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

    Gene ID: 8228, updated on 27-Nov-2024

    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
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    Genomic context

    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    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 PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    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)

    NEW Try the new Transcript table

    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_001142389.2NP_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:5250
      Pat_PNPLA4; Patatin-like phospholipase domain containing protein 4
    2. NM_001172672.2NP_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:1163
      Patatin_and_cPLA2; Patatins and Phospholipases
    3. NM_004650.3NP_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:5250
      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)