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Homo sapiens gelsolin (GSN), transcript variant 1, mRNA

NCBI Reference Sequence: NM_000177.5

FASTA Graphics 

LOCUS       NM_000177               2619 bp    mRNA    linear   PRI 22-MAY-2024
DEFINITION  Homo sapiens gelsolin (GSN), transcript variant 1, mRNA.
ACCESSION   NM_000177
VERSION     NM_000177.5
KEYWORDS    RefSeq.
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 2619)
  AUTHORS   Hu,E., Yang,T., Cai,L., Ouyang,J., Wang,F., Li,Z., Wang,Y., Xing,X.
            and Liu,X.
  TITLE     Proteomic Analysis Identifies GSN as a Noninvasive Circulating
            Serum Biomarker for Predicting Early Recurrence of Hepatocellular
            Carcinoma
  JOURNAL   J Proteome Res 23 (3), 1062-1074 (2024)
   PUBMED   38373391
  REMARK    GeneRIF: Proteomic Analysis Identifies GSN as a Noninvasive
            Circulating Serum Biomarker for Predicting Early Recurrence of
            Hepatocellular Carcinoma.
REFERENCE   2  (bases 1 to 2619)
  AUTHORS   Manzoor,H.B., Asare-Werehene,M., Pereira,S.D., Satyamoorthy,K. and
            Tsang,B.K.
  TITLE     The regulation of plasma gelsolin by DNA methylation in ovarian
            cancer chemo-resistance
  JOURNAL   J Ovarian Res 17 (1), 15 (2024)
   PUBMED   38216951
  REMARK    GeneRIF: The regulation of plasma gelsolin by DNA methylation in
            ovarian cancer chemo-resistance.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2619)
  AUTHORS   Alsofyani,A.A. and Nedjadi,T.
  TITLE     Gelsolin, an Actin-Binding Protein: Bioinformatic Analysis and
            Functional Significance in Urothelial Bladder Carcinoma
  JOURNAL   Int J Mol Sci 24 (21), 15763 (2023)
   PUBMED   37958747
  REMARK    GeneRIF: Gelsolin, an Actin-Binding Protein: Bioinformatic Analysis
            and Functional Significance in Urothelial Bladder Carcinoma.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2619)
  AUTHORS   Zhang,Q., Wen,X.H., Tang,S.L., Zhao,Z.W. and Tang,C.K.
  TITLE     Role and therapeutic potential of gelsolin in atherosclerosis
  JOURNAL   J Mol Cell Cardiol 178, 59-67 (2023)
   PUBMED   36967105
  REMARK    GeneRIF: Role and therapeutic potential of gelsolin in
            atherosclerosis.
            Review article
REFERENCE   5  (bases 1 to 2619)
  AUTHORS   Chantaravisoot,N., Wongkongkathep,P., Kalpongnukul,N.,
            Pacharakullanon,N., Kaewsapsak,P., Ariyachet,C., Loo,J.A.,
            Tamanoi,F. and Pisitkun,T.
  TITLE     mTORC2 interactome and localization determine aggressiveness of
            high-grade glioma cells through association with gelsolin
  JOURNAL   Sci Rep 13 (1), 7037 (2023)
   PUBMED   37120454
  REMARK    GeneRIF: mTORC2 interactome and localization determine
            aggressiveness of high-grade glioma cells through association with
            gelsolin.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2619)
  AUTHORS   de la Chapelle,A., Tolvanen,R., Boysen,G., Santavy,J.,
            Bleeker-Wagemakers,L., Maury,C.P. and Kere,J.
  TITLE     Gelsolin-derived familial amyloidosis caused by asparagine or
            tyrosine substitution for aspartic acid at residue 187
  JOURNAL   Nat Genet 2 (2), 157-160 (1992)
   PUBMED   1338910
REFERENCE   7  (bases 1 to 2619)
  AUTHORS   Yu,F.X., Sun,H.Q., Janmey,P.A. and Yin,H.L.
  TITLE     Identification of a polyphosphoinositide-binding sequence in an
            actin monomer-binding domain of gelsolin
  JOURNAL   J Biol Chem 267 (21), 14616-14621 (1992)
   PUBMED   1321812
REFERENCE   8  (bases 1 to 2619)
  AUTHORS   de la Chapelle,A., Kere,J., Sack,G.H. Jr., Tolvanen,R. and
            Maury,C.P.
