LOCUS       NM_153447               3885 bp    mRNA    linear   PRI 29-OCT-2024
DEFINITION  Homo sapiens NLR family pyrin domain containing 5 (NLRP5),
            transcript variant 2, mRNA.
ACCESSION   NM_153447
VERSION     NM_153447.4
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 3885)
  AUTHORS   Unoki,M., Uemura,S., Fujimoto,A. and Sasaki,H.
  TITLE     The maternal protein NLRP5 stabilizes UHRF1 in the cytoplasm:
            implication for the pathogenesis of multilocus imprinting
            disturbance
  JOURNAL   Hum Mol Genet 33 (18), 1575-1583 (2024)
   PUBMED   38868925
  REMARK    GeneRIF: The maternal protein NLRP5 stabilizes UHRF1 in the
            cytoplasm: implication for the pathogenesis of multilocus
            imprinting disturbance.
REFERENCE   2  (bases 1 to 3885)
  AUTHORS   Tong,X., Jin,J., Hu,Z., Zhang,Y., Fan,H.Y., Zhang,Y.L. and Zhang,S.
  TITLE     Mutations in OOEP and NLRP5 identified in infertile patients with
            early embryonic arrest
  JOURNAL   Hum Mutat 43 (12), 1909-1920 (2022)
   PUBMED   35946397
  REMARK    GeneRIF: Mutations in OOEP and NLRP5 identified in infertile
            patients with early embryonic arrest.
REFERENCE   3  (bases 1 to 3885)
  AUTHORS   Huang,L., Wang,Y., Lu,F., Jin,Q., Song,G., Ji,J., Luo,L., Jin,R.
            and Tong,X.
  TITLE     Novel mutations in NLRP5 and PATL2 cause female infertility
            characterized by primarily oocyte maturation abnormality and
            consequent early embryonic arrest
  JOURNAL   J Assist Reprod Genet 39 (3), 711-718 (2022)
   PUBMED   35091966
  REMARK    GeneRIF: Novel mutations in NLRP5 and PATL2 cause female
            infertility characterized by primarily oocyte maturation
            abnormality and consequent early embryonic arrest.
REFERENCE   4  (bases 1 to 3885)
  AUTHORS   Ramachandran,A., Kumar,B., Waris,G. and Everly,D.
  TITLE     Deubiquitination and Activation of the NLRP3 Inflammasome by UCHL5
            in HCV-Infected Cells
  JOURNAL   Microbiol Spectr 9 (1), e0075521 (2021)
   PUBMED   34431717
  REMARK    GeneRIF: Deubiquitination and Activation of the NLRP3 Inflammasome
            by UCHL5 in HCV-Infected Cells.
REFERENCE   5  (bases 1 to 3885)
  AUTHORS   Rezaei,M., Suresh,B., Bereke,E., Hadipour,Z., Aguinaga,M., Qian,J.,
            Bagga,R., Fardaei,M., Hemida,R., Jagadeesh,S., Majewski,J. and
            Slim,R.
  TITLE     Novel pathogenic variants in NLRP7, NLRP5, and PADI6 in patients
            with recurrent hydatidiform moles and reproductive failure
  JOURNAL   Clin Genet 99 (6), 823-828 (2021)
   PUBMED   33583041
  REMARK    GeneRIF: Novel pathogenic variants in NLRP7, NLRP5, and PADI6 in
            patients with recurrent hydatidiform moles and reproductive
            failure.
REFERENCE   6  (bases 1 to 3885)
  AUTHORS   Sena,P., Riccio,M., Marzona,L., Nicoli,A., Marsella,T.,
            Marmiroli,S., Bertacchini,J., Fano,R.A., La Sala,G.B. and De Pol,A.
  TITLE     Human MATER localization in specific cell domains of oocytes and
            follicular cells
  JOURNAL   Reprod Biomed Online 18 (2), 226-234 (2009)
   PUBMED   19192343
  REMARK    GeneRIF: The nuclear, nucleolar and mitochondrial localization
            hints at a possible role in RNA processing and the metabolic
            activity of the cell.
REFERENCE   7  (bases 1 to 3885)
  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   8  (bases 1 to 3885)
  AUTHORS   Alimohammadi,M., Bjorklund,P., Hallgren,A., Pontynen,N.,
            Szinnai,G., Shikama,N., Keller,M.P., Ekwall,O., Kinkel,S.A.,
            Husebye,E.S., Gustafsson,J., Rorsman,F., Peltonen,L., Betterle,C.,
            Perheentupa,J., Akerstrom,G., Westin,G., Scott,H.S., Hollander,G.A.
            and Kampe,O.
