| Gene Symbol | PNPLA6 |
|---|---|
| Entrez Gene | 10908 |
| Alt Symbol | BNHS, LNMS, NTE, NTEMND, OMCS, SPG39, iPLA2delta, sws |
| Species | Human |
| Gene Type | protein-coding |
| Description | patatin-like phospholipase domain containing 6 |
| Other Description | neuropathy target esterase|patatin-like phospholipase domain-containing protein 6 |
| Swissprots | F5H5K9 Q9UG58 O60859 B7Z7T2 Q8IY17 B4DFB9 A6NGQ0 Q86W58 J3KQS3 |
| Accessions | AIL88793 AIL88794 AIL88795 AIL88796 AIL88797 AIL88798 AIL88799 EAW69029 EAW69030 Q8IY17 AJ004832 CAA06164 AK293807 BAG57214 AK294021 BAG57380 AK302462 BAH13718 AL050362 CAB43674 BC038229 AAH38229 BC050553 AAH50553 BC051768 AAH51768 BQ001677 BQ430066 DA096881 DA104284 DA247219 DB068563 NM_001166111 NP_001159583 NM_001166112 NP_001159584 NM_001166113 NP_001159585 NM_001166114 NP_001159586 NM_006702 NP_006693 |
| Function | Phospholipase B that deacylates intracellular phosphatidylcholine (PtdCho), generating glycerophosphocholine (GroPtdCho). This deacylation occurs at both sn-2 and sn-1 positions of PtdCho. Its specific chemical modification by certain organophosphorus (OP) compounds leads to distal axonopathy. {ECO:0000269|PubMed:15044461, ECO:0000269|PubMed:1666291}. |
| Subcellular Location | Endoplasmic reticulum membrane {ECO:0000269|PubMed:15044461}; Single-pass type I membrane protein {ECO:0000269|PubMed:15044461}; Cytoplasmic side {ECO:0000269|PubMed:15044461}. Note=Anchored to the cytoplasmic face of the endoplasmic reticulum by its amino-terminal transmembrane segment. |
| Tissue Specificity | Expressed in brain, placenta, kidney, neuron and skeletal muscle. {ECO:0000269|PubMed:9576844}. |
| Top Pathways | Glycerophospholipid metabolism |
PNPLA6 - MBS1275599 from MyBioSource
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PNPLA6 - MBS1275375 from MyBioSource
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Human PNPLA6 cDNA clone(NM_001166111.1) - CDFH014635 from Creative Biomart
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Human PNPLA6 cDNA clone(NM_001166113.1) - CDFH014636 from Creative Biomart
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Human PNPLA6 cDNA clone(NM_001166112.1) - CDFH014637 from Creative Biomart
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Human PNPLA6 cDNA clone(NM_001166114.1) - CDFH014638 from Creative Biomart
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Human PNPLA6 ORF Clone(NM_006702.4) - CDCR293520 from Creative Biomart
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Human PNPLA6 ORF Clone(NM_006702.4) - CDCR293521 from Creative Biomart
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Human PNPLA6 ORF Clone(NM_001166111.1) - CDCR355183 from Creative Biomart
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Human PNPLA6 ORF Clone(NM_001166111.1) - CDCR355185 from Creative Biomart
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Human PNPLA6 ORF Clone(NM_001166112.1) - CDCR355186 from Creative Biomart
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Human PNPLA6 ORF Clone(NM_001166113.1) - CDCR355187 from Creative Biomart
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Human PNPLA6 ORF Clone(NM_001166112.1) - CDCR355188 from Creative Biomart
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Human PNPLA6 ORF Clone(NM_001166113.1) - CDCR355189 from Creative Biomart
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Human PNPLA6 ORF Clone(NM_001166114.1) - CDCR355190 from Creative Biomart
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Human PNPLA6 ORF Clone(NM_001166114.1) - CDCR355191 from Creative Biomart
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Human PNPLA6 ORF Clone(NM_006702.4) - CDCR293520 from Creative biogene
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Human PNPLA6 ORF Clone(NM_001166113.1) - CDCR355187 from Creative biogene
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human PNPLA6 ORF clone (NM_001166111.1) - CDCH065552 from Creative biogene
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human PNPLA6 ORF clone (NM_001166112.1) - CDCH065554 from Creative biogene
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human PNPLA6 ORF clone (NM_001166114.1) - CDCH065556 from Creative biogene
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Human PNPLA6 ORF Clone (BC051768) - CDCS408816 from Creative biogene
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Human PNPLA6 ORF Clone (BC050553) - CDCS408817 from Creative biogene
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Human PNPLA6 cDNA Clone(NM_001166111.1) - CDFH014635 from Creative biogene
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Human PNPLA6 cDNA Clone(NM_001166113.1) - CDFH014636 from Creative biogene
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