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

Gene ID: 8228, updated on 5-Aug-2022

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
110 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (7898247..7927724, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (7451884..7481358, complement)
105.20220307 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 uncharacterized LOC107985675 Neighboring gene variable charge X-linked Neighboring gene Sharpr-MPRA regulatory region 2843 Neighboring gene microRNA 651

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

Homology

Gene Ontology Provided by GOA

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
PubMed 
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
PubMed 
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
PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
 
is_active_in lipid droplet IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
is_active_in membrane IBA
Inferred from Biological aspect of Ancestor
more info
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
XP_011543890.1

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_001142389.2NP_001135861.1  patatin-like phospholipase domain-containing protein 4 isoform 1 precursor

    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
    P41247, Q8WW83
    UniProtKB/TrEMBL
    A0A024RBU8
    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 precursor

    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
    P41247, Q8WW83
    UniProtKB/TrEMBL
    A0A024RBU8
    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: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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)

mRNA and Protein(s)

  1. XM_011545588.2XP_011543890.1  patatin-like phospholipase domain-containing protein 4 isoform X1

    See identical proteins and their annotated locations for XP_011543890.1

    UniProtKB/Swiss-Prot
    P41247, Q8WW83
    UniProtKB/TrEMBL
    A0A024RBU8
    Conserved Domains (1) summary
    cd07222
    Location:5250
    Pat_PNPLA4; Patatin-like phospholipase domain containing protein 4

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060947.1 Alternate T2T-CHM13v2.0

    Range
    7451884..7481358 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)