RBCC Red Blood Cell Collection

PLPL6_HUMAN

Source: hRBCD ; ID: IPI00217600
PM19886704
PM23856902
BSc_CH
PM22954596
Marked as 'Integral membrane protein'
Confidence: high (present in two of the MS resources) Search PubMed for
(RBC AND this entry)
Gene names: PNPLA6 , NTE
Protein names and data: PLPL6_HUMAN , Neuropathy target esterase; 3.1.1.5 , Patatin-like phospholipase domain-containing protein 6 Lenght: 1366 a.a.
Mass: 149995 Da
fasta formatted sequence
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.
Catalytic activity: 2-lysophosphatidylcholine + H(2)O = glycerophosphocholine + a carboxylate.
Disease: ( OMIM: 603197 612020 ) Spastic paraplegia 39, autosomal recessive (SPG39) [MIM:612020]: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG39 is associated with a motor axonopathy affecting upper and lower limbs and resulting in progressive wasting of distal upper and lower extremity muscles. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location: Endoplasmic reticulum membrane; Single-pass type I membrane protein; Cytoplasmic side. 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.

Genetic variants

403 - 403 A -> P (in dbSNP:rs17854645). VAR_032949 17854645
929 - 929 R -> H (in SPG39). VAR_044409
1024 - 1024 K -> R (in dbSNP:rs17854647). VAR_032950 17854647
1051 - 1051 M -> V (in SPG39). VAR_044410

Database cross-references

UniProt: Q8IY17
Ensembl: ENST00000221249
Ensembl: ENST00000414982
Ensembl: ENST00000450331
Ensembl: ENST00000545201
Ensembl: ENST00000600737
MIM: 603197
MIM: 612020
neXtProt: NX_Q8IY17
Antibodypedia: Q8IY17 (may not find the protein thus also not any antibody)
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