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Nlrp1a Gene Detail
Summary
  • Symbol
    Nlrp1a
  • Name
    NLR family, pyrin domain containing 1A
  • Synonyms
    Nalp1, Nalp1a
  • Feature Type
    protein coding gene
  • IDs
    MGI:2684861
    NCBI Gene: 195046
  • Gene Overview
    MyGene.info: NLRP1
Location & Maps
more
  • Sequence Map
    Chr11:71092236-71144704 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      52469 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    NLRP1, NLR family, pyrin domain containing 1
  • Vertebrate Orthologs
    2
  • Human Ortholog
    NLRP1, NLR family, pyrin domain containing 1
    Orthology source: HGNC
  • Synonyms
    CARD7, CIDED, CLR17.1, DEFCAP, DEFCAP-L/S, NAC, NALP1, PP1044, SLEV1, VAMAS1
  • Links
    NCBI Gene ID: 22861
    neXtProt AC: NX_Q9C000

  • Chr Location
    17p13.2; chr17:5501399-5584512 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    2 with human NLRP1 associations

Human Disease Mouse Models
       Corneal Intraepithelial Dyskeratosis and Ectodermal Dysplasia; CIDED   OMIM: 615225
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1;   OMIM: 606579
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    13 phenotypes from 1 allele in 1 genetic background
    17 phenotypes from multigenic genotypes
    13 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    6
  • Chemically induced (ENU)
    1
  • Chemically induced (other)
    1
  • Targeted
    4
  • Genomic Mutations
    3 involving Nlrp1a
  • Incidental Mutations
Mice heterozygous for an ENU-induced allele develop a multi-organ neutrophilic inflammatory disease. Homozygotes for the same ENU-induced allele develop a similar but lethal condition and exhibit neutrophilia, lymphopenia, splenomegaly, loss of peritoneal macrophages, and premature death.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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  • cDNA Data
Interactions
less
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000006088 VEGA Gene Model | MGI Sequence Detail 52469 C57BL/6J ±  kb
transcript OTTMUST00000049360 VEGA | MGI Sequence Detail 3903 Not Applicable  
polypeptide OTTMUSP00000022851 VEGA | MGI Sequence Detail 1300 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    491 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 2
    cDNA 2

    Microarray probesets 1
Other
Accession IDs
less
MGI:2684860
References
more
  • Summaries
    All 26
    Gene Ontology 5
    Phenotypes 13
  • Earliest
    J:85109 Stehlik C, et al., CARD6 is a modulator of NF-kappa B activation by Nod1- and Cardiak-mediated pathways. J Biol Chem. 2003 Aug 22;278(34):31941-9
  • Latest
    J:210638 Gerlic M, et al., NLRP1a expression in Srebp-1a-deficient mice. Cell Metab. 2014 Mar 4;19(3):345-6

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
04/19/2016
MGI 6.03
The Jackson Laboratory