LOCUS       NM_013258                757 bp    mRNA    linear   PRI 20-FEB-2025
DEFINITION  Homo sapiens PYD and CARD domain containing (PYCARD), transcript
            variant 1, mRNA.
ACCESSION   NM_013258
VERSION     NM_013258.5
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 757)
  AUTHORS   Huang,J., Dong,S., Wu,Y., Yi,H., Zhang,W. and Ai,X.
  TITLE     Sirtuin 6 Deacetylates Apoptosis-Associated Speck-Like Protein
            (ASC) to Inhibit Endothelial Cell Pyroptosis in Atherosclerosis
  JOURNAL   Int Heart J 65 (3), 466-474 (2024)
   PUBMED   38749754
  REMARK    GeneRIF: Sirtuin 6 Deacetylates Apoptosis-Associated Speck-Like
            Protein (ASC) to Inhibit Endothelial Cell Pyroptosis in
            Atherosclerosis.
REFERENCE   2  (bases 1 to 757)
  AUTHORS   Nurmi,K., Silventoinen,K., Keskitalo,S., Rajamaki,K., Kouri,V.P.,
            Kinnunen,M., Jalil,S., Maldonado,R., Wartiovaara,K., Nievas,E.I.,
            Denita-Juarez,S.P., Duncan,C.J.A., Kuismin,O., Saarela,J., Romo,I.,
            Martelius,T., Parantainen,J., Beklen,A., Bilicka,M., Matikainen,S.,
            Nordstrom,D.C., Kaustio,M., Wartiovaara-Kautto,U., Kilpivaara,O.,
            Klein,C., Hauck,F., Jahkola,T., Hautala,T., Varjosalo,M.,
            Barreto,G., Seppanen,M.R.J. and Eklund,K.K.
  TITLE     Truncating NFKB1 variants cause combined NLRP3 inflammasome
            activation and type I interferon signaling and predispose to
            necrotizing fasciitis
  JOURNAL   Cell Rep Med 5 (4), 101503 (2024)
   PUBMED   38593810
REFERENCE   3  (bases 1 to 757)
  AUTHORS   Daily,Z.A., Al-Ghurabi,B.H. and Al-Qarakhli,A.M.
  TITLE     PYCARD gene polymorphisms and susceptibility to periodontal and
            coronary heart diseases
  JOURNAL   J Med Life 17 (2), 195-200 (2024)
   PUBMED   38813354
  REMARK    GeneRIF: PYCARD gene polymorphisms and susceptibility to
            periodontal and coronary heart diseases.
REFERENCE   4  (bases 1 to 757)
  AUTHORS   Zhu,J., Ma,Y., Wang,J., Wang,Y., Ali,W., Zou,H., Zhao,H., Tong,X.,
            Song,R. and Liu,Z.
  TITLE     The Mechanism of Osteoprotegerin-Induced Osteoclast Pyroptosis In
            Vitro
  JOURNAL   Int J Mol Sci 24 (2), 1518 (2023)
   PUBMED   36675029
  REMARK    GeneRIF: The Mechanism of Osteoprotegerin-Induced Osteoclast
            Pyroptosis In Vitro.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 757)
  AUTHORS   Machtens,D.A., Bresch,I.P., Eberhage,J., Reubold,T.F. and
            Eschenburg,S.
  TITLE     The Inflammasome Activity of NLRP3 Is Independent of NEK7 in HEK293
            Cells Co-Expressing ASC
  JOURNAL   Int J Mol Sci 23 (18), 10269 (2022)
   PUBMED   36142182
  REMARK    GeneRIF: The Inflammasome Activity of NLRP3 Is Independent of NEK7
            in HEK293 Cells Co-Expressing ASC.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 757)
  AUTHORS   McConnell,B.B. and Vertino,P.M.
  TITLE     Activation of a caspase-9-mediated apoptotic pathway by subcellular
            redistribution of the novel caspase recruitment domain protein TMS1
  JOURNAL   Cancer Res 60 (22), 6243-6247 (2000)
   PUBMED   11103777
  REMARK    GeneRIF: Proapoptotic CARD protein. Subcellular redistribution into
            perinuclear spherical structure appears to precede the downstream
            activation of a caspase-9-mediated apoptotic pathway. Does not
            activate NK-kB-dependent transcription.
REFERENCE   7  (bases 1 to 757)
  AUTHORS   Conway,K.E., McConnell,B.B., Bowring,C.E., Donald,C.D., Warren,S.T.
            and Vertino,P.M.
  TITLE     TMS1, a novel proapoptotic caspase recruitment domain protein, is a
            target of methylation-induced gene silencing in human breast
            cancers
  JOURNAL   Cancer Res 60 (22), 6236-6242 (2000)
   PUBMED   11103776
  REMARK    GeneRIF: Same as TMS1(target of methylation-induced silencing-1).
            TMS1/ASC found to be inactivated in association with promoter
            region methylation in human breast cancer cell lines and tumors.
REFERENCE   8  (bases 1 to 757)
  AUTHORS   Lee,S.K., Na,S.Y., Jung,S.Y., Choi,J.E., Jhun,B.H., Cheong,J.,
            Meltzer,P.S., Lee,Y.C. and Lee,J.W.
  TITLE     Activating protein-1, nuclear factor-kappaB, and serum response
            factor as novel target molecules of the cancer-amplified
            transcription coactivator ASC-2
  JOURNAL   Mol Endocrinol 14 (6), 915-925 (2000)
   PUBMED   10847592
REFERENCE   9  (bases 1 to 757)
  AUTHORS   Masumoto,J., Taniguchi,S., Ayukawa,K., Sarvotham,H., Kishino,T.,
            Niikawa,N., Hidaka,E., Katsuyama,T., Higuchi,T. and Sagara,J.
