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Tbio
PNPLA1
Patatin-like phospholipase domain-containing protein 1

Protein Summary
Description
Lipid hydrolase. Important in the formation of the epidermal lipid barrier. Plays a role in glycerophospholipid metabolism. 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]
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000312917
  • ENSP00000321116
  • ENSG00000180316
  • ENST00000388715
  • ENSP00000373367
  • ENST00000394571
  • ENSP00000378072

Symbol
  • ARCI10
  • dJ50J22.1
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
microRNA
0.47
tissue
0.47
cell line
0.43
transcription factor
0.42
phenotype
0.41


IDG Development Level Summary
Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 32.73   (req: < 5)
Gene RIFs: 17   (req: <= 3)
Antibodies: 120   (req: <= 50)
Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 32.73   (req: >= 5)
Gene RIFs: 17   (req: > 3)
Antibodies: 120   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 3
Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0
Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0
Protein Sequence and Structure
Residue Counts
Protein Sequence
ProtVista Viewer
Expression Data (0 Tissues)
No expression data found
Related Tools
Target Illumination GWAS Analytics (TIGA)
Thumbnail image for Target Illumination GWAS Analytics (TIGA)
TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GENEVA
Thumbnail image for GENEVA
GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.
GlyGen
Thumbnail image for GlyGen
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
ARCHS4
Thumbnail image for ARCHS4
ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.
Approved Drugs (0)
No approved drugs found
Active Ligands (0)
No active ligands found
Protein-Protein Interactions (44)
UBAC1
Tbio
Novelty:  0.00122518
p_int:  0.978023633
p_ni:  0.021975796
p_wrong:  5.72e-7
Score:  0.307
Data Source:  BioPlex,STRINGDB
RNF123
Tbio
Family:  Enzyme
Novelty:  0.01872044
p_int:  0.957644488
p_ni:  0.042355512
Score:  0.546
Data Source:  BioPlex,STRINGDB
TXNDC9
Tbio
Novelty:  0.00309772
p_int:  0.926109272
p_ni:  0.073890727
Score:  0.723
Data Source:  BioPlex,STRINGDB
UBR4
Tbio
Family:  Enzyme
Novelty:  0.03924839
p_int:  0.896833664
p_ni:  0.103166336
Data Source:  BioPlex
HBB
Tbio
Novelty:  0.00049683
p_int:  0.889967891
p_ni:  0.076159103
p_wrong:  0.033873006
Score:  0.165
Data Source:  BioPlex,STRINGDB
NIF3L1
Tbio
Novelty:  0.15581813
p_int:  0.869815996
p_ni:  0.130184004
p_wrong:  1e-9
Score:  0.177
Data Source:  BioPlex,STRINGDB
TCP1
Tbio
Novelty:  0.00395241
p_int:  0.863034433
p_ni:  0.136965567
Data Source:  BioPlex
CCT6B
Tdark
Novelty:  0.28933315
p_int:  0.859859175
p_ni:  0.140140825
Score:  0.183
Data Source:  BioPlex,STRINGDB
BIRC6
Tbio
Novelty:  0.01187953
p_int:  0.857400765
p_ni:  0.142599235
Data Source:  BioPlex
ANKRD40
Tdark
Novelty:  1.06633958
p_int:  0.857127027
p_ni:  0.142872973
Data Source:  BioPlex
Nearest Tclin Targets
Nearest Tclin calculations are only available for targets with KEGG Pathway annotations.
Pathways (0)
No pathways found
Viral Interactions (0)
No viral interactions found
Disease Associations ()
No disease associations found
GWAS Traits (10)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
2
2
0
1.1
83.2
mean platelet volume
1
1
1
78.9
platelet count
2
2
1
5
61.8
leukocyte count
1
1
1
38.2
1
1
2
33.1
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
0
1.1
83.2
mean platelet volume
1
78.9
platelet count
1
5
61.8
leukocyte count
1
38.2
2
33.1
Find similar targets by:
IDG Resources
No IDG generated resources found
Orthologs (8)
1 – 5 of 8
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Chimp
patatin like phospholipase domain containing 1
VGNC:3669
471991
Mouse
MGI:3617850
433091
Rat
RGD:1306685
361812
Dog
patatin like phospholipase domain containing 1
VGNC:44752
481763
Horse
patatin like phospholipase domain containing 1
VGNC:21633
100063661
Species
Name
OMA
EggNOG
Inparanoid
Chimp
patatin like phospholipase domain containing 1
Mouse
Rat
Dog
patatin like phospholipase domain containing 1
Horse
patatin like phospholipase domain containing 1
Publication Statistics
PubMed Score 32.73
PubMed score by year
PubTator Score 15.03
PubTator score by year
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Related Publications
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PMID
Year
Title