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P59046

- NAL12_HUMAN

UniProt

P59046 - NAL12_HUMAN

Protein

NACHT, LRR and PYD domains-containing protein 12

Gene

NLRP12

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 122 (01 Oct 2014)
      Sequence version 2 (22 Aug 2003)
      Previous versions | rss
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    Functioni

    May mediate activation of CASP1 via ASC and promote activation of NF-kappa-B via IKK.

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Nucleotide bindingi217 – 2248ATP

    GO - Molecular functioni

    1. ATP binding Source: UniProtKB-KW
    2. cysteine-type endopeptidase activator activity involved in apoptotic process Source: UniProtKB
    3. protein binding Source: UniProtKB

    GO - Biological processi

    1. activation of cysteine-type endopeptidase activity involved in apoptotic process Source: UniProtKB
    2. cellular response to cytokine stimulus Source: Ensembl
    3. dendritic cell migration Source: Ensembl
    4. negative regulation of cytokine secretion Source: HGNC
    5. negative regulation of ERK1 and ERK2 cascade Source: Ensembl
    6. negative regulation of I-kappaB kinase/NF-kappaB signaling Source: HGNC
    7. negative regulation of inflammatory response Source: BHF-UCL
    8. negative regulation of interleukin-1 secretion Source: HGNC
    9. negative regulation of interleukin-6 biosynthetic process Source: HGNC
    10. negative regulation of NF-kappaB transcription factor activity Source: BHF-UCL
    11. negative regulation of NIK/NF-kappaB signaling Source: Ensembl
    12. negative regulation of protein autophosphorylation Source: HGNC
    13. negative regulation of signal transduction Source: HGNC
    14. negative regulation of Toll signaling pathway Source: HGNC
    15. positive regulation of inflammatory response Source: UniProtKB
    16. positive regulation of interleukin-1 beta secretion Source: UniProtKB
    17. positive regulation of MHC class I biosynthetic process Source: MGI
    18. regulation of cysteine-type endopeptidase activity involved in apoptotic process Source: MGI
    19. regulation of I-kappaB kinase/NF-kappaB signaling Source: MGI
    20. regulation of interleukin-18 biosynthetic process Source: UniProtKB
    21. release of cytoplasmic sequestered NF-kappaB Source: UniProtKB
    22. signal transduction Source: UniProtKB

    Keywords - Ligandi

    ATP-binding, Nucleotide-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    NACHT, LRR and PYD domains-containing protein 12
    Alternative name(s):
    Monarch-1
    PYRIN-containing APAF1-like protein 7
    Regulated by nitric oxide
    Gene namesi
    Name:NLRP12
    Synonyms:NALP12, PYPAF7, RNO
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 19

    Organism-specific databases

    HGNCiHGNC:22938. NLRP12.

    Subcellular locationi

    GO - Cellular componenti

    1. cytoplasm Source: UniProtKB

    Keywords - Cellular componenti

    Cytoplasm

    Pathology & Biotechi

    Involvement in diseasei

    Familial cold autoinflammatory syndrome 2 (FCAS2) [MIM:611762]: A rare autosomal dominant systemic inflammatory disease characterized by recurrent episodes of maculopapular rash associated with arthralgias, myalgias, fever and chills, swelling of the extremities, and conjunctivitis after generalized exposure to cold.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    Organism-specific databases

    MIMi611762. phenotype.
    Orphaneti247868. NLRP12-associated hereditary periodic fever syndrome.
    PharmGKBiPA162397866.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 10611061NACHT, LRR and PYD domains-containing protein 12PRO_0000080899Add
    BLAST

    Proteomic databases

    PaxDbiP59046.
    PRIDEiP59046.

    PTM databases

    PhosphoSiteiP59046.

    Expressioni

    Tissue specificityi

    Detected only in peripheral blood leukocytes, predominantly in eosinophils and granulocytes, and at lower levels in monocytes.1 Publication

    Inductioni

    By nitric oxide and DMSO in HL-60 cells, an acute myeloid leukemia cell line.1 Publication

    Gene expression databases

    ArrayExpressiP59046.
    BgeeiP59046.
    CleanExiHS_NLRP12.
    GenevestigatoriP59046.

    Organism-specific databases

    HPAiHPA042981.

