LOCUS       NM_001276700            2923 bp    mRNA    linear   PRI 17-JUN-2024
DEFINITION  Homo sapiens NLR family pyrin domain containing 6 (NLRP6),
            transcript variant 2, mRNA.
ACCESSION   NM_001276700
VERSION     NM_001276700.2
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 2923)
  AUTHORS   Ghimire,L., Paudel,S., Le,J., Jin,L., Cai,S., Bhattarai,D. and
            Jeyaseelan,S.
  TITLE     NLRP6 negatively regulates host defense against polymicrobial
            sepsis
  JOURNAL   Front Immunol 15, 1248907 (2024)
   PUBMED   38720893
  REMARK    GeneRIF: NLRP6 negatively regulates host defense against
            polymicrobial sepsis.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2923)
  AUTHORS   Chang,L., Xu,L., Tian,Y., Liu,Z., Song,M., Li,S., Zhang,X.,
            Chen,Y., Hao,Q., Lu,Y. and Zhen,Y.
  TITLE     NLRP6 deficiency suppresses colorectal cancer liver metastasis
            growth by modulating M-MDSC-induced immunosuppressive
            microenvironment
  JOURNAL   Biochim Biophys Acta Mol Basis Dis 1870 (3), 167035 (2024)
   PUBMED   38278335
  REMARK    GeneRIF: NLRP6 deficiency suppresses colorectal cancer liver
            metastasis growth by modulating M-MDSC-induced immunosuppressive
            microenvironment.
REFERENCE   3  (bases 1 to 2923)
  AUTHORS   Fruhbeck,G., Gomez-Ambrosi,J., Ramirez,B., Becerril,S.,
            Rodriguez,A., Mentxaka,A., Valenti,V., Moncada,R., Reina,G.,
            Baixauli,J., Casado,M., Silva,C., Escalada,J. and Catalan,V.
  TITLE     Decreased expression of the NLRP6 inflammasome is associated with
            increased intestinal permeability and inflammation in obesity with
            type 2 diabetes
  JOURNAL   Cell Mol Life Sci 81 (1), 77 (2024)
   PUBMED   38315242
  REMARK    GeneRIF: Decreased expression of the NLRP6 inflammasome is
            associated with increased intestinal permeability and inflammation
            in obesity with type 2 diabetes.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2923)
  AUTHORS   Zhi,F., Li,B., Zhang,C., Xia,F., Wang,R., Xie,W., Cai,S., Zhang,D.,
            Kong,R., Hu,Y., Yang,Y., Peng,Y. and Cui,J.
  TITLE     NLRP6 potentiates PI3K/AKT signalling by promoting autophagic
            degradation of p85alpha to drive tumorigenesis
  JOURNAL   Nat Commun 14 (1), 6069 (2023)
   PUBMED   37770465
  REMARK    GeneRIF: NLRP6 potentiates PI3K/AKT signalling by promoting
            autophagic degradation of p85alpha to drive tumorigenesis.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2923)
  AUTHORS   Gao,X., Wang,W.X. and Zhang,X.L.
  TITLE     A novel pyroptosis risk model composed of NLRP6 effectively
            predicts the prognosis of hepatocellular carcinoma patients
  JOURNAL   Cancer Med 12 (1), 808-823 (2023)
   PUBMED   35651286
  REMARK    GeneRIF: A novel pyroptosis risk model composed of NLRP6
            effectively predicts the prognosis of hepatocellular carcinoma
            patients.
REFERENCE   6  (bases 1 to 2923)
  AUTHORS   Grenier,J.M., Wang,L., Manji,G.A., Huang,W.J., Al-Garawi,A.,
            Kelly,R., Carlson,A., Merriam,S., Lora,J.M., Briskin,M.,
            DiStefano,P.S. and Bertin,J.
  TITLE     Functional screening of five PYPAF family members identifies PYPAF5
            as a novel regulator of NF-kappaB and caspase-1
  JOURNAL   FEBS Lett 530 (1-3), 73-78 (2002)
   PUBMED   12387869
  REMARK    GeneRIF: PYPAF5 functions in immune cells to coordinate the
            transduction of pro-inflammatory signals to the activation of
            NF-kappaB and pro-caspase-1
REFERENCE   7  (bases 1 to 2923)
  AUTHORS   Wang,L., Manji,G.A., Grenier,J.M., Al-Garawi,A., Merriam,S.,
            Lora,J.M., Geddes,B.J., Briskin,M., DiStefano,P.S. and Bertin,J.
  TITLE     PYPAF7, a novel PYRIN-containing Apaf1-like protein that regulates
            activation of NF-kappa B and caspase-1-dependent cytokine
            processing
  JOURNAL   J Biol Chem 277 (33), 29874-29880 (2002)
   PUBMED   12019269
REFERENCE   8  (bases 1 to 2923)
  AUTHORS   Ruiz-Opazo,N., Lopez,L.V. and Herrera,V.L.
