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NLRP1 Gene

protein-coding   GIFtS: 62
GCID: GC17M005407

NLR Family, Pyrin Domain Containing 1

(Previous names: NACHT, leucine rich repeat and PYD (pyrin domain) containing...)
(Previous symbols: NALP1, SLEV1)
  See NLRP1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
NLR Family, Pyrin Domain Containing 11 2     KIAA09263 5
NALP11 2 3 5     Leucine Rich Repeat And Pyrin Domain Containing 11
SLEV11 2 5     Nucleotide-Binding Oligomerization Domain1
CARD72 3 5     Systemic Lupus Erythematosus, Vitiligo-Related 11
DEFCAP2 3 5     CLR17.12
NACHT, Leucine Rich Repeat And PYD (Pyrin Domain) Containing 11 2     DEFCAP-L/S2
Caspase Recruitment Domain-Containing Protein 72 3     PP10442
Death Effector Filament-Forming Ced-4-Like Apoptosis Protein2 3     Caspase Recruitment Domain Protein 72
Nucleotide-Binding Domain And Caspase Recruitment Domain2 3     NACHT, Leucine Rich Repeat And PYD Containing 12
NAC2 3     NACHT, LRR And PYD Containing Protein 12
CIDED2 5     NACHT, LRR And PYD Domains-Containing Protein 12
VAMAS12 5     Nucleotide-Binding Oligomerization Domain, Leucine Rich Repeat And Pyrin
Domain Containing 12

External Ids:    HGNC: 143741   Entrez Gene: 228612   Ensembl: ENSG000000915927   OMIM: 6066365   UniProtKB: Q9C0003   

Export aliases for NLRP1 gene to outside databases

Previous GC identifers: GC17M005351 GC17M005354 GC17M005357 GC17M005294


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for NLRP1 Gene:
This gene encodes a member of the Ced-4 family of apoptosis proteins. Ced-family members contain a caspase
recruitment domain (CARD) and are known to be key mediators of programmed cell death. The encoded protein
contains a distinct N-terminal pyrin-like motif, which is possibly involved in protein-protein interactions. This
protein interacts strongly with caspase 2 and weakly with caspase 9. Overexpression of this gene was demonstrated
to induce apoptosis in cells. Multiple alternatively spliced transcript variants encoding distinct isoforms have
been found for this gene, but the biological validity of some variants has not been determined. (provided by
RefSeq, Jul 2008)

GeneCards Summary for NLRP1 Gene:
NLRP1 (NLR family, pyrin domain containing 1) is a protein-coding gene. Diseases associated with NLRP1 include corneal intraepithelial dyskeratosis and ectodermal dysplasia, and vitiligo. GO annotations related to this gene include cysteine-type endopeptidase activator activity involved in apoptotic process and enzyme binding. An important paralog of this gene is NLRC5.

UniProtKB/Swiss-Prot: NALP1_HUMAN, Q9C000
Function: Able to form cytoplasmic structures termed death effector filaments. Enhances APAF1 and cytochrome
c-dependent activation of pro-caspase-9 and consecutive apoptosis. Stimulates apoptosis through activation of
caspase-3. Involved in activation of caspase-1 and caspase-5 as part of the NALP1 inflammasome complex which
leads to processing and release of IL1B and IL18. Binds ATP

Gene Wiki entry for NLRP1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000017.10  NC_018928.2  NT_010718.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the NLRP1 gene promoter:
         NRSF form 1   NRSF form 2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): NLRP1 promoter sequence
   Search Chromatin IP Primers for NLRP1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat NLRP1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 17p13.2   Ensembl cytogenetic band:  17p13.2   HGNC cytogenetic band: 17p13

NLRP1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NLRP1 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M005407:  view genomic region     (about GC identifiers)

Start:
5,402,747 bp from pter      End:
5,522,744 bp from pter
Size:
119,998 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: NALP1_HUMAN, Q9C000 (See protein sequence)
Recommended Name: NACHT, LRR and PYD domains-containing protein 1  
Size: 1473 amino acids; 165866 Da
Subunit: Interacts strongly with caspase-2, weakly with caspase-9 and with APAF1 in a cytochrome c-inducible way,
leading to the formation of an apoptosome. This interaction may be ATP-dependent. Part of the NALP1 inflammasome
complex which is involved in activation of caspase-1 and caspase-5, leading to processing of IL1B and IL18. The
complex is activated by bacterial muramyl dipeptide which triggers ATP-binding and oligomerization of NALP1.
Interacts with EIF2AK2/PKR and MEFV
Sequence caution: Sequence=BAA76770.2; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Sequence=BAB15469.1; Type=Frameshift; Positions=1241;
4 PDB 3D structures from and Proteopedia for NLRP1:
1PN5 (3D)        3KAT (3D)        4IFP (3D)        4IM6 (3D)    
Secondary accessions: E9PE50 I6L9D9 Q9BZZ8 Q9BZZ9 Q9H5Z7 Q9H5Z8 Q9HAV8 Q9UFT4 Q9Y2E0
Alternative splicing: 7 isoforms:  Q9C000-1   Q9C000-2   Q9C000-3   Q9C000-4   Q9C000-5   Q9C000-6   Q9C000-7   

