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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

NLRP1 Gene

protein-coding   GIFtS: 60
GCID: GC17M005407

NLR family, pyrin domain containing 1

(Previous names: NACHT, leucine rich repeat and PYD (pyrin domain) containing...)
(Previous symbol: NALP1)
 Explore 22 diseases affiliated with
NLRP1 via our new
 Human Malady Compendium 
Biological research products
for NLRP1
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
NLR Family, Pyrin Domain Containing 11 2     SLEV12 5
CARD71 2 3 5     VAMAS12 5
DEFCAP1 2 3 5     DKFZp586O18221
NALP11 2 3 5     DEFCAP-L/S2
NAC1 2 3     PP10442
KIAA09261 3 5     Caspase Recruitment Domain Protein 72
CLR17.11 2     NACHT, Leucine Rich Repeat And PYD Containing 12
NACHT, Leucine Rich Repeat And PYD (Pyrin Domain) Containing 11 2     NACHT, LRR And PYD Containing Protein 12
Caspase Recruitment Domain-Containing Protein 72 3     NACHT, LRR And PYD Domains-Containing Protein 12
Death Effector Filament-Forming Ced-4-Like Apoptosis Protein2 3     Nucleotide-Binding Oligomerization Domain, Leucine Rich Repeat And Pyrin Domain
Containing 12
Nucleotide-Binding Domain And Caspase Recruitment Domain2 3     

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for NLRP1:
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)

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


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000017.10  NC_018928.1  NT_010718.16  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for NLRP1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

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
Subcellular location: Cytoplasm. Nucleus
Sequence caution: Sequence=BAA76770.2; Type=Erroneous initiation;
2 PDB 3D structures from and Proteopedia for NLRP1:
1PN5 (3D)        3KAT (3D)    
Secondary accessions: Q9BZZ8 Q9BZZ9 Q9HAV8 Q9UFT4 Q9Y2E0
Alternative splicing: 4 isoforms:  Q9C000-1   Q9C000-2   Q9C000-3   Q9C000-4   

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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9C000

  • NLRP1 Protein expression data from MOPED and PaxDb:    About this image 
    NLRP1 Protein Expression
    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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    Uscn Proteins for NLRP1

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

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

    NLRP1 for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    NLRP1 for domains           About GeneDecksing

    5/7 InterPro domains/families (see all 7):
     IPR007111 NACHT_NTPase
     IPR001611 Leu-rich_rpt
     IPR004020 DAPIN
     IPR011029 DEATH-like_dom
     IPR000767 Disease_R

    Graphical View of Domain Structure for InterPro Entry Q9C000

    ProtoNet protein and cluster: Q9C000

    3 Blocks protein families:
    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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    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 (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI19337385
    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
         
    NLRP1 for ontologies           About GeneDecksing


    Animal Models:
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/7 super-pathways (see all 7About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1NLRP1 oligomerizes
    NLRP1 senses MDP1.00
    The NLRP1 inflammasome0.33
    NLRP1 oligomerizes1.00
    2Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways
    Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways1.00
    NOD pathway0.23
    NOD-like receptor signaling pathway0.36
    3Immune System
    Immune System1.00
    Innate Immune System0.46
    4NF-kappaB Signaling
    NF-kappaB Signaling1.00
    5Apoptosis and Autophagy
    Apoptosis and Autophagy1.00

    Pathway sources
    See GeneCards unified pathways
    Show all 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

    5/7        Reactome Pathways for NLRP1 (see all 7)
        NLRP1 senses MDP
    The NLRP1 inflammasome
    NLRP1 oligomerizes
    Inflammasomes
    Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways


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


    NLRP1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for NLRP1

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

    5/16 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): 5/10 biological process terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006917induction of apoptosis 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--

    NLRP1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
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    Search CenterWatch for drugs/clinical trials and news about NLRP1 / NALP1 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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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    Additional cDNA 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 

    24/395 AceView cDNA sequences (see all 395):

    CR623524 CD107219 BE382901 BX341135 AI338579 BM759667 CD107655 AA971909 
    AL117470 BM671397 CR620726 CA447361 CR612487 BF059271 AL601917 BM722905 
    AA836083 CA308213 AA913016 NM_014922 CR614765 BQ639913 AF229061 AF310105 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    NLRP1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AGAATAACTT
    NLRP1 Expression
    About this image
    See NLRP1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for NLRP1

    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

        SABiosciences Expression via Pathway-Focused PCR Arrays including NLRP1: 
              Inflammasomes in human mouse rat
              Apoptosis 384HT in human mouse rat
              Antibacterial Response in human mouse rat

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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)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for NLRP1 gene from 2/9 species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    28(a)
    possible ortholog
    GL343281.1(869690-874415)
    zebrafish
    (Danio rerio)
    Actinopterygii si:dkey-61p9.96
    si:ch211-218h8.36
    (see all 220)
    si:ch211-218h8.3
    (see all 220)
    9(a)
    9(a)
    (see all 220)
    many ↔ many
    many ↔ many
    (see all 220)
    4(61365033-61373983)
    4(34090086-34095783)


    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)
    About This Section
    Paralogs for NLRP1 gene
    NLRP132  NLRP42  NLRP92  NLRP62  NLRP32  NLRP142  NLRP72  NLRP112  
    NLRP102  NLRP22  NLRP52  NLRP82  NLRP122  
    11 SIMAP similar genes for NLRP1 using alignment to 6 protein entries:     NALP1_HUMAN (see all proteins):
    CIAS1    NLRP2    CARD8    RNH1    DKFZp686B22249    NLRP3
    NLRP12    PYCARD    NLRP14    PP1579    NLRP10

