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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
    mouse all
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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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    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)

    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 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

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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