Format

Send to:

Choose Destination

PNPLA6 patatin like phospholipase domain containing 6 [ Homo sapiens (human) ]

Gene ID: 10908, updated on 8-May-2016
Official Symbol
PNPLA6provided by HGNC
Official Full Name
patatin like phospholipase domain containing 6provided by HGNC
Primary source
HGNC:HGNC:16268
See related
Ensembl:ENSG00000032444 HPRD:04432; MIM:603197; Vega:OTTHUMG00000182094
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
NTE; sws; BNHS; LNMS; OMCS; SPG39; NTEMND; iPLA2delta
Summary
This gene encodes a phospholipase that deacetylates intracellular phosphatidylcholine to produce glycerophosphocholine. It is thought to function in neurite outgrowth and process elongation during neuronal differentiation. The protein is anchored to the cytoplasmic face of the endoplasmic reticulum in both neurons and non-neuronal cells. Mutations in this gene result in autosomal recessive spastic paraplegia, and the protein is the target for neurodegeneration induced by organophosphorus compounds and chemical warfare agents. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
Orthologs
Location:
19p13.2
Exon count:
37
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 19 NC_000019.10 (7534152..7561767)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (7599033..7626653)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372261 Neighboring gene zinc finger protein 358 Neighboring gene mucolipin 1 Neighboring gene calmodulin regulated spectrin associated protein family member 3 Neighboring gene microRNA 6792 Neighboring gene XPA binding protein 2

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • Glycerophospholipid catabolism, organism-specific biosystem (from REACTOME)
    Glycerophospholipid catabolism, organism-specific biosystemReactions grouped in this pathway because of their shared chemistry - the hydrolysis of various phosphatidyl inositols and related phospholipids. They differ, however, in the tissues in which they oc...
  • Glycerophospholipid metabolism, organism-specific biosystem (from KEGG)
    Glycerophospholipid metabolism, organism-specific biosystem
    Glycerophospholipid metabolism
  • Glycerophospholipid metabolism, conserved biosystem (from KEGG)
    Glycerophospholipid metabolism, conserved biosystem
    Glycerophospholipid metabolism
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of lipids and lipoproteins, organism-specific biosystem (from REACTOME)
    Metabolism of lipids and lipoproteins, organism-specific biosystemLipids are hydrophobic but otherwise chemically diverse molecules that play a wide variety of roles in human biology. They include ketone bodies, fatty acids, triacylglycerols, phospholipids and sphi...
  • PI Metabolism, organism-specific biosystem (from REACTOME)
    PI Metabolism, organism-specific biosystemPhosphatidylinositol (PI), a membrane phospholipid, can be reversibly phosphorylated at the 3, 4, and 5 positions of the inositol ring to generate seven phosphoinositides: phosphatidylinositol 3-phos...
  • Phospholipid metabolism, organism-specific biosystem (from REACTOME)
    Phospholipid metabolism, organism-specific biosystemPhospholipids contain a polar head group and two long-chain fatty acyl moieties, one of which is generally unsaturated. The head group is a glycerol or serine phosphate attached to a polar group such...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Potential readthrough

Included gene: MCOLN1

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
lysophospholipase activity EXP
Inferred from Experiment
more info
PubMed 
lysophospholipase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
Process Evidence Code Pubs
angiogenesis IEA
Inferred from Electronic Annotation
more info
 
developmental process IBA
Inferred from Biological aspect of Ancestor
more info
 
glycerophospholipid catabolic process TAS
Traceable Author Statement
more info
 
organ morphogenesis IEA
Inferred from Electronic Annotation
more info
 
phosphatidylcholine metabolic process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
 
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
membrane IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
neuropathy target esterase
Names
patatin-like phospholipase domain containing 6
patatin-like phospholipase domain-containing protein 6
NP_001159583.1
NP_001159584.1
NP_001159585.1
NP_001159586.1
NP_006693.3

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_013374.1 RefSeqGene

    Range
    5001..32616
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001166111.1NP_001159583.1  neuropathy target esterase isoform a

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
    Source sequence(s)
    AK294021, BC038229, BC051768, BQ001677, DB068563
    Consensus CDS
    CCDS54206.1
    UniProtKB/Swiss-Prot
    Q8IY17
    Related
    ENSP00000407509, OTTHUMP00000268344, ENST00000414982, OTTHUMT00000459282
    Conserved Domains (4) summary
    cd07225
    Location:9641269
    Pat_PNPLA6_PNPLA7; Patatin-like phospholipase domain containing protein 6 and protein 7
    COG0664
    Location:189331
    Crp; cAMP-binding domain of CRP or a regulatory subunit of cAMP-dependent protein kinases [Signal transduction mechanisms]
    COG1752
    Location:9691253
    RssA; Predicted acylesterase/phospholipase RssA, containd patatin domain [General function prediction only]
    cd00038
    Location:635743
    CAP_ED; effector domain of the CAP family of transcription factors; members include CAP (or cAMP receptor protein (CRP)), which binds cAMP, FNR (fumarate and nitrate reduction), which uses an iron-sulfur cluster to sense oxygen) and CooA, a heme containing CO ...
  2. NM_001166112.1NP_001159584.1  neuropathy target esterase isoform c