  TITLE     Autoimmune polyendocrine syndrome type 1 and NALP5, a parathyroid
            autoantigen
  JOURNAL   N Engl J Med 358 (10), 1018-1028 (2008)
   PUBMED   18322283
  REMARK    GeneRIF: NALP5 appears to be a tissue-specific autoantigen involved
            in hypoparathyroidism in patients with APS-1. Autoantibodies
            against NALP5 appear to be highly specific and may be diagnostic
            for this prominent component of APS-1
REFERENCE   9  (bases 1 to 3885)
  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   10 (bases 1 to 3885)
  AUTHORS   Tong,Z.B., Bondy,C.A., Zhou,J. and Nelson,L.M.
  TITLE     A human homologue of mouse Mater, a maternal effect gene essential
            for early embryonic development
  JOURNAL   Hum Reprod 17 (4), 903-911 (2002)
   PUBMED   11925379
  REMARK    GeneRIF: characterization of the MATER gene and its protein; this
            provides a basis for investigating their clinical implications in
            autoimmune premature ovarian failure and infertility in women
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AY154460.1 and AC024580.6.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Oct 16, 2007 this sequence version replaced NM_153447.3.
            
            Summary: The protein encoded by this gene belongs to the NALP
            protein family. Members of the NALP protein family typically
            contain a NACHT domain, a NACHT-associated domain (NAD), a
            C-terminal leucine-rich repeat (LRR) region, and an N-terminal
            pyrin domain (PYD). Expression of this gene is restricted to the
            oocyte. A mouse gene that encodes a maternal oocyte protein,
            similar to this encoded protein, is required for normal early
            embryogenesis. [provided by RefSeq, Jul 2008].
            
            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 :: AY054986.1, AY154460.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000390649.8/ ENSP00000375063.3
            RefSeq Select criteria :: based on conservation, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-3251              AY154460.1         1-3251
            3252-3289           AC024580.6         49107-49144
            3290-3885           AY154460.1         3290-3885
FEATURES             Location/Qualifiers
     source          1..3885
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.43"
     gene            1..3885
                     /gene="NLRP5"
                     /gene_synonym="CLR19.8; MATER; NALP5; OZEMA19; PAN11;
                     PYPAF8"
                     /note="NLR family pyrin domain containing 5"
                     /db_xref="GeneID:126206"
                     /db_xref="HGNC:HGNC:21269"
                     /db_xref="MIM:609658"
     CDS             1..3603
                     /gene="NLRP5"
                     /gene_synonym="CLR19.8; MATER; NALP5; OZEMA19; PAN11;
                     PYPAF8"
                     /note="isoform 2 is encoded by transcript variant 2;
                     NACHT, leucine rich repeat and PYD containing 5;
                     nucleotide-binding oligomerization domain, leucine rich
                     repeat and pyrin domain containing 5; maternal antigen
                     that embryos require; NACHT, LRR and PYD
                     domains-containing protein 5; mater protein homolog"
                     /codon_start=1
                     /product="NACHT, LRR and PYD domains-containing protein 5
                     isoform 2"