  TITLE     Familial amyloidosis, Finnish type: G654----a mutation of the
            gelsolin gene in Finnish families and an unrelated American family
  JOURNAL   Genomics 13 (3), 898-901 (1992)
   PUBMED   1322359
REFERENCE   9  (bases 1 to 2619)
  AUTHORS   Paunio,T., Kiuru,S., Hongell,V., Mustonen,E., Syvanen,A.C.,
            Bengstrom,M., Palo,J. and Peltonen,L.
  TITLE     Solid-phase minisequencing test reveals Asp187----Asn (G654----A)
            mutation of gelsolin in all affected individuals with Finnish type
            of familial amyloidosis
  JOURNAL   Genomics 13 (1), 237-239 (1992)
   PUBMED   1315718
REFERENCE   10 (bases 1 to 2619)
  AUTHORS   Haltia,M., Levy,E., Meretoja,J., Fernandez-Madrid,I., Koivunen,O.
            and Frangione,B.
  TITLE     Gelsolin gene mutation--at codon 187--in familial amyloidosis,
            Finnish: DNA-diagnostic assay
  JOURNAL   Am J Med Genet 42 (3), 357-359 (1992)
   PUBMED   1311149
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB250757.1 and BC026033.1.
            
            On Jun 2, 2019 this sequence version replaced NM_000177.4.
            
            Summary: The protein encoded by this gene binds to the 'plus' ends
            of actin monomers and filaments to prevent monomer exchange. The
            encoded calcium-regulated protein functions in both assembly and
            disassembly of actin filaments. Defects in this gene are a cause of
            familial amyloidosis Finnish type (FAF). Multiple transcript
            variants encoding several different isoforms have been found for
            this gene. [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 :: DRR138527.445710.1,
                                           DRR138528.630251.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-26                DB250757.1         31-56
            27-2619             BC026033.1         1-2593
FEATURES             Location/Qualifiers
     source          1..2619
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q33.2"
     gene            1..2619
                     /gene="GSN"
                     /gene_synonym="ADF; AGEL; AMYLD4"
                     /note="gelsolin"
                     /db_xref="GeneID:2934"
                     /db_xref="HGNC:HGNC:4620"
                     /db_xref="MIM:137350"
     exon            1..175
                     /gene="GSN"
                     /gene_synonym="ADF; AGEL; AMYLD4"
                     /inference="alignment:Splign:2.1.0"
     CDS             32..2380
                     /gene="GSN"
                     /gene_synonym="ADF; AGEL; AMYLD4"
                     /note="isoform a precursor is encoded by transcript
                     variant 1; brevin; actin-depolymerizing factor; epididymis
                     secretory sperm binding protein"
                     /codon_start=1
                     /product="gelsolin isoform a precursor"
                     /protein_id="NP_000168.1"
                     /db_xref="CCDS:CCDS6828.1"
                     /db_xref="GeneID:2934"
                     /db_xref="HGNC:HGNC:4620"
                     /db_xref="MIM:137350"
                     /translation="MAPHRPAPALLCALSLALCALSLPVRAATASRGASQAGAPQGRV
                     PEARPNSMVVEHPEFLKAGKEPGLQIWRVEKFDLVPVPTNLYGDFFTGDAYVILKTVQ
                     LRNGNLQYDLHYWLGNECSQDESGAAAIFTVQLDDYLNGRAVQHREVQGFESATFLGY
                     FKSGLKYKKGGVASGFKHVVPNEVVVQRLFQVKGRRVVRATEVPVSWESFNNGDCFIL
                     DLGNNIHQWCGSNSNRYERLKATQVSKGIRDNERSGRARVHVSEEGTEPEAMLQVLGP
                     KPALPAGTEDTAKEDAANRKLAKLYKVSNGAGTMSVSLVADENPFAQGALKSEDCFIL
                     DHGKDGKIFVWKGKQANTEERKAALKTASDFITKMDYPKQTQVSVLPEGGETPLFKQF
                     FKNWRDPDQTDGLGLSYLSSHIANVERVPFDAATLHTSTAMAAQHGMDDDGTGQKQIW
                     RIEGSNKVPVDPATYGQFYGGDSYIILYNYRHGGRQGQIIYNWQGAQSTQDEVAASAI
                     LTAQLDEELGGTPVQSRVVQGKEPAHLMSLFGGKPMIIYKGGTSREGGQTAPASTRLF
                     QVRANSAGATRAVEVLPKAGALNSNDAFVLKTPSAAYLWVGTGASEAEKTGAQELLRV