Explore the universe of human proteins at neXtProt for NLRP1: NX_Q9C000

Explore proteomics data for NLRP1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See NLRP1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (5 alternative transcripts): 
    NP_001028225.1  NP_055737.1  NP_127497.1  NP_127499.1  NP_127500.1  

    ENSEMBL proteins: 
     ENSP00000442029   ENSP00000262467   ENSP00000459661   ENSP00000269280   ENSP00000460475  
     ENSP00000346390   ENSP00000460216   ENSP00000458303   ENSP00000324366  
    Reactome Protein details: Q9C000

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    NLR: Nucleotide-binding domain and leucine rich repeat containing

    IUPHAR Guide to PHARMACOLOGY protein family classification: NLRP1
    NOD-like receptor family

    Selected InterPro protein domains (see all 8):
     IPR001611 Leu-rich_rpt
     IPR011029 DEATH-like_dom
     IPR000767 Disease_R
     IPR007111 NACHT_NTPase
     IPR027417 P-loop_NTPase

    Graphical View of Domain Structure for InterPro Entry Q9C000

    ProtoNet protein and cluster: Q9C000

    3 Blocks protein domains:
    IPB000767 Disease resistance protein signature
    IPB001315 CARD interaction domain
    IPB004020 Pyrin domain


    UniProtKB/Swiss-Prot: NALP1_HUMAN, Q9C000
    Similarity: Belongs to the NLRP family
    Similarity: Contains 1 CARD domain
    Similarity: Contains 1 DAPIN domain
    Similarity: Contains 6 LRR (leucine-rich) repeats
    Similarity: Contains 1 NACHT domain


    Find genes that share domains with NLRP1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: NALP1_HUMAN, Q9C000
    Function: Able to form cytoplasmic structures termed death effector filaments. Enhances APAF1 and cytochrome
    c-dependent activation of pro-caspase-9 and consecutive apoptosis. Stimulates apoptosis through activation of
    caspase-3. Involved in activation of caspase-1 and caspase-5 as part of the NALP1 inflammasome complex which
    leads to processing and release of IL1B and IL18. Binds ATP

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI11472070
    GO:0005524ATP binding IDA15212762
    GO:0008656cysteine-type endopeptidase activator activity involved in apoptotic process NAS11076957
    GO:0019899enzyme binding IPI11076957
    GO:0019904protein domain specific binding IPI16575408
         
    Find genes that share ontologies with NLRP1           About GenesLikeMe


    Phenotypes:
         11 MGI mutant phenotypes (inferred from 1 allele(MGI details for Nlrp1a):
     cardiovascular system  endocrine/exocrine gland  hematopoietic system  homeostasis/metabolism  immune system 
     integument  liver/biliary system  mortality/aging  nervous system  reproductive system 
     respiratory system 

    Find genes that share phenotypes with NLRP1           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for NLRP1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for NLRP1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for NLRP1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for NLRP1

    miRNA
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    miRTarBase miRNAs that target NLRP1:
    hsa-mir-335-5p (MIRT017810)

    Block miRNA regulation of human, mouse, rat NLRP1 using miScript Target Protectors
    2 qRT-PCR Assays for microRNAs that regulate NLRP1:
    hsa-miR-645 hsa-miR-143
    SwitchGear 3'UTR luciferase reporter plasmidNLRP1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat NLRP1

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    Browse Sino Biological Human cDNA Clones
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    NALP1_HUMAN, Q9C000: Cytoplasm. Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol4
    extracellular1
    golgi apparatus1
    lysosome1
    mitochondrion1
    peroxisome1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular IC11076957
    GO:0005634nucleus IDA17164409
    GO:0005829cytosol TAS--
    GO:0072558NLRP1 inflammasome complex TAS--

    Find genes that share ontologies with NLRP1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for NLRP1 About    
    See pathways by source

