LOCUS       NM_001127453            2250 bp    mRNA    linear   PRI 06-DEC-2024
DEFINITION  Homo sapiens gasdermin E (GSDME), transcript variant 2, mRNA.
ACCESSION   NM_001127453
VERSION     NM_001127453.2
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 2250)
  AUTHORS   Long,Y., Jia,X. and Chu,L.
  TITLE     Insight into the structure, function and the tumor suppression
            effect of gasdermin E
  JOURNAL   Biochem Pharmacol 226, 116348 (2024)
   PUBMED   38852642
  REMARK    GeneRIF: Insight into the structure, function and the tumor
            suppression effect of gasdermin E.
            Review article
REFERENCE   2  (bases 1 to 2250)
  AUTHORS   Mao,J., Tan,M., Li,J., Liu,C., Hao,J., Zheng,J. and Shen,H.
  TITLE     Neutrophil Extracellular Traps Induce Pyroptosis of Rheumatoid
            Arthritis Fibroblast-Like Synoviocytes via the NF-kappaB/Caspase
            3/GSDME Pathway
  JOURNAL   Inflammation 47 (3), 921-938 (2024)
   PUBMED   38133702
  REMARK    GeneRIF: Neutrophil Extracellular Traps Induce Pyroptosis of
            Rheumatoid Arthritis Fibroblast-Like Synoviocytes via the
            NF-kappaB/Caspase 3/GSDME Pathway.
REFERENCE   3  (bases 1 to 2250)
  AUTHORS   Long,F., Wei,X., Chen,Y., Li,M., Lian,N., Yu,S., Chen,S., Yang,Y.,
            Li,M., Gu,H. and Chen,X.
  TITLE     Gasdermin E promotes translocation of p65 and c-jun into nucleus in
            keratinocytes for progression of psoriatic skin inflammation
  JOURNAL   Cell Death Dis 15 (3), 180 (2024)
   PUBMED   38429278
  REMARK    GeneRIF: Gasdermin E promotes translocation of p65 and c-jun into
            nucleus in keratinocytes for progression of psoriatic skin
            inflammation.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2250)
  AUTHORS   Cheng,J., Li,T., Tan,Q., Fu,J., Zhang,L., Yang,L., Zhou,B.,
            Yang,L., Fu,S., Linehan,A.G. and Fu,J.
  TITLE     Novel, pathogenic insertion variant of GSDME associates with
            autosomal dominant hearing loss in a large Chinese pedigree
  JOURNAL   J Cell Mol Med 28 (1), e18004 (2024)
   PUBMED   37864300
  REMARK    GeneRIF: Novel, pathogenic insertion variant of GSDME associates
            with autosomal dominant hearing loss in a large Chinese pedigree.
REFERENCE   5  (bases 1 to 2250)
  AUTHORS   Chen,L.K., Lin,S.P., Xie,Y.H., Tan,X.P., Xiong,B.H., Zeng,X.F.,
            Zhu,C.R., Cao,S.Y., Ye,X.Y., Liu,H.J. and Wu,X.P.
  TITLE     AMIGO2 attenuates innate cisplatin sensitivity by suppression of
            GSDME-conferred pyroptosis in non-small cell lung cancer
  JOURNAL   J Cell Mol Med 27 (16), 2412-2423 (2023)
   PUBMED   37438979
  REMARK    GeneRIF: AMIGO2 attenuates innate cisplatin sensitivity by
            suppression of GSDME-conferred pyroptosis in non-small cell lung
            cancer.
REFERENCE   6  (bases 1 to 2250)
  AUTHORS   Van Laer,L., Huizing,E.H., Verstreken,M., van Zuijlen,D.,
            Wauters,J.G., Bossuyt,P.J., Van de Heyning,P., McGuirt,W.T.,
            Smith,R.J., Willems,P.J., Legan,P.K., Richardson,G.P. and Van
            Camp,G.
  TITLE     Nonsyndromic hearing impairment is associated with a mutation in
            DFNA5
  JOURNAL   Nat Genet 20 (2), 194-197 (1998)
   PUBMED   9771715
REFERENCE   7  (bases 1 to 2250)
  AUTHORS   Thompson,D.A. and Weigel,R.J.
  TITLE     Characterization of a gene that is inversely correlated with
            estrogen receptor expression (ICERE-1) in breast carcinomas
  JOURNAL   Eur J Biochem 252 (1), 169-177 (1998)
   PUBMED   9523727
REFERENCE   8  (bases 1 to 2250)
  AUTHORS   Van Laer,L., Van Camp,G., van Zuijlen,D., Green,E.D.,
            Verstreken,M., Schatteman,I., Van de Heyning,P., Balemans,W.,
            Coucke,P., Greinwald,J.H., Smith,R.J., Huizing,E. and Willems,P.
