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Q8WX94

- NALP7_HUMAN

UniProt

Q8WX94 - NALP7_HUMAN

Protein

NACHT, LRR and PYD domains-containing protein 7

Gene

NLRP7

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 114 (01 Oct 2014)
      Sequence version 1 (01 Mar 2002)
      Previous versions | rss
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    Functioni

    Inhibits CASP1/caspase-1-dependent IL1B secretion.1 Publication

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Nucleotide bindingi178 – 1858ATPPROSITE-ProRule annotation

    GO - Molecular functioni

    1. ATP binding Source: UniProtKB-KW

    Keywords - Ligandi

    ATP-binding, Nucleotide-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    NACHT, LRR and PYD domains-containing protein 7
    Alternative name(s):
    Nucleotide-binding oligomerization domain protein 12
    PYRIN-containing APAF1-like protein 3
    Gene namesi
    Name:NLRP7
    Synonyms:NALP7, NOD12, PYPAF3
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 19

    Organism-specific databases

    HGNCiHGNC:22947. NLRP7.

    Pathology & Biotechi

    Involvement in diseasei

    Hydatidiform mole, recurrent, 1 (HYDM1) [MIM:231090]: A disorder characterized by excessive trophoblast development that produces a growing mass of tissue inside the uterus at the beginning of a pregnancy. It leads to abnormal pregnancies with no embryo, and cystic degeneration of the chorionic villi.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti398 – 3981L → R in HYDM1. 1 Publication
    VAR_059035
    Natural varianti651 – 6511P → S in HYDM1. 1 Publication
    VAR_059036
    Natural varianti693 – 6931R → P in HYDM1. 2 Publications
    VAR_026711
    Natural varianti693 – 6931R → Q in HYDM1. 1 Publication
    VAR_059037
    Natural varianti693 – 6931R → W in HYDM1. 2 Publications
    VAR_026712
    Natural varianti716 – 7161P → A in HYDM1. 1 Publication
    VAR_059038
    Natural varianti721 – 7211R → W in HYDM1. 1 Publication
    VAR_059039
    Natural varianti761 – 7611C → Y in HYDM1. 1 Publication
    VAR_059040
    Natural varianti913 – 9131N → S in HYDM1. 2 Publications
    Corresponds to variant rs104895503 [ dbSNP | Ensembl ].
    VAR_026713

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi231090. phenotype.
    Orphaneti254688. Complete hydatidiform mole.
    254693. Partial hydatidiform mole.
    PharmGKBiPA162398003.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 980980NACHT, LRR and PYD domains-containing protein 7PRO_0000080895Add
    BLAST

    Proteomic databases

    MaxQBiQ8WX94.
    PaxDbiQ8WX94.
    PRIDEiQ8WX94.

    PTM databases

    PhosphoSiteiQ8WX94.

    Expressioni

    Tissue specificityi

    Expressed in numerous tissues including uterus and ovary, with low levels in heart and brain. Not detected in skeletal muscle.2 Publications

    Inductioni

    By bacterial lipopolysaccharides (LPS) and IL1B/interleukin-1 beta in peripheral blood mononuclear cells.

    Gene expression databases

    ArrayExpressiQ8WX94.
    BgeeiQ8WX94.
    CleanExiHS_NLRP7.
    GenevestigatoriQ8WX94.

    Organism-specific databases

    HPAiHPA051382.

    Interactioni

    Subunit structurei

    Directly interacts with CASP1 and IL1B.1 Publication

    Protein-protein interaction databases

    BioGridi128265. 2 interactions.
    STRINGi9606.ENSP00000329568.

    Structurei

    Secondary structure

    1
    980
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Helixi4 – 1613
    Helixi21 – 299
    Helixi38 – 403
    Helixi43 – 486
    Helixi52 – 6110
    Helixi64 – 7714
    Helixi84 – 874
    Turni88 – 914

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    2KM6NMR-A1-96[»]
    ProteinModelPortaliQ8WX94.
    SMRiQ8WX94. Positions 1-96, 603-968.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiQ8WX94.

