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PLA2G6 phospholipase A2, group VI (cytosolic, calcium-independent) [ Homo sapiens (human) ]

Gene ID: 8398, updated on 19-Jul-2014
Official Symbol
PLA2G6provided by HGNC
Official Full Name
phospholipase A2, group VI (cytosolic, calcium-independent)provided by HGNC
Primary source
HGNC:9039
Locus tag
CTA-228A9.2
See related
Ensembl:ENSG00000184381; HPRD:04675; MIM:603604; Vega:OTTHUMG00000151246
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
GVI; PLA2; INAD1; NBIA2; iPLA2; NBIA2A; NBIA2B; PARK14; PNPLA9; CaI-PLA2; IPLA2-VIA; iPLA2beta
Summary
The protein encoded by this gene is an A2 phospholipase, a class of enzyme that catalyzes the release of fatty acids from phospholipids. The encoded protein may play a role in phospholipid remodelling, arachidonic acid release, leukotriene and prostaglandin synthesis, fas-mediated apoptosis, and transmembrane ion flux in glucose-stimulated B-cells. Several transcript variants encoding multiple isoforms have been described, but the full-length nature of only three of them have been determined to date. [provided by RefSeq, Dec 2010]
See PLA2G6 in Epigenomics, MapViewer
Location:
22q13.1
Exon count :
21
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 22 NC_000022.11 (38111495..38192051, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (38507502..38577857, complement)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101927119 Neighboring gene solute carrier family 16 (monocarboxylate transporter), member 8 Neighboring gene BAI1-associated protein 2-like 2 Neighboring gene v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog F Neighboring gene transmembrane protein 184B

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
Biological, clinical and population relevance of 95 loci for blood lipids.
NHGRI GWA Catalog
Discovery and refinement of loci associated with lipid levels.
NHGRI GWA Catalog
Genome-wide association study identifies nidogen 1 (NID1) as a susceptibility locus to cutaneous nevi and melanoma risk.
NHGRI GWA Catalog
Genome-wide association study identifies three loci associated with melanoma risk.
NHGRI GWA Catalog
Genome-wide association study identifies three new melanoma susceptibility loci.
NHGRI GWA Catalog
Genome-wide association study identifies variants at 9p21 and 22q13 associated with development of cutaneous nevi.
NHGRI GWA Catalog

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env HIV-1 gp120 causes an activation of phospholipase A2, resulting in the increased release of arachidonic acid, which may sensitize the NMDA receptor PubMed
env HIV-1 gp120 induces a specific phospholipase A2 (PLA2) activation in lymphocytes through binding to CD4, but this effect is not sufficient to accomplish virus/cell fusion PubMed

Go to the HIV-1, Human Protein Interaction Database

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP-dependent protein binding IEA
Inferred from Electronic Annotation
more info
 
calcium-independent phospholipase A2 activity IEA
Inferred from Electronic Annotation
more info
 
calmodulin binding IEA
Inferred from Electronic Annotation
more info
 
phospholipase A2 activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
Fc-gamma receptor signaling pathway involved in phagocytosis TAS
Traceable Author Statement
more info
 
cardiolipin acyl-chain remodeling TAS
Traceable Author Statement
more info
 
cardiolipin biosynthetic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
cell death IEA
Inferred from Electronic Annotation
more info
 
chemotaxis IEA
Inferred from Electronic Annotation
more info
 
glycerophospholipid biosynthetic process TAS
Traceable Author Statement
more info
 
innate immune response TAS
Traceable Author Statement
more info
 
lipid catabolic process IEA
Inferred from Electronic Annotation
more info
 
maternal process involved in female pregnancy IEA
Inferred from Electronic Annotation
more info
 
memory IEA
Inferred from Electronic Annotation
more info
 
negative regulation of synaptic transmission, glutamatergic IEA
Inferred from Electronic Annotation
more info
 
phosphatidylcholine acyl-chain remodeling TAS
Traceable Author Statement
more info
 
phosphatidylethanolamine acyl-chain remodeling TAS
Traceable Author Statement
more info
 
phospholipid metabolic process TAS
Traceable Author Statement
more info
 
positive regulation of arachidonic acid secretion IEA
Inferred from Electronic Annotation
more info
 
positive regulation of ceramide biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
positive regulation of cytosolic calcium ion concentration IEA
Inferred from Electronic Annotation
more info
 
positive regulation of exocytosis IEA
Inferred from Electronic Annotation
more info
 
positive regulation of insulin secretion involved in cellular response to glucose stimulus IEA
Inferred from Electronic Annotation
more info
 
positive regulation of protein kinase C signaling IEA
Inferred from Electronic Annotation
more info
 
positive regulation of protein phosphorylation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of release of cytochrome c from mitochondria IEA
Inferred from Electronic Annotation
more info
 
positive regulation of vasodilation IEA
Inferred from Electronic Annotation
more info
 
regulation of store-operated calcium channel activity IEA
Inferred from Electronic Annotation
more info
 
response to endoplasmic reticulum stress IEA
Inferred from Electronic Annotation
more info
 
small molecule metabolic process TAS
Traceable Author Statement
more info
 
urinary bladder smooth muscle contraction IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 
membrane IEA
Inferred from Electronic Annotation
more info
 
mitochondrion IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
85/88 kDa calcium-independent phospholipase A2
Names
85/88 kDa calcium-independent phospholipase A2
GVI PLA2
iPLA2-beta
group VI phospholipase A2
calcium-independent phospholipase A2
85 kDa calcium-independent phospholipase A2
patatin-like phospholipase domain containing 9
cytosolic, calcium-independent phospholipase A2
neurodegeneration with brain iron accumulation 2
patatin-like phospholipase domain-containing protein 9
intracellular membrane-associated calcium-independent phospholipase A2 beta
NP_001004426.1
NP_001186491.1
NP_003551.2

