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PNPLA5 - patatin like phospholipase domain containing 5 Gene

Also Known as GS2L; dJ388M5; dJ388M5.4

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 150379

About PNPLA5

Cytogenetic location: 22q13.31 Genomic coordinates (GRCh38): 22:43,879,678-43,892,013 (from NCBI)

This gene has 3 transcripts (splice variants), 86 orthologues and 4 paralogues. Low expression observed in reference dataset.

Summary

This gene is a member of the patatin-like Phospholipase family; its encoded protein has been shown to inhibit transacylation. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Apr 2010]

PNPLA5 Products (3)

mRNA	Protein	Name
NM_001177675.2	NP_001171146.1	patatin-like phospholipase domain-containing protein 5 isoform 2
NM_001371410.1	NP_001358339.1	patatin-like phospholipase domain-containing protein 5 isoform 3
NM_138814.4	NP_620169.1	patatin-like phospholipase domain-containing protein 5 isoform 1

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA
enables triacylglycerol lipase activity	EXP EXP: Inferred from Experiment	17603008	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PNPLA5 Protein Structure

Patatin

0
100
200
300
400
429 a.a.

Protein Preferred Names	Protein Names
patatin-like phospholipase domain-containing protein 5	GS2-like protein

PNPLA5 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	PNPLA5	Q7Z6Z6	APPBP2	Homo sapiens	Q92624	Y2H Prey Pooling	32296183
Intra	PNPLA5	Q7Z6Z6	APPBP2	Homo sapiens	Q92624	Y2H Array	32296183
Intra	PNPLA5	Q7Z6Z6	APPBP2	Homo sapiens	Q92624	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Sea-Blue Histiocyte Disease	Sea-Blue Histiocytosis Sea-Blue Histiocyte Syndrome Histiocytosis, Sea-Blue Inherited Lipemic Splenomegaly SBHD
Cholesterol Ester Storage Disease
Apolipoprotein C-Iii Deficiency	Hyperalphalipoproteinemia 2 HALP2
Cat-Scratch Disease	Cat Scratch Disease Benign Lymphoreticulosis Cat Scratch Fever Debre'S Syndrome Bartonellosis Due To Bartonella Henselae Infection Debre-Mollaret Syndrome Foshay-Mollaret Cat Scratch Fever Oroya Fever Cat-Scratch Fever Benign Inoculation Lymphoreticulosis Catscratch Disease Or Fever Csd - [Cat Scratch Disease] Nonbacterial Regional Lymphadenitis Rochalimaea Henselae Infection
Spastic Paraplegia 39, Autosomal Recessive	SPG39 Ntemnd Hereditary Spastic Paraplegia 39 Nte-Related Motor Neuron Disorder Autosomal Recessive Spastic Paraplegia Type 39 Spastic Paraplegia Due To Neuropathy Target Esterase Mutation Spastic Paraplegia Due To Nte Mutation Spastic Paraplegia 39 Autosomal Recessive Spastic Paraplegia 39 Nte Related Motor Neuron Disorder Paraplegia, Spastic, Type 39
Lysosomal Acid Lipase Deficiency	Wolman Disease Cholesteryl Ester Storage Disease Lal Deficiency Lipa Deficiency Cholesterol Ester Storage Disease CESD Cholesterol Ester Hydrolase Deficiency Acid Lipase Deficiency Acid Esterase Deficiency Familial Xanthomatosis Wolman Xanthomatosis Wolman'S Disease Wolman'S Or Triglyceride Storage Type Iii Disease Xanthomatosis, Familial Liposomal Acid Lipase Deficiency, Wolman Type Familial Visceral Xanthomatosis Primary Familial Xanthomatosis Primary Familial Xanthomatosis With Adrenal Calcification Acid Lipase Disease WOD Acid Cholesteryl Ester Hydrolase Deficiency, Type 2
Lysosomal And Lipase Deficiency
Chanarin-Dorfman Syndrome	Neutral Lipid Storage Disease CDS Neutral Lipid Storage Disease With Ichthyosis Triglyceride Storage Disease With Impaired Long-Chain Fatty Acid Oxidation Triglyceride Storage Disease With Ichthyosis Nlsdi Ichthyotic Neutral Lipid Storage Disease Dorfman-Chanarin Syndrome Dcs Chanarin-Dorfman Disease Ichthyosiform Erythroderma With Leukocyte Vacuolation Lipidosis With Triglyceride Storage Disease Disorder Of Cornification 12 Dorfman Chanarin Syndrome Neutral Lipid Storage Disease With Ichthyotic Dorfman-Chanarin Disease
Familial Hypercholesterolemia	Hyperlipoproteinemia Type Iia Familial Hyperbetalipoproteinaemia Familial Hypercholesteremia Fredrickson Type Iia Hyperlipoproteinemia Fredrickson Type Iia Lipidaemia Hyperbetalipoproteinemia Type Ii Hyperlipidemia Familial Hypercholesterolæmia Familial Hypercholesterolaemia Fh Hypercholesterolemia Familial Hyperlipoproteinemia Type Ii Hypercholesterolemia, Familial

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10796	PNPLA5 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	PNPLA5	MGD	MGI:1923022
Canis familiaris	PNPLA5	VGNC	VGNC:44755
Bos taurus	PNPLA5	VGNC	VGNC:56226
Felis catus	PNPLA5	VGNC	VGNC:64266
Macaca mulatta	PNPLA5	VGNC	VGNC:76105
Rattus norvegicus	PNPLA5	RGD	RGD:1307495
Others	PNPLA5	NCBI