                     /protein_id="NP_703148.4"
                     /db_xref="CCDS:CCDS12938.1"
                     /db_xref="GeneID:126206"
                     /db_xref="HGNC:HGNC:21269"
                     /db_xref="MIM:609658"
                     /translation="MKVAGGLELGAAALLSASPRALVTLSTGPTCSILPKNPLFPQNL
                     SSQPCIKMEGDKSLTFSSYGLQWCLYELDKEEFQTFKELLKKKSSESTTCSIPQFEIE
                     NANVECLALLLHEYYGASLAWATSISIFENMNLRTLSEKARDDMKRHSPEDPEATMTD
                     QGPSKEKVPGISQAVQQDSATAAETKEQEISQAMEQEGATAAETEEQEISQAMEQEGA
                     TAAETEEQGHGGDTWDYKSHVMTKFAEEEDVRRSFENTAADWPEMQTLAGAFDSDRWG
                     FRPRTVVLHGKSGIGKSALARRIVLCWAQGGLYQGMFSYVFFLPVREMQRKKESSVTE
                     FISREWPDSQAPVTEIMSRPERLLFIIDGFDDLGSVLNNDTKLCKDWAEKQPPFTLIR
                     SLLRKVLLPESFLIVTVRDVGTEKLKSEVVSPRYLLVRGISGEQRIHLLLERGIGEHQ
                     KTQGLRAIMNNRELLDQCQVPAVGSLICVALQLQDVVGESVAPFNQTLTGLHAAFVFH
                     QLTPRGVVRRCLNLEERVVLKRFCRMAVEGVWNRKSVFDGDDLMVQGLGESELRALFH
                     MNILLPDSHCEEYYTFFHLSLQDFCAALYYVLEGLEIEPALCPLYVEKTKRSMELKQA
                     GFHIHSLWMKRFLFGLVSEDVRRPLEVLLGCPVPLGVKQKLLHWVSLLGQQPNATTPG
                     DTLDAFHCLFETQDKEFVRLALNSFQEVWLPINQNLDLIASSFCLQHCPYLRKIRVDV
                     KGIFPRDESAEACPVVPLWMRDKTLIEEQWEDFCSMLGTHPHLRQLDLGSSILTERAM
                     KTLCAKLRHPTCKIQTLMFRNAQITPGVQHLWRIVMANRNLRSLNLGGTHLKEEDVRM
                     ACEALKHPKCLLESLRLDCCGLTHACYLKISQILTTSPSLKSLSLAGNKVTDQGVMPL
                     SDALRVSQCALQKLILEDCGITATGCQSLASALVSNRSLTHLCLSNNSLGNEGVNLLC
                     RSMRLPHCSLQRLMLNQCHLDTAGCGFLALALMGNSWLTHLSLSMNPVEDNGVKLLCE
                     VMREPSCHLQDLELVKCHLTAACCESLSCVISRSRHLKSLDLTDNALGDGGVAALCEG
                     LKQKNSVLARLGLKACGLTSDCCEALSLALSCNRHLTSLNLVQNNFSPKGMMKLCSAF
                     ACPTSNLQIIGLWKWQYPVQIRKLLEEVQLLKPRVVIDGSWHSFDEDDRYWWKN"
     exon            1..62
                     /gene="NLRP5"
                     /gene_synonym="CLR19.8; MATER; NALP5; OZEMA19; PAN11;
                     PYPAF8"
                     /inference="alignment:Splign:2.1.0"
     exon            63..442
                     /gene="NLRP5"
                     /gene_synonym="CLR19.8; MATER; NALP5; OZEMA19; PAN11;
                     PYPAF8"
                     /inference="alignment:Splign:2.1.0"
     exon            443..508
                     /gene="NLRP5"
                     /gene_synonym="CLR19.8; MATER; NALP5; OZEMA19; PAN11;
                     PYPAF8"
                     /inference="alignment:Splign:2.1.0"
     exon            509..565
                     /gene="NLRP5"
                     /gene_synonym="CLR19.8; MATER; NALP5; OZEMA19; PAN11;
                     PYPAF8"
                     /inference="alignment:Splign:2.1.0"
     exon            566..622
                     /gene="NLRP5"
                     /gene_synonym="CLR19.8; MATER; NALP5; OZEMA19; PAN11;
                     PYPAF8"
                     /inference="alignment:Splign:2.1.0"
     exon            623..679
                     /gene="NLRP5"
                     /gene_synonym="CLR19.8; MATER; NALP5; OZEMA19; PAN11;
                     PYPAF8"
                     /inference="alignment:Splign:2.1.0"
     exon            680..2276
                     /gene="NLRP5"
                     /gene_synonym="CLR19.8; MATER; NALP5; OZEMA19; PAN11;
                     PYPAF8"
                     /inference="alignment:Splign:2.1.0"
     exon            2277..2447
                     /gene="NLRP5"
