LOCUS       NM_176811               3934 bp    mRNA    linear   PRI 10-OCT-2024
DEFINITION  Homo sapiens NLR family pyrin domain containing 8 (NLRP8),
            transcript variant 1, mRNA.
ACCESSION   NM_176811
VERSION     NM_176811.2
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 3934)
  AUTHORS   Rovelet-Lecrux,A., Legallic,S., Wallon,D., Flaman,J.M.,
            Martinaud,O., Bombois,S., Rollin-Sillaire,A., Michon,A., Le Ber,I.,
            Pariente,J., Puel,M., Paquet,C., Croisile,B., Thomas-Anterion,C.,
            Vercelletto,M., Levy,R., Frebourg,T., Hannequin,D. and Campion,D.
  CONSRTM   Investigators of the GMAJ project
  TITLE     A genome-wide study reveals rare CNVs exclusive to extreme
            phenotypes of Alzheimer disease
  JOURNAL   Eur J Hum Genet 20 (6), 613-617 (2012)
   PUBMED   22166940
REFERENCE   2  (bases 1 to 3934)
  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   3  (bases 1 to 3934)
  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   4  (bases 1 to 3934)
  AUTHORS   Zhang,P., Dixon,M., Zucchelli,M., Hambiliki,F., Levkov,L.,
            Hovatta,O. and Kere,J.
  TITLE     Expression analysis of the NLRP gene family suggests a role in
            human preimplantation development
  JOURNAL   PLoS One 3 (7), e2755 (2008)
   PUBMED   18648497
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3934)
  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   6  (bases 1 to 3934)
  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 BK001109.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Aug 15, 2003 this sequence version replaced NM_176811.1.
            
            Summary: This gene encodes a member of the nucleotide-binding
            oligomerization domain/ leucine rich repeat/ pyrin domain
            containing (NLRP) subfamily, which belongs to the Nod-like receptor
            family of proteins. NLRP genes play roles in the mammalian innate
            immune system through inflammasome formation and activation of
            caspases. In addition, NLRP genes have been found to function
            during mammalian reproduction. Consistent with a function during
            human preimplantation development, this gene is expressed at high
            levels in oocytes with decreased levels in embryos. Alternative
            splicing results in multiple transcript variants. [provided by
            RefSeq, Sep 2016].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: BK001109.1 [ECO:0000332]
            RNAseq introns              :: partial sample support SAMEA2148874
                                           [ECO:0000350]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000291971.7/ ENSP00000291971.3
            RefSeq Select criteria :: based on conservation
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..3934
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.43"
     gene            1..3934
                     /gene="NLRP8"
                     /gene_synonym="CLR19.2; NALP8; NOD16; PAN4"
                     /note="NLR family pyrin domain containing 8"
                     /db_xref="GeneID:126205"