  TITLE     The dual AngII/AVP receptor gene N119S/C163R variant exhibits
            sodium-induced dysfunction and cosegregates with salt-sensitive
            hypertension in the Dahl salt-sensitive hypertensive rat model
  JOURNAL   Mol Med 8 (1), 24-32 (2002)
   PUBMED   11984003
  REMARK    GeneRIF: The dual AngII/AVP receptor gene N119S/C163R variant
            exhibits sodium-induced dysfunction and cosegregates with
            salt-sensitive hypertension in the Dahl salt-sensitive hypertensive
            rat model.
REFERENCE   9  (bases 1 to 2923)
  AUTHORS   Gonzalez,C.B., Herrera,V.L. and Ruiz-Opazo,N.
  TITLE     Renal immunocytochemical distribution and pharmacological
            properties of the dual angiotensin II/AVP receptor
  JOURNAL   Hypertension 29 (4), 957-961 (1997)
   PUBMED   9095083
  REMARK    GeneRIF: This publication deals with the rat ortholog of the human
            NLRP6 gene.
REFERENCE   10 (bases 1 to 2923)
  AUTHORS   Ruiz-Opazo,N., Akimoto,K. and Herrera,V.L.
  TITLE     Identification of a novel dual angiotensin II/vasopressin receptor
            on the basis of molecular recognition theory
  JOURNAL   Nat Med 1 (10), 1074-1081 (1995)
   PUBMED   7489366
  REMARK    GeneRIF: This publication deals with the rat ortholog of the human
            NLRP6 gene.
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC136475.7, AF479748.1,
            AK292668.1 and CD636365.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jun 2, 2019 this sequence version replaced NM_001276700.1.
            
            Summary: The protein encoded by this gene binds
            arginine-vasopressin and may be involved in the
            arginine-vasopressin-mediated regulation of renal salt-water
            balance. The encoded protein also mediates inflammatory responses
            in the colon to allow recovery from intestinal epithelial damage
            and protects against tumorigenesis and the development of colitis.
            Finally, this protein can increase activation of NF-kappa-B,
            activation of CASP1 through interaction with ASC, and cAMP
            accumulation. Two transcript variants encoding different isoforms
            have been found for this gene. [provided by RefSeq, Feb 2013].
            
            Transcript Variant: This variant (2) uses an alternate in-frame
            exon at the 5' end of an exon compared to variant 1. The resulting
            isoform (2) lacks a single internal aa compared to isoform 1.
            
            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 :: AK292668.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2144835, SAMEA2152474
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000534750.6/ ENSP00000433617.1
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-163               AC136475.7         62951-63113
            164-649             AF479748.1         1-486
            650-650             AC136475.7         64765-64765
            651-1244            AF479748.1         488-1081
            1245-1246           AC136475.7         65360-65361
            1247-2595           AK292668.1         1289-2637
            2596-2839           AF479748.1         2436-2679
            2840-2923           CD636365.1         1-84                c
FEATURES             Location/Qualifiers
     source          1..2923
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.5"
     gene            1..2923
                     /gene="NLRP6"
                     /gene_synonym="AVR; CLR11.4; NALP6; NAVR; NAVR/AVR; PAN3;
                     PYPAF5"
                     /note="NLR family pyrin domain containing 6"
                     /db_xref="GeneID:171389"
                     /db_xref="HGNC:HGNC:22944"
                     /db_xref="MIM:609650"
     exon            1..192
                     /gene="NLRP6"