                     LRAQPVQVAEGSEPDGFWEALGGKAAYRTSPRLKDKKMDAHPPRLFACSNKIGRFVIE
                     EVPGELMQEDLATDDVMLLDTWDQVFVWVGKDSQEEEKTEALTSAKRYIETDPANRDR
                     RTPITVVKQGFEPPSFVGWFLGWDDDYWSVDPLDRAMAELAA"
     sig_peptide     32..112
                     /gene="GSN"
                     /gene_synonym="ADF; AGEL; AMYLD4"
                     /inference="COORDINATES: ab initio prediction:SignalP:6.0"
     mat_peptide     113..2377
                     /gene="GSN"
                     /gene_synonym="ADF; AGEL; AMYLD4"
                     /product="gelsolin isoform a"
     misc_feature    188..559
                     /gene="GSN"
                     /gene_synonym="ADF; AGEL; AMYLD4"
                     /note="propagated from UniProtKB/Swiss-Prot (P06396.1);
                     Region: Actin-severing. /evidence=ECO:0000255"
     misc_feature    287..289
                     /gene="GSN"
                     /gene_synonym="ADF; AGEL; AMYLD4"
                     /note="Phosphotyrosine, by SRC, in vitro.
                     /evidence=ECO:0000269|PubMed:10210201; propagated from
                     UniProtKB/Swiss-Prot (P06396.1); phosphorylation site"
     misc_feature    398..409
                     /gene="GSN"
                     /gene_synonym="ADF; AGEL; AMYLD4"
                     /note="propagated from UniProtKB/Swiss-Prot (P06396.1);
                     Region: Actin-actin interfilament contact point"
     misc_feature    623..841
                     /gene="GSN"
                     /gene_synonym="ADF; AGEL; AMYLD4"
                     /note="propagated from UniProtKB/Swiss-Prot (P06396.1);
                     Region: Gelsolin-like 2. /evidence=ECO:0000255"
     misc_feature    770..886
                     /gene="GSN"
                     /gene_synonym="ADF; AGEL; AMYLD4"
                     /note="propagated from UniProtKB/Swiss-Prot (P06396.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    980..1198
                     /gene="GSN"
                     /gene_synonym="ADF; AGEL; AMYLD4"
                     /note="propagated from UniProtKB/Swiss-Prot (P06396.1);
                     Region: Gelsolin-like 3. /evidence=ECO:0000255"
     misc_feature    1256..1258
                     /gene="GSN"
                     /gene_synonym="ADF; AGEL; AMYLD4"
                     /note="Phosphotyrosine, by SRC, in vitro.
                     /evidence=ECO:0000269|PubMed:10210201; propagated from
                     UniProtKB/Swiss-Prot (P06396.1); phosphorylation site"
     misc_feature    1331..2377
                     /gene="GSN"
                     /gene_synonym="ADF; AGEL; AMYLD4"
                     /note="propagated from UniProtKB/Swiss-Prot (P06396.1);
                     Region: Actin-binding, Ca-sensitive.
                     /evidence=ECO:0000255"
     misc_feature    1424..1426
                     /gene="GSN"
                     /gene_synonym="ADF; AGEL; AMYLD4"
                     /note="Phosphotyrosine, by SRC.
                     /evidence=ECO:0000269|PubMed:10210201; propagated from
                     UniProtKB/Swiss-Prot (P06396.1); phosphorylation site"
     misc_feature    1781..1783
                     /gene="GSN"
                     /gene_synonym="ADF; AGEL; AMYLD4"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:P13020; propagated from
                     UniProtKB/Swiss-Prot (P06396.1); acetylation site"
     misc_feature    1838..1840
                     /gene="GSN"
                     /gene_synonym="ADF; AGEL; AMYLD4"
                     /note="Phosphotyrosine, by SRC, in vitro.
                     /evidence=ECO:0000269|PubMed:10210201; propagated from
                     UniProtKB/Swiss-Prot (P06396.1); phosphorylation site"
     misc_feature    1982..1984
                     /gene="GSN"
                     /gene_synonym="ADF; AGEL; AMYLD4"
                     /note="Phosphotyrosine, by SRC, in vitro.