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini1 – 9393DAPINPROSITE-ProRule annotationAdd
    BLAST
    Domaini172 – 491320NACHTPROSITE-ProRule annotationAdd
    BLAST
    Repeati614 – 63825LRR 1Add
    BLAST
    Repeati674 – 69724LRR 2Add
    BLAST
    Repeati760 – 78425LRR 3Add
    BLAST
    Repeati788 – 81023LRR 4Add
    BLAST
    Repeati817 – 84024LRR 5Add
    BLAST
    Repeati845 – 86824LRR 6Add
    BLAST
    Repeati874 – 89724LRR 7Add
    BLAST
    Repeati902 – 92827LRR 8Add
    BLAST
    Repeati933 – 95725LRR 9Add
    BLAST

    Sequence similaritiesi

    Belongs to the NLRP family.Curated
    Contains 1 DAPIN domain.PROSITE-ProRule annotation
    Contains 9 LRR (leucine-rich) repeats.Curated
    Contains 1 NACHT domain.PROSITE-ProRule annotation

    Keywords - Domaini

    Leucine-rich repeat, Repeat

    Phylogenomic databases

    eggNOGiNOG146691.
    HOGENOMiHOG000294064.
    HOVERGENiHBG103856.
    PhylomeDBiQ8WX94.

    Family and domain databases

    Gene3Di1.10.533.10. 1 hit.
    3.40.50.300. 1 hit.
    InterProiIPR004020. DAPIN.
    IPR011029. DEATH-like_dom.
    IPR007111. NACHT_NTPase.
    IPR027417. P-loop_NTPase.
    [Graphical view]
    PfamiPF02758. PYRIN. 1 hit.
    [Graphical view]
    SUPFAMiSSF47986. SSF47986. 1 hit.
    SSF52540. SSF52540. 2 hits.
    PROSITEiPS50824. DAPIN. 1 hit.
    PS50837. NACHT. 1 hit.
    [Graphical view]

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q8WX94-1) [UniParc]FASTAAdd to Basket

    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

    MTSPQLEWTL QTLLEQLNED ELKSFKSLLW AFPLEDVLQK TPWSEVEEAD    50
    GKKLAEILVN TSSENWIRNA TVNILEEMNL TELCKMAKAE MMEDGQVQEI 100
    DNPELGDAEE DSELAKPGEK EGWRNSMEKQ SLVWKNTFWQ GDIDNFHDDV 150
    TLRNQRFIPF LNPRTPRKLT PYTVVLHGPA GVGKTTLAKK CMLDWTDCNL 200
    SPTLRYAFYL SCKELSRMGP CSFAELISKD WPELQDDIPS ILAQAQRILF 250
    VVDGLDELKV PPGALIQDIC GDWEKKKPVP VLLGSLLKRK MLPRAALLVT 300
    TRPRALRDLQ LLAQQPIYVR VEGFLEEDRR AYFLRHFGDE DQAMRAFELM 350
    RSNAALFQLG SAPAVCWIVC TTLKLQMEKG EDPVPTCLTR TGLFLRFLCS 400
    RFPQGAQLRG ALRTLSLLAA QGLWAQMSVF HREDLERLGV QESDLRLFLD 450
    GDILRQDRVS KGCYSFIHLS FQQFLTALFY ALEKEEGEDR DGHAWDIGDV 500
    QKLLSGEERL KNPDLIQVGH FLFGLANEKR AKELEATFGC RMSPDIKQEL 550
    LQCKAHLHAN KPLSVTDLKE VLGCLYESQE EELAKVVVAP FKEISIHLTN 600
    TSEVMHCSFS LKHCQDLQKL SLQVAKGVFL ENYMDFELDI EFERCTYLTI 650
    PNWARQDLRS LRLWTDFCSL FSSNSNLKFL EVKQSFLSDS SVRILCDHVT 700
    RSTCHLQKVE IKNVTPDTAY RDFCLAFIGK KTLTHLTLAG HIEWERTMML 750
    MLCDLLRNHK CNLQYLRLGG HCATPEQWAE FFYVLKANQS LKHLRLSANV 800
    LLDEGAMLLY KTMTRPKHFL QMLSLENCRL TEASCKDLAA VLVVSKKLTH 850
    LCLAKNPIGD TGVKFLCEGL SYPDCKLQTL VLQQCSITKL GCRYLSEALQ 900
    EACSLTNLDL SINQIARGLW ILCQALENPN CNLKHLRLKT YETNLEIKKL 950
    LEEVKEKNPK LTIDCNASGA TAPPCCDFFC 980
    Length:980
    Mass (Da):111,807
    Last modified:March 1, 2002 - v1
    Checksum:i822AF2FD4338003D
    GO
    Isoform 2 (identifier: Q8WX94-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         644-671: Missing.
         938-938: L → LWSCSLMPFYCQHLGSALLSNQKLETLDLGQNHLWKSGIIKLFGVLRQRTGSLKILRL

    Note: No experimental confirmation available.