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_007094.1 

    Range
    4926..75260
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001004426.1NP_001004426.1  85/88 kDa calcium-independent phospholipase A2 isoform b

    See proteins identical to NP_001004426.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an in-frame exon compared to variant 1. The resulting isoform (b) has the same N- and C-termini but lacks an internal segment compared to isoform a. Variants 2 and 3 both encode the same isoform (b). Isoform b is found in the cytoplasm while isoform a is membrane-bound.
    Source sequence(s)
    AF064594, BC036742, BC051904
    Consensus CDS
    CCDS33645.1
    UniProtKB/Swiss-Prot
    O60733
    Related
    ENSP00000335149, ENST00000335539
    Conserved Domains (3) summary
    cd07212
    Location:426739
    Blast Score: 1435
    Pat_PNPLA9; Patatin-like phospholipase domain containing protein 9
    cd00204
    Location:214370
    Blast Score: 309
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    pfam12796
    Location:291380
    Blast Score: 218
    Ank_2; Ankyrin repeats (3 copies)
  2. NM_001199562.1NP_001186491.1  85/88 kDa calcium-independent phospholipase A2 isoform b

    See proteins identical to NP_001186491.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and lacks an in-frame exon compared to variant 1. The resulting isoform (b) has the same N- and C-termini but lacks an internal segment compared to isoform a. Variants 2 and 3 both encode the same isoform (b). Isoform b is found in the cytoplasm while isoform a is membrane-bound.
    Source sequence(s)
    AF064594, AK290825, BC051904
    Consensus CDS
    CCDS33645.1
    UniProtKB/TrEMBL
    A8K460
    UniProtKB/Swiss-Prot
    O60733
    Related
    ENSP00000386100, OTTHUMP00000199457, ENST00000402064, OTTHUMT00000321861
    Conserved Domains (3) summary
    cd07212
    Location:426739
    Blast Score: 1435
    Pat_PNPLA9; Patatin-like phospholipase domain containing protein 9
    cd00204
    Location:214370
    Blast Score: 309
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    pfam12796
    Location:291380
    Blast Score: 218
    Ank_2; Ankyrin repeats (3 copies)
  3. NM_003560.2NP_003551.2  85/88 kDa calcium-independent phospholipase A2 isoform a

    See proteins identical to NP_003551.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a). Isoform a is membrane-bound while isoform b is found in the cytoplasm.
    Source sequence(s)
    AF064594, BC036742, BC051904
    Consensus CDS
    CCDS13967.1
    UniProtKB/Swiss-Prot
    O60733
    Related
    ENSP00000333142, OTTHUMP00000199456, ENST00000332509, OTTHUMT00000321860
    Conserved Domains (3) summary
    cd07212
    Location:480793
    Blast Score: 1435
    Pat_PNPLA9; Patatin-like phospholipase domain containing protein 9
    cd00204
    Location:285403
    Blast Score: 313
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    pfam12796
    Location:291380
    Blast Score: 218
    Ank_2; Ankyrin repeats (3 copies)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000022.11 

    Range
    38111495..38192051
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006724332.1XP_006724395.1  

    See proteins identical to XP_006724395.1

    UniProtKB/Swiss-Prot
    O60733
    Conserved Domains (3) summary
    cd07212
    Location:480793
    Blast Score: 1435
    Pat_PNPLA9; Patatin-like phospholipase domain containing protein 9
    cd00204
    Location:285403
    Blast Score: 313
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    pfam12796
    Location:291380
    Blast Score: 218
    Ank_2; Ankyrin repeats (3 copies)
  2. XM_005261765.1XP_005261822.1  

    See proteins identical to XP_005261822.1

    UniProtKB/Swiss-Prot
    O60733
    Conserved Domains (3) summary
    cd07212
    Location:480793
    Blast Score: 1435
    Pat_PNPLA9; Patatin-like phospholipase domain containing protein 9
    cd00204
    Location:285403
    Blast Score: 313
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    pfam12796
    Location:291380
    Blast Score: 218
    Ank_2; Ankyrin repeats (3 copies)
  3. XM_005261764.1XP_005261821.1  

    See proteins identical to XP_005261821.1

    UniProtKB/Swiss-Prot
    O60733
    Conserved Domains (3) summary
    cd07212
    Location:480793
    Blast Score: 1435
    Pat_PNPLA9; Patatin-like phospholipase domain containing protein 9
    cd00204
    Location:285403
    Blast Score: 313
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    pfam12796
    Location:291380
    Blast Score: 218
    Ank_2; Ankyrin repeats (3 copies)
  4. XM_005261766.1XP_005261823.1  

    See proteins identical to XP_005261823.1

    UniProtKB/Swiss-Prot
    O60733
    Conserved Domains (3) summary
    cd07212
    Location:480793
    Blast Score: 1435
    Pat_PNPLA9; Patatin-like phospholipase domain containing protein 9
    cd00204
    Location:285403
    Blast Score: 313
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    pfam12796
    Location:291380
    Blast Score: 218
    Ank_2; Ankyrin repeats (3 copies)
  5. XM_005261771.2XP_005261828.1  

    Conserved Domains (2) summary
    cd00204
    Location:285403
    Blast Score: 306
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    pfam12796
    Location:291380
    Blast Score: 213
    Ank_2; Ankyrin repeats (3 copies)

RNA

  1. XR_430411.1 RNA Sequence

  2. XR_244390.1 RNA Sequence

  3. XR_244392.1 RNA Sequence

  4. XR_430412.1 RNA Sequence

Alternate HuRef

Genomic

  1. AC_000154.1 

    Range
    21473858..21543900
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018933.2 

    Range
    38466463..38536813
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

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