    Interactioni

    Subunit structurei

    Binds to ASC with its DAPIN domain. Interacts with FAF1 UBA domain via its DAPIN domain.1 Publication

    Protein-protein interaction databases

    BioGridi124861. 6 interactions.
    IntActiP59046. 24 interactions.
    MINTiMINT-237788.
    STRINGi9606.ENSP00000319377.

    Structurei

    Secondary structure

    1
    1061
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Helixi10 – 178
    Helixi22 – 3312
    Turni37 – 404
    Turni47 – 504
    Helixi53 – 6311
    Helixi66 – 7712
    Helixi78 – 803
    Helixi83 – 875
    Beta strandi95 – 984

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    2L6ANMR-A1-98[»]
    ProteinModelPortaliP59046.
    SMRiP59046. Positions 1-98, 208-233, 633-1059.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiP59046.

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini1 – 9595DAPINPROSITE-ProRule annotationAdd
    BLAST
    Domaini211 – 528318NACHTPROSITE-ProRule annotationAdd
    BLAST
    Repeati828 – 84821LRR 1Add
    BLAST
    Repeati857 – 87822LRR 2Add
    BLAST
    Repeati885 – 90622LRR 3Add
    BLAST
    Repeati914 – 93522LRR 4Add
    BLAST
    Repeati942 – 96221LRR 5Add
    BLAST
    Repeati971 – 99222LRR 6Add
    BLAST
    Repeati999 – 102022LRR 7Add
    BLAST
    Repeati1028 – 104922LRR 8Add
    BLAST

    Sequence similaritiesi

    Belongs to the NLRP family.Curated
    Contains 1 DAPIN domain.PROSITE-ProRule annotation
    Contains 8 LRR (leucine-rich) repeats.Curated
    Contains 1 NACHT domain.PROSITE-ProRule annotation

    Keywords - Domaini

    Leucine-rich repeat, Repeat

    Phylogenomic databases

    eggNOGiNOG82860.
    HOGENOMiHOG000294064.
    HOVERGENiHBG063656.
    OrthoDBiEOG7P5T07.
    PhylomeDBiP59046.
    TreeFamiTF340267.

    Family and domain databases

    Gene3Di1.10.533.10. 1 hit.
    InterProiIPR004020. DAPIN.
    IPR011029. DEATH-like_dom.
    IPR001611. Leu-rich_rpt.
    IPR007111. NACHT_NTPase.
    IPR029495. NATCH-assoc.
    IPR027417. P-loop_NTPase.
    [Graphical view]
    PfamiPF14484. FISNA. 1 hit.
    PF02758. PYRIN. 1 hit.
    [Graphical view]
    SUPFAMiSSF47986. SSF47986. 1 hit.
    SSF52540. SSF52540. 1 hit.
    PROSITEiPS50824. DAPIN. 1 hit.
    PS51450. LRR. 5 hits.
    PS50837. NACHT. 1 hit.
    [Graphical view]

    Sequences (7)i

    Sequence statusi: Complete.

    This entry describes 7 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: P59046-1) [UniParc]FASTAAdd to Basket