    Show »
    Length:1,009
    Mass (Da):114,845
    Checksum:iEB76450B0C05AE24
    GO
    Isoform 3 (identifier: Q8WX94-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         938-938: L → LWSCSLMPFYCQHLGSALLSNQKLETLDLGQNHLWKSGIIKLFGVLRQRTGSLKILRL

    Note: No experimental confirmation available.

    Show »
    Length:1,037
    Mass (Da):118,303
    Checksum:iBB5642CADF5DA666
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti310 – 3112QL → RI in AAI09126. (PubMed:15489334)Curated
    Sequence conflicti481 – 4811A → T in AAI09126. (PubMed:15489334)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti319 – 3191V → I.
    Corresponds to variant rs775882 [ dbSNP | Ensembl ].
    VAR_026710
    Natural varianti398 – 3981L → R in HYDM1. 1 Publication
    VAR_059035
    Natural varianti487 – 4871G → E.
    Corresponds to variant rs775881 [ dbSNP | Ensembl ].
    VAR_060103
    Natural varianti651 – 6511P → S in HYDM1. 1 Publication
    VAR_059036
    Natural varianti693 – 6931R → P in HYDM1. 2 Publications
    VAR_026711
    Natural varianti693 – 6931R → Q in HYDM1. 1 Publication
    VAR_059037
    Natural varianti693 – 6931R → W in HYDM1. 2 Publications
    VAR_026712
    Natural varianti716 – 7161P → A in HYDM1. 1 Publication
    VAR_059038
    Natural varianti721 – 7211R → W in HYDM1. 1 Publication
    VAR_059039
    Natural varianti761 – 7611C → Y in HYDM1. 1 Publication
    VAR_059040
    Natural varianti913 – 9131N → S in HYDM1. 2 Publications
    Corresponds to variant rs104895503 [ dbSNP | Ensembl ].
    VAR_026713
    Natural varianti971 – 9711T → A.
    Corresponds to variant rs7256020 [ dbSNP | Ensembl ].
    VAR_026714

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei644 – 67128Missing in isoform 2. CuratedVSP_016906Add
    BLAST
    Alternative sequencei938 – 9381L → LWSCSLMPFYCQHLGSALLS NQKLETLDLGQNHLWKSGII KLFGVLRQRTGSLKILRL in isoform 2 and isoform 3. 1 PublicationVSP_016907

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF464765 mRNA. Translation: AAL69963.1.
    AY154462 mRNA. Translation: AAO18158.1.
    AC011476 Genomic DNA. No translation available.
    BC109125 mRNA. Translation: AAI09126.1.
    BK001113 mRNA. Translation: DAA01246.1.
    CCDSiCCDS12912.1. [Q8WX94-2]
    CCDS33109.1. [Q8WX94-1]
    CCDS46183.1. [Q8WX94-3]
    RefSeqiNP_001120727.1. NM_001127255.1. [Q8WX94-3]
    NP_631915.2. NM_139176.3. [Q8WX94-2]
    NP_996611.2. NM_206828.3. [Q8WX94-1]
    XP_006723138.1. XM_006723075.1. [Q8WX94-3]
    XP_006723139.1. XM_006723076.1. [Q8WX94-3]
    XP_006725700.1. XM_006725637.1. [Q8WX94-3]
    XP_006725701.1. XM_006725638.1. [Q8WX94-3]
    XP_006725703.1. XM_006725640.1. [Q8WX94-1]
    XP_006725827.1. XM_006725764.1. [Q8WX94-3]
    XP_006725828.1. XM_006725765.1. [Q8WX94-3]
    XP_006725928.1. XM_006725865.1. [Q8WX94-3]
    XP_006725929.1. XM_006725866.1. [Q8WX94-3]
    XP_006726016.1. XM_006725953.1. [Q8WX94-3]
    XP_006726017.1. XM_006725954.1. [Q8WX94-3]
    XP_006726115.1. XM_006726052.1. [Q8WX94-3]
    XP_006726116.1. XM_006726053.1. [Q8WX94-3]
    XP_006726213.1. XM_006726150.1. [Q8WX94-3]
    XP_006726214.1. XM_006726151.1. [Q8WX94-3]
    XP_006726253.1. XM_006726190.1. [Q8WX94-3]
    XP_006726254.1. XM_006726191.1. [Q8WX94-3]
    XP_006726333.1. XM_006726270.1. [Q8WX94-3]
    XP_006726334.1. XM_006726271.1. [Q8WX94-3]
    UniGeneiHs.351118.