                     /db_xref="HGNC:HGNC:22940"
                     /db_xref="MIM:609659"
     exon            1..438
                     /gene="NLRP8"
                     /gene_synonym="CLR19.2; NALP8; NOD16; PAN4"
                     /inference="alignment:Splign:2.1.0"
     CDS             72..3218
                     /gene="NLRP8"
                     /gene_synonym="CLR19.2; NALP8; NOD16; PAN4"
                     /note="isoform 1 is encoded by transcript variant 1;
                     NACHT, leucine rich repeat and PYD containing 8;
                     nucleotide-binding oligomerization domain, leucine rich
                     repeat and pyrin domain containing 8; NACHT, LRR and PYD
                     domains-containing protein 8; PYRIN and NACHT-containing
                     protein 4; nucleotide-binding oligomerization domain
                     protein 16"
                     /codon_start=1
                     /product="NACHT, LRR and PYD domains-containing protein 8
                     isoform 1"
                     /protein_id="NP_789781.2"
                     /db_xref="CCDS:CCDS12937.1"
                     /db_xref="GeneID:126205"
                     /db_xref="HGNC:HGNC:22940"
                     /db_xref="MIM:609659"
                     /translation="MSDVNPPSDTPIPFSSSSTHSSHIPPWTFSCYPGSPCENGVMLY
                     MRNVSHEELQRFKQLLLTELSTGTMPITWDQVETASWAEVVHLLIERFPGRRAWDVTS
                     NIFAIMNCDKMCVVVRREINAILPTLEPEDLNVGETQVNLEEGESGKIRRYKSNVMEK
                     FFPIWDITTWPGNQRDFFYQGVHRHEEYLPCLLLPKRPQGRQPKTVAIQGAPGIGKTI
                     LAKKVMFEWARNKFYAHKRWCAFYFHCQEVNQTTDQSFSELIEQKWPGSQDLVSKIMS
                     KPDQLLLLLDGFEELTSTLIDRLEDLSEDWRQKLPGSVLLSSLLSKTMLPEATLLIMI
                     RFTSWQTCKPLLKCPSLVTLPGFNTMEKIKYFQMYFGHTEEGDQVLSFAMENTILFSM
                     CRVPVVCWMVCSGLKQQMERGNNLTQSCPNATSVFVRYISSLFPTRAENFSRKIHQAQ
                     LEGLCHLAADSMWHRKWVLGKEDLEEAKLDQTGVTAFLGMSILRRIAGEEDHYVFTLV
                     TFQEFFAALFYVLCFPQRLKNFHVLSHVNIQRLIASPRGSKSYLSHMGLFLFGFLNEA
                     CASAVEQSFQCKVSFGNKRKLLKVIPLLHKCDPPSPGSGVPQLFYCLHEIREEAFVSQ
                     ALNDYHKVVLRIGNNKEVQVSAFCLKRCQYLHEVELTVTLNFMNVWKLSSSSHPGSEA
                     PESNGLHRWWQDLCSVFATNDKLEVLTMTNSVLGPPFLKALAAALRHPQCKLQKLLLR
                     RVNSTMLNQDLIGVLTGNQHLRYLEIQHVEVESKAVKLLCRVLRSPRCRLQCLRLEDC
                     LATPRIWTDLGNNLQGNGHLKTLILRKNSLENCGAYYLSVAQLERLSIENCNLTQLTC
                     ESLASCLRQSKMLTHLSLAENALKDEGAKHIWNALPHLRCPLQRLVLRKCDLTFNCCQ
                     DMISALCKNKTLKSLDLSFNSLKDDGVILLCEALKNPDCTLQILELENCLFTSICCQA
                     MASMLRKNQHLRHLDLSKNAIGVYGILTLCEAFSSQKKREEVIFCIPAWTRITSFSPT
                     PHPPDFTGKSDCLSQINP"
     exon            439..513
                     /gene="NLRP8"
                     /gene_synonym="CLR19.2; NALP8; NOD16; PAN4"
                     /inference="alignment:Splign:2.1.0"
     exon            514..2113
                     /gene="NLRP8"
                     /gene_synonym="CLR19.2; NALP8; NOD16; PAN4"
                     /inference="alignment:Splign:2.1.0"
