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

Gene ID: 8228, updated on 2-Nov-2024

Summary

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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

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See PNPLA4 in Genome Data Viewer
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_000023.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124905241 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chrX:7682068-7682794 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chrX:7682795-7683521 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chrX:7889540-7890739 Neighboring gene Sharpr-MPRA regulatory region 9499 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29394 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29396 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29395 Neighboring gene uncharacterized LOC107985675 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29393 Neighboring gene variable charge X-linked Neighboring gene Sharpr-MPRA regulatory region 2843 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chrX:8073020-8073627 Neighboring gene S232-VCX2 recombination region Neighboring gene microRNA 651 Neighboring gene variable charge X-linked 2

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues 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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Related articles in PubMed

  1. GS2 as a retinol transacylase and as a catalytic dyad independent regulator of retinylester accretion. Gao JG, et al. Mol Genet Metab, 2009 Apr. PMID 19181555
  2. Isolation of a new gene GS2 (DXS1283E) from a CpG island between STS and KAL1 on Xp22.3. Lee WC, et al. Genomics, 1994 Jul 15. PMID 7806223
  3. Association of copy number variation in X chromosome-linked PNPLA4 with heterotaxy and congenital heart disease. Gao H, et al. Chin Med J (Engl), 2024 Aug 5. PMID 38973237
  4. A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies. Kohda M, et al. PLoS Genet, 2016 Jan. PMID 26741492, Free PMC Article
  5. Identification of a novel keratinocyte retinyl ester hydrolase as a transacylase and lipase. Gao J, et al. J Invest Dermatol, 2005 Jun. PMID 15955102

See all (25) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. No association between genetic variants in PNPLA4 genes and childhood and adolescent obesity
    Title: Genetic variance in the adiponutrin gene family and childhood obesity.
  4. 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.
  5. Observational study of gene-disease association. (HuGE Navigator)
    Title: Genetic variance in the adiponutrin gene family and childhood obesity.
  6. 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.
  7. 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.
  8. 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.
Submit: New GeneRIF Correction

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)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

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 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 biological_process ND
No biological Data available
more info
  
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 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
NP_001166143.1
NP_004641.1

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

  1. NG_016624.1 RefSeqGene

    Range
    5327..34493
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. 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

  2. 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

  3. 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

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

    Range
    7898247..7927724 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060947.1 Alternate T2T-CHM13v2.0

    Range
    7451884..7481358 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P41247.3 GenPept UniProtKB/Swiss-Prot:P41247

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