                     /gene_synonym="AVR; CLR11.4; NALP6; NAVR; NAVR/AVR; PAN3;
                     PYPAF5"
                     /inference="alignment:Splign:2.1.0"
     CDS             164..2839
                     /gene="NLRP6"
                     /gene_synonym="AVR; CLR11.4; NALP6; NAVR; NAVR/AVR; PAN3;
                     PYPAF5"
                     /note="isoform 2 is encoded by transcript variant 2;
                     NACHT, leucine rich repeat and PYD containing 6;
                     angiotensin II/vasopressin receptor; nucleotide-binding
                     oligomerization domain, leucine rich repeat and pyrin
                     domain containing 6; NACHT, LRR and PYD domains-containing
                     protein 6; PYRIN-containing APAF1-like protein 5"
                     /codon_start=1
                     /product="NACHT, LRR and PYD domains-containing protein 6
                     isoform 2"
                     /protein_id="NP_001263629.1"
                     /db_xref="CCDS:CCDS60680.1"
                     /db_xref="GeneID:171389"
                     /db_xref="HGNC:HGNC:22944"
                     /db_xref="MIM:609650"
                     /translation="MDQPEAPCSSTGPRLAVARELLLAALEELSQEQLKRFRHKLRDV
                     GPDGRSIPWGRLERADAVDLAEQLAQFYGPEPALEVARKTLKRADARDVAAQLQERRL
                     QRLGLGSGTLLSVSEYKKKYREHVLQLHARVKERNARSVKITKRFTKLLIAPESAAPE
                     EAMGPAEEPEPGRARRSDTHTFNRLFRRDEEGRRPLTVVLQGPAGIGKTMAAKKILYD
                     WAAGKLYQGQVDFAFFMPCGELLERPGTRSLADLILDQCPDRGAPVPQMLAQPQRLLF
                     ILDGADELPALGGPEAAPCTDPFEAASGARVLGGLLSKALLPTALLLVTTRAAAPGRL
                     QGRLCSPQCAEVRGFSDKDKKKYFYKYFRDERRAERAYRFVKENETLFALCFVPFVCW
                     IVCTVLRQQLELGRDLSRTSKTTTSVYLLFITSVLSSAPVADGPRLQGDLRNLCRLAR
                     EGVLGRRAQFAEKELEQLELRGSKVQTLFLSKKELPGVLETEVTYQFIDQSFQEFLAA
                     LSYLLEDGGVPRTAAGGVGTLLRGDAQPHSHLVLTTRFLFGLLSAERMRDIERHFGCM
                     VSERVKQEALRWVQGQGQGCPGVAPEVTEGAKGLEDTEEPEEEEEGEEPNYPLELLYC
                     LYETQEDAFVRQALCRFPELALQRVRFCRMDVAVLSYCVRCCPAGQALRLISCRLVAA
                     QEKKKKSLGKRLQASLGGGSSQGTTKQLPASLLHPLFQAMTDPLCHLSSLTLSHCKLP
                     DAVCRDLSEALRAAPALTELGLLHNRLSEAGLRMLSEGLAWPQCRVQTVRVQLPDPQR
                     GLQYLVGMLRQSPALTTLDLSGCQLPAPMVTYLCAVLQHQGCGLQTLSLASVELSEQS
                     LQELQAVKRAKPDLVITHPALDGHPQPPKELISTF"
     exon            193..473
                     /gene="NLRP6"
                     /gene_synonym="AVR; CLR11.4; NALP6; NAVR; NAVR/AVR; PAN3;
                     PYPAF5"
                     /inference="alignment:Splign:2.1.0"
     exon            474..512
                     /gene="NLRP6"
                     /gene_synonym="AVR; CLR11.4; NALP6; NAVR; NAVR/AVR; PAN3;
                     PYPAF5"
                     /inference="alignment:Splign:2.1.0"
     exon            513..2268
                     /gene="NLRP6"
                     /gene_synonym="AVR; CLR11.4; NALP6; NAVR; NAVR/AVR; PAN3;
                     PYPAF5"
                     /inference="alignment:Splign:2.1.0"
     exon            2269..2361
                     /gene="NLRP6"
                     /gene_synonym="AVR; CLR11.4; NALP6; NAVR; NAVR/AVR; PAN3;
                     PYPAF5"
                     /inference="alignment:Splign:2.1.0"
     exon            2362..2532
                     /gene="NLRP6"
                     /gene_synonym="AVR; CLR11.4; NALP6; NAVR; NAVR/AVR; PAN3;
                     PYPAF5"
                     /inference="alignment:Splign:2.1.0"
     exon            2533..2700
                     /gene="NLRP6"
                     /gene_synonym="AVR; CLR11.4; NALP6; NAVR; NAVR/AVR; PAN3;
                     PYPAF5"
                     /inference="alignment:Splign:2.1.0"
     exon            2701..2923
                     /gene="NLRP6"
