PNPLA4 patatin like phospholipase domain containing 4 [Homo sapiens (human)] - Gene

Summary

Official Symbol: PNPLA4provided by HGNC
Official Full Name: patatin like phospholipase domain containing 4provided by HGNC
Primary source: HGNC:HGNC:24887
See related: Ensembl:ENSG00000006757 MIM:300102; AllianceGenome:HGNC:24887
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: GS2; DXS1283E; iPLA2eta
Summary: This gene encodes a member of the patatin-like family of phospholipases. The encoded enzyme has both triacylglycerol lipase and transacylase activities and may be involved in adipocyte triglyceride homeostasis. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome Y. [provided by RefSeq, Feb 2010]
Expression: Ubiquitous expression in kidney (RPKM 9.2), thyroid (RPKM 8.6) and 25 other tissues See more
Orthologs: all
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Genomic context

Location:: Xp22.31

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (7898247..7927724, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (7451884..7481358, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (7866288..7895765, complement)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Association of copy number variation in X chromosome-linked PNPLA4 with heterotaxy and congenital heart disease.
Title: Association of copy number variation in X chromosome-linked PNPLA4 with heterotaxy and congenital heart disease.
These results strongly suggest that PNPLA9, -6 and -4 play a key role in GPL turnover and homeostasis in human cells. A hypothetical model suggesting how these enzymes could recognize the relative concentration of the different GPLs is proposed
Title: The PNPLA-family phospholipases involved in glycerophospholipid homeostasis of HeLa cells.
No association between genetic variants in PNPLA4 genes and childhood and adolescent obesity
Title: Genetic variance in the adiponutrin gene family and childhood obesity.
GS2 promotes RE accumulation and may do so either as a catalyst or as a regulatory protein that enhances retinylesters formation catalyzed by other acyl transferases.
Title: GS2 as a retinol transacylase and as a catalytic dyad independent regulator of retinylester accretion.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variance in the adiponutrin gene family and childhood obesity.
we report the identity of an inhibitor, TIP47, which prevents retinylester hydrolysis catalyzed by GS2 lipase and hormone-sensitive lipase
Title: Molecular screening for GS2 lipase regulators: inhibition of keratinocyte retinylester hydrolysis by TIP47.
iPLA2epsilon (adiponutrin), iPLA2zeta (TTS-2.2), and iPLA2eta (GS2) are three novel TAG lipases/acylglycerol transacylases that likely participate in TAG hydrolysis and the acyl-CoA independent transacylation of acylglycerols
Title: Identification, cloning, expression, and purification of three novel human calcium-independent phospholipase A2 family members possessing triacylglycerol lipase and acylglycerol transacylase activities.
The GS2 gene (PNPLA4) encodes a keratinocyte retinyl ester hydrolase. The protein also catalyzes fatty acyl CoA-dependent and -independent retinol esterification, using triolein as substrate and generates diacylglyceride and free fatty acid.
Title: Identification of a novel keratinocyte retinyl ester hydrolase as a transacylase and lipase.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

DXS1283E (e-PCR)
- UniSTS:148806

G15963 (e-PCR)
- UniSTS:29817

STS-U03886 (e-PCR)
- UniSTS:80796

DXS1283E (e-PCR)
- UniSTS:99228

DXS9745 (e-PCR)
- UniSTS:83402

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables acylglycerol O-acyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
enables all-trans-retinyl-palmitate hydrolase, all-trans-retinol forming activity	IEA Inferred from Electronic Annotation more info
enables calcium-dependent phospholipase A2 activity	IEA Inferred from Electronic Annotation more info
enables calcium-independent phospholipase A2 activity	IEA Inferred from Electronic Annotation more info
enables diolein transacylation activity	IDA Inferred from Direct Assay more info	PubMed
enables mono-olein transacylation activity	IDA Inferred from Direct Assay more info	PubMed
enables phospholipase A2 activity	IDA Inferred from Direct Assay more info	PubMed
enables retinyl-palmitate esterase activity	EXP Inferred from Experiment more info	PubMed
enables triacylglycerol lipase activity	EXP Inferred from Experiment more info	PubMed
enables triacylglycerol lipase activity	IBA Inferred from Biological aspect of Ancestor more info
enables triacylglycerol lipase activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in lipid homeostasis	IBA Inferred from Biological aspect of Ancestor more info
involved_in retinol metabolic process	IEA Inferred from Electronic Annotation more info
involved_in triglyceride catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in triglyceride catabolic process	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	TAS Traceable Author Statement more info
is_active_in lipid droplet	IBA Inferred from Biological aspect of Ancestor more info
is_active_in membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrion	HTP more info	PubMed
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: patatin-like phospholipase domain-containing protein 4

Names: IPLA2 eta; calcium independent phospholipases A2 eta; calcium-independent phospholipase A2-eta

NP_001135861.1

EC 3.1.1.3

EC 3.1.1.4

NP_001166143.1

EC 3.1.1.3

EC 3.1.1.4

NP_004641.1

EC 3.1.1.3

EC 3.1.1.4

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_016624.1 RefSeqGene

Range

5327..34493

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001142389.2 → NP_001135861.1 patatin-like phospholipase domain-containing protein 4 isoform 1

See identical proteins and their annotated locations for NP_001135861.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1 and 2 encode the same isoform (1).

Source sequence(s)

AC005296, BM850121, U03886

Consensus CDS

CCDS14129.1

UniProtKB/Swiss-Prot

A8K1H3, B4E362, P41247, Q8WW83

Related

ENSP00000415245.1, ENST00000444736.5

Conserved Domains (1) summary

cd07222
Location:5 → 250

Pat_PNPLA4; Patatin-like phospholipase domain containing protein 4
NM_001172672.2 → NP_001166143.1 patatin-like phospholipase domain-containing protein 4 isoform 2

See identical proteins and their annotated locations for NP_001166143.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus, compared to isoform 1.

Source sequence(s)

AC005296, AK304586, U03886

Consensus CDS

CCDS55368.1

UniProtKB/Swiss-Prot

P41247

Related

ENSP00000443157.1, ENST00000537427.5

Conserved Domains (1) summary

cl11396
Location:1 → 163

Patatin_and_cPLA2; Patatins and Phospholipases
NM_004650.3 → NP_004641.1 patatin-like phospholipase domain-containing protein 4 isoform 1

See identical proteins and their annotated locations for NP_004641.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1). Variants 1 and 2 encode the same isoform (1).

Source sequence(s)

AC005296, DB468796, U03886

Consensus CDS

CCDS14129.1

UniProtKB/Swiss-Prot

A8K1H3, B4E362, P41247, Q8WW83

Related

ENSP00000370430.4, ENST00000381042.9

Conserved Domains (1) summary

cd07222
Location:5 → 250

Pat_PNPLA4; Patatin-like phospholipase domain containing protein 4