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PNPLA8 patatin like phospholipase domain containing 8 [ Homo sapiens (human) ]

Gene ID: 50640, updated on 4-May-2020

Summary

Official Symbol
PNPLA8provided by HGNC
Official Full Name
patatin like phospholipase domain containing 8provided by HGNC
Primary source
HGNC:HGNC:28900
See related
Ensembl:ENSG00000135241 MIM:612123
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
MMLA; IPLA2G; IPLA2-2; iPLA2gamma; PNPLA-gamma
Summary
This gene encodes a member of the patatin-like phospholipase domain containing protein family. Members of this family are phospholipases which catalyze the cleavage of fatty acids from membrane phospholipids. The product of this gene is a calcium-independent phospholipase. Mutations in this gene have been associated with mitochondrial myopathy with lactic acidosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2015]
Expression
Ubiquitous expression in bone marrow (RPKM 15.3), adrenal (RPKM 14.6) and 25 other tissues See more
Orthologs

Genomic context

See PNPLA8 in Genome Data Viewer
Location:
7q31.1
Exon count:
14
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (108470417..108528178, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (108110866..108168605, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene neuronal cell adhesion molecule Neighboring gene RNA, U7 small nuclear 83 pseudogene Neighboring gene Sharpr-MPRA regulatory region 14594 Neighboring gene ribosomal protein L7 pseudogene 32 Neighboring gene DnaJ heat shock protein family (Hsp40) member B9 Neighboring gene THAP domain containing 5

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

Associated conditions

Description Tests
Mitochondrial myopathy-lactic acidosis-deafness syndrome
MedGen: C1855033 OMIM: 251950 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Large-scale genome-wide association study of Asian population reveals genetic factors in FRMD4A and other loci influencing smoking initiation and nicotine dependence.
NHGRI GWA 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
ATP binding NAS
Non-traceable Author Statement
more info
PubMed 
calcium-independent phospholipase A2 activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
calcium-independent phospholipase A2 activity IDA
Inferred from Direct Assay
more info
PubMed 
lysophospholipase activity IEA
Inferred from Electronic Annotation
more info
 
phospholipase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
arachidonic acid metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
arachidonic acid metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
arachidonic acid secretion IDA
Inferred from Direct Assay
more info
PubMed 
cell death IDA
Inferred from Direct Assay
more info
PubMed 
fatty acid metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
fatty acid metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
linoleic acid metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
phosphatidylcholine acyl-chain remodeling TAS
Traceable Author Statement
more info
 
phosphatidylcholine catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
phosphatidylethanolamine acyl-chain remodeling TAS
Traceable Author Statement
more info
 
phosphatidylethanolamine catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
prostaglandin biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
Golgi membrane IEA
Inferred from Electronic Annotation
more info
 
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
membrane IDA
Inferred from Direct Assay
more info
PubMed 
perinuclear region of cytoplasm IEA
Inferred from Electronic Annotation
more info
 
peroxisomal membrane IDA
Inferred from Direct Assay
more info
PubMed 
peroxisome IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
calcium-independent phospholipase A2-gamma
Names
intracellular membrane-associated calcium-independent phospholipase A2 gamma
membrane-associated calcium-independent phospholipase A2 gamma
NP_001242936.1
NP_001242937.1
NP_001242938.1
NP_001242939.1
NP_001242940.1
NP_056538.1
XP_005250453.1
XP_011514576.1
XP_011514577.1
XP_016867750.1

NCBI Reference Sequences (RefSeq)

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_042172.1 RefSeqGene

    Range
    4984..62745
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001256007.3NP_001242936.1  calcium-independent phospholipase A2-gamma isoform 1

    See identical proteins and their annotated locations for NP_001242936.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same protein (isoform 1).
    Source sequence(s)
    AC005058, AL834147, BC032999, DW410822
    Consensus CDS
    CCDS34733.1
    UniProtKB/Swiss-Prot
    Q9NP80
    UniProtKB/TrEMBL
    A0A024R746
    Related
    ENSP00000257694.8, ENST00000257694.13
    Conserved Domains (1) summary
    cd07211
    Location:435741
    Pat_PNPLA8; Patatin-like phospholipase domain containing protein 8
  2. NM_001256008.3NP_001242937.1  calcium-independent phospholipase A2-gamma isoform 1

