LOCUS       NM_176810               3157 bp    mRNA    linear   PRI 03-APR-2024
DEFINITION  Homo sapiens NLR family pyrin domain containing 13 (NLRP13),
            transcript variant 1, mRNA.
ACCESSION   NM_176810
VERSION     NM_176810.2
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 3157)
  AUTHORS   Amin,J., Boche,D. and Rakic,S.
  TITLE     What do we know about the inflammasome in humans?
  JOURNAL   Brain Pathol 27 (2), 192-204 (2017)
   PUBMED   27997042
  REMARK    Review article
REFERENCE   2  (bases 1 to 3157)
  AUTHORS   Kennedy,R.B., Ovsyannikova,I.G., Pankratz,V.S., Haralambieva,I.H.,
            Vierkant,R.A. and Poland,G.A.
  TITLE     Genome-wide analysis of polymorphisms associated with cytokine
            responses in smallpox vaccine recipients
  JOURNAL   Hum Genet 131 (9), 1403-1421 (2012)
   PUBMED   22610502
REFERENCE   3  (bases 1 to 3157)
  AUTHORS   Cummings,J.R., Cooney,R.M., Clarke,G., Beckly,J., Geremia,A.,
            Pathan,S., Hancock,L., Guo,C., Cardon,L.R. and Jewell,D.P.
  TITLE     The genetics of NOD-like receptors in Crohn's disease
  JOURNAL   Tissue Antigens 76 (1), 48-56 (2010)
   PUBMED   20403135
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   4  (bases 1 to 3157)
  AUTHORS   Enjuanes,A., Benavente,Y., Bosch,F., Martin-Guerrero,I.,
            Colomer,D., Perez-Alvarez,S., Reina,O., Ardanaz,M.T., Jares,P.,
            Garcia-Orad,A., Pujana,M.A., Montserrat,E., de Sanjose,S. and
            Campo,E.
  TITLE     Genetic variants in apoptosis and immunoregulation-related genes
            are associated with risk of chronic lymphocytic leukemia
  JOURNAL   Cancer Res 68 (24), 10178-10186 (2008)
   PUBMED   19074885
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   5  (bases 1 to 3157)
  AUTHORS   Ting,J.P., Lovering,R.C., Alnemri,E.S., Bertin,J., Boss,J.M.,
            Davis,B.K., Flavell,R.A., Girardin,S.E., Godzik,A., Harton,J.A.,
            Hoffman,H.M., Hugot,J.P., Inohara,N., Mackenzie,A., Maltais,L.J.,
            Nunez,G., Ogura,Y., Otten,L.A., Philpott,D., Reed,J.C., Reith,W.,
            Schreiber,S., Steimle,V. and Ward,P.A.
  TITLE     The NLR gene family: a standard nomenclature
  JOURNAL   Immunity 28 (3), 285-287 (2008)
   PUBMED   18341998
REFERENCE   6  (bases 1 to 3157)
  AUTHORS   Inohara,N. and Nunez,G.
  TITLE     NODs: intracellular proteins involved in inflammation and apoptosis
  JOURNAL   Nat Rev Immunol 3 (5), 371-382 (2003)
   PUBMED   12766759
  REMARK    Review article
REFERENCE   7  (bases 1 to 3157)
  AUTHORS   Tschopp,J., Martinon,F. and Burns,K.
  TITLE     NALPs: a novel protein family involved in inflammation
  JOURNAL   Nat Rev Mol Cell Biol 4 (2), 95-104 (2003)
   PUBMED   12563287
  REMARK    Review article
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BK001108.1, AY154468.1 and
            AC012310.5.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jul 22, 2006 this sequence version replaced NM_176810.1.
            
            Summary: This gene encodes a member of the NACHT, leucine rich
            repeat, and PYD containing (NLRP) protein family. It has an
            N-terminal pyrin domain, followed by a NACHT domain, a
            NACHT-associated domain (NAD), and a C-terminal leucine-rich repeat
            (LRR) region. NLRP proteins are implicated in the activation of
            proinflammatory caspases through multiprotein complexes called
            inflammasomes. Alternative splicing results in multiple transcript
            variants encoding different isoforms. [provided by RefSeq, Mar
            2016].