    Also known as: I

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MLRTAGRDGL CRLSTYLEEL EAVELKKFKL YLGTATELGE GKIPWGSMEK     50
    AGPLEMAQLL ITHFGPEEAW RLALSTFERI NRKDLWERGQ REDLVRDTPP 100
    GGPSSLGNQS TCLLEVSLVT PRKDPQETYR DYVRRKFRLM EDRNARLGEC 150
    VNLSHRYTRL LLVKEHSNPM QVQQQLLDTG RGHARTVGHQ ASPIKIETLF 200
    EPDEERPEPP RTVVMQGAAG IGKSMLAHKV MLDWADGKLF QGRFDYLFYI 250
    NCREMNQSAT ECSMQDLIFS CWPEPSAPLQ ELIRVPERLL FIIDGFDELK 300
    PSFHDPQGPW CLCWEEKRPT ELLLNSLIRK KLLPELSLLI TTRPTALEKL 350
    HRLLEHPRHV EILGFSEAER KEYFYKYFHN AEQAGQVFNY VRDNEPLFTM 400
    CFVPLVCWVV CTCLQQQLEG GGLLRQTSRT TTAVYMLYLL SLMQPKPGAP 450
    RLQPPPNQRG LCSLAADGLW NQKILFEEQD LRKHGLDGED VSAFLNMNIF 500
    QKDINCERYY SFIHLSFQEF FAAMYYILDE GEGGAGPDQD VTRLLTEYAF 550
    SERSFLALTS RFLFGLLNEE TRSHLEKSLC WKVSPHIKMD LLQWIQSKAQ 600
    SDGSTLQQGS LEFFSCLYEI QEEEFIQQAL SHFQVIVVSN IASKMEHMVS 650
    SFCLKRCRSA QVLHLYGATY SADGEDRARC SAGAHTLLVQ LPERTVLLDA 700
    YSEHLAAALC TNPNLIELSL YRNALGSRGV KLLCQGLRHP NCKLQNLRLK 750
    RCRISSSACE DLSAALIANK NLTRMDLSGN GVGFPGMMLL CEGLRHPQCR 800
    LQMIQLRKCQ LESGACQEMA SVLGTNPHLV ELDLTGNALE DLGLRLLCQG 850
    LRHPVCRLRT LWLKICRLTA AACDELASTL SVNQSLRELD LSLNELGDLG 900
    VLLLCEGLRH PTCKLQTLRL GICRLGSAAC EGLSVVLQAN HNLRELDLSF 950
    NDLGDWGLWL LAEGLQHPAC RLQKLWLDSC GLTAKACENL YFTLGINQTL 1000
    TDLYLTNNAL GDTGVRLLCK RLSHPGCKLR VLWLFGMDLN KMTHSRLAAL 1050
    RVTKPYLDIG C 1061
    Length:1,061
    Mass (Da):120,173
    Last modified:August 22, 2003 - v2
    Checksum:i8C10AFE4907C131B
    GO
    Isoform 2 (identifier: P59046-2) [UniParc]FASTAAdd to Basket

    Also known as: II

    The sequence of this isoform differs from the canonical sequence as follows:
         976-1031: Missing.

    Show »
    Length:1,005
    Mass (Da):114,006
    Checksum:i79BD8925AA43644F
    GO
    Isoform 3 (identifier: P59046-3) [UniParc]FASTAAdd to Basket

    Also known as: III

    The sequence of this isoform differs from the canonical sequence as follows:
         862-973: Missing.

    Show »
    Length:949
    Mass (Da):107,913
    Checksum:i99995A1C7261D636
    GO
    Isoform 4 (identifier: P59046-4) [UniParc]FASTAAdd to Basket

    Also known as: IV

    The sequence of this isoform differs from the canonical sequence as follows:
         862-1031: Missing.

    Show »
    Length:891
    Mass (Da):101,504
    Checksum:i43093A9B22873A00
    GO
    Isoform 5 (identifier: P59046-5) [UniParc]FASTAAdd to Basket

    Also known as: rno-2

    The sequence of this isoform differs from the canonical sequence as follows:
         1-717: Missing.
         718-748: LSLYRNALGSRGVKLLCQGLRHPNCKLQNLR → MSQAWWHTSVSPATQEAKAGGLLQPRRQRLW
         921-977: Missing.

    Show »
    Length:287
    Mass (Da):31,765
    Checksum:iBD3816C3255B2F9E
    GO
    Isoform 6 (identifier: P59046-6) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         920-976: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:1,004
    Mass (Da):113,876
    Checksum:i7D7350A83F286749
    GO
    Isoform 7 (identifier: P59046-7) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         691-691: L → LR

    Note: No experimental confirmation.

    Show »
    Length:1,062
    Mass (Da):120,329
    Checksum:i0AB81C87F116497F
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti648 – 6481M → T in BAG53059. (PubMed:14702039)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti39 – 391G → V.
    Corresponds to variant rs34436714 [ dbSNP | Ensembl ].
    VAR_053620
    Natural varianti402 – 4021F → L.
    Corresponds to variant rs34971363 [ dbSNP | Ensembl ].
    VAR_053621

