LOCUS       NM_176822               3813 bp    mRNA    linear   PRI 01-JUN-2024
DEFINITION  Homo sapiens NLR family pyrin domain containing 14 (NLRP14), mRNA.
ACCESSION   NM_176822
VERSION     NM_176822.4
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 3813)
  AUTHORS   Zhang,W., Zhang,R., Wu,L., Zhu,C., Zhang,C., Xu,C., Zhao,S.,
            Liu,X., Guo,T., Lu,Y., Gao,Z., Yu,X., Li,L., Chen,Z.J., Qin,Y. and
            Jiao,X.
  TITLE     NLRP14 deficiency causes female infertility with oocyte maturation
            defects and early embryonic arrest by impairing cytoplasmic UHRF1
            abundance
  JOURNAL   Cell Rep 42 (12), 113531 (2023)
   PUBMED   38060382
  REMARK    GeneRIF: NLRP14 deficiency causes female infertility with oocyte
            maturation defects and early embryonic arrest by impairing
            cytoplasmic UHRF1 abundance.
REFERENCE   2  (bases 1 to 3813)
  AUTHORS   Abe,T., Lee,A., Sitharam,R., Kesner,J., Rabadan,R. and Shapira,S.D.
  TITLE     Germ-Cell-Specific Inflammasome Component NLRP14 Negatively
            Regulates Cytosolic Nucleic Acid Sensing to Promote Fertilization
  JOURNAL   Immunity 46 (4), 621-634 (2017)
   PUBMED   28423339
  REMARK    GeneRIF: Data show that NLRP14 expression was rapidly downregulated
            after fertilization.
REFERENCE   3  (bases 1 to 3813)
  AUTHORS   Huber,R.G., Eibl,C. and Fuchs,J.E.
  TITLE     Intrinsic flexibility of NLRP pyrin domains is a key factor in
            their conformational dynamics, fold stability, and dimerization
  JOURNAL   Protein Sci 24 (2), 174-181 (2015)
   PUBMED   25403012
  REMARK    GeneRIF: This study describes conformational stability of native
            NLRP14 and mutants in their monomeric and dimeric states and
            compares them to NLRP4, a representative of a native pyrin domain
            fold.
REFERENCE   4  (bases 1 to 3813)
  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   5  (bases 1 to 3813)
  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   6  (bases 1 to 3813)
  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   7  (bases 1 to 3813)
  AUTHORS   Westerveld,G.H., Korver,C.M., van Pelt,A.M., Leschot,N.J., van der
            Veen,F., Repping,S. and Lombardi,M.P.
  TITLE     Mutations in the testis-specific NALP14 gene in men suffering from
            spermatogenic failure
  JOURNAL   Hum Reprod 21 (12), 3178-3184 (2006)
   PUBMED   16931801
  REMARK    GeneRIF: Our data suggest that NALP14 has a function in
            spermatogenesis and that mutations in this gene might cause
            spermatogenic failure.
REFERENCE   8  (bases 1 to 3813)
  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   9  (bases 1 to 3813)
  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 AC100875.3.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Dec 2, 2019 this sequence version replaced NM_176822.3.
            
            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). This protein may play a regulatory role in the
            innate immune system as similar family members belong to the
            signal-induced multiprotein complex, the inflammasome, that
            activates the pro-inflammatory caspases, caspase-1 and caspase-5.
            [provided by RefSeq, Jul 2008].