    Genome annotation databases

    EnsembliENST00000328092; ENSP00000329568; ENSG00000167634. [Q8WX94-2]
    ENST00000340844; ENSP00000339491; ENSG00000167634. [Q8WX94-1]
    ENST00000588756; ENSP00000467123; ENSG00000167634. [Q8WX94-3]
    ENST00000590030; ENSP00000465520; ENSG00000167634. [Q8WX94-1]
    ENST00000592784; ENSP00000468706; ENSG00000167634. [Q8WX94-3]
    GeneIDi199713.
    KEGGihsa:199713.
    UCSCiuc002qig.4. human. [Q8WX94-2]
    uc002qih.4. human. [Q8WX94-1]
    uc002qii.4. human. [Q8WX94-3]

    Polymorphism databases

    DMDMi24212128.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Web resourcesi

    INFEVERS

    Repertory of FMF and hereditary autoinflammatory disorders mutations

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF464765 mRNA. Translation: AAL69963.1 .
    AY154462 mRNA. Translation: AAO18158.1 .
    AC011476 Genomic DNA. No translation available.
    BC109125 mRNA. Translation: AAI09126.1 .
    BK001113 mRNA. Translation: DAA01246.1 .
    CCDSi CCDS12912.1. [Q8WX94-2 ]
    CCDS33109.1. [Q8WX94-1 ]
    CCDS46183.1. [Q8WX94-3 ]
    RefSeqi NP_001120727.1. NM_001127255.1. [Q8WX94-3 ]
    NP_631915.2. NM_139176.3. [Q8WX94-2 ]
    NP_996611.2. NM_206828.3. [Q8WX94-1 ]
    XP_006723138.1. XM_006723075.1. [Q8WX94-3 ]
    XP_006723139.1. XM_006723076.1. [Q8WX94-3 ]
    XP_006725700.1. XM_006725637.1. [Q8WX94-3 ]
    XP_006725701.1. XM_006725638.1. [Q8WX94-3 ]
    XP_006725703.1. XM_006725640.1. [Q8WX94-1 ]
    XP_006725827.1. XM_006725764.1. [Q8WX94-3 ]
    XP_006725828.1. XM_006725765.1. [Q8WX94-3 ]
    XP_006725928.1. XM_006725865.1. [Q8WX94-3 ]
    XP_006725929.1. XM_006725866.1. [Q8WX94-3 ]
    XP_006726016.1. XM_006725953.1. [Q8WX94-3 ]
    XP_006726017.1. XM_006725954.1. [Q8WX94-3 ]
    XP_006726115.1. XM_006726052.1. [Q8WX94-3 ]
    XP_006726116.1. XM_006726053.1. [Q8WX94-3 ]
    XP_006726213.1. XM_006726150.1. [Q8WX94-3 ]
    XP_006726214.1. XM_006726151.1. [Q8WX94-3 ]
    XP_006726253.1. XM_006726190.1. [Q8WX94-3 ]
    XP_006726254.1. XM_006726191.1. [Q8WX94-3 ]
    XP_006726333.1. XM_006726270.1. [Q8WX94-3 ]
    XP_006726334.1. XM_006726271.1. [Q8WX94-3 ]
    UniGenei Hs.351118.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    2KM6 NMR - A 1-96 [» ]
    ProteinModelPortali Q8WX94.
    SMRi Q8WX94. Positions 1-96, 603-968.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 128265. 2 interactions.
    STRINGi 9606.ENSP00000329568.

    PTM databases

    PhosphoSitei Q8WX94.

    Polymorphism databases

    DMDMi 24212128.

