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Aliases for PNPLA1 Gene

Aliases for PNPLA1 Gene

  • Patatin Like Phospholipase Domain Containing 1 2 3 5
  • Patatin-Like Phospholipase Domain-Containing Protein 1 3
  • Patatin-Like Phospholipase Domain Containing 1 2
  • EC 3.1.1.- 4
  • DJ50J22.1 3
  • ARCI10 3

External Ids for PNPLA1 Gene

Previous GeneCards Identifiers for PNPLA1 Gene

  • GC06P036212
  • GC06P036257
  • GC06P036318
  • GC06P035930
  • GC06P036337
  • GC06P037304
  • GC06P036919
  • GC06P036958
  • GC06P037784
  • GC06P038409
  • GC06P038998
  • GC06P039587
  • GC06P040147

Summaries for PNPLA1 Gene

Entrez Gene Summary for PNPLA1 Gene

  • The protein encoded by this gene belongs to the patatin-like phospholipase (PNPLA) family, which is characterized by the presence of a highly conserved patatin domain. PNPLA family members have diverse lipolytic and acyltransferase activities, and are key elements in lipid metabolism. While other members of this family have been well characterized, the function of this gene remained an enigma. However, recent studies show that this gene is expressed in the skin epidermal keratinocytes, and has a role in glycerophospholipid metabolism in the cutaneous barrier. Consistent with these observations, mutations in this gene are associated with ichthyosis in human (autosomal recessive congenital ichthyoses, ARCI) and dog. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2012]

GeneCards Summary for PNPLA1 Gene

PNPLA1 (Patatin Like Phospholipase Domain Containing 1) is a Protein Coding gene. Diseases associated with PNPLA1 include Ichthyosis, Congenital, Autosomal Recessive 10 and Congenital Ichthyosiform Erythroderma. Gene Ontology (GO) annotations related to this gene include hydrolase activity. An important paralog of this gene is PNPLA2.

UniProtKB/Swiss-Prot for PNPLA1 Gene

  • Lipid hydrolase. Important in the formation of the epidermal lipid barrier. Plays a role in glycerophospholipid metabolism.

Additional gene information for PNPLA1 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PNPLA1 Gene

Genomics for PNPLA1 Gene

GeneHancer (GH) Regulatory Elements for PNPLA1 Gene

Promoters and enhancers for PNPLA1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06I036357 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 10.2 +118.8 118762 1.4 HDGF PKNOX1 BMI1 BATF KLF5 IRF4 ATF7 IKZF2 RUNX3 CREM C6orf222 ETV7 LOC105375037 FGD2 MAPK13 KCTD20 PXT1 PNPLA1 CPNE5 PIR35042
GH06I036302 Enhancer 1.2 Ensembl ENCODE 10.7 +62.9 62935 0.6 ARNT ARID4B ZNF2 IRF4 ZNF143 ATF7 RUNX3 DEK REST MIER2 SRSF3 ENSG00000219023 RPL10A C6orf222 PNPLA1 MAPK13 MAPK14 RAB44 SLC26A8 LOC105375036
GH06I036290 Enhancer 1.1 Ensembl ENCODE 11.4 +51.6 51586 3 PKNOX1 ZNF766 FOS ATF7 ZNF623 ATF4 SMARCA4 NBN NR2C1 KDM1A C6orf222 PNPLA1 CLPS BRPF3 MAPK13 LOC105375036
GH06I036360 Enhancer 1.2 Ensembl ENCODE dbSUPER 10.2 +120.9 120885 1.1 ELF3 RB1 ARID4B SIN3A KLF5 ZNF48 RAD21 SLC30A9 SCRT2 ZNF143 C6orf222 ETV7 LOC105375037 KCTD20 PXT1 PNPLA1 PIR35042
GH06I036364 Enhancer 1 Ensembl ENCODE dbSUPER 10.2 +125.5 125529 1.5 BCOR ZNF687 ZMYM3 EBF1 RELA ZNF217 IKZF1 NBN MLLT1 ZBTB33 C6orf222 ETV7 LOC105375037 MAPK13 KCTD20 PXT1 LOC102723648 BRPF3 PNPLA1 SLC26A8
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around PNPLA1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PNPLA1 gene promoter:

Genomic Locations for PNPLA1 Gene

Genomic Locations for PNPLA1 Gene
74,190 bases
Plus strand

Genomic View for PNPLA1 Gene

Genes around PNPLA1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PNPLA1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PNPLA1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PNPLA1 Gene

Proteins for PNPLA1 Gene

  • Protein details for PNPLA1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Patatin-like phospholipase domain-containing protein 1
    Protein Accession:
    Secondary Accessions:
    • A3RMU3
    • J3JS20
    • Q2A6N1
    • Q3SY95
    • Q3SY96
    • Q5R3L2

