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PNPLA5 patatin like phospholipase domain containing 5 [ Homo sapiens (human) ]

Gene ID: 150379, updated on 2-Nov-2024

Summary

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Official Symbol
PNPLA5provided by HGNC
Official Full Name
patatin like phospholipase domain containing 5provided by HGNC
Primary source
HGNC:HGNC:24888
See related
Ensembl:ENSG00000100341 MIM:611589; AllianceGenome:HGNC:24888
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
GS2L; dJ388M5; dJ388M5.4
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]
Expression
Low expression observed in reference dataset See more
Orthologs
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Genomic context

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See PNPLA5 in Genome Data Viewer
Location:
22q13.31
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (43879678..43892013, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (44362256..44374585, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (44275558..44287893, complement)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19191 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:44208791-44209592 Neighboring gene EFCAB6 divergent transcript Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:44215896-44216537 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:44223866-44224628 Neighboring gene sulfotransferase family 4A member 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:44240991-44241816 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:44247635-44248134 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:44256209-44256708 Neighboring gene Sharpr-MPRA regulatory region 15126 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:44279103-44279833 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr22:44293320-44294519 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:44301043-44301543 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:44317583-44318083 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:44319500-44320244 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:44320245-44320987 Neighboring gene patatin like phospholipase domain containing 3 Neighboring gene Sharpr-MPRA regulatory region 5125 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:44347552-44347721 Neighboring gene H3K27ac hESC enhancers GRCh37_chr22:44350547-44351299 and GRCh37_chr22:44351300-44352051 Neighboring gene ribosomal protein L35a pseudogene 36 Neighboring gene SAMM50 sorting and assembly machinery component

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. Neutral lipid stores and lipase PNPLA5 contribute to autophagosome biogenesis. Dupont N, et al. Curr Biol, 2014 Mar 17. PMID 24613307, Free PMC Article
  2. Genetic variance in the adiponutrin gene family and childhood obesity. Johansson LE, et al. PLoS One, 2009. PMID 19390624, Free PMC Article
  3. Genome wide association study of SNP-, gene-, and pathway-based approaches to identify genes influencing susceptibility to Staphylococcus aureus infections. Ye Z, et al. Front Genet, 2014. PMID 24847357, Free PMC Article
  4. A comparative study of human GS2, its paralogues, and its rat orthologue. Gao JG, et al. Biochem Biophys Res Commun, 2007 Aug 24. PMID 17603008
  5. Mammalian patatin domain containing proteins: a family with diverse lipolytic activities involved in multiple biological functions. Kienesberger PC, et al. J Lipid Res, 2009 Apr. PMID 19029121, Free PMC Article

See all (14) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. required for optimal autophagy initiation
    Title: Neutral lipid stores and lipase PNPLA5 contribute to autophagosome biogenesis.
  2. No association between genetic variants in PNPLA5 genes and childhood and adolescent obesity
    Title: Genetic variance in the adiponutrin gene family and childhood obesity.
  3. Observational study of gene-disease association. (HuGE Navigator)
    Title: Genetic variance in the adiponutrin gene family and childhood obesity.
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

EBI GWAS Catalog

Description
Genome wide association study of SNP-, gene-, and pathway-based approaches to identify genes influencing susceptibility to Staphylococcus aureus infections.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

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 protein binding IPI
Inferred from Physical Interaction
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
  
Process Evidence Code Pubs
involved_in lipid homeostasis IBA
Inferred from Biological aspect of Ancestor
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
  

General protein information

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Preferred Names
patatin-like phospholipase domain-containing protein 5
Names
GS2-like protein
NP_001171146.1
NP_001358339.1
NP_620169.1
XP_047297120.1
XP_054181159.1

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.

mRNA and Protein(s)

  1. NM_001177675.2 → NP_001171146.1  patatin-like phospholipase domain-containing protein 5 isoform 2

    See identical proteins and their annotated locations for NP_001171146.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) has multiple differences in the coding region but maintains the reading frame, compared to variant 1. This variant encodes isoform 2, which is shorter than isoform 1.
    Source sequence(s)
    AK127172, BC031820, Z97055
    Consensus CDS
    CCDS54537.1
    UniProtKB/Swiss-Prot
    Q7Z6Z6
    Related
    ENSP00000370595.2, ENST00000381198.7
    Conserved Domains (1) summary
    cl11396
    Location:1 → 291
    Patatin_and_cPLA2; Patatins and Phospholipases

  2. NM_001371410.1 → NP_001358339.1  patatin-like phospholipase domain-containing protein 5 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AK127172, BC031820, BC143696, Z97055
    Conserved Domains (1) summary
    cl11396
    Location:39 → 265
    Patatin_and_cPLA2; Patatins and Phospholipases

  3. NM_138814.4 → NP_620169.1  patatin-like phospholipase domain-containing protein 5 isoform 1

    See identical proteins and their annotated locations for NP_620169.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AK127172, BC031820
    Consensus CDS
    CCDS14053.1
    UniProtKB/Swiss-Prot
    B1AHL8, B3KPR1, Q6ZST0, Q7Z6Z6
    Related
    ENSP00000216177.3, ENST00000216177.9
    Conserved Domains (1) summary
    cd07223
    Location:1 → 405
    Pat_PNPLA5-mammals; Patatin-like phospholipase domain containing protein 5

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_000022.11 Reference GRCh38.p14 Primary Assembly

    Range
    43879678..43892013 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047441164.1 → XP_047297120.1  patatin-like phospholipase domain-containing protein 5 isoform X1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060946.1 Alternate T2T-CHM13v2.0

    Range
    44362256..44374585 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054325184.1 → XP_054181159.1  patatin-like phospholipase domain-containing protein 5 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q7Z6Z6.1 GenPept UniProtKB/Swiss-Prot:Q7Z6Z6

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