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
//