    Protein attributes for PNPLA1 Gene

    532 amino acids
    Molecular mass:
    57875 Da
    Quaternary structure:
    No Data Available
    • Sequence=CAI21612.2; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for PNPLA1 Gene


neXtProt entry for PNPLA1 Gene

Post-translational modifications for PNPLA1 Gene

No Post-translational modifications

No data available for DME Specific Peptides for PNPLA1 Gene

Domains & Families for PNPLA1 Gene

Gene Families for PNPLA1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for PNPLA1 Gene

Suggested Antigen Peptide Sequences for PNPLA1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with PNPLA1: view

No data available for UniProtKB/Swiss-Prot for PNPLA1 Gene

Function for PNPLA1 Gene

Molecular function for PNPLA1 Gene

UniProtKB/Swiss-Prot Function:
Lipid hydrolase. Important in the formation of the epidermal lipid barrier. Plays a role in glycerophospholipid metabolism.

Enzyme Numbers (IUBMB) for PNPLA1 Gene

Gene Ontology (GO) - Molecular Function for PNPLA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004806 triglyceride lipase activity IBA --
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with PNPLA1: view
genes like me logo Genes that share phenotypes with PNPLA1: view

Human Phenotype Ontology for PNPLA1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PNPLA1 Gene

MGI Knock Outs for PNPLA1:

Animal Model Products

Clone Products

No data available for Phenotypes From GWAS Catalog , miRNA , Transcription Factor Targets and HOMER Transcription for PNPLA1 Gene

Localization for PNPLA1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PNPLA1 Gene

Cytoplasm. Note=Clearly distributed in the cytoplasm of keratinocytes.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PNPLA1 gene
Compartment Confidence
cytoskeleton 3
plasma membrane 1
mitochondrion 1
peroxisome 1
nucleus 1
endoplasmic reticulum 1
cytosol 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Intermediate filaments (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PNPLA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA,IEA 22246504
GO:0005811 lipid droplet IBA --
GO:0016020 membrane IBA --
genes like me logo Genes that share ontologies with PNPLA1: view

Pathways & Interactions for PNPLA1 Gene

SuperPathways for PNPLA1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for PNPLA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IEA --
GO:0008152 metabolic process IEA --
GO:0016042 lipid catabolic process IEA --
GO:0019433 triglyceride catabolic process IBA --
GO:0055088 lipid homeostasis IBA --
genes like me logo Genes that share ontologies with PNPLA1: view

No data available for Pathways by source and SIGNOR curated interactions for PNPLA1 Gene

Drugs & Compounds for PNPLA1 Gene

No Compound Related Data Available

Transcripts for PNPLA1 Gene

mRNA/cDNA for PNPLA1 Gene

(10) REFSEQ mRNAs :
(6) Additional mRNA sequences :
(4) Selected AceView cDNA sequences:
(5) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for PNPLA1 Gene

Patatin-like phospholipase domain containing 1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PNPLA1 Gene

No ASD Table

Relevant External Links for PNPLA1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for PNPLA1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PNPLA1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PNPLA1 Gene

This gene is overexpressed in Skin - Sun Exposed (Lower leg) (x15.9), Skin - Not Sun Exposed (Suprapubic) (x15.6), and Whole Blood (x11.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for PNPLA1 Gene

NURSA nuclear receptor signaling pathways regulating expression of PNPLA1 Gene:


SOURCE GeneReport for Unigene cluster for PNPLA1 Gene:


mRNA Expression by UniProt/SwissProt for PNPLA1 Gene:

Tissue specificity: Expressed in the digestive system. Expressed in the epidermis of skin keratinocytes. Strongly expressed in the granular layer. Expressed in the upper epidermis and eccrine sweat glands of the dermis and in the region of keratin filament bundles, which is more pronounced in upper epidermal layers and in the lower cornified layers.

Evidence on tissue expression from TISSUES for PNPLA1 Gene

  • Kidney(4.1)
  • Skin(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PNPLA1 Gene

Germ Layers:
  • ectoderm
  • mesoderm
  • cardiovascular
  • immune
  • integumentary
  • nervous
  • reproductive
  • skeletal muscle
Head and neck:
  • brain
  • ear
  • eye
  • eyelid
  • face
  • head
  • penis
  • vulva
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • nail
  • toe
  • upper limb
  • blood
  • blood vessel
  • hair
  • skin
  • spinal cord
  • sweat gland
  • white blood cell
genes like me logo Genes that share expression patterns with PNPLA1: view

No data available for Protein differential expression in normal tissues and Protein tissue co-expression partners for PNPLA1 Gene

Orthologs for PNPLA1 Gene

This gene was present in the common ancestor of animals.