            
            ##Evidence-Data-START##
            Transcript exon combination :: AY154468.1 [ECO:0000332]
            RNAseq introns              :: partial sample support SAMEA1968968,
                                           SAMEA2148093 [ECO:0000350]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000342929.4/ ENSP00000343891.3
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2895              BK001108.1         1-2895
            2896-3155           AY154468.1         2871-3130
            3156-3157           AC012310.5         88359-88360         c
FEATURES             Location/Qualifiers
     source          1..3157
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.43"
     gene            1..3157
                     /gene="NLRP13"
                     /gene_synonym="CLR19.7; NALP13; NOD14; PAN13"
                     /note="NLR family pyrin domain containing 13"
                     /db_xref="GeneID:126204"
                     /db_xref="HGNC:HGNC:22937"
                     /db_xref="MIM:609660"
     exon            1..344
                     /gene="NLRP13"
                     /gene_synonym="CLR19.7; NALP13; NOD14; PAN13"
                     /inference="alignment:Splign:2.1.0"
     CDS             26..3157
                     /gene="NLRP13"
                     /gene_synonym="CLR19.7; NALP13; NOD14; PAN13"
                     /note="isoform 1 is encoded by transcript variant 1;
                     NACHT, leucine rich repeat and PYD containing 13;
                     nucleotide-binding oligomerization domain, leucine rich
                     repeat and pyrin domain containing 13; NACHT, LRR and PYD
                     containing protein 13; NACHT, LRR and PYD
                     domains-containing protein 13; nucleotide-binding
                     oligomerization domain protein 14"
                     /codon_start=1
                     /product="NACHT, LRR and PYD domains-containing protein 13
                     isoform 1"
                     /protein_id="NP_789780.2"
                     /db_xref="CCDS:CCDS33119.1"
                     /db_xref="GeneID:126204"
                     /db_xref="HGNC:HGNC:22937"
                     /db_xref="MIM:609660"
                     /translation="MNFSVITCPNGGTNQGLLPYLMALDQYQLEEFKLCLEPQQLMDF
                     WSAPQGHFPRIPWANLRAADPLNLSFLLDEHFPKGQAWKVVLGIFQTMNLTSLCEKVR
                     AEMKENVQTQELQDPTQEDLEMLEAAAGNMQTQGCQDPNQEELDELEEETGNVQAQGC
                     QDPNQEEPEMLEEADHRRKYRENMKAELLETWDNISWPKDHVYIRNTSKDEHEELQRL
                     LDPNRTRAQAQTIVLVGRAGVGKTTLAMQAMLHWANGVLFQQRFSYVFYLSCHKIRYM
                     KETTFAELISLDWPDFDAPIEEFMSQPEKLLFIIDGFEEIIISESRSESLDDGSPCTD
                     WYQELPVTKILHSLLKKELVPLATLLITIKTWFVRDLKASLVNPCFVQITGFTGDDLR
                     VYFMRHFDDSSEVEKILQQLRKNETLFHSCSAPMVCWTVCSCLKQPKVRYYDLQSITQ
                     TTTSLYAYFFSNLFSTAEVDLADDSWPGQWRALCSLAIEGLWSMNFTFNKEDTEIEGL
                     EVPFIDSLYEFNILQKINDCGGCTTFTHLSFQEFFAAMSFVLEEPREFPPHSTKPQEM
                     KMLLQHVLLDKEAYWTPVVLFFFGLLNKNIARELEDTLHCKISPRVMEELLKWGEELG
                     KAESASLQFHILRLFHCLHESQEEDFTKKMLGRIFEVDLNILEDEELQASSFCLKHCK