    SuperPathContained pathways About
    1Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways
    Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways0.68
    Inflammasomes0.00
    NOD-like receptor signaling pathway0.37
    The NLRP1 inflammasome0.00
    NOD pathway0.33
    2NOD-like Receptor Signaling Pathways
    NOD-like Receptor Signaling Pathways0.58
    3NF-kappaB Signaling
    NF-kappaB Signaling
    4Cellular roles of Anthrax toxin
    Cellular roles of Anthrax toxin
    5Apoptosis and Autophagy
    Apoptosis and Autophagy


    Find genes that share SuperPaths with NLRP1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 R&D Systems Pathway for NLRP1
        NOD-like Receptor Signaling Pathways


    2 Cell Signaling Technology (CST) Pathways for NLRP1
        Apoptosis and Autophagy
    NF-kappaB Signaling

    2 BioSystems Pathways for NLRP1
        NOD pathway
    Cellular roles of Anthrax toxin

    1 Reactome Pathway for NLRP1
        The NLRP1 inflammasome


    1 Kegg Pathway  (Kegg details for NLRP1):
        NOD-like receptor signaling pathway

        Pathway & Disease-focused RT2 Profiler PCR Arrays including NLRP1: 
              Inflammasomes in human mouse rat
              Apoptosis 384HT in human mouse rat
              Antibacterial Response in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for NLRP1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 13)

    Selected Interacting proteins for NLRP1 (Q9C0001, 3 ENSP000002692804) via UniProtKB, MINT, STRING, and/or I2D (see all 16)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PYCARDQ9ULZ31, 3, ENSP000002474704EBI-1220518,EBI-751215 I2D: score=3 STRING: ENSP00000247470
    BCL2P104151, 3, ENSP000003296234EBI-1220518,EBI-77694 I2D: score=2 STRING: ENSP00000329623
    BCL2L1Q078171, 3, ENSP000003025644EBI-1220518,EBI-78035 I2D: score=2 STRING: ENSP00000302564
    CASP2P425753, ENSP000003126644I2D: score=3 STRING: ENSP00000312664
    APAF1O147273, ENSP000003530594I2D: score=2 STRING: ENSP00000353059
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006915apoptotic process NAS11076957
    GO:0006919activation of cysteine-type endopeptidase activity involved in apoptotic process NAS11076957
    GO:0006952defense response ----
    GO:0032495response to muramyl dipeptide ISS--
    GO:0035872nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway TAS--

    Find genes that share ontologies with NLRP1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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       Browse drugs & compounds from Enzo Life Sciences
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    Browse Tocris compounds for NLRP1 (NALP1)

    1 IUPHAR Ligand for NLRP1 (NLRP1)    About this table
    LigandTypeActionAffinityPubmed IDs
    muramyl dipeptide
    AgonistAgonist--



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for NLRP1 gene (5 alternative transcripts): 
    NM_001033053.2  NM_014922.4  NM_033004.3  NM_033006.3  NM_033007.3  

    Unigene Cluster for NLRP1:

    NLR family, pyrin domain containing 1
    Hs.652273  [show with all ESTs]
    Unigene Representative Sequence: NM_033004
    14 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000544378 ENST00000574406 ENST00000568641(uc010vtc.2) ENST00000262467(uc002gcg.1)
    ENST00000574512 ENST00000571451 ENST00000269280 ENST00000572272 ENST00000354411
    ENST00000577119 ENST00000571307(uc010clh.3) ENST00000576905 ENST00000572143
    ENST00000345221(uc002gci.3 uc002gch.4 uc002gck.3 uc002gcj.3 uc002gcl.3)

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    hsa-miR-645 hsa-miR-143
    SwitchGear 3'UTR luciferase reporter plasmidNLRP1 3' UTR sequence
    Inhib. RNA
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    Additional mRNA sequence: 

    AB023143.1 AF229059.1 AF229060.1 AF229061.1 AF229062.1 AF298548.1 AF310105.1 AK026393.1 
    AK026398.1 AK310936.1 AL117470.1 AL832400.1 BX538292.1 

    13 DOTS entries:

    DT.407800  DT.408674  DT.100023665  DT.100864401  DT.100846796  DT.100864405  DT.100864399  DT.444893 
    DT.95071725  DT.120947087  DT.40254982  DT.120947079  DT.97794726 

    Selected AceView cDNA sequences (see all 395):

    CR614765 NM_014922 AA913016 AA836083 BM722905 CA308213 NM_033006 BU633947 
    CR619296 CR622361 CD107219 CR612487 CA447361 CR620726 BM671397 BE464469 
    BU736277 AA376450 BM759667 AI825353 BX341135 AA971909 AL117470 AI338579 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    NLRP1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGAATAACTT
    NLRP1 Expression
    About this image


