LOCUS       NM_031415               2450 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens gasdermin C (GSDMC), mRNA.
ACCESSION   NM_031415
VERSION     NM_031415.3
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 2450)
  AUTHORS   Li,M., Jiang,Q., Liu,X., Han,L., Chen,S. and Xue,R.
  TITLE     The Pyroptosis-Related Signature Composed of GSDMC Predicts
            Prognosis and Contributes to Growth and Metastasis of
            Hepatocellular Carcinoma
  JOURNAL   Front Biosci (Landmark Ed) 28 (10), 235 (2023)
   PUBMED   37919059
  REMARK    GeneRIF: The Pyroptosis-Related Signature Composed of GSDMC
            Predicts Prognosis and Contributes to Growth and Metastasis of
            Hepatocellular Carcinoma.
REFERENCE   2  (bases 1 to 2450)
  AUTHORS   Yan,C., Niu,Y., Li,F., Zhao,W. and Ma,L.
  TITLE     System analysis based on the pyroptosis-related genes identifies
            GSDMC as a novel therapy target for pancreatic adenocarcinoma
  JOURNAL   J Transl Med 20 (1), 455 (2022)
   PUBMED   36199146
  REMARK    GeneRIF: System analysis based on the pyroptosis-related genes
            identifies GSDMC as a novel therapy target for pancreatic
            adenocarcinoma.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2450)
  AUTHORS   Cui,Y.Q., Meng,F., Zhan,W.L., Dai,Z.T. and Liao,X.
  TITLE     High Expression of GSDMC Is Associated with Poor Survival in Kidney
            Clear Cell Cancer
  JOURNAL   Biomed Res Int 2021, 5282894 (2021)
   PUBMED   34778452
  REMARK    GeneRIF: High Expression of GSDMC Is Associated with Poor Survival
            in Kidney Clear Cell Cancer.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2450)
  AUTHORS   Zhang,J.Y., Zhou,B., Sun,R.Y., Ai,Y.L., Cheng,K., Li,F.N.,
            Wang,B.R., Liu,F.J., Jiang,Z.H., Wang,W.J., Zhou,D., Chen,H.Z. and
            Wu,Q.
  TITLE     The metabolite alpha-KG induces GSDMC-dependent pyroptosis through
            death receptor 6-activated caspase-8
  JOURNAL   Cell Res 31 (9), 980-997 (2021)
   PUBMED   34012073
REFERENCE   5  (bases 1 to 2450)
  AUTHORS   Jiang,H., Moro,A., Liu,Y., Wang,J., Meng,D., Zhan,X. and Wei,Q.
  TITLE     Two GWAS-identified variants are associated with lumbar spinal
            stenosis and Gasdermin-C expression in Chinese population
  JOURNAL   Sci Rep 10 (1), 21069 (2020)
   PUBMED   33273635
  REMARK    GeneRIF: Two GWAS-identified variants are associated with lumbar
            spinal stenosis and Gasdermin-C expression in Chinese population.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2450)
  AUTHORS   Lango Allen,H., Estrada,K., Lettre,G., Berndt,S.I., Weedon,M.N.,
            Rivadeneira,F., Willer,C.J., Jackson,A.U., Vedantam,S.,
            Raychaudhuri,S., Ferreira,T., Wood,A.R., Weyant,R.J., Segre,A.V.,
            Speliotes,E.K., Wheeler,E., Soranzo,N., Park,J.H., Yang,J.,
            Gudbjartsson,D., Heard-Costa,N.L., Randall,J.C., Qi,L., Vernon
            Smith,A., Magi,R., Pastinen,T., Liang,L., Heid,I.M., Luan,J.,
            Thorleifsson,G., Winkler,T.W., Goddard,M.E., Sin Lo,K., Palmer,C.,
            Workalemahu,T., Aulchenko,Y.S., Johansson,A., Zillikens,M.C.,
            Feitosa,M.F., Esko,T., Johnson,T., Ketkar,S., Kraft,P., Mangino,M.,
            Prokopenko,I., Absher,D., Albrecht,E., Ernst,F., Glazer,N.L.,
            Hayward,C., Hottenga,J.J., Jacobs,K.B., Knowles,J.W., Kutalik,Z.,
            Monda,K.L., Polasek,O., Preuss,M., Rayner,N.W., Robertson,N.R.,
            Steinthorsdottir,V., Tyrer,J.P., Voight,B.F., Wiklund,F., Xu,J.,