            
            ##Evidence-Data-START##
            CDS exon combination :: BK001107.1, AY154469.1 [ECO:0000331]
            RNAseq introns       :: mixed sample support SAMEA1965299,
                                    SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000299481.5/ ENSP00000299481.5
            RefSeq Select criteria :: based on conservation, longest protein
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-292               AC100875.3         137441-137732       c
            293-602             AC100875.3         119336-119645       c
            603-674             AC100875.3         118426-118497       c
            675-2271            AC100875.3         114227-115823       c
            2272-2436           AC100875.3         111379-111543       c
            2437-2604           AC100875.3         108373-108540       c
            2605-2775           AC100875.3         100364-100534       c
            2776-2946           AC100875.3         99761-99931         c
            2947-3117           AC100875.3         98147-98317         c
            3118-3288           AC100875.3         95708-95878         c
            3289-3459           AC100875.3         87755-87925         c
            3460-3813           AC100875.3         86685-87038         c
FEATURES             Location/Qualifiers
     source          1..3813
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.4"
     gene            1..3813
                     /gene="NLRP14"
                     /gene_synonym="CLR11.2; GC-LRR; NALP14; NOD5; PAN8"
                     /note="NLR family pyrin domain containing 14"
                     /db_xref="GeneID:338323"
                     /db_xref="HGNC:HGNC:22939"
                     /db_xref="MIM:609665"
     exon            1..292
                     /gene="NLRP14"
                     /gene_synonym="CLR11.2; GC-LRR; NALP14; NOD5; PAN8"
                     /inference="alignment:Splign:2.1.0"
     exon            293..602
                     /gene="NLRP14"
                     /gene_synonym="CLR11.2; GC-LRR; NALP14; NOD5; PAN8"
                     /inference="alignment:Splign:2.1.0"
     CDS             314..3595
                     /gene="NLRP14"
                     /gene_synonym="CLR11.2; GC-LRR; NALP14; NOD5; PAN8"
                     /note="NACHT, leucine rich repeat and PYD containing 14;
                     nucleotide-binding oligomerization domain, leucine rich
                     repeat and pyrin domain containing 14; nucleotide-binding
                     oligomerization domain protein 5; NACHT, LRR and PYD
                     containing protein 14"
                     /codon_start=1
                     /product="NACHT, LRR and PYD domains-containing protein
                     14"
                     /protein_id="NP_789792.1"
                     /db_xref="CCDS:CCDS7776.1"
                     /db_xref="GeneID:338323"
                     /db_xref="HGNC:HGNC:22939"
                     /db_xref="MIM:609665"
                     /translation="MADSSSSSFFPDFGLLLYLEELNKEELNTFKLFLKETMEPEHGL
                     TPWNEVKKARREDLANLMKKYYPGEKAWSVSLKIFGKMNLKDLCERAKEEINWSAQTI
                     GPDDAKAGETQEDQEAVLGDGTEYRNRIKEKFCITWDKKSLAGKPEDFHHGIAEKDRK
                     LLEHLFDVDVKTGAQPQIVVLQGAAGVGKTTLVRKAMLDWAEGSLYQQRFKYVFYLNG
                     REINQLKERSFAQLISKDWPSTEGPIEEIMYQPSSLLFIIDSFDELNFAFEEPEFALC
                     EDWTQEHPVSFLMSSLLRKVMLPEASLLVTTRLTTSKRLKQLLKNHHYVELLGMSEDA
                     REEYIYQFFEDKRWAMKVFSSLKSNEMLFSMCQVPLVCWAACTCLKQQMEKGGDVTLT
                     CQTTTALFTCYISSLFTPVDGGSPSLPNQAQLRRLCQVAAKGIWTMTYVFYRENLRRL
                     GLTQSDVSSFMDSNIIQKDAEYENCYVFTHLHVQEFFAAMFYMLKGSWEAGNPSCQPF
                     EDLKSLLQSTSYKDPHLTQMKCFLFGLLNEDRVKQLERTFNCKMSLKIKSKLLQCMEV
