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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 1 2 3
  • 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

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 autosomal recessive congenital ichthyosis. GO annotations related to this gene include hydrolase activity. An important paralog of this gene is PNPLA4.

UniProtKB/Swiss-Prot for PNPLA1 Gene

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

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

Genomics for PNPLA1 Gene

Regulatory Elements for PNPLA1 Gene

Genomic Location for PNPLA1 Gene

Chromosome:
6
Start:
36,239,766 bp from pter
End:
36,313,955 bp from pter
Size:
74,190 bases
Orientation:
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:
    Q8N8W4-PLPL1_HUMAN
    Recommended name:
    Patatin-like phospholipase domain-containing protein 1
    Protein Accession:
    Q8N8W4
    Secondary Accessions:
    • A3RMU3
    • J3JS20
    • Q2A6N1
    • Q3SY95
    • Q3SY96
    • Q5R3L2

    Protein attributes for PNPLA1 Gene

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

    Alternative splice isoforms for PNPLA1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PNPLA1 Gene

Proteomics data for PNPLA1 Gene at MOPED

Post-translational modifications for PNPLA1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PNPLA1 Gene

No data available for DME Specific Peptides for PNPLA1 Gene

Domains & Families for PNPLA1 Gene

Gene Families for PNPLA1 Gene

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

Q8N8W4

UniProtKB/Swiss-Prot:

PLPL1_HUMAN :
  • Contains 1 patatin domain.
Domain:
  • Contains 1 patatin domain.
genes like me logo Genes that share domains with PNPLA1: view

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

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

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Gene Ontology (GO) - Molecular Function , 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

COMPARTMENTS
Jensen Localization Image for PNPLA1 Gene COMPARTMENTS Subcellular localization image for PNPLA1 gene
Compartment Confidence
cytoskeleton 3
cytosol 1
endoplasmic reticulum 1
golgi apparatus 1
mitochondrion 1
nucleus 1
peroxisome 1
plasma membrane 1

No data available for Gene Ontology (GO) - Cellular Components for PNPLA1 Gene

Pathways & Interactions for PNPLA1 Gene

SuperPathways for PNPLA1 Gene

No Data Available

Interacting Proteins for PNPLA1 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000378072%0d%0a9606.ENSP00000262056%0d%0a
Selected Interacting proteins: ENSP00000378072 for PNPLA1 Gene via STRING

Symbol External ID(s) Details
EIF4B

Gene Ontology (GO) - Biological Process for PNPLA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008152 metabolic process IEA --
GO:0016042 lipid catabolic process IEA --
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

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

Unigene Clusters for PNPLA1 Gene

Patatin-like phospholipase domain containing 1:
Representative Sequences:

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

No ASD Table

Relevant External Links for PNPLA1 Gene

GeneLoc Exon Structure for
PNPLA1
ECgene alternative splicing isoforms for
PNPLA1

Expression for PNPLA1 Gene

mRNA expression in normal human tissues 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



SOURCE GeneReport for Unigene cluster for PNPLA1 Gene Hs.407002

mRNA Expression by UniProt/SwissProt for PNPLA1 Gene

Q8N8W4-PLPL1_HUMAN
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.
genes like me logo Genes that share expression patterns with PNPLA1: view

Primer Products

In Situ Assay Products

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
cow
(Bos Taurus)
Mammalia PNPLA1 35
  • 84.78 (n)
  • 79.88 (a)
PNPLA1 36
  • 80 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PNPLA1 35
  • 83.2 (n)
  • 79.73 (a)
PNPLA1 36
  • 79 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pnpla1 35
  • 72.02 (n)
  • 68.45 (a)
Pnpla1 16
Pnpla1 36
  • 57 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PNPLA1 35
  • 99.19 (n)
  • 98.87 (a)
PNPLA1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pnpla1 35
  • 69.37 (n)
  • 65.66 (a)
oppossum
(Monodelphis domestica)
Mammalia PNPLA1 36
  • 55 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PNPLA1 36
  • 55 (a)
OneToOne
chicken
(Gallus gallus)
Aves PNPLA1 35
  • 63.66 (n)
  • 55.69 (a)
-- 36
  • 38 (a)
OneToMany
-- 36
  • 54 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 45 (a)
OneToMany
-- 36
  • 43 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100497390 35
  • 55.56 (n)
  • 46.12 (a)
zebrafish
(Danio rerio)
Actinopterygii CABZ01030033.1 36
  • 16 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta bmm 36
  • 21 (a)
ManyToMany
dob 36
  • 23 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea C05D11.7 36
  • 16 (a)
OneToMany
Species with no ortholog for PNPLA1:
  • 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

ENSEMBL:
Gene Tree for PNPLA1 (if available)
TreeFam:
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 Sequence Context AA Info Type
rs12199580 - 36,302,353(+) TTCAC(A/C)CAGGC intron-variant, reference, missense
rs12197079 - 36,306,376(+) TGTAA(C/T)GTAAG reference, synonymous-codon, missense
rs4713956 - 36,307,681(+) GACAT(C/T)CGGGA reference, missense, utr-variant-3-prime
VAR_069566 Ichthyosis, congenital, autosomal recessive 10 (ARCI10)
rs732393 -- 36,301,571(+) CACTG(C/G)CAATC intron-variant

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

Variant ID Type Subtype PubMed ID
esv33691 CNV Gain+Loss 17666407

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)

Relevant External Links for PNPLA1 Gene

HapMap Linkage Disequilibrium report
PNPLA1
Human Gene Mutation Database (HGMD)
PNPLA1

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: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

PLPL1_HUMAN
  • 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.

Relevant External Links for PNPLA1

Genetic Association Database (GAD)
PNPLA1
Human Genome Epidemiology (HuGE) Navigator
PNPLA1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PNPLA1
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 P.A. … Crowther D.J. (J. Lipid Res. 2006) 2 3 4 67
  2. Mammalian patatin domain containing proteins: a family with diverse lipolytic activities involved in multiple biological functions. (PMID: 19029121) Kienesberger P.C. … Zechner R. (J. Lipid Res. 2009) 2 3
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  4. Identification of human patatin-like phospholipase domain-containing protein 1 and a mutant in human cervical cancer HeLa cells. (PMID: 24057234) Chang P.A. … Wu Y.J. (Mol. Biol. Rep. 2013) 3
  5. Identification of a novel PNPLA1 mutation in a Spanish family with autosomal recessive congenital ichthyosis. (PMID: 24344921) Fachal L. … Vega A. (Br. J. Dermatol. 2013) 3

Products for PNPLA1 Gene

Sources for PNPLA1 Gene

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