            Zhao,J.H., Nyholt,D.R., Pellikka,N., Perola,M., Perry,J.R.,
            Surakka,I., Tammesoo,M.L., Altmaier,E.L., Amin,N., Aspelund,T.,
            Bhangale,T., Boucher,G., Chasman,D.I., Chen,C., Coin,L.,
            Cooper,M.N., Dixon,A.L., Gibson,Q., Grundberg,E., Hao,K., Juhani
            Junttila,M., Kaplan,L.M., Kettunen,J., Konig,I.R., Kwan,T.,
            Lawrence,R.W., Levinson,D.F., Lorentzon,M., McKnight,B.,
            Morris,A.P., Muller,M., Suh Ngwa,J., Purcell,S., Rafelt,S.,
            Salem,R.M., Salvi,E., Sanna,S., Shi,J., Sovio,U., Thompson,J.R.,
            Turchin,M.C., Vandenput,L., Verlaan,D.J., Vitart,V., White,C.C.,
            Ziegler,A., Almgren,P., Balmforth,A.J., Campbell,H., Citterio,L.,
            De Grandi,A., Dominiczak,A., Duan,J., Elliott,P., Elosua,R.,
            Eriksson,J.G., Freimer,N.B., Geus,E.J., Glorioso,N., Haiqing,S.,
            Hartikainen,A.L., Havulinna,A.S., Hicks,A.A., Hui,J., Igl,W.,
            Illig,T., Jula,A., Kajantie,E., Kilpelainen,T.O., Koiranen,M.,
            Kolcic,I., Koskinen,S., Kovacs,P., Laitinen,J., Liu,J., Lokki,M.L.,
            Marusic,A., Maschio,A., Meitinger,T., Mulas,A., Pare,G.,
            Parker,A.N., Peden,J.F., Petersmann,A., Pichler,I.,
            Pietilainen,K.H., Pouta,A., Ridderstrale,M., Rotter,J.I.,
            Sambrook,J.G., Sanders,A.R., Schmidt,C.O., Sinisalo,J., Smit,J.H.,
            Stringham,H.M., Bragi Walters,G., Widen,E., Wild,S.H.,
            Willemsen,G., Zagato,L., Zgaga,L., Zitting,P., Alavere,H.,
            Farrall,M., McArdle,W.L., Nelis,M., Peters,M.J., Ripatti,S., van
            Meurs,J.B., Aben,K.K., Ardlie,K.G., Beckmann,J.S., Beilby,J.P.,
            Bergman,R.N., Bergmann,S., Collins,F.S., Cusi,D., den Heijer,M.,
            Eiriksdottir,G., Gejman,P.V., Hall,A.S., Hamsten,A., Huikuri,H.V.,
            Iribarren,C., Kahonen,M., Kaprio,J., Kathiresan,S., Kiemeney,L.,
            Kocher,T., Launer,L.J., Lehtimaki,T., Melander,O., Mosley,T.H. Jr.,
            Musk,A.W., Nieminen,M.S., O'Donnell,C.J., Ohlsson,C., Oostra,B.,
            Palmer,L.J., Raitakari,O., Ridker,P.M., Rioux,J.D., Rissanen,A.,
            Rivolta,C., Schunkert,H., Shuldiner,A.R., Siscovick,D.S.,
            Stumvoll,M., Tonjes,A., Tuomilehto,J., van Ommen,G.J., Viikari,J.,
            Heath,A.C., Martin,N.G., Montgomery,G.W., Province,M.A., Kayser,M.,
            Arnold,A.M., Atwood,L.D., Boerwinkle,E., Chanock,S.J., Deloukas,P.,
            Gieger,C., Gronberg,H., Hall,P., Hattersley,A.T., Hengstenberg,C.,
            Hoffman,W., Lathrop,G.M., Salomaa,V., Schreiber,S., Uda,M.,
            Waterworth,D., Wright,A.F., Assimes,T.L., Barroso,I., Hofman,A.,
            Mohlke,K.L., Boomsma,D.I., Caulfield,M.J., Cupples,L.A.,
            Erdmann,J., Fox,C.S., Gudnason,V., Gyllensten,U., Harris,T.B.,
            Hayes,R.B., Jarvelin,M.R., Mooser,V., Munroe,P.B., Ouwehand,W.H.,
            Penninx,B.W., Pramstaller,P.P., Quertermous,T., Rudan,I.,
            Samani,N.J., Spector,T.D., Volzke,H., Watkins,H., Wilson,J.F.,
            Groop,L.C., Haritunians,T., Hu,F.B., Kaplan,R.C., Metspalu,A.,
            North,K.E., Schlessinger,D., Wareham,N.J., Hunter,D.J.,
            O'Connell,J.R., Strachan,D.P., Wichmann,H.E., Borecki,I.B., van
            Duijn,C.M., Schadt,E.E., Thorsteinsdottir,U., Peltonen,L.,
            Uitterlinden,A.G., Visscher,P.M., Chatterjee,N., Loos,R.J.,
            Boehnke,M., McCarthy,M.I., Ingelsson,E., Lindgren,C.M.,
            Abecasis,G.R., Stefansson,K., Frayling,T.M. and Hirschhorn,J.N.