    NLRP1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Endothelium (Cardiovascular System)
             Endothelial-like cells
     
     Brain (Nervous System)
             Cerebral Cortex
     
     Spleen (Hematopoietic System)
    NLRP1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    NLRP1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.652273

    UniProtKB/Swiss-Prot: NALP1_HUMAN, Q9C000
    Tissue specificity: Widely expressed. Isoform 1 and isoform 2 are expressed in peripheral blood leukocytes and
    chronic myelogenous leukemia cell line K-562, followed by thymus, spleen and heart. Also detected in brain, lung,
    placenta, small intestine, colon, kidney, liver, muscle, testis and epithelial cells. Absent from hematopoietic
    progenitor cells but expressed upon differentiation of cells into granulocytes and, to a lesser extent,
    monocytes. In peripheral blood cells, highest levels are found in T-lymphocytes, granulocytes and monocytes.
    Expression is significantly increased in bone marrow blast cells of some acute leukemia patients but not in solid
    tumors. Expressed in adult cornea as well as adult and 24-week fetal tissues, including choroid, sclera, cornea,
    optic nerve, and adult retina and fetal retina/retinal pigment epithelium. In addition, expressed in corneal
    epithelia obtained during photorefractive keratectomy

        Pathway & Disease-focused RT2 Profiler PCR Arrays including NLRP1: 
              Inflammasomes in human mouse rat
              Apoptosis 384HT in human mouse rat
              Antibacterial Response in human mouse rat

    Primer
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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for NLRP1 gene from Selected species (see all 7)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Nlrp1a5
    Nlrp1b1
    NLR family, pyrin domain containing 1A5
    NLR family, pyrin domain containing 1B1
    69.76(n)1
    56.12(a)1
      11 (43.21 cM)5
    6375151  NM_001040696.11  NP_001035786.11 
     710922365 
    zebrafish
    (Danio rerio)
    Actinopterygii NLRP16
    NLR family, pyrin domain containing 1
    12(a)
    1 → many
    7(76802107-76814306) ENSDARG00000044796


    ENSEMBL Gene Tree for NLRP1 (if available)
    TreeFam Gene Tree for NLRP1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for NLRP1 gene
    NLRC52  NOD22  NLRX12  CARD82  NOD12  CIITA2  
    9 SIMAP similar genes for NLRP1 using alignment to 4 protein entries:     NALP1_HUMAN (see all proteins):
    CIAS1    NLRP2    RNH1    CARD8    NLRP3    NLRP12
    PYCARD    NLRP14    PP1579

    Find genes that share paralogs with NLRP1           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for NLRP1 (see all 2583)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0699014
    Corneal intraepithelial dyskeratosis and ectodermal dysplasia (CIDED)4--see VAR_0699012 M T mis40--------
    rs1994757051,2
    Cuntested15392634(-) TCAATA/TTCTAG 1 -- ut310--------
    rs1994757021,2
    Cuntested15430742(-) GGCGTA/GCGACT 10 V syn10--------
    rs1994762101,2
    Cuntested15433319(-) CCATGG/TGTGTG 5 -- int10--------
    rs1994757001,2
    Cuntested15473952(-) GGACGA/CCGCTG 10 R syn10--------
    rs1994762061,2
    Cuntested15474778(-) TTGCTA/GGGGGG 5 -- int10--------
    rs1994756991,2
    Cuntested15475388(-) ATCGGC/TGTCTA 5 -- ut510--------
    rs121502201,2,,4
    C,F,Hother15473319(+) AGAGGA/TGTGAG 10 H L mis1 ese321Minor allele frequency- T:0.28NS EA NA CSA EU 6472
    rs592356111,2
    C--5301969(+) GATAC-/AATCATC
    C
    /CAATCATC
    TATCC
    1 -- int10--------
    rs1113111361,2
    C--5305195(+) TTCTTTCCC/-  
            
    TCCCT
    1 -- int11Minor allele frequency- -:0.50CSA 2

    HapMap Linkage Disequilibrium report for NLRP1 (5402747 - 5522744 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for NLRP1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv993076CNV Deletion20482838
    esv2715570CNV Deletion23290073
    esv1271433CNV Deletion17803354
    nsv1957CNV Insertion18451855
    nsv1956CNV Loss18451855
    nsv907625CNV Loss21882294