                     RLNKLRLSVSSHILERDLEILETSKFDSRMHAWNSICSTLVTNENLHELDLSNSKLHA
                     SSVKGLCLALKNPRCKVQKLTCKSVTPEWVLQDLIIALQGNSKLTHLNFSSNKLGMTV
                     PLILKALRHSACNLKYLCLEKCNLSAASCQDLALFLTSIQHVTRLCLGFNRLQDDGIK
                     LLCAALTHPKCALERLELWFCQLAAPACKHLSDALLQNRSLTHLNLSKNSLRDEGVKF
                     LCEALGRPDGNLQSLNLSGCSFTREGCGELANALSHNHNVKILDLGENDLQDDGVKLL
                     CEALKPHRALHTLGLAKCNLTTACCQHLFSVLSSSKSLVNLNLLGNELDTDGVKMLCK
                     ALKKSTCRLQKLG"
     exon            345..413
                     /gene="NLRP13"
                     /gene_synonym="CLR19.7; NALP13; NOD14; PAN13"
                     /inference="alignment:Splign:2.1.0"
     exon            414..482
                     /gene="NLRP13"
                     /gene_synonym="CLR19.7; NALP13; NOD14; PAN13"
                     /inference="alignment:Splign:2.1.0"
     exon            483..548
                     /gene="NLRP13"
                     /gene_synonym="CLR19.7; NALP13; NOD14; PAN13"
                     /inference="alignment:Splign:2.1.0"
     exon            549..2136
                     /gene="NLRP13"
                     /gene_synonym="CLR19.7; NALP13; NOD14; PAN13"
                     /inference="alignment:Splign:2.1.0"
     exon            2137..2307
                     /gene="NLRP13"
                     /gene_synonym="CLR19.7; NALP13; NOD14; PAN13"
                     /inference="alignment:Splign:2.1.0"
     exon            2308..2472
                     /gene="NLRP13"
                     /gene_synonym="CLR19.7; NALP13; NOD14; PAN13"
                     /inference="alignment:Splign:2.1.0"
     exon            2473..2643
                     /gene="NLRP13"
                     /gene_synonym="CLR19.7; NALP13; NOD14; PAN13"
                     /inference="alignment:Splign:2.1.0"
     exon            2644..2814
                     /gene="NLRP13"
                     /gene_synonym="CLR19.7; NALP13; NOD14; PAN13"
                     /inference="alignment:Splign:2.1.0"
     exon            2815..2982
                     /gene="NLRP13"
                     /gene_synonym="CLR19.7; NALP13; NOD14; PAN13"
                     /inference="alignment:Splign:2.1.0"
     exon            2983..3157
                     /gene="NLRP13"
                     /gene_synonym="CLR19.7; NALP13; NOD14; PAN13"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 tgagaaactg catgtgttgg gcaagatgaa cttttctgta atcacctgcc ccaacggtgg
       61 taccaaccaa gggcttctgc cttacctgat ggccctggat cagtatcagc tggaggaatt
      121 caagctttgc ttggaacccc agcagctgat ggacttctgg tcggcccccc aggggcactt
      181 cccgcgtatc ccctgggcaa acttgagagc tgccgaccct ttgaatctgt cctttctttt
      241 ggatgaacac ttcccaaaag gtcaggcatg gaaagtggtc ctcggcatct tccagacaat
      301 gaatctgacc tcactgtgtg agaaagttag agccgagatg aaagagaatg tgcagaccca
      361 agagctgcaa gatccaaccc aggaagatct agagatgcta gaagcagcag cagggaatat
      421 gcagacccag ggatgccaag atccaaacca agaagaacta gacgagctag aagaagaaac
      481 agggaatgta caggcccagg gatgccaaga tccaaaccaa gaagaaccag agatgctaga
      541 ggaagcagac cacagaagaa aatacagaga gaacatgaag gctgaactac tggagacatg
      601 ggacaacatc agttggccta aagaccacgt atatatccgt aatacatcaa aggacgaaca