                     /gene_synonym="CLR19.8; MATER; NALP5; OZEMA19; PAN11;
                     PYPAF8"
                     /inference="alignment:Splign:2.1.0"
     exon            2448..2615
                     /gene="NLRP5"
                     /gene_synonym="CLR19.8; MATER; NALP5; OZEMA19; PAN11;
                     PYPAF8"
                     /inference="alignment:Splign:2.1.0"
     exon            2616..2786
                     /gene="NLRP5"
                     /gene_synonym="CLR19.8; MATER; NALP5; OZEMA19; PAN11;
                     PYPAF8"
                     /inference="alignment:Splign:2.1.0"
     exon            2787..2957
                     /gene="NLRP5"
                     /gene_synonym="CLR19.8; MATER; NALP5; OZEMA19; PAN11;
                     PYPAF8"
                     /inference="alignment:Splign:2.1.0"
     exon            2958..3128
                     /gene="NLRP5"
                     /gene_synonym="CLR19.8; MATER; NALP5; OZEMA19; PAN11;
                     PYPAF8"
                     /inference="alignment:Splign:2.1.0"
     exon            3129..3299
                     /gene="NLRP5"
                     /gene_synonym="CLR19.8; MATER; NALP5; OZEMA19; PAN11;
                     PYPAF8"
                     /inference="alignment:Splign:2.1.0"
     exon            3300..3470
                     /gene="NLRP5"
                     /gene_synonym="CLR19.8; MATER; NALP5; OZEMA19; PAN11;
                     PYPAF8"
                     /inference="alignment:Splign:2.1.0"
     exon            3471..3885
                     /gene="NLRP5"
                     /gene_synonym="CLR19.8; MATER; NALP5; OZEMA19; PAN11;
                     PYPAF8"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3862..3867
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NLRP5"
                     /gene_synonym="CLR19.8; MATER; NALP5; OZEMA19; PAN11;
                     PYPAF8"
                     /note="hexamer: AATAAA"
     polyA_site      3885
                     /gene="NLRP5"
                     /gene_synonym="CLR19.8; MATER; NALP5; OZEMA19; PAN11;
                     PYPAF8"
                     /note="major polyA site"
ORIGIN      
        1 atgaaggttg caggaggact tgaacttgga gctgctgctc tgctctcagc atcaccacgt
       61 gctcttgtca ctctttccac aggtcctact tgctctatat taccaaagaa tccacttttc
      121 ccccaaaacc tgagctctca gccttgtatc aagatggaag gagacaaatc gctcaccttt
      181 tccagctacg ggctgcaatg gtgtctctat gagctagaca aggaagaatt tcagacattc
      241 aaggaattac taaagaagaa atcttcagaa tcgaccacat gctctattcc acagtttgaa
      301 atcgagaatg ccaacgtgga atgtctggca ctcctcttgc atgagtatta tggagcatcg
      361 ctggcctggg ctacgtccat tagcatcttt gaaaacatga acctgcgaac cctctcggag
      421 aaggcacggg atgacatgaa aagacattca ccagaagatc ctgaagcaac gatgactgac
      481 caaggaccaa gcaaggaaaa agtgccagga atttcacaag ctgtgcaaca agatagtgcc
      541 acagctgcag agacaaaaga acaagaaatt tcacaagcta tggaacaaga aggtgccaca
      601 gcagcagaga cagaagaaca agaaatttca caagctatgg aacaagaagg tgccacagca
      661 gcagagacag aagaacaagg acatggaggt gacacatggg actacaagag tcacgtgatg
      721 accaaattcg ctgaggagga ggatgtacgt cgtagttttg aaaacactgc tgctgactgg
      781 ccggaaatgc aaacgttggc tggtgctttt gattcagacc ggtggggctt ccggcctcgc
      841 acggtggttc tgcacggaaa gtcaggaatt gggaaatcgg ctctagccag aaggatcgtg
      901 ctgtgctggg cgcaaggtgg actctaccag ggaatgttct cctacgtctt cttcctcccc
      961 gttagagaga tgcagcggaa gaaggagagc agtgtcacag agttcatctc cagggagtgg
     1021 ccagactccc aggctccggt gacggagatc atgtcccgac cagaaaggct gttgttcatc
