LOCUS       NM_001127255            3440 bp    mRNA    linear   PRI 13-FEB-2025
DEFINITION  Homo sapiens NLR family pyrin domain containing 7 (NLRP7),
            transcript variant 3, mRNA.
ACCESSION   NM_001127255
VERSION     NM_001127255.2
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 3440)
  AUTHORS   Gu,B., Le,G.H., Herrera,S., Blair,S.J., Meissner,T.B. and
            Strominger,J.L.
  TITLE     HLA-C expression in extravillous trophoblasts is determined by an
            ELF3-NLRP2/NLRP7 regulatory axis
  JOURNAL   Proc Natl Acad Sci U S A 121 (31), e2404229121 (2024)
   PUBMED   39052836
  REMARK    GeneRIF: HLA-C expression in extravillous trophoblasts is
            determined by an ELF3-NLRP2/NLRP7 regulatory axis.
REFERENCE   2  (bases 1 to 3440)
  AUTHORS   Zhang,H., Dong,P., Fan,H., Liang,H., Zhang,K., Zhao,Y., Guo,S.,
            Schrodi,S.J., Fan,Y. and Zhang,D.
  TITLE     Gene body hypomethylation of pyroptosis-related genes NLRP7, NLRP2,
            and NLRP3 facilitate non-invasive surveillance of hepatocellular
            carcinoma
  JOURNAL   Funct Integr Genomics 23 (2), 198 (2023)
   PUBMED   37273114
  REMARK    GeneRIF: Gene body hypomethylation of pyroptosis-related genes
            NLRP7, NLRP2, and NLRP3 facilitate non-invasive surveillance of
            hepatocellular carcinoma.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3440)
  AUTHORS   Han,J., Zhang,N., Cao,Q., Shi,X., Wang,C., Rui,X., Ding,J.,
            Zhao,C., Zhang,J., Ling,X., Li,H., Guan,Y., Meng,Q. and Huo,R.
  TITLE     NLRP7 participates in the human subcortical maternal complex and
            its variants cause female infertility characterized by early embryo
            arrest
  JOURNAL   J Mol Med (Berl) 101 (6), 717-729 (2023)
   PUBMED   37148315
  REMARK    GeneRIF: NLRP7 participates in the human subcortical maternal
            complex and its variants cause female infertility characterized by
            early embryo arrest.
REFERENCE   4  (bases 1 to 3440)
  AUTHORS   Tao,C., Zhu,T., Tang,S., Lu,J., Lin,X., Li,X., Liu,X., Pang,Y.,
            Zhao,H., Liang,J., Zhang,F., Lu,X. and Zhang,L.
  TITLE     Novo pathogenic variations of NLRP7 increasing the risk of
            gestational trophoblastic neoplasia
  JOURNAL   Clin Genet 103 (4), 498-500 (2023)
   PUBMED   36544392
  REMARK    GeneRIF: Novo pathogenic variations of NLRP7 increasing the risk of
            gestational trophoblastic neoplasia.
REFERENCE   5  (bases 1 to 3440)
  AUTHORS   Reynaud,D., Alfaidy,N., Collet,C., Lemaitre,N., Sergent,F.,
            Miege,C., Soleilhac,E., Assi,A.A., Murthi,P., Courtois,G.,
            Fauvarque,M.O., Slim,R., Benharouga,M. and Abi Nahed,R.
  TITLE     NLRP7 Enhances Choriocarcinoma Cell Survival and Camouflage in an
            Inflammasome Independent Pathway
  JOURNAL   Cells 12 (6), 857 (2023)
   PUBMED   36980199
  REMARK    GeneRIF: NLRP7 Enhances Choriocarcinoma Cell Survival and
            Camouflage in an Inflammasome Independent Pathway.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 3440)
  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 3440)
  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
REFERENCE   8  (bases 1 to 3440)
  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
REFERENCE   9  (bases 1 to 3440)
  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   10 (bases 1 to 3440)
  AUTHORS   Moglabey,Y.B., Kircheisen,R., Seoud,M., El Mogharbel,N., Van den
            Veyver,I. and Slim,R.
  TITLE     Genetic mapping of a maternal locus responsible for familial
            hydatidiform moles
  JOURNAL   Hum Mol Genet 8 (4), 667-671 (1999)
   PUBMED   10072436
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC011476.8.
            
            On Apr 27, 2022 this sequence version replaced NM_001127255.1.
            
            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. This gene may act as a feedback regulator of
            caspase-1-dependent interleukin 1-beta secretion. Alternative
            splicing results in multiple transcript variants encoding different
            isoforms. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (3) represents the longest
            transcript and encodes the longest isoform (3).
