggctgac acttgggggc cagaaatgtt cggtgatccg
      361 ggactcactg ctgcaggatg gggaatttag catggatctt cgtaccaaga gcaccggtgg
      421 ggcccccacc ttcaatgtca ctgtcaccaa gactgacaag acgctagtcc tgctgatggg
      481 caaagaaggt gtccacggtg gtttgatcaa caagaaatgt tatgaaatgg cctcccacct
      541 tcggcgttcc cagtactgac ctcgtctgtc ccttcccctt caccgctccc cacagctttg
      601 cacccctttc ctccccatac acacacaaac cattttattt tttgggccat taccccatac
      661 cccttattgc tgccaaaacc acatgggctg ggggccaggg ctggatggac agacacctcc
      721 ccctacccat atccctcccg tgtgtggttg gaaaactttt gttttttggg gttttttttt
      781 tctgaataaa aaagattcta ctaacaa
//