Orthologs for PNPLA1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia PNPLA1 33 34
  • 99.19 (n)
(Bos Taurus)
Mammalia PNPLA1 33 34
  • 84.78 (n)
(Canis familiaris)
Mammalia PNPLA1 33 34
  • 83.2 (n)
(Mus musculus)
Mammalia Pnpla1 33 16 34
  • 72.02 (n)
(Rattus norvegicus)
Mammalia Pnpla1 33
  • 69.37 (n)
(Monodelphis domestica)
Mammalia PNPLA1 34
  • 55 (a)
(Ornithorhynchus anatinus)
Mammalia PNPLA1 34
  • 55 (a)
(Gallus gallus)
Aves PNPLA1 33
  • 63.66 (n)
-- 34
  • 54 (a)
-- 34
  • 38 (a)
(Anolis carolinensis)
Reptilia -- 34
  • 45 (a)
-- 34
  • 43 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100497390 33
  • 55.56 (n)
(Danio rerio)
Actinopterygii CABZ01030033.1 34
  • 16 (a)
fruit fly
(Drosophila melanogaster)
Insecta dob 34
  • 23 (a)
bmm 34
  • 21 (a)
(Caenorhabditis elegans)
Secernentea C05D11.7 34
  • 16 (a)
Species where no ortholog for PNPLA1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PNPLA1 Gene

Gene Tree for PNPLA1 (if available)
Gene Tree for PNPLA1 (if available)

Paralogs for PNPLA1 Gene

Paralogs for PNPLA1 Gene

(4) SIMAP similar genes for PNPLA1 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with PNPLA1: view

Variants for PNPLA1 Gene

Sequence variations from dbSNP and Humsavar for PNPLA1 Gene

SNP ID Clin Chr 06 pos Variation AA Info Type
rs1024746164 uncertain-significance, Congenital ichthyosiform erythroderma 36,308,126(+) C/T 3_prime_UTR_variant, intron_variant
rs114437563 likely-benign, Congenital ichthyosiform erythroderma 36,308,244(+) G/C 3_prime_UTR_variant, intron_variant
rs12197079 benign, not specified, Congenital ichthyosiform erythroderma 36,306,376(+) C/T coding_sequence_variant, missense_variant
rs12199580 benign, not specified, Congenital ichthyosiform erythroderma 36,302,353(+) C/A/T coding_sequence_variant, missense_variant
rs12214296 likely-benign, Congenital ichthyosiform erythroderma 36,308,223(+) A/C 3_prime_UTR_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for PNPLA1 Gene

Variant ID Type Subtype PubMed ID
esv33691 CNV gain+loss 17666407
esv3571006 CNV loss 25503493

Variation tolerance for PNPLA1 Gene

Residual Variation Intolerance Score: 80.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.21; 88.00% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PNPLA1 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PNPLA1 Gene

Disorders for PNPLA1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for PNPLA1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards


  • Ichthyosis, congenital, autosomal recessive 10 (ARCI10) [MIM:615024]: A form of autosomal recessive congenital ichthyosis, a disorder of keratinization with abnormal differentiation and desquamation of the epidermis, resulting in abnormal skin scaling over the whole body. The main skin phenotypes are lamellar ichthyosis (LI) and non-bullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur. Lamellar ichthyosis is a condition often associated with an embedment in a collodion-like membrane at birth; skin scales later develop, covering the entire body surface. Non-bullous congenital ichthyosiform erythroderma characterized by fine whitish scaling on an erythrodermal background; larger brownish scales are present on the buttocks, neck and legs. {ECO:0000269 PubMed:22246504}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for PNPLA1

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with PNPLA1: view

No data available for Genatlas for PNPLA1 Gene

Publications for PNPLA1 Gene

  1. Characterization of the human patatin-like phospholipase family. (PMID: 16799181) Wilson PA … Crowther DJ (Journal of lipid research 2006) 2 3 4 58
  2. PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans. (PMID: 22246504) Grall A … Fischer J (Nature genetics 2012) 3 4 58
  3. Mammalian patatin domain containing proteins: a family with diverse lipolytic activities involved in multiple biological functions. (PMID: 19029121) Kienesberger PC … Zechner R (Journal of lipid research 2009) 2 3 58
  4. Genetic variance in the adiponutrin gene family and childhood obesity. (PMID: 19390624) Johansson LE … Ridderstråle M (PloS one 2009) 3 44 58
  5. Genetic variants associated with arsenic susceptibility: study of purine nucleoside phosphorylase, arsenic (+3) methyltransferase, and glutathione S-transferase omega genes. (PMID: 18414634) De Chaudhuri S … Giri AK (Environmental health perspectives 2008) 3 44 58

Products for PNPLA1 Gene

Sources for PNPLA1 Gene

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