  TITLE     Hundreds of variants clustered in genomic loci and biological
            pathways affect human height
  JOURNAL   Nature 467 (7317), 832-838 (2010)
   PUBMED   20881960
REFERENCE   7  (bases 1 to 2450)
  AUTHORS   Birnbaum,S., Ludwig,K.U., Reutter,H., Herms,S., Steffens,M.,
            Rubini,M., Baluardo,C., Ferrian,M., Almeida de Assis,N.,
            Alblas,M.A., Barth,S., Freudenberg,J., Lauster,C., Schmidt,G.,
            Scheer,M., Braumann,B., Berge,S.J., Reich,R.H., Schiefke,F.,
            Hemprich,A., Potzsch,S., Steegers-Theunissen,R.P., Potzsch,B.,
            Moebus,S., Horsthemke,B., Kramer,F.J., Wienker,T.F., Mossey,P.A.,
            Propping,P., Cichon,S., Hoffmann,P., Knapp,M., Nothen,M.M. and
            Mangold,E.
  TITLE     Key susceptibility locus for nonsyndromic cleft lip with or without
            cleft palate on chromosome 8q24
  JOURNAL   Nat Genet 41 (4), 473-477 (2009)
   PUBMED   19270707
REFERENCE   8  (bases 1 to 2450)
  AUTHORS   Saeki,N., Usui,T., Aoyagi,K., Kim,D.H., Sato,M., Mabuchi,T.,
            Yanagihara,K., Ogawa,K., Sakamoto,H., Yoshida,T. and Sasaki,H.
  TITLE     Distinctive expression and function of four GSDM family genes
            (GSDMA-D) in normal and malignant upper gastrointestinal epithelium
  JOURNAL   Genes Chromosomes Cancer 48 (3), 261-271 (2009)
   PUBMED   19051310
  REMARK    GeneRIF: Study investigated the expression pattern of the GSDM
            family genes in the upper gastrointestinal epithelium and cancers.
REFERENCE   9  (bases 1 to 2450)
  AUTHORS   Tamura,M., Tanaka,S., Fujii,T., Aoki,A., Komiyama,H., Ezawa,K.,
            Sumiyama,K., Sagai,T. and Shiroishi,T.
  TITLE     Members of a novel gene family, Gsdm, are expressed exclusively in
            the epithelium of the skin and gastrointestinal tract in a highly
            tissue-specific manner
  JOURNAL   Genomics 89 (5), 618-629 (2007)
   PUBMED   17350798
REFERENCE   10 (bases 1 to 2450)
  AUTHORS   Watabe,K., Ito,A., Asada,H., Endo,Y., Kobayashi,T., Nakamoto,K.,
            Itami,S., Takao,S., Shinomura,Y., Aikou,T., Yoshikawa,K.,
            Matsuzawa,Y., Kitamura,Y. and Nojima,H.
  TITLE     Structure, expression and chromosome mapping of MLZE, a novel gene
            which is preferentially expressed in metastatic melanoma cells
  JOURNAL   Jpn J Cancer Res 92 (2), 140-151 (2001)
   PUBMED   11223543
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AB042405.1, DA437012.1 and BC063595.1.
            
            On Nov 23, 2018 this sequence version replaced NM_031415.2.
