LOCUS       NM_152901                589 bp    mRNA    linear   PRI 09-JUN-2024
DEFINITION  Homo sapiens pyrin domain containing 1 (PYDC1), mRNA.
ACCESSION   NM_152901
VERSION     NM_152901.4
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 589)
  AUTHORS   Kocaaga,A., Cakmak Genc,G., Karakas Celik,S., Koca,R. and Dursun,A.
  TITLE     Association of NOD1, NOD2, PYDC1 and PYDC2 genes with Behcet's
            disease susceptibility and clinical manifestations
  JOURNAL   Ophthalmic Genet 42 (6), 691-697 (2021)
   PUBMED   34294014
  REMARK    GeneRIF: Association of NOD1, NOD2, PYDC1 and PYDC2 genes with
            Behcet's disease susceptibility and clinical manifestations.
REFERENCE   2  (bases 1 to 589)
  AUTHORS   Wang,Y. and Tatakis,D.N.
  TITLE     Human gingiva transcriptome during wound healing
  JOURNAL   J Clin Periodontol 44 (4), 394-402 (2017)
   PUBMED   28005267
  REMARK    GeneRIF: PYDC1 expression is significantly downregulated in human
            masticatory mucosa during wound healing
REFERENCE   3  (bases 1 to 589)
  AUTHORS   Arakelov,G.G., Osipov,O.V. and Nazaryan,K.B.
  TITLE     [Influence of M680I and M694V mutations on pyrin's domain B30.2
            tertiary structure and it's complex formation ability with
            caspase-1]
  JOURNAL   Mol Biol (Mosk) 49 (5), 826-831 (2015)
   PUBMED   26510601
  REMARK    GeneRIF: Changes in the tertiary structure of mutated pyrin B30.2
            domain interrupting the formation of the pyrin-caspase-1 complex
            are related to the manifestations of Mediterranean familial fever.
REFERENCE   4  (bases 1 to 589)
  AUTHORS   Porter,K.A., Duffy,E.B., Nyland,P., Atianand,M.K., Sharifi,H. and
            Harton,J.A.
  TITLE     The CLRX.1/NOD24 (NLRP2P) pseudogene codes a functional negative
            regulator of NF-kappaB, pyrin-only protein 4
  JOURNAL   Genes Immun 15 (6), 392-403 (2014)
   PUBMED   24871464
REFERENCE   5  (bases 1 to 589)
  AUTHORS   Do,K.H. and Park,H.H.
  TITLE     Crystallization and preliminary X-ray crystallographic studies of
            cPOP1
  JOURNAL   Acta Crystallogr Sect F Struct Biol Cryst Commun 69 (Pt 3), 292-294
            (2013)
   PUBMED   23519807
  REMARK    GeneRIF: X-ray diffraction data were collected to a resolution of
            3.6 A from a crystal belonging to the cubic space group P23 with
            unit-cell parameters a=b=c=94.12 A, alpha=beta=gamma=90.00 degrees
            .
REFERENCE   6  (bases 1 to 589)
  AUTHORS   Natarajan,A., Ghose,R. and Hill,J.M.
  TITLE     Structure and dynamics of ASC2, a pyrin domain-only protein that
            regulates inflammatory signaling
  JOURNAL   J Biol Chem 281 (42), 31863-31875 (2006)
   PUBMED   16905547
  REMARK    GeneRIF: ASC2 is a pyrin domain-only protein that regulates
            inflammatory signaling
REFERENCE   7  (bases 1 to 589)
  AUTHORS   Espejo,F. and Patarroyo,M.E.
  TITLE     Determining the 3D structure of human ASC2 protein involved in
            apoptosis and inflammation
  JOURNAL   Biochem Biophys Res Commun 340 (3), 860-864 (2006)
   PUBMED   16403450
  REMARK    GeneRIF: analysis of the 3D structure of human ASC2 protein
            involved in apoptosis and inflammation
REFERENCE   8  (bases 1 to 589)
  AUTHORS   Stehlik,C., Krajewska,M., Welsh,K., Krajewski,S., Godzik,A. and
            Reed,J.C.