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 717717Missing in isoform 5. 1 PublicationVSP_016908Add
    BLAST
    Alternative sequencei691 – 6911L → LR in isoform 7. 1 PublicationVSP_055193
    Alternative sequencei718 – 74831LSLYR…LQNLR → MSQAWWHTSVSPATQEAKAG GLLQPRRQRLW in isoform 5. 1 PublicationVSP_016909Add
    BLAST
    Alternative sequencei862 – 1031170Missing in isoform 4. 1 PublicationVSP_009879Add
    BLAST
    Alternative sequencei862 – 973112Missing in isoform 3. 1 PublicationVSP_005523Add
    BLAST
    Alternative sequencei920 – 97657Missing in isoform 6. 1 PublicationVSP_054622Add
    BLAST
    Alternative sequencei921 – 97757Missing in isoform 5. 1 PublicationVSP_016910Add
    BLAST
    Alternative sequencei976 – 103156Missing in isoform 2. 1 PublicationVSP_005524Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY095146 mRNA. Translation: AAM18227.1.
    AY154467 mRNA. Translation: AAO18163.1.
    AY116204 mRNA. Translation: AAM75142.1.
    AY116205 mRNA. Translation: AAM75143.1.
    AY116206 mRNA. Translation: AAM75144.1.
    AY116207 mRNA. Translation: AAM75145.1.
    AF231021 mRNA. Translation: AAK14942.1.
    AK095460 mRNA. Translation: BAG53059.1.
    AC008753 Genomic DNA. No translation available.
    CH471135 Genomic DNA. Translation: EAW72152.1.
    BC028069 mRNA. Translation: AAH28069.1.
    CCDSiCCDS12864.1. [P59046-1]
    CCDS62784.1. [P59046-6]
    CCDS62785.1. [P59046-7]
    RefSeqiNP_001264055.1. NM_001277126.1.
    NP_001264058.1. NM_001277129.1. [P59046-6]
    NP_653288.1. NM_144687.3. [P59046-1]
    UniGeneiHs.631573.

    Genome annotation databases

    EnsembliENST00000324134; ENSP00000319377; ENSG00000142405. [P59046-1]
    ENST00000345770; ENSP00000341428; ENSG00000142405.
    ENST00000391772; ENSP00000375652; ENSG00000142405.
    ENST00000391773; ENSP00000375653; ENSG00000142405. [P59046-7]
    ENST00000391775; ENSP00000375655; ENSG00000142405. [P59046-6]
    GeneIDi91662.
    KEGGihsa:91662.
    UCSCiuc002qch.5. human. [P59046-1]
    uc002qci.5. human.
    uc010eqw.4. human. [P59046-5]

    Polymorphism databases

    DMDMi34223733.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY095146 mRNA. Translation: AAM18227.1 .
    AY154467 mRNA. Translation: AAO18163.1 .
    AY116204 mRNA. Translation: AAM75142.1 .
    AY116205 mRNA. Translation: AAM75143.1 .
    AY116206 mRNA. Translation: AAM75144.1 .
    AY116207 mRNA. Translation: AAM75145.1 .
    AF231021 mRNA. Translation: AAK14942.1 .
    AK095460 mRNA. Translation: BAG53059.1 .
    AC008753 Genomic DNA. No translation available.
    CH471135 Genomic DNA. Translation: EAW72152.1 .
    BC028069 mRNA. Translation: AAH28069.1 .
    CCDSi CCDS12864.1. [P59046-1 ]
    CCDS62784.1. [P59046-6 ]
    CCDS62785.1. [P59046-7 ]
    RefSeqi NP_001264055.1. NM_001277126.1.
    NP_001264058.1. NM_001277129.1. [P59046-6 ]
    NP_653288.1. NM_144687.3. [P59046-1 ]
    UniGenei Hs.631573.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    2L6A NMR - A 1-98 [» ]
    ProteinModelPortali P59046.
    SMRi P59046. Positions 1-98, 208-233, 633-1059.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 124861. 6 interactions.
    IntActi P59046. 24 interactions.
    MINTi MINT-237788.
    STRINGi 9606.ENSP00000319377.

    PTM databases

    PhosphoSitei P59046.

    Polymorphism databases

    DMDMi 34223733.

    Proteomic databases

    PaxDbi P59046.
    PRIDEi P59046.

    Protocols and materials databases

    DNASUi 91662.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000324134 ; ENSP00000319377 ; ENSG00000142405 . [P59046-1 ]
    ENST00000345770 ; ENSP00000341428 ; ENSG00000142405 .
    ENST00000391772 ; ENSP00000375652 ; ENSG00000142405 .
    ENST00000391773 ; ENSP00000375653 ; ENSG00000142405 . [P59046-7 ]
    ENST00000391775 ; ENSP00000375655 ; ENSG00000142405 . [P59046-6 ]
    GeneIDi 91662.
    KEGGi hsa:91662.
    UCSCi uc002qch.5. human. [P59046-1 ]
    uc002qci.5. human.
    uc010eqw.4. human. [P59046-5 ]

    Organism-specific databases

    CTDi 91662.
    GeneCardsi GC19M054296.
    HGNCi HGNC:22938. NLRP12.
    HPAi HPA042981.
    MIMi 609648. gene.
    611762. phenotype.
    neXtProti NX_P59046.
    Orphaneti 247868. NLRP12-associated hereditary periodic fever syndrome.
    PharmGKBi PA162397866.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG82860.
    HOGENOMi HOG000294064.
    HOVERGENi HBG063656.
    OrthoDBi EOG7P5T07.
    PhylomeDBi P59046.
    TreeFami TF340267.