    Proteomic databases

    MaxQBi Q8WX94.
    PaxDbi Q8WX94.
    PRIDEi Q8WX94.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000328092 ; ENSP00000329568 ; ENSG00000167634 . [Q8WX94-2 ]
    ENST00000340844 ; ENSP00000339491 ; ENSG00000167634 . [Q8WX94-1 ]
    ENST00000588756 ; ENSP00000467123 ; ENSG00000167634 . [Q8WX94-3 ]
    ENST00000590030 ; ENSP00000465520 ; ENSG00000167634 . [Q8WX94-1 ]
    ENST00000592784 ; ENSP00000468706 ; ENSG00000167634 . [Q8WX94-3 ]
    GeneIDi 199713.
    KEGGi hsa:199713.
    UCSCi uc002qig.4. human. [Q8WX94-2 ]
    uc002qih.4. human. [Q8WX94-1 ]
    uc002qii.4. human. [Q8WX94-3 ]

    Organism-specific databases

    CTDi 199713.
    GeneCardsi GC19M055434.
    HGNCi HGNC:22947. NLRP7.
    HPAi HPA051382.
    MIMi 231090. phenotype.
    609661. gene.
    neXtProti NX_Q8WX94.
    Orphaneti 254688. Complete hydatidiform mole.
    254693. Partial hydatidiform mole.
    PharmGKBi PA162398003.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG146691.
    HOGENOMi HOG000294064.
    HOVERGENi HBG103856.
    PhylomeDBi Q8WX94.

    Miscellaneous databases

    ChiTaRSi NLRP7. human.
    EvolutionaryTracei Q8WX94.
    GeneWikii NLRP7.
    GenomeRNAii 199713.
    NextBioi 89703.
    PROi Q8WX94.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q8WX94.
    Bgeei Q8WX94.
    CleanExi HS_NLRP7.
    Genevestigatori Q8WX94.

    Family and domain databases

    Gene3Di 1.10.533.10. 1 hit.
    3.40.50.300. 1 hit.
    InterProi IPR004020. DAPIN.
    IPR011029. DEATH-like_dom.
    IPR007111. NACHT_NTPase.
    IPR027417. P-loop_NTPase.
    [Graphical view ]
    Pfami PF02758. PYRIN. 1 hit.
    [Graphical view ]
    SUPFAMi SSF47986. SSF47986. 1 hit.
    SSF52540. SSF52540. 2 hits.
    PROSITEi PS50824. DAPIN. 1 hit.
    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. "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].
    4. "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 3).
    5. "NODs: intracellular proteins involved in inflammation and apoptosis."
      Inohara N., Nunez G.
      Nat. Rev. Immunol. 3:371-382(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION (ISOFORM 2).
    6. "PYPAF3, a PYRIN-containing APAF-1-like protein, is a feedback regulator of caspase-1-dependent interleukin-1beta secretion."
      Kinoshita T., Wang Y., Hasegawa M., Imamura R., Suda T.
      J. Biol. Chem. 280:21720-21725(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, INTERACTION WITH CASP1 AND IL1B, TISSUE SPECIFICITY.
    7. "Three-dimensional structure of the NLRP7 pyrin domain: insight into pyrin-pyrin-mediated effector domain signaling in innate immunity."
      Pinheiro A.S., Proell M., Eibl C., Page R., Schwarzenbacher R., Peti W.
      J. Biol. Chem. 285:27402-27410(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: STRUCTURE BY NMR OF 1-96.
    8. "Mutations in NALP7 cause recurrent hydatidiform moles and reproductive wastage in humans."
      Murdoch S., Djuric U., Mazhar B., Seoud M., Khan R., Kuick R., Bagga R., Kircheisen R., Ao A., Ratti B., Hanash S., Rouleau G.A., Slim R.
      Nat. Genet. 38:300-302(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS HYDM1 TRP-693; PRO-693 AND SER-913, TISSUE SPECIFICITY.
    9. "Identification of 13 novel NLRP7 mutations in 20 families with recurrent hydatidiform mole; missense mutations cluster in the leucine-rich region."
      Wang C.M., Dixon P.H., Decordova S., Hodges M.D., Sebire N.J., Ozalp S., Fallahian M., Sensi A., Ashrafi F., Repiska V., Zhao J., Xiang Y., Savage P.M., Seckl M.J., Fisher R.A.
      J. Med. Genet. 46:569-575(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS HYDM1 ARG-398; SER-651; TRP-693; PRO-693; GLN-693; ALA-716; TRP-721; TYR-761 AND SER-913.

    Entry informationi

    Entry nameiNALP7_HUMAN
    AccessioniPrimary (citable) accession number: Q8WX94
    Secondary accession number(s): E9PE16, Q32MH8, Q7RTR1
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: October 19, 2002
    Last sequence update: March 1, 2002
    Last modified: October 1, 2014
    This is version 114 of the entry and version 1 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