  TITLE     The PAAD/PYRIN-only protein POP1/ASC2 is a modulator of
            ASC-mediated nuclear-factor-kappa B and pro-caspase-1 regulation
  JOURNAL   Biochem J 373 (Pt 1), 101-113 (2003)
   PUBMED   12656673
  REMARK    GeneRIF: POP1/ASC2 associates with ASC via PAAD-PAAD interactions
            and modulates NF-kappa B and pro-caspase-1 regulation by this
            adapter protein
REFERENCE   9  (bases 1 to 589)
  AUTHORS   Espejo,F., Green,M., Preece,N.E. and Assa-Munt,N.
  TITLE     NMR assignment of human ASC2, a self contained protein interaction
            domain involved in apoptosis and inflammation
  JOURNAL   J Biomol NMR 23 (2), 151-152 (2002)
   PUBMED   12153040
  REMARK    GeneRIF: NMR assignment of human ASC2, a self contained protein
            interaction domain involved in apoptosis and inflammation.
REFERENCE   10 (bases 1 to 589)
  AUTHORS   Pawlowski,K., Pio,F., Chu,Z., Reed,J.C. and Godzik,A.
  TITLE     PAAD - a new protein domain associated with apoptosis, cancer and
            autoimmune diseases
  JOURNAL   Trends Biochem Sci 26 (2), 85-87 (2001)
   PUBMED   11166558
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC009088.9 and AF086332.1.
            
            On Nov 27, 2019 this sequence version replaced NM_152901.3.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AY163727.1, AF086332.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145893, SAMEA2147596
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000302964.4/ ENSP00000304336.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-42                AC009088.9         100009-100050       c
            43-589              AF086332.1         1-547
FEATURES             Location/Qualifiers
     source          1..589
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p11.2"
     gene            1..589
                     /gene="PYDC1"
                     /gene_synonym="ASC2; cPOP1; POP1; PYC1"
                     /note="pyrin domain containing 1"
                     /db_xref="GeneID:260434"
                     /db_xref="HGNC:HGNC:30261"
                     /db_xref="MIM:615700"
     exon            1..393
                     /gene="PYDC1"
                     /gene_synonym="ASC2; cPOP1; POP1; PYC1"
                     /inference="alignment:Splign:2.1.0"
     CDS             108..377
                     /gene="PYDC1"
                     /gene_synonym="ASC2; cPOP1; POP1; PYC1"
                     /note="pyrin-only protein 1; PAAD-only protein 1; cellular
                     POP1; PYD (pyrin domain) containing 1"
                     /codon_start=1
                     /product="pyrin domain-containing protein 1"
                     /protein_id="NP_690865.1"
                     /db_xref="CCDS:CCDS10710.1"
                     /db_xref="GeneID:260434"
                     /db_xref="HGNC:HGNC:30261"
                     /db_xref="MIM:615700"
                     /translation="MGTKREAILKVLENLTPEELKKFKMKLGTVPLREGFERIPRGAL
                     GQLDIVDLTDKLVASYYEDYAAELVVAVLRDMRMLEEAARLQRAA"
     exon            394..589
                     /gene="PYDC1"
                     /gene_synonym="ASC2; cPOP1; POP1; PYC1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      566..571
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PYDC1"
                     /gene_synonym="ASC2; cPOP1; POP1; PYC1"
                     /note="hexamer: AATAAA"
     polyA_site      589
                     /gene="PYDC1"
                     /gene_synonym="ASC2; cPOP1; POP1; PYC1"
                     /note="major polyA site"
ORIGIN      
        1 agtctccttc ccgggacatc cccgggggcg gcagctccac ctgctgcagg aaaggtagga
       61 cctgatggct ccaggccctc ggaggctcag aggcgcaggg ctgagccatg ggaacgaagc
      121 gcgaggccat cctgaaggtg ctggagaacc tgacaccgga ggagctcaag aagttcaaga
      181 tgaagctggg gacggtgccg ctgcgcgagg gctttgagcg catcccgcgg ggcgcgctcg
      241 ggcagctaga tatcgtggac ctcaccgaca agctggtcgc ctcctactac gaggactacg
      301 cagccgagct cgtcgtggcc gtgctgcgcg acatgcgcat gttggaggag gccgcacggc
      361 tgcagcgggc tgcgtgaggg ccactctgag ctggaggcgg gtcaaggcaa aaggagtaat
      421 gcaacgcctg tgaagccagc cccacgcgcg caccagtcgc gtaagacaac agcagtgtct
      481 ccacctcggg gaccaaggac gcctccgtgc ctccagaccc cgcctcctcc agcccctgca
      541 cctgtcattt attcttccac tgcccaataa atattcatgg cagacttta
//