            
            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 :: BC109125.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2142363
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000592784.6/ ENSP00000468706.1
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-62                AC011476.8         50215-50276         c
            63-378              AC011476.8         44181-44496         c
            379-453             AC011476.8         43677-43751         c
            454-2032            AC011476.8         41634-43212         c
            2033-2230           AC011476.8         40790-40987         c
            2231-2401           AC011476.8         39007-39177         c
            2402-2572           AC011476.8         37235-37405         c
            2573-2743           AC011476.8         36315-36485         c
            2744-2911           AC011476.8         33245-33412         c
            2912-3082           AC011476.8         30351-30521         c
            3083-3440           AC011476.8         26261-26618         c
FEATURES             Location/Qualifiers
     source          1..3440
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.42"
     gene            1..3440
                     /gene="NLRP7"
                     /gene_synonym="CLR19.4; HYDM; NALP7; NOD12; PAN7; PYPAF3"
                     /note="NLR family pyrin domain containing 7"
                     /db_xref="GeneID:199713"
                     /db_xref="HGNC:HGNC:22947"
                     /db_xref="MIM:609661"
     exon            1..62
                     /gene="NLRP7"
                     /gene_synonym="CLR19.4; HYDM; NALP7; NOD12; PAN7; PYPAF3"
                     /inference="alignment:Splign:2.1.0"
     exon            63..378
                     /gene="NLRP7"
                     /gene_synonym="CLR19.4; HYDM; NALP7; NOD12; PAN7; PYPAF3"
                     /inference="alignment:Splign:2.1.0"
     CDS             102..3215
                     /gene="NLRP7"
                     /gene_synonym="CLR19.4; HYDM; NALP7; NOD12; PAN7; PYPAF3"
                     /note="isoform 3 is encoded by transcript variant 3;
                     NACHT, leucine rich repeat and PYD containing 7;
                     nucleotide-binding oligomerization domain, leucine rich
                     repeat and pyrin domain containing 7; NACHT, LRR and PYD
                     containing protein 7; NACHT, LRR and PYD
                     domains-containing protein 7; PYRIN-containing Apaf1-like
                     protein 3; nucleotide-binding oligomerization domain
                     protein 12"
                     /codon_start=1
                     /product="NACHT, LRR and PYD domains-containing protein 7
                     isoform 3"
                     /protein_id="NP_001120727.1"
                     /db_xref="CCDS:CCDS46183.1"
                     /db_xref="GeneID:199713"
                     /db_xref="HGNC:HGNC:22947"
                     /db_xref="MIM:609661"
                     /translation="MTSPQLEWTLQTLLEQLNEDELKSFKSLLWAFPLEDVLQKTPWS
                     EVEEADGKKLAEILVNTSSENWIRNATVNILEEMNLTELCKMAKAEMMEDGQVQEIDN
                     PELGDAEEDSELAKPGEKEGWRNSMEKQSLVWKNTFWQGDIDNFHDDVTLRNQRFIPF
                     LNPRTPRKLTPYTVVLHGPAGVGKTTLAKKCMLDWTDCNLSPTLRYAFYLSCKELSRM
                     GPCSFAELISKDWPELQDDIPSILAQAQRILFVVDGLDELKVPPGALIQDICGDWEKK
                     KPVPVLLGSLLKRKMLPRAALLVTTRPRALRDLQLLAQQPIYVRVEGFLEEDRRAYFL
                     RHFGDEDQAMRAFELMRSNAALFQLGSAPAVCWIVCTTLKLQMEKGEDPVPTCLTRTG
                     LFLRFLCSRFPQGAQLRGALRTLSLLAAQGLWAQMSVFHREDLERLGVQESDLRLFLD