     exon            2114..2284
                     /gene="NLRP8"
                     /gene_synonym="CLR19.2; NALP8; NOD16; PAN4"
                     /inference="alignment:Splign:2.1.0"
     exon            2285..2452
                     /gene="NLRP8"
                     /gene_synonym="CLR19.2; NALP8; NOD16; PAN4"
                     /inference="alignment:Splign:2.1.0"
     exon            2453..2605
                     /gene="NLRP8"
                     /gene_synonym="CLR19.2; NALP8; NOD16; PAN4"
                     /inference="alignment:Splign:2.1.0"
     exon            2606..2776
                     /gene="NLRP8"
                     /gene_synonym="CLR19.2; NALP8; NOD16; PAN4"
                     /inference="alignment:Splign:2.1.0"
     exon            2777..2947
                     /gene="NLRP8"
                     /gene_synonym="CLR19.2; NALP8; NOD16; PAN4"
                     /inference="alignment:Splign:2.1.0"
     exon            2948..3118
                     /gene="NLRP8"
                     /gene_synonym="CLR19.2; NALP8; NOD16; PAN4"
                     /inference="alignment:Splign:2.1.0"
     exon            3119..3934
                     /gene="NLRP8"
                     /gene_synonym="CLR19.2; NALP8; NOD16; PAN4"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 gtctcgtgtt tctctcttcc aatcggttgt ctttatcgtg gacactgagg tgttctctgc
       61 cttgactaaa gatgagtgac gtgaatccac cctctgacac ccccattccc ttttcatcct
      121 cctccactca cagttctcat attccgccct ggacattctc ttgctacccc ggctccccat
      181 gtgaaaatgg ggtcatgctg tacatgagaa acgtgagcca tgaggagcta caacggttca
      241 agcagctctt actgactgag ctcagtactg gcaccatgcc catcacctgg gaccaggtcg
      301 agacagccag ctgggcagag gtggttcatc tcttgataga gcgtttccct ggacgacgcg
      361 cttgggatgt gacttcgaac atctttgcca ttatgaactg tgataaaatg tgtgttgtag
      421 tccgcagaga gataaatgcc attctgccta ccttggaacc agaggacttg aatgtgggag
      481 aaacacaggt gaatctggag gaaggagaat ctggtaaaat acggcggtat aaatcgaatg
      541 tgatggaaaa gtttttcccc atatgggaca ttacgacttg gcctggaaac cagagggact
      601 tcttctacca aggtgtacac aggcacgagg agtacttacc atgtctgctt ctgcccaaaa
      661 gaccccaggg tagacagccc aagaccgtgg ccatacaggg agctcctggg atcggaaaaa
      721 caatcctggc caaaaaggtg atgtttgagt gggccagaaa caagttctac gcccacaagc
      781 gctggtgtgc tttctacttc cattgccaag aggtgaacca gacgacagac cagagcttct
      841 ccgagctgat tgagcaaaag tggcctggat ctcaggacct cgtgtcaaag attatgtcca
      901 aacccgacca acttctgctg ctcttggatg gctttgagga gctcacatct accctcattg
      961 acagactgga ggacctgagt gaagactgga ggcagaaatt gcctgggtct gtcctactga
     1021 gcagtttgct gagcaaaacg atgcttccag aggccacgct actgatcatg ataagattta
     1081 cctcttggca gacatgcaag cccttgctga aatgtccctc tctcgtaacc cttccggggt
     1141 ttaatacgat ggaaaaaatc aagtatttcc agatgtattt tggacacaca gaggagggag
     1201 accaagtctt gagtttcgcc atggaaaaca ccattctctt ctccatgtgc cgggtccctg
     1261 tggtttgctg gatggtctgc tctggtctga aacagcaaat ggagagagga aacaatctca
     1321 cacagtcatg tccaaatgcc acctctgtgt tcgtccggta tatttctagc ttgtttccca
     1381 ccagagctga gaacttttcc agaaagatcc accaagcaca actggaaggt ctgtgtcact
