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Pnpla1 Gene Detail
Summary
  • Symbol
    Pnpla1
  • Name
    patatin-like phospholipase domain containing 1
  • Feature Type
    protein coding gene
  • IDs
    MGI:3617850
    NCBI Gene: 433091
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr17:28858411-28890308 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      31898 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 17, 15.03 cM
  • Mapping Data
    1 experiment
Homology
more
  • Human Ortholog
    PNPLA1, patatin like phospholipase domain containing 1
  • Vertebrate Orthologs
    8
  • Human Ortholog
    PNPLA1, patatin like phospholipase domain containing 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    ARCI10, dJ50J22.1
  • Links
    NCBI Gene ID: 285848
    neXtProt AC: NX_Q8N8W4
    UniProt: Q8N8W4

  • Chr Location
    6p21.31; chr6:36242523-36313955 (+)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with human PNPLA1 associations

Human Disease Mouse Models
      
IDs
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    31 phenotypes from 4 alleles in 3 genetic backgrounds
    8 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
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
neoplasm
vision/eye

Click cells to view annotations.
Mice homozygous for a knock-out allele exhibit neonatal lethality; shiny, red, dry, wrinkled and non-elastic skin; reduced size and weight at birth; fail to suckle; and exhibit skin defects associated with a lack of omega-O-acylceramides.
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
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000024254 VEGA Gene Model | MGI Sequence Detail 31898 C57BL/6J ±  kb
transcript OTTMUST00000059372 VEGA | MGI Sequence Detail 4483 Not Applicable  
polypeptide OTTMUSP00000028874 VEGA | MGI Sequence Detail 599 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    270 from dbSNP Build 142
Protein
Information
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  • UniProt
    2 Sequences
  • Protein Ontology
    PR:000012941 patatin-like phospholipase domain-containing protein 1
  • EC
  • InterPro Domains
    IPR016035 Acyl transferase/acyl hydrolase/lysophospholipase
    IPR002641 Patatin-like phospholipase domain
    IPR033562 Patatin-like phospholipase domain-containing protein
Molecular
Reagents
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  • All nucleic 9
    cDNA 9

    Microarray probesets 3
References
more
  • Summaries
    All 31
    Developmental Gene Expression 1
    Gene Ontology 4
    Phenotypes 8
  • Earliest
    J:153498 Diez-Roux G, et al., A high-resolution anatomical atlas of the transcriptome in the mouse embryo. PLoS Biol. 2011;9(1):e1000582
  • Latest
    J:242353 Pichery M, et al., PNPLA1 defects in patients with autosomal recessive congenital ichthyosis and KO mice sustain PNPLA1 irreplaceable function in epidermal omega-O-acylceramide synthesis and skin permeability barrier. Hum Mol Genet. 2017 May 15;26(10):1787-1800

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
11/28/2017
MGI 6.11
The Jackson Laboratory