     1081 attgacggtt tcgatgacct gggctctgtc ctcaacaatg acacaaagct ctgcaaagac
     1141 tgggctgaga agcagcctcc gttcaccctc atacgcagtc tgctgaggaa ggtcctgctc
     1201 cctgagtcct tcctgatcgt caccgtcaga gacgtgggca cagagaagct caagtcagag
     1261 gtcgtgtctc cccgttacct gttagttaga ggaatctccg gggaacaaag aatccacttg
     1321 ctccttgagc gcgggattgg tgagcatcag aagacacaag ggttgcgtgc gatcatgaac
     1381 aaccgtgagc tgctcgacca gtgccaggtg cccgccgtgg gctctctcat ctgcgtggcc
     1441 ctgcagctgc aggacgtggt gggggagagc gtcgccccct tcaaccaaac gctcacaggc
     1501 ctgcacgccg cttttgtgtt tcatcagctc acccctcgag gcgtggtccg gcgctgtctc
     1561 aatctggagg aaagagttgt cctgaagcgc ttctgccgta tggctgtgga gggagtgtgg
     1621 aataggaagt cagtgtttga cggtgacgac ctcatggttc aaggactcgg ggagtctgag
     1681 ctccgtgctc tgtttcacat gaacatcctt ctcccagaca gccactgtga ggagtactac
     1741 accttcttcc acctcagtct ccaggacttc tgtgccgcct tgtactacgt gttagagggc
     1801 ctggaaatcg agccagctct ctgccctctg tacgttgaga agacaaagag gtccatggag
     1861 cttaaacagg caggcttcca tatccactcg ctttggatga agcgtttctt gtttggcctc
     1921 gtgagcgaag acgtaaggag gccactggag gtcctgctgg gctgtcccgt tcccctgggg
     1981 gtgaagcaga agcttctgca ctgggtctct ctgttgggtc agcagcctaa tgccaccacc
     2041 ccaggagaca ccctggacgc cttccactgt cttttcgaga ctcaagacaa agagtttgtt
     2101 cgcttggcat taaacagctt ccaagaagtg tggcttccga ttaaccagaa cctggacttg
     2161 atagcatctt ccttctgcct ccagcactgt ccgtatttgc ggaaaattcg ggtggatgtc
     2221 aaagggatct tcccaagaga tgagtccgct gaggcatgtc ctgtggtccc tctatggatg
     2281 cgggataaga ccctcattga ggagcagtgg gaagatttct gctccatgct tggcacccac
     2341 ccacacctgc ggcagctgga cctgggcagc agcatcctga cagagcgggc catgaagacc
     2401 ctgtgtgcca agctgaggca tcccacctgc aagatacaga ccctgatgtt tagaaatgca
     2461 cagattaccc ctggtgtgca gcacctctgg agaatcgtca tggccaaccg taacctaaga
     2521 tccctcaact tgggaggcac ccacctgaag gaagaggatg taaggatggc gtgtgaagcc
     2581 ttaaaacacc caaaatgttt gttggagtct ttgaggctgg attgctgtgg attgacccat
     2641 gcctgttacc tgaagatctc ccaaatcctt acgacctccc ccagcctgaa atctctgagc
     2701 ctggcaggaa acaaggtgac agaccaggga gtaatgcctc tcagtgatgc cttgagagtc
     2761 tcccagtgcg ccctgcagaa gctgatactg gaggactgtg gcatcacagc cacgggttgc
     2821 cagagtctgg cctcagccct cgtcagcaac cggagcttga cacacctgtg cctatccaac
     2881 aacagcctgg ggaacgaagg tgtaaatcta ctgtgtcgat ccatgaggct tccccactgt
     2941 agtctgcaga ggctgatgct gaatcagtgc cacctggaca cggctggctg tggttttctt
     3001 gcacttgcgc ttatgggtaa ctcatggctg acgcacctga gccttagcat gaaccctgtg
     3061 gaagacaatg gcgtgaagct tctgtgcgag gtcatgagag aaccatcttg tcatctccag
     3121 gacctggagt tggtaaagtg tcatctcacc gccgcgtgct gtgagagtct gtcctgtgtg
     3181 atctcgagga gcagacacct gaagagcctg gatctcacgg acaatgccct gggtgacggt
     3241 ggggttgctg cgctgtgcga gggactgaag caaaagaaca gtgttctggc gagactcggg
     3301 ttgaaggcat gtggactgac ttctgattgc tgtgaggcac tctccttggc cctttcctgc
     3361 aaccggcatc tgaccagtct aaacctggtg cagaataact tcagtcccaa aggaatgatg
     3421 aagctgtgtt cggcctttgc ctgtcccacg tctaacttac agataattgg gctgtggaaa
     3481 tggcagtacc ctgtgcaaat aaggaagctg ctggaggaag tgcagctact caagccccga
     3541 gtcgtaattg acggtagttg gcattctttt gatgaagatg accggtactg gtggaaaaac
     3601 tgaagatacg gaaacctgcc ccactcacac ccatctgatg gaggaacttt aaacgctgtt
     3661 ttctcagagc aagctatgca cctgggagtt ccttctcaaa gatggagaat gatttctgat
     3721 tctcacaaag ccctcaatgg tagtgattct tctgtgttca ctctacgttg gttactggat
     3781 ttgaaggcta gagaccttca agtcatagga ctcagtatct gtgaaatgtc cgtcatatct
     3841 cagagcatat agagggaatt aaataaacac aaagcatttg gaaaa
//