     1441 tggccgcaga cagcatgtgg cacaggaaat gggtgttagg taaagaagat cttgaggaag
     1501 ccaagctgga tcagacggga gtcaccgcct tccttggcat gagtattctt cggagaattg
     1561 caggtgagga agaccactat gtctttaccc tcgtgacttt tcaggaattt tttgcggcct
     1621 tgttttatgt tctctgtttc ccacaaagac tcaaaaattt tcatgtgttg agccacgtga
     1681 atatccagcg cctgatagcg agtcccagag gaagcaaaag ctatctctct cacatgggac
     1741 ttttcttatt cggttttctg aacgaggcct gcgcttcggc cgtggaacag tcattccaat
     1801 gcaaggtgtc tttcggtaat aagaggaaac tgctgaaagt catacctctg ttgcataaat
     1861 gtgacccacc ttctccgggc agtggggtcc cgcagttatt ctactgtctg catgaaatcc
     1921 gggaggaagc ctttgtaagc caagccctaa atgattatca taaagttgtc ttgagaattg
     1981 gcaacaacaa agaagttcaa gtgtctgctt tttgcctgaa gcggtgtcaa tatttgcatg
     2041 aggtggaact gaccgtcacc ctgaacttca tgaacgtgtg gaagctcagc tccagctccc
     2101 atcctggctc tgaagcgcca gagagcaatg ggctgcatcg ttggtggcaa gacttatgct
     2161 ctgtgtttgc aacgaatgat aagctggaag tcctgactat gaccaacagt gttttggggc
     2221 ctcctttttt gaaggctctc gcggccgcac tgaggcaccc tcagtgcaaa ctgcaaaagc
     2281 tactcctaag gcgtgtgaat agcaccatgt tgaaccagga cttaatcggt gttttgacgg
     2341 ggaaccagca tctgagatac ttggaaatac aacatgtgga agtggagtcc aaagctgtga
     2401 agcttctatg cagggtgctg agatcccccc ggtgccgtct gcagtgtctc aggttggaag
     2461 actgcttggc cacccctaga atttggactg atcttggcaa taatcttcaa ggtaacgggc
     2521 atctaaagac tctcatacta agaaaaaact ccctggagaa ctgtggggcg tattacctgt
     2581 ctgtggccca gctggagagg ctgtcgatag agaactgcaa ccttacacag cttacttgtg
     2641 aaagccttgc ctcctgtctc aggcagagta agatgctgac ccacctgagc ttggcagaaa
     2701 acgccttgaa agatgaaggg gccaagcata tttggaatgc cctgccacac ctgagatgtc
     2761 ctctgcagag gctggtactg agaaagtgtg acttgacctt taattgctgt caggatatga
     2821 tctctgcgct ctgtaaaaat aaaaccctga aaagtcttga cctaagtttt aatagcctga
     2881 aggatgatgg ggtgatcctg ctgtgtgagg ccctgaagaa ccctgactgt acattacaga
     2941 tcctggagct ggaaaactgc ctgttcacct ccatctgctg ccaggccatg gcttccatgc
     3001 tccgcaaaaa ccaacatctg agacatctgg acttgagcaa gaatgcgatt ggagtctatg
     3061 gtattctgac cttgtgcgag gccttctcaa gccaaaagaa gagagaagag gtcattttct
     3121 gtattcctgc ctggactcga ataactagct tctccccaac tcctcaccca cccgacttca
     3181 cgggaaaaag tgactgccta tcccagatta atccttaggc cgtccagtca tctttctctg
     3241 gggcttgatt gatcagttcc cactctgaca actggcaaat accaggcgtt atcatcctgt
     3301 atgcattaac gtactttccc ctgaaacaga gcaacccagt caacaccaca gaacctcagc
     3361 tttgaaccct ggagtgagga cggtgatgcc ctgtgtgtat taatatgcta tgtaaggctg
     3421 ggcgtggtgg ctcacgcctg taacccagca ctatgggagg tcgaggtggg cagattacct
     3481 gaggtcagga gttccagacc agcctggcca acatggtgaa accccgcctc tactaaaaaa
     3541 aaaaatacaa aaaattaggc gtggtggtgg gctcctgtaa tcccagctgc tcgggaggct
     3601 gaggcaggag aatcacttga atctaggagg cagagtttgc agtgagctga gatcacgcca
     3661 ttgcactcca gcctgggcga cagagcaaga ctctgtctca agaagaaaaa aaaaatacat
     3721 atacacataa atatatatat gtgtgtgtgt atatatatat atatatatat atatgctata
     3781 taaagtttaa atgaaatgct ttgagtcacc taagacagga tatagacaaa gtcttcatcg
     3841 tcttcttgct tcttctacct ttatttattc tcagctctga atgtatgaac ctgctcaatc
     3901 acctcatctt aaaaataaaa tcactgtccc taga
//