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) represents use of an alternate promoter and 5' UTR, uses two alternate in-frame splice sites, and lacks an alternate in-frame exon in the central coding region, compared to variant 1. The resulting isoform (c) lacks two internal segments and one internal residue, compared to isoform a.
    Source sequence(s)
    AK302462, BC051768, BQ001677
    Consensus CDS
    CCDS54207.1
    UniProtKB/Swiss-Prot
    Q8IY17
    Related
    ENSP00000443323, OTTHUMP00000268342, ENST00000545201, OTTHUMT00000459280
    Conserved Domains (4) summary
    cd07225
    Location:8891194
    Pat_PNPLA6_PNPLA7; Patatin-like phospholipase domain containing protein 6 and protein 7
    COG0664
    Location:141283
    Crp; cAMP-binding domain of CRP or a regulatory subunit of cAMP-dependent protein kinases [Signal transduction mechanisms]
    COG1752
    Location:8941178
    RssA; Predicted acylesterase/phospholipase RssA, containd patatin domain [General function prediction only]
    cd00038
    Location:561669
    CAP_ED; effector domain of the CAP family of transcription factors; members include CAP (or cAMP receptor protein (CRP)), which binds cAMP, FNR (fumarate and nitrate reduction), which uses an iron-sulfur cluster to sense oxygen) and CooA, a heme containing CO ...
  3. NM_001166113.1NP_001159585.1  neuropathy target esterase isoform b

    See identical proteins and their annotated locations for NP_001159585.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) includes an alternate exon in the 5' UTR and uses an alternate in-frame splice site in the 5' coding region, compared to variant 1. The full-extent of the 5' UTR has not been determined. The resulting isoform (b) lacks an internal segment near the N-terminus, compared to isoform a. Both variants 2 and 3 encode the same isoform.
    Source sequence(s)
    AJ004832, BC050553, BC051768, BQ001677
    Consensus CDS
    CCDS32891.1
    UniProtKB/Swiss-Prot
    Q8IY17
    Related
    ENSP00000394348, OTTHUMP00000268345, ENST00000450331, OTTHUMT00000459283
    Conserved Domains (4) summary
    cd07225
    Location:9161221
    Pat_PNPLA6_PNPLA7; Patatin-like phospholipase domain containing protein 6 and protein 7
    COG0664
    Location:141283
    Crp; cAMP-binding domain of CRP or a regulatory subunit of cAMP-dependent protein kinases [Signal transduction mechanisms]
    COG1752
    Location:9211205
    RssA; Predicted acylesterase/phospholipase RssA, containd patatin domain [General function prediction only]
    cd00038
    Location:587695
    CAP_ED; effector domain of the CAP family of transcription factors; members include CAP (or cAMP receptor protein (CRP)), which binds cAMP, FNR (fumarate and nitrate reduction), which uses an iron-sulfur cluster to sense oxygen) and CooA, a heme containing CO ...
  4. NM_001166114.1NP_001159586.1  neuropathy target esterase isoform d

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) represents use of an alternate promoter and 5' UTR, uses a downstream start codon, and uses an alternate in-frame splice site in the central coding region, compared to variant 1. The resulting isoform (d) has a shorter N-terminus and lacks one internal residue, compared to isoform a.
    Source sequence(s)
    BC038229, BC051768, BQ001677, DA096881
    Consensus CDS
    CCDS59343.1
    UniProtKB/Swiss-Prot
    Q8IY17
    Related
    ENSP00000473211, OTTHUMP00000268348, ENST00000600737, OTTHUMT00000459286
    Conserved Domains (4) summary
    cd07225
    Location:9541259
    Pat_PNPLA6_PNPLA7; Patatin-like phospholipase domain containing protein 6 and protein 7
    COG0664
    Location:180322
    Crp; cAMP-binding domain of CRP or a regulatory subunit of cAMP-dependent protein kinases [Signal transduction mechanisms]
    COG1752
    Location:9591243
    RssA; Predicted acylesterase/phospholipase RssA, containd patatin domain [General function prediction only]
    cd00038
    Location:626734
    CAP_ED; effector domain of the CAP family of transcription factors; members include CAP (or cAMP receptor protein (CRP)), which binds cAMP, FNR (fumarate and nitrate reduction), which uses an iron-sulfur cluster to sense oxygen) and CooA, a heme containing CO ...
  5. NM_006702.4NP_006693.3  neuropathy target esterase isoform b

    See identical proteins and their annotated locations for NP_006693.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) represents use of an alternate promoter and 5' UTR and uses an alternate in-frame splice site in the 5' coding region, compared to variant 1. The resulting isoform (b) lacks an internal segment near the N-terminus, compared to isoform a. Both variants 2 and 3 encode the same isoform.
    Source sequence(s)
    BC050553, BC051768, BQ001677, DA104284
    Consensus CDS
    CCDS32891.1
    UniProtKB/Swiss-Prot
    Q8IY17
    Related
    ENSP00000221249, OTTHUMP00000268339, ENST00000221249, OTTHUMT00000459275
    Conserved Domains (4) summary
    cd07225
    Location:9161221
    Pat_PNPLA6_PNPLA7; Patatin-like phospholipase domain containing protein 6 and protein 7
    COG0664
    Location:141283
    Crp; cAMP-binding domain of CRP or a regulatory subunit of cAMP-dependent protein kinases [Signal transduction mechanisms]
    COG1752
    Location:9211205
    RssA; Predicted acylesterase/phospholipase RssA, containd patatin domain [General function prediction only]
    cd00038
    Location:587695
    CAP_ED; effector domain of the CAP family of transcription factors; members include CAP (or cAMP receptor protein (CRP)), which binds cAMP, FNR (fumarate and nitrate reduction), which uses an iron-sulfur cluster to sense oxygen) and CooA, a heme containing CO ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p2 Primary Assembly

    Range
    7534152..7561767
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018930.2 Alternate CHM1_1.1

    Range
    7598956..7626567
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)