  TITLE     ASC, a novel 22-kDa protein, aggregates during apoptosis of human
            promyelocytic leukemia HL-60 cells
  JOURNAL   J Biol Chem 274 (48), 33835-33838 (1999)
   PUBMED   10567338
REFERENCE   10 (bases 1 to 757)
  AUTHORS   Gu,Y., Sarnecki,C., Aldape,R.A., Livingston,D.J. and Su,M.S.
  TITLE     Cleavage of poly(ADP-ribose) polymerase by interleukin-1 beta
            converting enzyme and its homologs TX and Nedd-2
  JOURNAL   J Biol Chem 270 (32), 18715-18718 (1995)
   PUBMED   7642516
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AB023416.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_013258.4.
            
            Summary: This gene encodes an adaptor protein that is composed of
            two protein-protein interaction domains: a N-terminal
            PYRIN-PAAD-DAPIN domain (PYD) and a C-terminal caspase-recruitment
            domain (CARD). The PYD and CARD domains are members of the
            six-helix bundle death domain-fold superfamily that mediates
            assembly of large signaling complexes in the inflammatory and
            apoptotic signaling pathways via the activation of caspase. In
            normal cells, this protein is localized to the cytoplasm; however,
            in cells undergoing apoptosis, it forms ball-like aggregates near
            the nuclear periphery. Two transcript variants encoding different
            isoforms have been found for this gene. [provided by RefSeq, Jul
            2008].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer 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 :: AB023416.2, SRR1163655.432381.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000247470.10/ ENSP00000247470.9
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-757               AB023416.2         17-773
FEATURES             Location/Qualifiers
     source          1..757
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p11.2"
     gene            1..757
                     /gene="PYCARD"
                     /gene_synonym="ASC; CARD5; TMS; TMS-1; TMS1"
                     /note="PYD and CARD domain containing"
                     /db_xref="GeneID:29108"
                     /db_xref="HGNC:HGNC:16608"
                     /db_xref="MIM:606838"
     exon            1..344
                     /gene="PYCARD"
                     /gene_synonym="ASC; CARD5; TMS; TMS-1; TMS1"
                     /inference="alignment:Splign:2.1.0"
     CDS             71..658
                     /gene="PYCARD"
                     /gene_synonym="ASC; CARD5; TMS; TMS-1; TMS1"
                     /note="isoform a is encoded by transcript variant 1;
                     apoptosis-associated speck-like protein containing a CARD;
                     target of methylation-induced silencing 1; caspase
                     recruitment domain-containing protein 5"
                     /codon_start=1
                     /product="apoptosis-associated speck-like protein
                     containing a CARD isoform a"
                     /protein_id="NP_037390.2"
                     /db_xref="CCDS:CCDS10708.1"
                     /db_xref="GeneID:29108"
                     /db_xref="HGNC:HGNC:16608"
                     /db_xref="MIM:606838"
                     /translation="MGRARDAILDALENLTAEELKKFKLKLLSVPLREGYGRIPRGAL
                     LSMDALDLTDKLVSFYLETYGAELTANVLRDMGLQEMAGQLQAATHQGSGAAPAGIQA
                     PPQSAAKPGLHFIDQHRAALIARVTNVEWLLDALYGKVLTDEQYQAVRAEPTNPSKMR
                     KLFSFTPAWNWTCKDLLLQALRESQSYLVEDLERS"
     exon            345..401
                     /gene="PYCARD"
                     /gene_synonym="ASC; CARD5; TMS; TMS-1; TMS1"
                     /inference="alignment:Splign:2.1.0"
     exon            402..757
                     /gene="PYCARD"
                     /gene_synonym="ASC; CARD5; TMS; TMS-1; TMS1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      735..740
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PYCARD"
                     /gene_synonym="ASC; CARD5; TMS; TMS-1; TMS1"
                     /note="hexamer: AATATA"
     polyA_site      757
                     /gene="PYCARD"
                     /gene_synonym="ASC; CARD5; TMS; TMS-1; TMS1"
                     /note="major polyA site"
ORIGIN      
        1 ggagccgact tcctcctggt cggcggctgc agcggggtga gcggcggcag cggccgggga
       61 tcctggagcc atggggcgcg cgcgcgacgc catcctggat gcgctggaga acctgaccgc
      121 cgaggagctc aagaagttca agctgaagct gctgtcggtg ccgctgcgcg agggctacgg
      181 gcgcatcccg cggggcgcgc tgctgtccat ggacgccttg gacctcaccg acaagctggt
      241 cagcttctac ctggagacct acggcgccga gctcaccgct aacgtgctgc gcgacatggg
      301 cctgcaggag atggccgggc agctgcaggc ggccacgcac cagggctctg gagccgcgcc
      361 agctgggatc caggcccctc ctcagtcggc agccaagcca ggcctgcact ttatagacca
      421 gcaccgggct gcgcttatcg cgagggtcac aaacgttgag tggctgctgg atgctctgta
      481 cgggaaggtc ctgacggatg agcagtacca ggcagtgcgg gccgagccca ccaacccaag
      541 caagatgcgg aagctcttca gtttcacacc agcctggaac tggacctgca aggacttgct
      601 cctccaggcc ctaagggagt cccagtccta cctggtggag gacctggagc ggagctgagg
      661 ctccttccca gcaacactcc ggtcagcccc tggcaatccc accaaatcat cctgaatctg
      721 atctttttat acacaatata cgaaaagcca gcttgaa
//