                     /gene_synonym="AVR; CLR11.4; NALP6; NAVR; NAVR/AVR; PAN3;
                     PYPAF5"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 gcccaacagc atctcgtgcc agctgagctg cggtgtgtgg acccggggaa tggaccgggc
       61 tggacaacct ctaagacttg gctccagctc agcctgtgaa ggaatcacct ctctgatccc
      121 cacctctgcc ccggagtgct agacccaggg aggaagagac cccatggacc agccagaggc
      181 cccctgctcc agcacggggc cgcgcctcgc ggtggcccgc gagctgctcc tggctgcgct
      241 ggaggaactg agccaagagc agctgaagcg cttccgccac aagctgcgcg acgtgggccc
      301 ggacggacgc agcatcccgt gggggcggct ggagcgcgcg gacgccgtgg acctcgcgga
      361 gcagctggcc cagttctacg gcccggagcc tgccctggag gtggcccgca agaccctcaa
      421 gagggcggac gcgcgcgacg tggcggcgca gctccaggag cggcggctgc agcggctcgg
      481 gctcggctcc gggacgctgc tctccgtgtc cgagtacaag aagaagtacc gggagcacgt
      541 gctgcagctg cacgctcggg tgaaggagag gaacgcccgc tccgtgaaga tcaccaagcg
      601 cttcaccaag ctgctcatcg cgcccgagag cgccgccccg gaggaggcga tggggcccgc
      661 ggaagagcct gagccggggc gcgcgcggcg ctcggacacg cacactttca accgcctctt
      721 ccgccgcgac gaggagggcc ggcggccgct gaccgtggtg ctgcagggcc cggcgggcat
      781 cggcaagacc atggcggcca aaaagatcct gtacgactgg gcggcgggca agctgtacca
      841 gggccaggtg gacttcgcct tcttcatgcc ctgcggcgag ctgctggaga ggccgggcac
      901 gcgcagcctg gctgacctga tcctggacca gtgccccgac cgcggcgcgc cggtgccgca
      961 gatgctggcc cagccgcagc ggctgctctt catcctggac ggcgcggacg agctgccggc
     1021 gctggggggc cccgaggccg cgccctgcac agaccccttc gaggcggcga gcggcgcgcg
     1081 ggtgctaggc gggctgctga gcaaggcgct gctgcccacg gccctcctgc tggtgaccac
     1141 gcgcgccgcc gcccccggga ggctgcaggg ccgcctgtgt tccccgcagt gcgccgaggt
     1201 gcgcggcttc tccgacaagg acaagaagaa gtatttctac aagtatttcc gggatgagag
     1261 gagggccgag cgcgcctacc gcttcgtgaa ggagaacgag acgctgttcg cgctgtgctt
     1321 cgtgcccttc gtgtgctgga tcgtgtgcac cgtgctgcgc cagcagctgg agctcggtcg
     1381 ggacctgtcg cgcacgtcca agaccaccac gtcagtgtac ctgcttttca tcaccagcgt
     1441 tctgagctcg gctccggtag ccgacgggcc ccggttgcag ggcgacctgc gcaatctgtg
     1501 ccgcctggcc cgcgagggcg tcctcggacg cagggcgcag tttgccgaga aggaactgga
     1561 gcaactggag cttcgtggct ccaaagtgca gacgctgttt ctcagcaaaa aggagctgcc
     1621 gggcgtgctg gagacagagg tcacctacca gttcatcgac cagagcttcc aggagttcct
     1681 cgcggcactg tcctacctgc tggaggacgg cggggtgccc aggaccgcgg ctggcggcgt
     1741 tgggacactc ctgcgtgggg acgcccagcc gcacagccac ttggtgctca ccacgcgctt
     1801 cctcttcgga ctgctgagcg cggagcggat gcgcgacatc gagcgccact tcggctgcat
     1861 ggtttcagag cgtgtgaagc aggaggccct gcggtgggtg cagggacagg gacagggctg
     1921 ccccggagtg gcaccagagg tgaccgaggg ggccaaaggg ctcgaggaca ccgaagagcc
     1981 agaggaggag gaggagggag aggagcccaa ctacccactg gagttgctgt actgcctgta
     2041 cgagacgcag gaggacgcgt ttgtgcgcca agccctgtgc cggttcccgg agctggcgct
     2101 gcagcgagtg cgcttctgcc gcatggacgt ggctgttctg agctactgcg tgaggtgctg
     2161 ccctgctgga caggcactgc ggctgatcag ctgcagattg gttgctgcgc aggagaagaa
     2221 gaagaagagc ctggggaagc ggctccaggc cagcctgggt ggcggcagtt ctcaaggcac
     2281 cacaaaacaa ctgccagcct cccttcttca tccactcttt caggcaatga ctgacccact
     2341 gtgccatctg agcagcctca cgctgtccca ctgcaaactc cctgacgcgg tctgccgaga
     2401 cctttctgag gccctgaggg cagcccccgc actgacggag ctgggcctcc tccacaacag
     2461 gctcagtgag gcgggactgc gtatgctgag tgagggccta gcctggccgc agtgcagggt
     2521 gcagacggtc agggtacagc tgcctgaccc ccagcgaggg ctccagtacc tggtgggtat
     2581 gcttcggcag agccctgccc tgaccaccct ggatctcagc ggctgccaac tgcccgcccc
     2641 catggtgacc tacctgtgtg cagtcctgca gcaccaggga tgcggcctgc agaccctcag
     2701 tctggcctct gtggagctga gcgagcagtc actacaggag cttcaggctg tgaagagagc
     2761 aaagccggat ctggtcatca cacacccagc gctggacggc cacccacaac ctcccaagga
     2821 actcatctcg accttctgag gctctggtgg ccagagcagg gtggaagacc ctagtcaaag
     2881 tccctgtgga gagaacggcc cattccaagg gcaggaggat att
//