  TITLE     Refined mapping of a gene for autosomal dominant progressive
            sensorineural hearing loss (DFNA5) to a 2-cM region, and exclusion
            of a candidate gene that is expressed in the cochlea
  JOURNAL   Eur J Hum Genet 5 (6), 397-405 (1997)
   PUBMED   9450185
REFERENCE   9  (bases 1 to 2250)
  AUTHORS   van Camp,G., Coucke,P., Balemans,W., van Velzen,D., van de Bilt,C.,
            van Laer,L., Smith,R.J., Fukushima,K., Padberg,G.W., Frants,R.R. et
            al.
  TITLE     Localization of a gene for non-syndromic hearing loss (DFNA5) to
            chromosome 7p15
  JOURNAL   Hum Mol Genet 4 (11), 2159-2163 (1995)
   PUBMED   8589696
REFERENCE   10 (bases 1 to 2250)
  AUTHORS   Shearer,A.E., Hildebrand,M.S., Odell,A.M. and Smith,R.J.H.
  TITLE     Genetic Hearing Loss Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301607
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA820184.1, BC125065.1 and
            AF131765.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 31, 2019 this sequence version replaced NM_001127453.1.
            
            Summary: Hearing impairment is a heterogeneous condition with over
            40 loci described. The protein encoded by this gene is expressed in
            fetal cochlea, however, its function is not known. Nonsyndromic
            hearing impairment is associated with a mutation in this gene.
            Three transcript variants encoding two different isoforms have been
            found for this gene. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 1. Variants 1 and 2 both encode isoform a.
            
            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 :: BC099911.1, SRR14038195.701506.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000645220.1/ ENSP00000494186.1
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-534               DA820184.1         1-534
            535-1980            BC125065.1         502-1947
            1981-2250           AF131765.1         1637-1906
FEATURES             Location/Qualifiers
     source          1..2250
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7p15.3"
     gene            1..2250
                     /gene="GSDME"
                     /gene_synonym="DFNA5; ICERE-1"
                     /note="gasdermin E"
                     /db_xref="GeneID:1687"
                     /db_xref="HGNC:HGNC:2810"
                     /db_xref="MIM:608798"
     exon            1..69
                     /gene="GSDME"
                     /gene_synonym="DFNA5; ICERE-1"
                     /inference="alignment:Splign:2.1.0"
     exon            70..299
                     /gene="GSDME"
                     /gene_synonym="DFNA5; ICERE-1"
                     /inference="alignment:Splign:2.1.0"
     CDS             89..1579
                     /gene="GSDME"
                     /gene_synonym="DFNA5; ICERE-1"
                     /note="isoform a is encoded by transcript variant 2;
                     nonsyndromic hearing impairment protein; non-syndromic
                     hearing impairment protein 5; inversely correlated with
                     estrogen receptor expression 1; DFNA5, deafness associated
                     tumor suppressor"
                     /codon_start=1
                     /product="gasdermin-E isoform a"
                     /protein_id="NP_001120925.1"
                     /db_xref="CCDS:CCDS5389.1"
                     /db_xref="GeneID:1687"
                     /db_xref="HGNC:HGNC:2810"
                     /db_xref="MIM:608798"
                     /translation="MFAKATRNFLREVDADGDLIAVSNLNDSDKLQLLSLVTKKKRFW
                     CWQRPKYQFLSLTLGDVLIEDQFPSPVVVESDFVKYEGKFANHVSGTLETALGKVKLN
                     LGGSSRVESQSSFGTLRKQEVDLQQLIRDSAERTINLRNPVLQQVLEGRNEVLCVLTQ
                     KITTMQKCVISEHMQVEEKCGGIVGIQTKTVQVSATEDGNVTKDSNVVLEIPAATTIA
                     YGVIELYVKLDGQFEFCLLRGKQGGFENKKRIDSVYLDPLVFREFAFIDMPDAAHGIS
                     SQDGPLSVLKQATLLLERNFHPFAELPEPQQTALSDIFQAVLFDDELLMVLEPVCDDL
                     VSGLSPTVAVLGELKPRQQQDLVAFLQLVGCSLQGGCPGPEDAGSKQLFMTAYFLVSA
                     LAEMPDSAAALLGTCCKLQIIPTLCHLLRALSDDGVSDLEDPTLTPLKDTERFGIVQR
                     LFASADISLERLKSSVKAVILKDSKVFPLLLCITLNGLCALGREHS"
     exon            300..492
                     /gene="GSDME"
                     /gene_synonym="DFNA5; ICERE-1"
                     /inference="alignment:Splign:2.1.0"
