Pnpla6
Gene Detail

Symbol Name ID

Pnpla6 patatin-like phospholipase domain containing 6 MGI:1354723

Synonyms

MSws, Nte, Swiss-cheese

Feature Type

protein coding gene

Genetic Map

Chromosome 8

1.92 cM
Detailed Genetic Map ± 1 cM


Mapping data(4)

Sequence Map

Chr8:3515384-3544266 bp, + strand From Ensembl annotation of GRCm38   28883 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate homology

HomoloGene:21333  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Gene Tree: Pnpla6

Human homologs

Human Homolog		PNPLA6, patatin-like phospholipase domain containing 6
NCBI Gene ID		10908
neXtProt AC		NX_Q8IY17
Human Synonyms		iPLA2delta, NTE, NTEMND, SPG39, sws
Human Chr (Location)		19p13.2; chr19:7599038-7626653 (+)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human PNPLA6

Alleles and phenotypes

All alleles(10) : Targeted(5) Gene trapped(5)
 

Homozygous mutation of this gene results in embryonic lethality during early gestation. Conditional inactivation in the central nervous system leads to neurodegeneration.

 
Human Diseases Modeled Using Mouse Pnpla6 (1)    Alleles Annotated to Human Diseases(1)   

Gene Ontology (GO) classifications

All GO classifications: (14 annotations)

Process	angiogenesis, lipid catabolic process, ...
Component	endoplasmic reticulum, integral to membrane, ...
Function	carboxylesterase activity, hydrolase activity, ...

External Resources: FuncBase

Expression

Literature Summary: (4 records)
Data Summary: Results (140)    Tissues (128)    Images (24)
Theiler Stages: 18, 21, 22, 23, 24, 28

Assay Type	Results
RNA in situ	134
Northern blot	6

cDNA source data(90)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(92) Genomic(1) cDNA(91)
Microarray probesets(3)

Other database links

Ensembl Gene Model	ENSMUSG00000004565 (Evidence)
Entrez Gene	50767 (Evidence)
UniGene	23085
DFCI	TC1576034, TC1590528, TC1606187
DoTS	DT.60117409, DT.91316459, DT.97338192, DT.97340989, DT.97342056
NIA Mouse Gene Index	U009024
EC	3.1.1.5
Consensus CDS Project	CCDS40206.1
International Mouse Knockout Project Status	Pnpla6

Sequences

Length	Strain/Species
genomic	ENSMUSG00000004565	Ensembl Gene Model | MGI Sequence Detail	28883	C57BL/6J
transcript	ENSMUST00000004681	Ensembl | MGI Sequence Detail	4437	Not Applicable
polypeptide	ENSMUSP00000004681	Ensembl | MGI Sequence Detail	1327	Not Applicable

All sequences(31) RefSeq(4) UniProt(1)

Polymorphisms

SNPs(143 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR016035	Acyl transferase/acyl hydrolase/lysophospholipase
InterPro	IPR000595	Cyclic nucleotide-binding domain
InterPro	IPR018490	Cyclic nucleotide-binding-like
InterPro	IPR001423	Lysophospholipase patatin, conserved site
InterPro	IPR002641	Patatin/Phospholipase A2-related
InterPro	IPR014710	RmlC-like jelly roll fold
Protein Ontology	PR:000012946	neuropathy target esterase

References

(Earliest) J:60427 Moser M, et al., Cloning and expression of the murine sws/NTE gene. Mech Dev. 2000 Feb;90(2):279-82
(Latest) J:152759 Read DJ, et al., Neuropathy target esterase is required for adult vertebrate axon maintenance. J Neurosci. 2009 Sep 16;29(37):11594-600
All references(39)

Other accession IDs

MGI:2142609