    Miscellaneous databases

    EvolutionaryTracei P59046.
    GeneWikii NLRP12.
    GenomeRNAii 91662.
    NextBioi 35464860.
    PROi P59046.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P59046.
    Bgeei P59046.
    CleanExi HS_NLRP12.
    Genevestigatori P59046.

    Family and domain databases

    Gene3Di 1.10.533.10. 1 hit.
    InterProi IPR004020. DAPIN.
    IPR011029. DEATH-like_dom.
    IPR001611. Leu-rich_rpt.
    IPR007111. NACHT_NTPase.
    IPR029495. NATCH-assoc.
    IPR027417. P-loop_NTPase.
    [Graphical view ]
    Pfami PF14484. FISNA. 1 hit.
    PF02758. PYRIN. 1 hit.
    [Graphical view ]
    SUPFAMi SSF47986. SSF47986. 1 hit.
    SSF52540. SSF52540. 1 hit.
    PROSITEi PS50824. DAPIN. 1 hit.
    PS51450. LRR. 5 hits.
    PS50837. NACHT. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "PYPAF7, a novel PYRIN-containing Apaf1-like protein that regulates activation of NF-kappa B and caspase-1-dependent cytokine processing."
      Wang L., Manji G.A., Grenier J.M., Al-Garawi A., Merriam S., Lora J.M., Geddes B.J., Briskin M., DiStefano P.S., Bertin J.
      J. Biol. Chem. 277:29874-29880(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    2. "NALPs: a novel protein family involved in inflammation."
      Tschopp J., Martinon F., Burns K.
      Nat. Rev. Mol. Cell Biol. 4:95-104(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    3. Williams K.L., Linhoff M.W., Harton J.A., Ting J.P.Y.
      Submitted (MAY-2002) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2; 3; 4 AND 7).
      Tissue: Lymphoma.
    4. "Identification and characterization of a novel gene that is upregulated in leukaemia cells by nitric oxide."
      Shami P.J., Kanai N., Wang L.Y., Vreeke T.M., Parker C.J.
      Br. J. Haematol. 112:138-147(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 5), TISSUE SPECIFICITY, ALTERNATIVE SPLICING, INDUCTION.
      Tissue: Peripheral blood leukocyte.
    5. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 6).
    6. "The DNA sequence and biology of human chromosome 19."
      Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S., Carrano A.V.
      , Caoile C., Chan Y.M., Christensen M., Cleland C.A., Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M., Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V., Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D., McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I., Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L., Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J., Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E., Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M., Rubin E.M., Lucas S.M.
      Nature 428:529-535(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    7. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    8. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      Tissue: Leukocyte.
    9. "ATP binding by monarch-1/NLRP12 is critical for its inhibitory function."
      Ye Z., Lich J.D., Moore C.B., Duncan J.A., Williams K.L., Ting J.P.
      Mol. Cell. Biol. 28:1841-1850(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: ATP-BINDING.
    10. Cited for: INVOLVEMENT IN FCAS2.
    11. "The NLRP12 pyrin domain: structure, dynamics, and functional insights."
      Pinheiro A.S., Eibl C., Ekman-Vural Z., Schwarzenbacher R., Peti W.
      J. Mol. Biol. 413:790-803(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: STRUCTURE BY NMR OF 1-98, INTERACTION WITH FAF1.

    Entry informationi

    Entry nameiNAL12_HUMAN
    AccessioniPrimary (citable) accession number: P59046
    Secondary accession number(s): A8MTQ2
    , B3KTE7, Q8NEU4, Q9BY26
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: October 19, 2002
    Last sequence update: August 22, 2003
    Last modified: October 1, 2014
    This is version 122 of the entry and version 2 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    3D-structure, Complete proteome, Reference proteome

    Documents

    1. Human chromosome 19
      Human chromosome 19: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3