                     /evidence=ECO:0000269|PubMed:10210201; propagated from
                     UniProtKB/Swiss-Prot (P06396.1); phosphorylation site"
     misc_feature    2255..2257
                     /gene="GSN"
                     /gene_synonym="ADF; AGEL; AMYLD4"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P06396.1); phosphorylation site"
     exon            176..380
                     /gene="GSN"
                     /gene_synonym="ADF; AGEL; AMYLD4"
                     /inference="alignment:Splign:2.1.0"
     exon            381..535
                     /gene="GSN"
                     /gene_synonym="ADF; AGEL; AMYLD4"
                     /inference="alignment:Splign:2.1.0"
     exon            536..697
                     /gene="GSN"
                     /gene_synonym="ADF; AGEL; AMYLD4"
                     /inference="alignment:Splign:2.1.0"
     exon            698..847
                     /gene="GSN"
                     /gene_synonym="ADF; AGEL; AMYLD4"
                     /inference="alignment:Splign:2.1.0"
     exon            848..937
                     /gene="GSN"
                     /gene_synonym="ADF; AGEL; AMYLD4"
                     /inference="alignment:Splign:2.1.0"
     exon            938..1070
                     /gene="GSN"
                     /gene_synonym="ADF; AGEL; AMYLD4"
                     /inference="alignment:Splign:2.1.0"
     exon            1071..1159
                     /gene="GSN"
                     /gene_synonym="ADF; AGEL; AMYLD4"
                     /inference="alignment:Splign:2.1.0"
     exon            1160..1375
                     /gene="GSN"
                     /gene_synonym="ADF; AGEL; AMYLD4"
                     /inference="alignment:Splign:2.1.0"
     exon            1376..1509
                     /gene="GSN"
                     /gene_synonym="ADF; AGEL; AMYLD4"
                     /inference="alignment:Splign:2.1.0"
     exon            1510..1600
                     /gene="GSN"
                     /gene_synonym="ADF; AGEL; AMYLD4"
                     /inference="alignment:Splign:2.1.0"
     exon            1601..1771
                     /gene="GSN"
                     /gene_synonym="ADF; AGEL; AMYLD4"
                     /inference="alignment:Splign:2.1.0"
     exon            1772..1946
                     /gene="GSN"
                     /gene_synonym="ADF; AGEL; AMYLD4"
                     /inference="alignment:Splign:2.1.0"
     exon            1947..2071
                     /gene="GSN"
                     /gene_synonym="ADF; AGEL; AMYLD4"
                     /inference="alignment:Splign:2.1.0"
     exon            2072..2149
                     /gene="GSN"
                     /gene_synonym="ADF; AGEL; AMYLD4"
                     /inference="alignment:Splign:2.1.0"
     exon            2150..2210
                     /gene="GSN"
                     /gene_synonym="ADF; AGEL; AMYLD4"
                     /inference="alignment:Splign:2.1.0"
     exon            2211..2619
                     /gene="GSN"
                     /gene_synonym="ADF; AGEL; AMYLD4"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2598..2603
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GSN"
                     /gene_synonym="ADF; AGEL; AMYLD4"
                     /note="hexamer: AATAAA"
     polyA_site      2619
                     /gene="GSN"
                     /gene_synonym="ADF; AGEL; AMYLD4"
