PNPLA7 - patatin like phospholipase domain containing 7 Gene

Also Known as NTEL1; NTE-R1; C9orf111

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 375775

About PNPLA7

Cytogenetic location: 9q34.3 Genomic coordinates (GRCh38): 9:137,459,952-137,550,402 (from NCBI)

This gene has 7 transcripts (splice variants), 281 orthologues and 1 paralogue. Ubiquitous expression in prostate (RPKM 6.3), skin (RPKM 4.2) and 24 other tissues.

Summary

Human patatin-like phospholipases, such as PNPLA7, have been implicated in regulation of adipocyte differentiation and have been induced by metabolic stimuli (Wilson et al., 2006 [PubMed 16799181]).[supplied by OMIM, Jun 2008]

PNPLA7 Products (2)

mRNA	Protein	Name
NM_001098537.3	NP_001092007.2	patatin-like phospholipase domain-containing protein 7 isoform a
NM_152286.5	NP_689499.4	patatin-like phospholipase domain-containing protein 7 isoform b

PNPLA7 Protein Structure

cNMP_binding

Patatin

0
300
600
900
1200
1317 a.a.

Protein Preferred Names	Protein Names
patatin-like phospholipase domain-containing protein 7

Related Diseases

Diseases	Alias
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
Oliver-Mcfarlane Syndrome	Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome OMCS Long Eyelashes-Intellectual Disability Syndrome Trichomegaly With Mental Retardation, Dwarfism, And Pigmentary Degeneration Of Retina Eyelashes, Long, With Mental Retardation Eyelashes Long Mental Retardation Trichomegaly With Intellectual Disability, Dwarfism And Pigmentary Degeneration Trichomegaly With Intellectual Disability, Dwarfism And Pigmentary Degeneration Of Retina Eyelashes, Long With Intellectual Disability Oliver Mcfarlane Syndrome Congenital Trichomegaly, Pigmentary Retinal Degeneration, And Short Stature Trichomegaly, Retina Pigmentary Degeneration, Dwarfism Trichomegaly Retina Pigmentary Degeneration Dwarfism
Charcot-Marie-Tooth Disease, Axonal, Type 2p	CMT2P Charcot-Marie-Tooth Disease Axonal Type 2p Charcot-Marie-Tooth Disease Type 2p Charcot-Marie-Tooth Neuropathy, Type 2p Charcot-Marie-Tooth Disease, Axonal, Type 2g, Formerly Cmt2g, Formerly Charcot-Marie-Tooth Neuropathy Type 2p Charcot-Marie-Toothe Disease, Axonal, Type 2p Charcot-Marie-Tooth Disease 2p Charcot-Marie-Tooth Disease, Axonal Type 2g Charcot-Marie-Tooth Neuropathy Axonal Type 2p Cmt2g Charcot-Marie-Tooth Disease, Type 2p Charcot-Marie-Tooth Disease, Axonal, Type 2g
Li-Fraumeni Syndrome 1	Lfs1
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

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-RS10798	PNPLA7 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	PNPLA7	VGNC	VGNC:64268
Mus musculus	PNPLA7	MGD	MGI:2385325
Macaca mulatta	PNPLA7	VGNC	VGNC:76104
Bos taurus	PNPLA7	VGNC	VGNC:33094
Canis familiaris	PNPLA7	VGNC	VGNC:44757
Rattus norvegicus	PNPLA7	RGD	RGD:708466
Others	PNPLA7	NCBI