            
            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 :: AB042405.1, BC035321.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000276708.9/ ENSP00000276708.4
            RefSeq Select criteria :: based on expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-237               AB042405.1         276-512
            238-579             DA437012.1         242-583
            580-1266            BC063595.1         372-1058
            1267-2367           AB042405.1         1540-2640
            2368-2450           BC063595.1         2160-2242
FEATURES             Location/Qualifiers
     source          1..2450
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q24.21"
     gene            1..2450
                     /gene="GSDMC"
                     /gene_synonym="MLZE"
                     /note="gasdermin C"
                     /db_xref="GeneID:56169"
                     /db_xref="HGNC:HGNC:7151"
                     /db_xref="MIM:608384"
     exon            1..614
                     /gene="GSDMC"
                     /gene_synonym="MLZE"
                     /inference="alignment:Splign:2.1.0"
     exon            615..838
                     /gene="GSDMC"
                     /gene_synonym="MLZE"
                     /inference="alignment:Splign:2.1.0"
     CDS             619..2145
                     /gene="GSDMC"
                     /gene_synonym="MLZE"
                     /note="melanoma-derived leucine zipper, extra-nuclear
                     factor; melanoma-derived leucine zipper-containing
                     extranuclear factor"
                     /codon_start=1
                     /product="gasdermin-C"
                     /protein_id="NP_113603.1"
                     /db_xref="CCDS:CCDS6360.1"
                     /db_xref="GeneID:56169"
                     /db_xref="HGNC:HGNC:7151"
                     /db_xref="MIM:608384"
                     /translation="MPSMLERISKNLVKEIGSKDLTPVKYLLSATKLRQFVILRKKKD
                     SRSSFWEQSDYVPVEFSLNDILEPSSSVLETVVTGPFHFSDIMIQKHKADMGVNVGIE
                     VSVSGEASVDHGCSLEFQIVTIPSPNLEDFQKRKLLDPEPSFLKECRRRGDNLYVVTE
                     AVELINNTVLYDSSSVNILGKIALWITYGKGQGQGESLRVKKKALTLQKGMVMAYKRK
                     QLVIKEKAILISDDDEQRTFQDEYEISEMVGYCAARSEGLLPSFHTISPTLFNASSND
                     MKLKPELFLTQQFLSGHLPKYEQVHILPVGRIEEPFWQNFKHLQEEVFQKIKTLAQLS
                     KDVQDVMFYSILAMLRDRGALQDLMNMLELDSSGHLDGPGGAILKKLQQDSNHAWFNP
                     KDPILYLLEAIMVLSDFQHDLLACSMEKRILLQQQELVRSILEPNFRYPWSIPFTLKP
                     ELLAPLQSEGLAITYGLLEECGLRMELDNPRSTWDVEAKMPLSALYGTLSLLQQLAEA
                     "
     exon            839..1022
                     /gene="GSDMC"
                     /gene_synonym="MLZE"
                     /inference="alignment:Splign:2.1.0"
     exon            1023..1188
                     /gene="GSDMC"
                     /gene_synonym="MLZE"
                     /inference="alignment:Splign:2.1.0"
     exon            1189..1294
                     /gene="GSDMC"
                     /gene_synonym="MLZE"
                     /inference="alignment:Splign:2.1.0"
     exon            1295..1339
                     /gene="GSDMC"
                     /gene_synonym="MLZE"
                     /inference="alignment:Splign:2.1.0"
     exon            1340..1462
                     /gene="GSDMC"
                     /gene_synonym="MLZE"
                     /inference="alignment:Splign:2.1.0"
     exon            1463..1504
                     /gene="GSDMC"
                     /gene_synonym="MLZE"
                     /inference="alignment:Splign:2.1.0"
     exon            1505..1534
                     /gene="GSDMC"
                     /gene_synonym="MLZE"
                     /inference="alignment:Splign:2.1.0"
     exon            1535..1561
                     /gene="GSDMC"
                     /gene_synonym="MLZE"
                     /inference="alignment:Splign:2.1.0"
     exon            1562..1701
