Human Gene PNPLA6 (uc010xjq.2)
  Description: Homo sapiens patatin-like phospholipase domain containing 6 (PNPLA6), transcript variant 1, mRNA.
RefSeq Summary (NM_001166111): 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].
Transcript (Including UTRs)
   Position: hg19 chr19:7,599,591-7,626,653 Size: 27,063 Total Exon Count: 34 Strand: +
Coding Region
   Position: hg19 chr19:7,600,437-7,626,448 Size: 26,012 Coding Exon Count: 33 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
Other SpeciesmRNA DescriptionsOther NamesGeneReviewsModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr19:7,599,591-7,626,653)mRNA (may differ from genome)Protein (1375 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
H-INVHGNCLynxMalacardsMGIOMIM
PubMedUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: J3KQS3_HUMAN
DESCRIPTION: SubName: Full=Neuropathy target esterase;
SIMILARITY: Contains 1 patatin domain.
CAUTION: The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): PNPLA6
CDC HuGE Published Literature: PNPLA6

-  MalaCards Disease Associations
  MalaCards Gene Search: PNPLA6
Diseases sorted by gene-association score: laurence-moon syndrome* (1636), spastic paraplegia 39, autosomal recessive* (1588), boucher-neuhauser syndrome* (1580), oliver-mcfarlane syndrome* (1580), spastic paraplegia 39* (530), ataxia - hypogonadism - choroidal dystrophy* (400), cerebellar ataxia and hypogonadotropic hypogonadism* (247), sick building syndrome (22), neuropathy (19), paraplegia (13), polyneuropathy (12), trichomegaly (11), spastic paraplegia 5a, autosomal recessive (9), spastic paraplegia 43, autosomal recessive (9), sjogren-larsson syndrome (7), peripheral nervous system disease (5), juvenile glaucoma (4), motor neuron disease (2), toxic encephalopathy (2)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 43.75 RPKM in Testis
Total median expression: 1027.70 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -64.34240-0.268 Picture PostScript Text
3' UTR -77.70205-0.379 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR016035 - Acyl_Trfase/lysoPLipase
IPR018490 - cNMP-bd-like
IPR000595 - cNMP-bd_dom
IPR001423 - LysoPLipase_patatin_CS
IPR002641 - Patatin/PLipase_A2-rel
IPR014710 - RmlC-like_jellyroll

Pfam Domains:
PF00027 - Cyclic nucleotide-binding domain
PF01734 - Patatin-like phospholipase

SCOP Domains:
51206 - cAMP-binding domain-like
52151 - FabD/lysophospholipase-like

ModBase Predicted Comparative 3D Structure on J3KQS3
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
      
      
      