      661 tgaggaactg cagcgcctac tggatcctaa taggactaga gcccaggccc agacgatagt
      721 cttggtgggg agggcagggg ttgggaagac caccttggca atgcaggcta tgctgcactg
      781 ggcaaatgga gttctctttc agcaaaggtt ctcctatgtt ttctatctca gctgccataa
      841 aataaggtac atgaaggaaa ctacctttgc tgaattgatt tctttggatt ggcccgattt
      901 tgatgccccc attgaagagt tcatgtctca accagagaag ctcctgttta ttattgatgg
      961 ctttgaggaa ataatcatat ctgagtcacg ctctgagagc ttggatgatg gctcgccatg
     1021 tacagactgg taccaggagc tcccagtgac caaaatccta cacagcttgt tgaagaaaga
     1081 attggttccc ctggctacct tactgatcac gatcaagacc tggtttgtga gagatcttaa
     1141 ggcctcatta gtgaatccat gctttgtaca aattacaggg ttcacagggg acgacctacg
     1201 ggtatatttc atgagacact ttgatgactc aagtgaagtt gagaaaatcc tgcagcagct
     1261 aagaaaaaac gaaactctct ttcattcctg cagtgccccc atggtgtgtt ggaccgtatg
     1321 ttcctgtctg aagcagccga aggtgaggta ttacgatctc cagtcaatca ctcagactac
     1381 caccagtctg tatgcctatt ttttctccaa cttgttctcc acagcagagg tagatttggc
     1441 agatgacagc tggccaggac aatggagggc cctctgcagt ctggccatag aagggctgtg
     1501 gtctatgaac ttcacgttta acaaagaaga cactgagatc gagggcctgg aagtgccttt
     1561 cattgattct ctctacgagt tcaatattct tcaaaagatc aatgactgtg ggggttgcac
     1621 tactttcacc cacctaagtt tccaggagtt ttttgcagcc atgtcctttg tgctagagga
     1681 acctagagaa ttccctcccc attccacaaa gccacaagag atgaagatgt tactgcaaca
     1741 cgtcttgctt gacaaagaag cctactggac tccagtggtt ctgttcttct ttggtctttt
     1801 aaataaaaac atagcaagag aactggaaga tactttgcat tgtaaaatat ctcccagggt
     1861 aatggaggaa ttattaaagt ggggagaaga gttaggtaag gctgaaagtg cctctctcca
     1921 atttcacatt ctacgacttt ttcactgcct acacgagtcc caggaggaag acttcacaaa
     1981 gaagatgttg ggtcgtatct ttgaagttga ccttaatatt ttggaggacg aagaactcca
     2041 agcttcttca ttttgcctaa agcactgtaa aaggttaaat aagctaaggc tttctgttag
     2101 cagtcacatc cttgaaaggg acttggaaat tctggagaca agcaagtttg attccaggat
     2161 gcacgcatgg aacagcattt gctctacgtt ggtcacaaat gagaatctgc atgagctaga
     2221 cctgagtaac agcaaacttc atgcttcctc tgtgaagggt ctctgtcttg cactgaaaaa
     2281 tccaagatgc aaagtccaga aactgacgtg caaatcggta actcctgagt gggttctgca
     2341 ggacctcatt attgcccttc agggtaacag caagctgacc catctgaact tcagctctaa
     2401 caagctggga atgactgtcc ccctgattct taaagctttg agacactcag cttgcaacct
     2461 caagtatctg tgcctggaga aatgcaactt gtcggcagcc agctgtcagg acctagcctt
     2521 gtttctcacc agcatccaac acgtaactcg attgtgcctg ggatttaatc ggctccaaga
     2581 tgatggcata aagctattgt gtgcggccct gactcacccc aagtgtgcct tagagagact
     2641 ggagctctgg ttttgccagc tggcagcacc cgcttgcaag cacttgtcag atgctctcct
     2701 gcagaacagg agcctgacac acctgaatct gagcaagaac agcctgagag acgagggagt
     2761 caagttcctg tgtgaggcct tgggtcgccc agatggtaac ctgcagagcc tgaatttgtc
     2821 aggttgttct ttcacaagag agggctgtgg agagctggct aatgccctca gccataatca
     2881 taatgtgaaa atcttggatt tgggagaaaa tgatcttcag gatgatggag tgaagctact
     2941 gtgtgaggct ctgaaaccac atcgtgcatt gcacacactt gggttggcga aatgcaatct
     3001 gacaactgct tgctgccagc atctcttctc tgttctcagc agcagtaaga gcctggtcaa
     3061 tctgaacctt ctaggcaatg aattggatac tgatggtgtc aagatgctat gtaaggcttt
     3121 gaaaaagtcg acatgcaggc tgcagaaact cgggtaa
//