    NLRP1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/2288 NCBI SNPs in NLRP1 are shown (see all 2288    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1994757051,2
    Cuntested5294926(-) TCAATA/TTCTAG 1 -- ut310--------
    rs1994757021,2
    Cuntested5332916(-) GGCGTA/GCGACT 10 V syn10--------
    rs1994762101,2
    Cuntested5335493(-) CCATGG/TGTGTG 5 -- int10--------
    rs1994757001,2
    Cuntested5375772(-) GGACGA/CCGCTG 10 R syn10--------
    rs1994756991,2
    Cuntested5377208(-) ATCGGC/TGTCTA 5 -- ut510--------
    rs121502201,2
    C,F,Hother5375139(+) AGAGGA/TGTGAG 10 H L mis1 ese321Minor allele frequency- T:0.28NS EA NA CSA EU 6472
    rs8725691,2
    C,F,A--5294405(-) GGGCTC/GTTTCG 1 -- ds500112Minor allele frequency- G:0.24MN NA EA WA CSA 912
    rs1168272901,2
    C,F--5294978(+) CACAAT/CCCCAA 1 -- ut311Minor allele frequency- C:0.04WA 118
    rs1181044651,2
    C,F--5295140(+) TCGCAT/CATGAT 1 -- ut312Minor allele frequency- C:0.02NA EA 240
    rs789668511,2
    --5295402(+) ACTGGC/TCGGCT 1 -- int11Minor allele frequency- T:0.01NA 120

    HapMap Linkage Disequilibrium report for NLRP1 (5402747 - 5522744 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for NLRP1
         2 Indels: 40160 25884
    Human Gene Mutation Database (HGMD): NLRP1

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    (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.)
    About This Section

    NLRP1 for disorders           About GeneDecksing

    OMIM gene information: 606636   
    OMIM disorders: 606579  
    UniProtKB/Swiss-Prot: NALP1_HUMAN, Q9C000
  • Genetic variations in NLRP1 are associated with susceptibility to vitiligo (VTLG) [MIM:193200]. VTLG is a
  • pigmentary disorder of the skin characterized by circumscribed depigmented macules and patches, commonly on extensor
    aspects of extremities, on the face or neck and in skin folds. It 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
  • Genetic variations in NLRP1 gene are associated with susceptibility to vitiligo-associated multiple autoimmune
  • disease type 1 (VAMAS1) [MIM:606579]. VAMAS1 is an autoimmune disorder characterized by the association of vitiligo
    with several autoimmune and autoinflammatory diseases including autoimmune thyroid disease, rheumatoid arthritis and
    systemic lupus erythematosus

    20/22 diseases for NLRP1 (see all 22):    About MalaCards
    vitiligo-associated multiple autoimmune disease susceptibility 1    spinal cord injury    toxic encephalopathy    vitiligo
    systemic lupus erythematosus    gastrointestinal system disease    lupus erythematosus    inflammatory bowel disease
    atopic dermatitis    chronic lymphocytic leukemia    lymphocytic leukemia    addison's disease
    celiac disease    rheumatoid arthritis    dermatitis    crohn's disease
    parkinson's disease    acute leukemia    leukemia    arthritis

    1 disease from the University of Copenhagen DISEASES database for NLRP1:
    Vitiligo
    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)
    About This Section

    PubMed articles for NLRP1 gene, integrated from 9 sources (see all 67):
    (articles sorted by number of sources associating them with NLRP1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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. (2007)
    2. Expression of NALP1 in cerebellar granule neurons stimulates apoptosis. (PubMed id 15212762)1, 2, 9 Liu F.... Ozenberger B.A. (2004)
    3. 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. (2001)
    4. NALPs: a novel protein family involved in inflammation. (PubMed id 12563287)1, 3, 9 Tschopp J....Burns K. (2003)
    5. NALP1 in vitiligo-associated multiple autoimmune disease. (PubMed id 17377159)1, 2 Jin Y.... Spritz R.A. (2007)
    6. NMR structure of the apoptosis- and inflammation-related NALP1 pyrin domain. (PubMed id 14527388)1, 2 Hiller S.... Wuethrich K. (2003)
    7. The inflammasome: a molecular platform triggering activation of inflammatory caspases and processing of proIL-beta. (PubMed id 12191486)1, 2 Martinon F.... Tschopp J. (2002)
    8. The pyrin domain: a possible member of the death domain-fold family implicated in apoptosis and inflammation. (PubMed id 11250163)1, 2 Martinon F.... Tschopp J. (2001)
    9. A novel enhancer of the Apaf1 apoptosome involved in cytochrome c- dependent caspase activation and apoptosis. (PubMed id 11113115)1, 2 Chu Z.-L.... Reed J.C. (2001)
    10. The PYRIN domain: a novel motif found in apoptosis and inflammation proteins. (PubMed id 11270363)1, 2 Bertin J. and DiStefano P.S. (2000)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
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      Query String
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 22861 HGNC: 14374 AceView: NALP1 Ensembl:ENSG00000091592 euGenes: HUgn22861
    ECgene: NLRP1 Kegg: 22861 H-InvDB: NLRP1

    (According to HUGE)
    About This Section
    HUGE: KIAA0926

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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.)
    About This Section
    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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