                     GDILRQDRVSKGCYSFIHLSFQQFLTALFYALEKEEGEDRDGHAWDIGDVQKLLSGEE
                     RLKNPDLIQVGHFLFGLANEKRAKELEATFGCRMSPDIKQELLQCKAHLHANKPLSVT
                     DLKEVLGCLYESQEEELAKVVVAPFKEISIHLTNTSEVMHCSFSLKHCQDLQKLSLQV
                     AKGVFLENYMDFELDIEFERCTYLTIPNWARQDLRSLRLWTDFCSLFSSNSNLKFLEV
                     KQSFLSDSSVRILCDHVTRSTCHLQKVEIKNVTPDTAYRDFCLAFIGKKTLTHLTLAG
                     HIEWERTMMLMLCDLLRNHKCNLQYLRLGGHCATPEQWAEFFYVLKANQSLKHLRLSA
                     NVLLDEGAMLLYKTMTRPKHFLQMLSLENCRLTEASCKDLAAVLVVSKKLTHLCLAKN
                     PIGDTGVKFLCEGLSYPDCKLQTLVLQQCSITKLGCRYLSEALQEACSLTNLDLSINQ
                     IARGLWILCQALENPNCNLKHLRLWSCSLMPFYCQHLGSALLSNQKLETLDLGQNHLW
                     KSGIIKLFGVLRQRTGSLKILRLKTYETNLEIKKLLEEVKEKNPKLTIDCNASGATAP
                     PCCDFFC"
     exon            379..453
                     /gene="NLRP7"
                     /gene_synonym="CLR19.4; HYDM; NALP7; NOD12; PAN7; PYPAF3"
                     /inference="alignment:Splign:2.1.0"
     exon            454..2032
                     /gene="NLRP7"
                     /gene_synonym="CLR19.4; HYDM; NALP7; NOD12; PAN7; PYPAF3"
                     /inference="alignment:Splign:2.1.0"
     exon            2033..2230
                     /gene="NLRP7"
                     /gene_synonym="CLR19.4; HYDM; NALP7; NOD12; PAN7; PYPAF3"
                     /inference="alignment:Splign:2.1.0"
     exon            2231..2401
                     /gene="NLRP7"
                     /gene_synonym="CLR19.4; HYDM; NALP7; NOD12; PAN7; PYPAF3"
                     /inference="alignment:Splign:2.1.0"
     exon            2402..2572
                     /gene="NLRP7"
                     /gene_synonym="CLR19.4; HYDM; NALP7; NOD12; PAN7; PYPAF3"
                     /inference="alignment:Splign:2.1.0"
     exon            2573..2743
                     /gene="NLRP7"
                     /gene_synonym="CLR19.4; HYDM; NALP7; NOD12; PAN7; PYPAF3"
                     /inference="alignment:Splign:2.1.0"
     exon            2744..2911
                     /gene="NLRP7"
                     /gene_synonym="CLR19.4; HYDM; NALP7; NOD12; PAN7; PYPAF3"
                     /inference="alignment:Splign:2.1.0"
     exon            2912..3082
                     /gene="NLRP7"
                     /gene_synonym="CLR19.4; HYDM; NALP7; NOD12; PAN7; PYPAF3"
                     /inference="alignment:Splign:2.1.0"
     exon            3083..3440
                     /gene="NLRP7"
                     /gene_synonym="CLR19.4; HYDM; NALP7; NOD12; PAN7; PYPAF3"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3421..3426
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NLRP7"
                     /gene_synonym="CLR19.4; HYDM; NALP7; NOD12; PAN7; PYPAF3"
                     /note="hexamer: AATAAA"
     polyA_site      3440
                     /gene="NLRP7"
                     /gene_synonym="CLR19.4; HYDM; NALP7; NOD12; PAN7; PYPAF3"
                     /note="major polyA site"
ORIGIN      
        1 ccctttttat ccgtttcctt tgcaggaaac acaggctgga agcaagacct gacctgaggg
       61 agttcttcag ccttaaccta aggtctcata ctcggagcac tatgacatcg ccccagctag
      121 agtggactct gcagaccctt ctggagcagc tgaacgagga tgaattaaag agtttcaaat
      181 cccttttatg ggcttttccc ctcgaagacg tgctacagaa gaccccatgg tctgaggtgg
      241 aagaggctga tggcaagaaa ctggcagaaa ttctggtcaa cacctcctca gaaaattgga
      301 taaggaatgc gactgtgaac atcttggaag agatgaatct cacggaattg tgtaagatgg
      361 caaaggctga gatgatggag gacggacagg tgcaagaaat agataatcct gagctgggag
      421 atgcagaaga agactcggag ttagcaaagc caggtgaaaa ggaaggatgg agaaattcaa
      481 tggagaaaca gtctttggtc tggaagaaca ccttttggca aggagacatt gacaatttcc
