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

Gene ID: 150379, updated on 13-May-2022

Summary

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

See PNPLA5 in Genome Data Viewer
Location:
22q13.31
Exon count:
9
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (43879678..43892013, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (44362256..44374585, complement)
105.20220307 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 uncharacterized LOC105373058 Neighboring gene sulfotransferase family 4A member 1 Neighboring gene Sharpr-MPRA regulatory region 15126 Neighboring gene patatin like phospholipase domain containing 3 Neighboring gene Sharpr-MPRA regulatory region 5125 Neighboring gene ribosomal protein L35a pseudogene 36 Neighboring gene SAMM50 sorting and assembly machinery component

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?

Phenotypes

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables triglyceride lipase activity EXP
Inferred from Experiment
more info
PubMed 
enables triglyceride lipase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
involved_in lipid homeostasis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 

General protein information

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

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_001177675.2NP_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:1291
    Patatin_and_cPLA2; Patatins and Phospholipases
  2. NM_001371410.1NP_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:39265
    Patatin_and_cPLA2; Patatins and Phospholipases
  3. NM_138814.4NP_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
    Q7Z6Z6
    Related
    ENSP00000216177.3, ENST00000216177.9
    Conserved Domains (1) summary
    cd07223
    Location:1405
    Pat_PNPLA5-mammals; Patatin-like phospholipase domain containing protein 5

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_000022.11 Reference GRCh38.p14 Primary Assembly

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

mRNA and Protein(s)

  1. XM_047441164.1XP_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)