    Human Gene Mutation Database (HGMD): NLRP1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing NLRP1
    DNA2.0 Custom Variant and Variant Library Synthesis for NLRP1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 606636   
    OMIM disorders: 606579  615225  
    UniProtKB/Swiss-Prot: NALP1_HUMAN, Q9C000
  • Vitiligo (VTLG) [MIM:193200]: A pigmentary disorder of the skin and mucous membranes. It is characterized
    by circumscribed depigmented macules and patches, commonly on extensor aspects of extremities, on the face or
    neck and in skin folds. Vitiligo is a progressive disorder in which some or all of the melanocytes in the
    affected skin are selectively destroyed. It is a multifactorial disorder with a complex etiology probably
    including autoimmune mechanisms, and is associated with an elevated risk of other autoimmune diseases.
    Note=Disease susceptibility is associated with variations affecting the gene represented in this entry
  • Vitiligo-associated multiple autoimmune disease 1 (VAMAS1) [MIM:606579]: A disorder characterized by the
    association of vitiligo with several autoimmune and autoinflammatory diseases including autoimmune thyroid
    disease, rheumatoid arthritis and systemic lupus erythematosus. Note=Disease susceptibility is associated with
    variations affecting the gene represented in this entry
  • Corneal intraepithelial dyskeratosis and ectodermal dysplasia (CIDED) [MIM:615225]: A disease
    characterized by keratopathy with neovascularization, bilateral corneal opacification, palmoplantar
    hyperkeratosis, dyshidrosis, and dystrophic nails. Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • 9 diseases for NLRP1:    
    About MalaCards
    corneal intraepithelial dyskeratosis and ectodermal dysplasia    vitiligo    vitiligo-associated multiple autoimmune disease susceptibility 1    autoimmune disease 1
    congenital toxoplasmosis    niemann-pick disease    pick's disease    toxoplasmosis
    systemic lupus erythematosus

    1 disease from the University of Copenhagen DISEASES database for NLRP1:
    Vitiligo

    Find genes that share disorders with NLRP1           About GenesLikeMe

    Genetic Association Database (GAD): NLRP1
    Human Genome Epidemiology (HuGE) Navigator: NLRP1 (21 documents)

    Export disorders for NLRP1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for NLRP1 gene, integrated from 10 sources (see all 82):
    (articles sorted by number of sources associating them with NLRP1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. NALP1 in vitiligo-associated multiple autoimmune disease. (PubMed id 17377159)1, 2, 3 Jin Y.... Spritz R.A. (N. Engl. J. Med. 2007)
    2. Inflammasome components NALP 1 and 3 Show distinct but separate Expression profiles in human tissues suggesting a site-specific role in the inflammatory response. (PubMed id 17164409)1, 2, 9 Kummer J.A.... Tschopp J. (J. Histochem. Cytochem. 2007)
    3. Expression of NALP1 in cerebellar granule neurons stimulates apoptosis. (PubMed id 15212762)1, 2, 9 Liu F.... Ozenberger B.A. (Cell. Signal. 2004)
    4. Molecular cloning and characterization of DEFCAP-L and -S, two isoforms of a novel member of the mammalian Ced-4 family of apoptosis proteins. (PubMed id 11076957)1, 2, 9 Hlaing T.... Ward P.A. (J. Biol. Chem. 2001)
    5. Polymorphisms in NACHT-LRR (NLR) genes in atopic dermatitis. (PubMed id 17620097)1, 4, 9 Macaluso F....Hoffjan S. (Exp. Dermatol. 2007)
    6. NALPs: a novel protein family involved in inflammation. (PubMed id 12563287)1, 3, 9 Tschopp J.... Burns K. (Nat. Rev. Mol. Cell Biol. 2003)
    7. Whole exome sequencing identifies a mutation for a novel form of corneal intraepithelial dyskeratosis. (PubMed id 23349227)1, 2 Soler V.J....Young T.L. (J. Med. Genet. 2013)
    8. Genetic predictors of glucocorticoid response in pediatric patients with inflammatory bowel diseases. (PubMed id 20697295)1, 4 De Iudicibus S....Decorti G. (J. Clin. Gastroenterol. 2011)
    9. Fine-mapping of vitiligo susceptibility loci on chromosomes 7 and 9 and interactions with NLRP1 (NALP1). (PubMed id 19727120)1, 4 Jin Y....Spritz R.A. (J. Invest. Dermatol. 2010)
    10. The genetics of NOD-like receptors in Crohn's disease. (PubMed id 20403135)1, 4 Cummings J.R....Jewell D.P. (Tissue Antigens 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 22861 HGNC: 14374 AceView: NALP1 Ensembl:ENSG00000091592 euGenes: HUgn22861
    ECgene: NLRP1 Kegg: 22861 H-InvDB: NLRP1

    (According to HUGE)
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    HUGE: KIAA0926

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for NLRP1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for NLRP1 gene:
    Search GeneIP for patents involving NLRP1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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