    See identical proteins and their annotated locations for NP_001242937.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same protein (isoform 1).
    Source sequence(s)
    AC005058, AL834147, BC032999, DW410822
    Consensus CDS
    CCDS34733.1
    UniProtKB/Swiss-Prot
    Q9NP80
    UniProtKB/TrEMBL
    A0A024R746
    Related
    ENSP00000406779.1, ENST00000436062.5
    Conserved Domains (1) summary
    cd07211
    Location:435741
    Pat_PNPLA8; Patatin-like phospholipase domain containing protein 8
  3. NM_001256009.3NP_001242938.1  calcium-independent phospholipase A2-gamma isoform 2

    See identical proteins and their annotated locations for NP_001242938.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR and uses an alternate in-frame splice site in the 3' coding region compared to variant 1. The resulting protein (isoform 2) is shorter compared to isoform 1.
    Source sequence(s)
    AC005058, AL834147, BC032999, DW410822
    Consensus CDS
    CCDS59508.1
    UniProtKB/Swiss-Prot
    Q9NP80
    Related
    ENSP00000394988.2, ENST00000426128.6
    Conserved Domains (1) summary
    cd07211
    Location:435679
    Pat_PNPLA8; Patatin-like phospholipase domain containing protein 8
  4. NM_001256010.3NP_001242939.1  calcium-independent phospholipase A2-gamma isoform 3

    See identical proteins and their annotated locations for NP_001242939.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR and coding region and uses a downstream start codon compared to variant 1. The resulting protein (isoform 3) has a shorter N-terminus compared to isoform 1. Variants 5 and 6 encode the same protein.
    Source sequence(s)
    AC005058, AL834147, BC032999, DW410822
    Consensus CDS
    CCDS59075.1
    UniProtKB/Swiss-Prot
    Q9NP80
    Related
    ENSP00000387789.1, ENST00000453144.5
    Conserved Domains (1) summary
    cd07211
    Location:335641
    Pat_PNPLA8; Patatin-like phospholipase domain containing protein 8
  5. NM_001256011.3NP_001242940.1  calcium-independent phospholipase A2-gamma isoform 3

    See identical proteins and their annotated locations for NP_001242940.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) differs in the 5' UTR and coding region and uses a downstream start codon compared to variant 1. The resulting protein (isoform 3) has a shorter N-terminus compared to isoform 1. Variants 5 and 6 encode the same protein.
    Source sequence(s)
    AC005058, AK024335, AL834147, BC032999, DW410822, N57453
    Consensus CDS
    CCDS59075.1
    UniProtKB/Swiss-Prot
    Q9NP80
    Related
    ENSP00000402274.1, ENST00000453085.1
    Conserved Domains (1) summary
    cd07211
    Location:335641
    Pat_PNPLA8; Patatin-like phospholipase domain containing protein 8
  6. NM_015723.5NP_056538.1  calcium-independent phospholipase A2-gamma isoform 1

    See identical proteins and their annotated locations for NP_056538.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript. Variants 1, 2 and 3 encode the same protein (isoform 1).
    Source sequence(s)
    AC005058, AL834147, BC032999, DW410822
    Consensus CDS
    CCDS34733.1
    UniProtKB/Swiss-Prot
    Q9NP80
    UniProtKB/TrEMBL
    A0A024R746
    Related
    ENSP00000410804.1, ENST00000422087.5
    Conserved Domains (1) summary
    cd07211
    Location:435741
    Pat_PNPLA8; Patatin-like phospholipase domain containing protein 8

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

    Range
    108470417..108528178 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017012261.2XP_016867750.1  calcium-independent phospholipase A2-gamma isoform X4

  2. XM_011516275.3XP_011514577.1  calcium-independent phospholipase A2-gamma isoform X2

    Conserved Domains (1) summary
    cd07211
    Location:463707
    Pat_PNPLA8; Patatin-like phospholipase domain containing protein 8
  3. XM_011516274.3XP_011514576.1  calcium-independent phospholipase A2-gamma isoform X1

    See identical proteins and their annotated locations for XP_011514576.1

    UniProtKB/Swiss-Prot
    Q9NP80
    Conserved Domains (1) summary
    cd07211
    Location:463769
    Pat_PNPLA8; Patatin-like phospholipase domain containing protein 8
  4. XM_005250396.5XP_005250453.1  calcium-independent phospholipase A2-gamma isoform X3

    See identical proteins and their annotated locations for XP_005250453.1

    UniProtKB/Swiss-Prot
    Q9NP80
    Conserved Domains (1) summary
    cd07211
    Location:435679
    Pat_PNPLA8; Patatin-like phospholipase domain containing protein 8

RNA

  1. XR_001744798.2 RNA Sequence

  2. XR_001744797.2 RNA Sequence

  3. XR_001744793.2 RNA Sequence

  4. XR_001744796.2 RNA Sequence

  5. XR_001744795.2 RNA Sequence

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