                     /gene="GSDMC"
                     /gene_synonym="MLZE"
                     /inference="alignment:Splign:2.1.0"
     exon            1702..1831
                     /gene="GSDMC"
                     /gene_synonym="MLZE"
                     /inference="alignment:Splign:2.1.0"
     exon            1832..1905
                     /gene="GSDMC"
                     /gene_synonym="MLZE"
                     /inference="alignment:Splign:2.1.0"
     exon            1906..2450
                     /gene="GSDMC"
                     /gene_synonym="MLZE"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2428..2433
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GSDMC"
                     /gene_synonym="MLZE"
                     /note="hexamer: AATAAA"
     polyA_site      2450
                     /gene="GSDMC"
                     /gene_synonym="MLZE"
                     /note="major polyA site"
ORIGIN      
        1 agatgccact tgattttgtt ccacagactt tttgctgagg acttgagagc taaggttctg
       61 tgatccagaa ctagttccag acttactctt ctggaaatga acagggccct cctgtgctta
      121 tttttccagg atactgcatt ggaaattgag tcagggaccc attggtgaga agagaacagt
      181 gaacagaatc acattgatct ggtcctggag tttgtctgac aatttctact tgaccgcagg
      241 aggtctgaag attggaaggg gccctactca attgtgctat ttttctctct tttttttttt
      301 tttgagacgg agttgcccag gctggagtgc agcggcatgg tctcagctca ctgcaacctc
      361 tgcctcccgg gttcaagcag ttctctgcct cagcctccca agtagctggg attacaggtg
      421 cctgccacca ttcctggcta atttttgtat tttcagtaga gacagggttt caccatcttg
      481 gcctggctga tcttgaactc ctgacctcgt gatccaccgg cctcagcctc ccaaagtgct
      541 gggattacag acgtgagcca ccgtgcccgg ccaatcctgc tatttctcta caggacaaag
      601 ggatatataa tctgcaacat gccctccatg ttggaacgca ttagcaaaaa tttggtcaaa
      661 gagattggaa gcaaagacct gacacctgtc aaatacctat tgagtgccac caaattacgt
      721 cagtttgtta tattacgaaa gaagaaggat tctcgttcat cattttggga acaatctgac
      781 tatgttccag ttgaattctc cctcaatgac atcctggagc caagttcttc agtcctagaa
      841 actgttgtga caggaccgtt ccacttcagt gacattatga tccagaagca taaggctgac
      901 atgggtgtga atgttggtat agaagtgagt gtgtcagggg aggcctctgt ggaccatgga
      961 tgctccctcg agtttcaaat tgttaccatc ccatcaccaa acctggaaga ctttcaaaaa
     1021 aggaaactgt tggatccaga gccatcattt ctgaaggagt gccggaggag aggggacaac
     1081 ctgtacgtgg tgacagaggc tgttgaactg atcaacaata ctgtgctgta cgatagcagt
     1141 agtgtgaata ttttagggaa aattgctctt tggattacct atggcaaggg tcaaggccaa
     1201 ggagagagtc tcagagtgaa gaagaaggcg ctgactcttc agaaaggcat ggtgatggct
     1261 tataagagaa agcagctggt tatcaaggag aaagccattc tcatctcaga tgatgatgaa
     1321 cagagaacct ttcaagatga gtacgaaatt tccgaaatgg taggctactg tgctgcgagg
     1381 agtgaggggt tgctaccatc atttcatacc atctctccaa ccctcttcaa tgcctcatcc
     1441 aatgatatga agttaaaacc agagctattt ctgacacagc aatttttgag cgggcatttg
     1501 ccaaaatacg aacaagttca catcctccca gtaggaagaa tagaggaacc cttctggcaa
     1561 aatttcaagc atctacaaga ggaggttttc cagaaaataa agacactggc tcagctctca
     1621 aaggatgttc aggatgtcat gttctacagt atcctggcca tgctcagaga cagaggggct
     1681 ctacaggacc tgatgaacat gctggaattg gacagctcag gtcatttgga tggccctggt
     1741 ggtgccatcc taaagaaact tcaacaggat tcaaaccatg catggtttaa cccaaaggac
     1801 cccattcttt atctccttga agccataatg gtgctgagtg acttccaaca cgatttgctg
     1861 gcctgttcca tggagaagag gatcctgctt cagcaacagg agctggtaag gagcatcctg
     1921 gagccaaact tcagataccc ctggagcatt cccttcaccc tcaaacctga gctcctcgcc
     1981 ccactccaga gtgagggttt ggccatcacc tatggcctgc tggaggagtg tggccttagg
     2041 atggagctgg ataaccccag gtcaacctgg gatgtagaag caaagatgcc cctgtctgcc
     2101 ctctatggga ctctctcgtt gctgcagcag ctggctgagg cctaagccct ccctgatggg
     2161 cagtcagtcc agagatgctg gccctcgccc agtctatgct gtgagtgtcc ttatgggtgc
     2221 aagagatagg gctgtgcctc tctgcgtttc caggtggagt agagacagta atgggtagag
     2281 actttaggaa atgttttggg gtggtggaat actctatata ttgacaagag tttatatatt
     2341 gacaagagtt tatatatttg tcaaaactcc tcaaatagta tgttaaagac gtaagcgttt
     2401 cactatgtat aaattttact tcaaaataat aaaaacaaat actgactcta
//
