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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
  • Alliance
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr11:71092236-71144704 bp, - strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 11, 43.21 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    491 from dbSNP Build 142
  • Strain Annotations
    16
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2684861
protein coding gene Chr11:71091197-71144973 (-)
129S1/SvImJ MGP_129S1SvImJ_G0018624
protein coding gene Chr11:71660003-71839299 (-)
A/J MGP_AJ_G0018592
protein coding gene Chr11:68953742-69001305 (-)
AKR/J MGP_AKRJ_G0018561
protein coding gene Chr11:71012821-71063493 (-)
BALB/cJ MGP_BALBcJ_G0018564
protein coding gene Chr11:69244008-69356006 (-)
C3H/HeJ MGP_C3HHeJ_G0018377
protein coding gene Chr11:71052312-71158430 (-)
C57BL/6NJ MGP_C57BL6NJ_G0019015
protein coding gene Chr11:73833364-73900024 (-)
CAROLI/EiJ no annotation
CAST/EiJ MGP_CASTEiJ_G0017932
protein coding gene Chr11:71314032-71368718 (-)
CBA/J MGP_CBAJ_G0018349
protein coding gene Chr11:77169265-77269491 (-)
DBA/2J MGP_DBA2J_G0018459
protein coding gene Chr11:68505164-68556960 (-)
FVB/NJ MGP_FVBNJ_G0018449
protein coding gene Chr11:68155043-68334037 (-)
LP/J MGP_LPJ_G0018529
protein coding gene Chr11:72250462-72348911 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0018472
protein coding gene Chr11:77702034-77753755 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0019057
protein coding gene Chr11:71265173-71369015 (-)
PWK/PhJ MGP_PWKPhJ_G0017706
protein coding gene Chr11:69175632-69228538 (-)
SPRET/EiJ no annotation
WSB/EiJ MGP_WSBEiJ_G0017986
protein coding gene Chr11:70941528-70992093 (-)



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
    AIADK, CARD7, CIDED, CLR17.1, DEFCAP, DEFCAP-L/S, MSPC, NAC, NALP1, PP1044, SLEV1, VAMAS1
  • Links
    NCBI Gene ID: 22861
    neXtProt AC: NX_Q9C000
    UniProt: Q9C000

  • Chr Location
    17p13.2; chr17:5501399-5584512 (-)  GRCh38.p7

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    30 phenotypes from 3 alleles in 3 genetic backgrounds
    17 phenotypes from multigenic genotypes
    17 phenotype references
Phenotype Overview

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

Click cells to view annotations.
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
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell population proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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 ENSMUSG00000069830 Ensembl Gene Model | MGI Sequence Detail 52469 C57BL/6J ±  kb
transcript ENSMUST00000048514 Ensembl | MGI Sequence Detail 3903 Not Applicable  
polypeptide ENSMUSP00000038186 Ensembl | MGI Sequence Detail 1300 Not Applicable  
For the selected sequence
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 3
    cDNA 3

    Microarray probesets 1
Other
Accession IDs
less
MGI:2684860
References
more
  • Summaries
    All 50
    Gene Ontology 7
    Phenotypes 17
  • Earliest
    J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
  • Latest
    J:260703 Nakamura K, et al., Dysregulated IL-18 Is a Key Driver of Immunosuppression and a Possible Therapeutic Target in the Multiple Myeloma Microenvironment. Cancer Cell. 2018 Apr 9;33(4):634-648.e5

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
12/04/2018
MGI 6.13
The Jackson Laboratory