      541 atgacgacgt cactctgaga aaccaacggt tcattccatt cttgaatccc agaacaccca
      601 ggaagctaac accttacacg gtggtgctgc acggccccgc aggcgtgggg aaaaccacgc
      661 tggccaaaaa gtgtatgctg gactggacag actgcaacct cagcccgacg ctcagatacg
      721 cgttctacct cagctgcaag gagctcagcc gcatgggccc ctgcagtttt gcagagctga
      781 tctccaaaga ctggcctgaa ttgcaggatg acattccaag catcctagcc caagcacaga
      841 gaatcctgtt cgtggtcgat ggccttgatg agctgaaagt cccacctggg gcgctgatcc
      901 aggacatctg cggggactgg gagaagaaga agccggtgcc cgtcctcctg gggagtttgc
      961 tgaagaggaa gatgttaccc agggcagcct tgctggtcac cacgcggccc agggcactga
     1021 gggacctcca gctcctggcg cagcagccga tctacgtaag ggtggagggc ttcctggagg
     1081 aggacaggag ggcctatttc ctgagacact ttggagacga ggaccaagcc atgcgtgcct
     1141 ttgagctaat gaggagcaac gcggccctgt tccagctggg ctcggccccc gcggtgtgct
     1201 ggattgtgtg cacgactctg aagctgcaga tggagaaggg ggaggacccg gtccccacct
     1261 gcctcacccg cacggggctg ttcctgcgtt tcctctgcag ccggttcccg cagggcgcac
     1321 agctgcgggg cgcgctgcgg acgctgagcc tcctggccgc gcagggcctg tgggcgcaga
     1381 tgtccgtgtt ccaccgagag gacctggaaa ggctcggggt gcaggagtcc gacctccgtc
     1441 tgttcctgga cggagacatc ctccgccagg acagagtctc caaaggctgc tactccttca
     1501 tccacctcag cttccagcag tttctcactg ccctgttcta cgccctggag aaggaggagg
     1561 gggaggacag ggacggccac gcctgggaca tcggggacgt acagaagctg ctttccggag
     1621 aagaaagact caagaacccc gacctgattc aagtaggaca cttcttattc ggcctcgcta
     1681 acgagaagag agccaaggag ttggaggcca cttttggctg ccggatgtca ccggacatca
     1741 aacaggaatt gctgcaatgc aaagcacatc ttcatgcaaa taagccctta tccgtgaccg
     1801 acctgaagga ggtcttgggc tgcctgtatg agtctcagga ggaggagctg gcgaaggtgg
     1861 tggtggcccc gttcaaggaa atttctattc acctgacaaa tacttctgaa gtgatgcatt
     1921 gttccttcag cctgaagcat tgtcaagact tgcagaaact ctcactgcag gtagcaaagg
     1981 gggtgttcct ggagaattac atggattttg aactggacat tgaatttgaa aggtgcactt
     2041 acctaaccat tccgaactgg gctcggcagg atcttcgctc tcttcgcctc tggacagatt
     2101 tctgctctct cttcagctca aacagcaacc tcaagtttct ggaagtgaaa caaagcttcc
     2161 tgagtgactc ttctgtgcgg attctttgtg accacgtaac ccgtagcacc tgtcatctgc
     2221 agaaagtgga gattaaaaac gtcacccctg acaccgcgta ccgggacttc tgtcttgctt
     2281 tcattgggaa gaagaccctc acgcacctga ccctggcagg gcacatcgag tgggaacgca
     2341 cgatgatgct gatgctgtgt gacctgctca gaaatcataa atgcaacctg cagtacctga
     2401 ggttgggagg tcactgtgcc accccggagc agtgggctga attcttctat gtcctcaaag
     2461 ccaaccagtc cctgaagcac ctgcgtctct cagccaatgt gctcctggat gagggtgcca
     2521 tgttgctgta caagaccatg acacgcccaa aacacttcct gcagatgttg tcgttggaaa
     2581 actgtcgtct tacagaagcc agttgcaagg accttgctgc tgtcttggtt gtcagcaaga
     2641 agctgacaca cctgtgcttg gccaagaacc ccattgggga tacaggggtg aagtttctgt
     2701 gtgagggctt gagttaccct gattgtaaac tgcagacctt ggtgttacag caatgcagca
     2761 taaccaagct tggctgtaga tatctctcag aggcgctcca agaagcctgc agcctcacaa
     2821 acctggactt gagtatcaac cagatagctc gtggattgtg gattctctgt caggcattag
     2881 agaatccaaa ctgtaaccta aaacacctac gcctctggag ctgctccctc atgcctttct
     2941 attgtcagca tcttggatct gctctcctca gcaatcagaa gcttgaaact ctggacctgg
     3001 gccagaatca tttgtggaag agtggcataa ttaagctctt tggggttcta agacaaagaa
     3061 ctggatcctt gaagatactc aggttgaaga cctatgaaac taatttggaa atcaagaagc
     3121 tgttggagga agtgaaagaa aagaatccca agctgactat tgattgcaat gcttccgggg
     3181 caacggcacc tccgtgctgt gacttttttt gctgagcagc ctgggatcgc tctacgaatt
     3241 acacaggaag cgggattcgg gtctctaaga tgtcttatga atgcaggtca gagggtcaca
     3301 tgttaacact agagtctgtc gagaggtagg atttgacact ggttttctca ctatttttgg
     3361 gagattctgc acgagtcacg cacccccttc acatgacgct atgtactttc tcacagggat
     3421 aataaagtta gagcactctc
//