                     LGNSDYSPSQLGFLELFHCLYETQDKAFISQAMRCFPKVAINICEKIHLLVSSFCLKH
                     CRCLRTIRLSVTVVFEKKILKTSLPTNTWDGDRITHCWQDLCSVLHTNEHLRELDLYH
                     SNLDKSAMNILHHELRHPNCKLQKLLLKFITFPDGCQDISTSLIHNKNLMHLDLKGSD
                     IGDNGVKSLCEALKHPECKLQTLRLESCNLTVFCCLNISNALIRSQSLIFLNLSTNNL
                     LDDGVQLLCEALRHPKCYLERLSLESCGLTEAGCEYLSLALISNKRLTHLCLADNVLG
                     DGGVKLMSDALQHAQCTLKSLVLRRCHFTSLSSEYLSTSLLHNKSLTHLDLGSNWLQD
                     NGVKLLCDVFRHPSCNLQDLELMGCVLTNACCLDLASVILNNPNLRSLDLGNNDLQDD
                     GVKILCDALRYPNCNIQRLGLEYCGLTSLCCQDLSSALICNKRLIKMNLTQNTLGYEG
                     IVKLYKVLKSPKCKLQVLGLCKEAFDEEAQKLLEAVGVSNPHLIIKPDCNYHNEEDVS
                     WWWCF"
     exon            603..674
                     /gene="NLRP14"
                     /gene_synonym="CLR11.2; GC-LRR; NALP14; NOD5; PAN8"
                     /inference="alignment:Splign:2.1.0"
     exon            675..2271
                     /gene="NLRP14"
                     /gene_synonym="CLR11.2; GC-LRR; NALP14; NOD5; PAN8"
                     /inference="alignment:Splign:2.1.0"
     exon            2272..2436
                     /gene="NLRP14"
                     /gene_synonym="CLR11.2; GC-LRR; NALP14; NOD5; PAN8"
                     /inference="alignment:Splign:2.1.0"
     exon            2437..2604
                     /gene="NLRP14"
                     /gene_synonym="CLR11.2; GC-LRR; NALP14; NOD5; PAN8"
                     /inference="alignment:Splign:2.1.0"
     exon            2605..2775
                     /gene="NLRP14"
                     /gene_synonym="CLR11.2; GC-LRR; NALP14; NOD5; PAN8"
                     /inference="alignment:Splign:2.1.0"
     exon            2776..2946
                     /gene="NLRP14"
                     /gene_synonym="CLR11.2; GC-LRR; NALP14; NOD5; PAN8"
                     /inference="alignment:Splign:2.1.0"
     exon            2947..3117
                     /gene="NLRP14"
                     /gene_synonym="CLR11.2; GC-LRR; NALP14; NOD5; PAN8"
                     /inference="alignment:Splign:2.1.0"
     exon            3118..3288
                     /gene="NLRP14"
                     /gene_synonym="CLR11.2; GC-LRR; NALP14; NOD5; PAN8"
                     /inference="alignment:Splign:2.1.0"
     exon            3289..3459
                     /gene="NLRP14"
                     /gene_synonym="CLR11.2; GC-LRR; NALP14; NOD5; PAN8"
                     /inference="alignment:Splign:2.1.0"
     exon            3460..3813
                     /gene="NLRP14"
                     /gene_synonym="CLR11.2; GC-LRR; NALP14; NOD5; PAN8"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 attcctgcgc gggcgggagc tgcgggcgct cgggggataa ggcgaggacg caccagcatt
       61 aatggaatag gagaactccc gaagctttta gggccctggg aaagggggcg tggctggaaa
      121 cggagctact ggcttcggag aattctgtga ccctcaccac cgcgacgacc ccgaggaaac
      181 gctgtcaggt cgcctttggt tggcaaggcg tggttgtcct cgctgtcccg cgccttggcg
      241 gaatgggcac ctcactagcc ctggcactag ctagcatcgc tctaaactca agaggcctga
      301 atatttggac aagatggcag attcatcatc atcttctttc tttcctgatt ttgggctgct
      361 attgtatttg gaggagctaa acaaagagga attaaataca ttcaagttat tcctaaagga
      421 gaccatggaa cctgagcatg gcctgacacc ctggaatgaa gtgaagaagg ccaggcggga
      481 ggacctggcc aatttgatga agaaatatta tccaggagag aaagcctgga gtgtgtctct
      541 caaaatcttt ggcaagatga acctgaagga tctgtgtgag agagcgaaag aagagatcaa
      601 ctggtcggcc cagactatag gaccagatga tgccaaggct ggagagacac aagaagatca
      661 ggaggcagtg ctgggtgatg gaacagaata cagaaataga ataaaggaaa aattttgcat
      721 cacttgggac aagaagtctt tggctggaaa gcctgaagat ttccatcatg gaattgcaga
      781 gaaagataga aaactgttgg aacacttgtt cgatgtggat gtcaaaaccg gtgcacagcc