-  Descriptions from all associated GenBank mRNAs
  BC050553 - Homo sapiens patatin-like phospholipase domain containing 6, mRNA (cDNA clone MGC:57655 IMAGE:5741213), complete cds.
AK302462 - Homo sapiens cDNA FLJ58709 complete cds, highly similar to Homo sapiens neuropathy target esterase (NTE), mRNA.
LF384323 - JP 2014500723-A/191826: Polycomb-Associated Non-Coding RNAs.
AK293807 - Homo sapiens cDNA FLJ60234 complete cds, highly similar to Homo sapiens neuropathy target esterase (NTE), mRNA.
AK294021 - Homo sapiens cDNA FLJ54345 complete cds, highly similar to Homo sapiens neuropathy target esterase (NTE), mRNA.
BC051768 - Homo sapiens patatin-like phospholipase domain containing 6, mRNA (cDNA clone MGC:54216 IMAGE:5764764), complete cds.
AJ004832 - Homo sapiens mRNA for neuropathy target esterase.
CU690838 - Synthetic construct Homo sapiens gateway clone IMAGE:100023180 5' read PNPLA6 mRNA.
KJ906060 - Synthetic construct Homo sapiens clone ccsbBroadEn_15730 PNPLA6 gene, encodes complete protein.
KJ893162 - Synthetic construct Homo sapiens clone ccsbBroadEn_02556 PNPLA6 gene, encodes complete protein.
BC038229 - Homo sapiens patatin-like phospholipase domain containing 6, mRNA (cDNA clone IMAGE:4509888), partial cds.
MA619900 - JP 2018138019-A/191826: Polycomb-Associated Non-Coding RNAs.
JD538134 - Sequence 519158 from Patent EP1572962.
JD320286 - Sequence 301310 from Patent EP1572962.
JD394743 - Sequence 375767 from Patent EP1572962.
JD142416 - Sequence 123440 from Patent EP1572962.
DL491890 - Novel nucleic acids.
DL490453 - Novel nucleic acids.
LF370916 - JP 2014500723-A/178419: Polycomb-Associated Non-Coding RNAs.
LF370917 - JP 2014500723-A/178420: Polycomb-Associated Non-Coding RNAs.
LF370918 - JP 2014500723-A/178421: Polycomb-Associated Non-Coding RNAs.
MA606493 - JP 2018138019-A/178419: Polycomb-Associated Non-Coding RNAs.
MA606494 - JP 2018138019-A/178420: Polycomb-Associated Non-Coding RNAs.
MA606495 - JP 2018138019-A/178421: Polycomb-Associated Non-Coding RNAs.
LF370919 - JP 2014500723-A/178422: Polycomb-Associated Non-Coding RNAs.
LF370921 - JP 2014500723-A/178424: Polycomb-Associated Non-Coding RNAs.
LF370923 - JP 2014500723-A/178426: Polycomb-Associated Non-Coding RNAs.
LF370925 - JP 2014500723-A/178428: Polycomb-Associated Non-Coding RNAs.
LF370926 - JP 2014500723-A/178429: Polycomb-Associated Non-Coding RNAs.
LF370927 - JP 2014500723-A/178430: Polycomb-Associated Non-Coding RNAs.
LF370928 - JP 2014500723-A/178431: Polycomb-Associated Non-Coding RNAs.
AL050362 - Homo sapiens mRNA; cDNA DKFZp564K0223 (from clone DKFZp564K0223).
LF370929 - JP 2014500723-A/178432: Polycomb-Associated Non-Coding RNAs.
LF370930 - JP 2014500723-A/178433: Polycomb-Associated Non-Coding RNAs.
JD252082 - Sequence 233106 from Patent EP1572962.
LF370931 - JP 2014500723-A/178434: Polycomb-Associated Non-Coding RNAs.
JD485986 - Sequence 467010 from Patent EP1572962.
JD097221 - Sequence 78245 from Patent EP1572962.
JD383510 - Sequence 364534 from Patent EP1572962.
MA606496 - JP 2018138019-A/178422: Polycomb-Associated Non-Coding RNAs.
MA606498 - JP 2018138019-A/178424: Polycomb-Associated Non-Coding RNAs.
MA606500 - JP 2018138019-A/178426: Polycomb-Associated Non-Coding RNAs.
MA606502 - JP 2018138019-A/178428: Polycomb-Associated Non-Coding RNAs.
MA606503 - JP 2018138019-A/178429: Polycomb-Associated Non-Coding RNAs.
MA606504 - JP 2018138019-A/178430: Polycomb-Associated Non-Coding RNAs.
MA606505 - JP 2018138019-A/178431: Polycomb-Associated Non-Coding RNAs.
MA606506 - JP 2018138019-A/178432: Polycomb-Associated Non-Coding RNAs.
MA606507 - JP 2018138019-A/178433: Polycomb-Associated Non-Coding RNAs.
MA606508 - JP 2018138019-A/178434: Polycomb-Associated Non-Coding RNAs.

-  Other Names for This Gene
  Alternate Gene Symbols: J3KQS3, J3KQS3_HUMAN, NM_001166111, NP_001159583
UCSC ID: uc010xjq.2
RefSeq Accession: NM_001166111
Protein: J3KQS3 CCDS: CCDS59343.1, CCDS32891.1, CCDS54206.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene PNPLA6:
ataxias (Hereditary Ataxia Overview)
hsp (Hereditary Spastic Paraplegia Overview)
pnpla6-dis (PNPLA6 Disorders)

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001166111.1
exon count: 34CDS single in 3' UTR: no RNA size: 4591
ORF size: 4128CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 7444.00frame shift in genome: no % Coverage: 99.61
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 45# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.