                     /note="major polyA site"
ORIGIN      
        1 gccgactggg tcccctgccg ctgtcgccac catggctccg caccgccccg cgcccgcgct
       61 gctttgcgcg ctgtccctgg cgctgtgcgc gctgtcgctg cccgtccgcg cggccactgc
      121 gtcgcggggg gcgtcccagg cgggggcgcc ccaggggcgg gtgcccgagg cgcggcccaa
      181 cagcatggtg gtggaacacc ccgagttcct caaggcaggg aaggagcctg gcctgcagat
      241 ctggcgtgtg gagaagttcg atctggtgcc cgtgcccacc aacctttatg gagacttctt
      301 cacgggcgac gcctacgtca tcctgaagac agtgcagctg aggaacggaa atctgcagta
      361 tgacctccac tactggctgg gcaatgagtg cagccaggat gagagcgggg cggccgccat
      421 ctttaccgtg cagctggatg actacctgaa cggccgggcc gtgcagcacc gtgaggtcca
      481 gggcttcgag tcggccacct tcctaggcta cttcaagtct ggcctgaagt acaagaaagg
      541 aggtgtggca tcaggattca agcacgtggt acccaacgag gtggtggtgc agagactctt
      601 ccaggtcaaa gggcggcgtg tggtccgtgc caccgaggta cctgtgtcct gggagagctt
      661 caacaatggc gactgcttca tcctggacct gggcaacaac atccaccagt ggtgtggttc
      721 caacagcaat cggtatgaaa gactgaaggc cacacaggtg tccaagggca tccgggacaa
      781 cgagcggagt ggccgggccc gagtgcacgt gtctgaggag ggcactgagc ccgaggcgat
      841 gctccaggtg ctgggcccca agccggctct gcctgcaggt accgaggaca ccgccaagga
      901 ggatgcggcc aaccgcaagc tggccaagct ctacaaggtc tccaatggtg cagggaccat
      961 gtccgtctcc ctcgtggctg atgagaaccc cttcgcccag ggggccctga agtcagagga
     1021 ctgcttcatc ctggaccacg gcaaagatgg gaaaatcttt gtctggaaag gcaagcaggc
     1081 aaacacggag gagaggaagg ctgccctcaa aacagcctct gacttcatca ccaagatgga
     1141 ctaccccaag cagactcagg tctcggtcct tcctgagggc ggtgagaccc cactgttcaa
     1201 gcagttcttc aagaactggc gggacccaga ccagacagat ggcctgggct tgtcctacct
     1261 ttccagccat atcgccaacg tggagcgggt gcccttcgac gccgccaccc tgcacacctc
     1321 cactgccatg gccgcccagc acggcatgga tgacgatggc acaggccaga aacagatctg
     1381 gagaatcgaa ggttccaaca aggtgcccgt ggaccctgcc acatatggac agttctatgg
     1441 aggcgacagc tacatcattc tgtacaacta ccgccatggt ggccgccagg ggcagataat
     1501 ctataactgg cagggtgccc agtctaccca ggatgaggtc gctgcatctg ccatcctgac
     1561 tgctcagctg gatgaggagc tgggaggtac ccctgtccag agccgtgtgg tccaaggcaa
     1621 ggagcccgcc cacctcatga gcctgtttgg tgggaagccc atgatcatct acaagggcgg
     1681 cacctcccgc gagggcgggc agacagcccc tgccagcacc cgcctcttcc aggtccgcgc
     1741 caacagcgct ggagccaccc gggctgttga ggtattgcct aaggctggtg cactgaactc
     1801 caacgatgcc tttgttctga aaaccccctc agccgcctac ctgtgggtgg gtacaggagc
     1861 cagcgaggca gagaagacgg gggcccagga gctgctcagg gtgctgcggg cccaacctgt
     1921 gcaggtggca gaaggcagcg agccagatgg cttctgggag gccctgggcg ggaaggctgc
     1981 ctaccgcaca tccccacggc tgaaggacaa gaagatggat gcccatcctc ctcgcctctt
     2041 tgcctgctcc aacaagattg gacgttttgt gatcgaagag gttcctggtg agctcatgca
     2101 ggaagacctg gcaacggatg acgtcatgct tctggacacc tgggaccagg tctttgtctg
     2161 ggttggaaag gattctcaag aagaagaaaa gacagaagcc ttgacttctg ctaagcggta
     2221 catcgagacg gacccagcca atcgggatcg gcggacgccc atcaccgtgg tgaagcaagg
     2281 ctttgagcct ccctcctttg tgggctggtt ccttggctgg gatgatgatt actggtctgt
     2341 ggaccccttg gacagggcca tggctgagct ggctgcctga ggaggggcag ggcccaccca
     2401 tgtcaccggt cagtgccttt tggaactgtc cttccctcaa agaggcctta gagcgagcag
     2461 agcagctctg ctatgagtgt gtgtgtgtgt gtgtgttgtt tctttttttt ttttttacag
     2521 tatccaaaaa tagccctgca aaaattcaga gtccttgcaa aattgtctaa aatgtcagtg
     2581 tttgggaaat taaatccaat aaaaacattt tgaagtgtg
//
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