      841 acagatcgtg gtgcttcagg gagctgctgg agttgggaaa acaaccttgg tgagaaaggc
      901 aatgttagat tgggcagagg gcagtctcta ccagcagagg tttaagtatg ttttttatct
      961 caatgggaga gaaattaacc agctgaaaga gagaagcttt gctcaattga tatcaaagga
     1021 ctggcccagc acagaaggcc ccattgaaga aatcatgtac cagccaagta gcctcttgtt
     1081 tattattgac agtttcgatg aactgaactt tgcctttgaa gaacctgagt ttgcactgtg
     1141 cgaagactgg acccaagaac acccagtgtc cttcctcatg agtagtttgc tgaggaaagt
     1201 gatgctccct gaggcatcct tattggtgac aacaagactc acaacttcta agagactaaa
     1261 gcagttgttg aagaatcacc attatgtaga gctactagga atgtctgagg atgcaagaga
     1321 ggagtatatt taccagtttt ttgaagataa gaggtgggcc atgaaagtat tcagttcact
     1381 aaaaagcaat gagatgctgt ttagcatgtg ccaagtcccc ctagtgtgct gggccgcttg
     1441 tacttgtctg aagcagcaaa tggagaaggg tggtgatgtc acattgacct gccaaacaac
     1501 cacagctctg tttacctgct atatttctag cttgttcaca ccagtagatg gaggctctcc
     1561 tagtctaccc aaccaagccc agctgagaag actgtgccaa gtcgctgcca aaggaatatg
     1621 gactatgact tacgtgtttt acagagaaaa tctcagaagg cttgggttaa ctcaatctga
     1681 tgtctctagt tttatggaca gcaatattat tcagaaggac gcagagtatg aaaactgcta
     1741 tgtgttcacc caccttcatg ttcaggagtt ttttgcagct atgttctata tgttgaaagg
     1801 cagttgggaa gctgggaacc cttcctgcca gccttttgaa gatttgaagt cattacttca
     1861 aagcacaagt tataaagacc cccatttgac acagatgaag tgctttttgt ttggcctttt
     1921 gaatgaagat cgagtaaaac aactggagag gacttttaac tgtaaaatgt cactgaagat
     1981 aaaatcaaag ttacttcagt gtatggaagt attaggaaac agtgactatt ctccatcaca
     2041 gctgggattt ctggagttgt ttcactgtct gtatgagact caagataaag cgtttataag
     2101 ccaggcaatg agatgtttcc caaaggttgc cattaatatt tgtgagaaaa tacatttgct
     2161 tgtatcttct ttctgcctta agcactgccg gtgtttgcgg accatcaggc tgtctgtaac
     2221 tgtggtattt gagaagaaga tattaaaaac aagcctccca actaacactt gggatggtga
     2281 tcgcattact cactgttggc aagatctctg ttctgtgctt catacaaatg aacacttgag
     2341 agaattggac ctgtaccata gcaaccttga taaatcagca atgaatatcc tgcatcatga
     2401 actaaggcac ccaaactgta aactacaaaa gctactgttg aaatttatca ctttccctga
     2461 tggttgtcag gatatctcta cttctttgat tcataacaag aatctgatgc atcttgacct
     2521 aaaagggagt gatatagggg ataatggagt aaagtcattg tgtgaggcct tgaaacaccc
     2581 agagtgtaaa ctacagactc tcaggctgga atcttgcaac ctaactgtat tttgttgtct
     2641 aaatatatct aatgctctca tcagaagcca gagcctgata tttctgaatc tgtcaaccaa
     2701 taatctgttg gatgatggag tgcagctttt gtgtgaggcc ttaagacatc caaagtgtta
     2761 tctagagaga ctgtccttag aaagctgtgg tctcacagag gctggctgtg agtatctttc
     2821 tttggctctc atcagcaata aaagactgac acatttgtgc ttggcagaca atgtcttggg
     2881 tgatggtgga gtaaagctta tgagtgatgc cctgcaacat gcacaatgta ctctgaagag
     2941 ccttgtgctg aggcgttgcc atttcacttc acttagcagt gaatatctgt caacttctct
     3001 tctacacaac aagagcctga cgcatctgga tctaggatca aactggctac aagacaatgg
     3061 agtgaagctt ctgtgtgatg tctttcggca tccaagctgt aatcttcagg acttggaatt
     3121 gatgggctgt gttctcacta atgcatgttg tctggatctg gcttctgtta ttttgaataa
     3181 cccaaacctg aggagcctgg accttgggaa caacgatttg caggatgatg gagtgaaaat
     3241 tctgtgtgat gctttgagat atccaaactg taacattcag aggctcgggt tggaatactg
     3301 tggtttgaca tctctctgct gtcaagatct ctcctctgct cttatctgca acaaaagact
     3361 gataaaaatg aatctgacac agaatacctt aggatatgaa ggaattgtga agttatataa
     3421 agtcttgaag tctcctaagt gtaaactaca agttctaggg ttgtgcaaag aggcatttga
     3481 tgaggaagcc cagaagctgc tggaagctgt gggagttagc aatccacact taatcattaa
     3541 gccagattgt aactatcata atgaagaaga tgtgtcttgg tggtggtgtt tctgatttga
     3601 agaaactgac attcctttaa aaatataaat ataaatacat acatacatag atatataccc
     3661 agacttgggt gcttagcttc agatactcta tgcccagaga tagtgcactt ggcagctgtc
     3721 agataccatt catctacttc tctgtaaaat gtctgttcta cttcacacag tggtcgagag
     3781 gctaaaataa aatgaaaagc ataaaactct ctg
//