     exon            493..664
                     /gene="GSDME"
                     /gene_synonym="DFNA5; ICERE-1"
                     /inference="alignment:Splign:2.1.0"
     exon            665..785
                     /gene="GSDME"
                     /gene_synonym="DFNA5; ICERE-1"
                     /inference="alignment:Splign:2.1.0"
     exon            786..950
                     /gene="GSDME"
                     /gene_synonym="DFNA5; ICERE-1"
                     /inference="alignment:Splign:2.1.0"
     exon            951..1078
                     /gene="GSDME"
                     /gene_synonym="DFNA5; ICERE-1"
                     /inference="alignment:Splign:2.1.0"
     exon            1079..1271
                     /gene="GSDME"
                     /gene_synonym="DFNA5; ICERE-1"
                     /inference="alignment:Splign:2.1.0"
     exon            1272..1345
                     /gene="GSDME"
                     /gene_synonym="DFNA5; ICERE-1"
                     /inference="alignment:Splign:2.1.0"
     exon            1346..2250
                     /gene="GSDME"
                     /gene_synonym="DFNA5; ICERE-1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2228..2233
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GSDME"
                     /gene_synonym="DFNA5; ICERE-1"
                     /note="hexamer: ATTAAA"
     polyA_site      2250
                     /gene="GSDME"
                     /gene_synonym="DFNA5; ICERE-1"
                     /note="major polyA site"
ORIGIN      
        1 agcgcaggct cctccgactc cgccagcgca gggggcgcgg ctgccgggga cccagcagcg
       61 ggcgcgcgga taatctggag ctttcaaaat gtttgccaaa gcaaccagga attttcttag
      121 agaagttgat gctgatggtg acctgattgc agtatcaaat ctgaatgact ctgataagtt
      181 acagcttcta agtctggtga caaaaaagaa gagattctgg tgctggcaga gacccaagta
      241 ccagttttta tccctcaccc ttggcgatgt actcatagaa gaccaatttc cgagtccagt
      301 ggtcgtggag tcggactttg tgaaatacga gggcaagttt gcaaaccacg tgagtggaac
      361 cctggagact gcactgggga aggtcaagct gaacctgggg ggcagcagcc gcgtagagag
      421 ccagtcttca tttggaaccc tgaggaagca ggaggtggat ttgcagcagc tcatcagaga
      481 ctctgccgag agaacaataa atctgagaaa ccctgtgctc cagcaggtgc tggaaggaag
      541 gaatgaggtc ctgtgcgttt tgacacagaa gatcacgacg atgcagaagt gtgtgatctc
      601 tgagcacatg caggtcgagg agaagtgtgg tggcatcgtg ggcatccaga ccaagacggt
      661 gcaggtgtca gcgacggagg atgggaatgt caccaaggac tccaacgtgg tgctggagat
      721 cccagctgcc accaccattg cctacggtgt cattgagtta tacgtgaaac tggacggcca
      781 gttcgagttc tgccttctcc gagggaagca aggtggcttc gagaacaaga agagaattga
      841 ctctgtctac ctggaccccc tggtctttcg agagtttgca ttcatagaca tgccagatgc
      901 tgcgcatggg atatcttccc aggatggacc attaagtgtt ttaaagcaag cgaccctgct
      961 cctggagagg aatttccatc catttgcgga gctgcctgag ccacaacaga cagctttgag
     1021 tgacatcttc caggcggtcc tatttgatga tgaactactc atggtcctgg aaccagtgtg
     1081 cgatgacctg gtcagcggcc tctcgcccac agtggcggtg ctgggggagc tgaagccccg
     1141 gcagcagcag gaccttgtgg ccttcctgca gctggtgggg tgcagcttac agggtgggtg
     1201 tccgggcccc gaggatgcag gcagcaagca gctgtttatg acagcctact tcttggtcag
     1261 tgccctcgca gaaatgccag atagcgcagc agctctgctg ggcacttgct gcaaactcca
     1321 gatcattccc acactgtgcc acttgcttcg tgctctgtct gatgatggag tatctgatct
     1381 tgaagaccca accttgactc ccctgaaaga tacagaaagg tttgggattg tgcagcgctt
     1441 gtttgcctca gctgacatta gtctggagag actgaagtca tctgtgaaag ctgtcattct
     1501 gaaggactct aaagtcttcc cactgcttct ttgtataacc ctgaatggac tctgtgcttt
     1561 aggcagagaa cattcatgat gtcatatgtg aactagaagt acgtgttact ggccaaggct
     1621 atttttcaga actgttaaag gtcatatgca cgttaaaagt tgaccaatga aatgaattta
     1681 cagaacagtt taagaagtgg tgacattttg catgatgaat gacctgactt ttagccacca
     1741 ggtactcttt aaacagtttt ccttatcaga ggccctcctg tgctggtgac ccagcatctg
     1801 agttaggttc cagcatgtaa agagctggga gggcggagaa ttcttagcat acattcagac
     1861 gttttttctg cacaataata agtccatctg tcacttgcat tccacttttt gttacataga
     1921 aagagtctga ccctttaatc caaaaggtct ttttacattg tgaatgctgt gggaaggcaa
     1981 tttctctgca cacaagaggc tacgttttgg aagtgatgta tgttatttga tgactgaaaa
     2041 tgaactgtaa atgctcctag agtatattcc tctgctgaac aaaattaaac ttcaaaaaaa
     2101 tctaacagta acacacccct gcttgggacc ctagctatat gcattttatg tgaccttgcc
     2161 atgcttcagt gaacatacta attctatgtc tagcacatgt tgatttccta tgtattctgg
     2221 gtattctatt aaaggaaact ttgaactatg
//
