PNPLA6
entrez
10908
canonical
uniprot
Q8IY17
canonical
ensembl
ENSG00000032444
resolver
ensp
ENSP00000221249
resolver
ensp
ENSP00000394348
resolver
ensp
ENSP00000407509
resolver
ensp
ENSP00000443323
resolver
ensp
ENSP00000473211
resolver
enst
ENST00000600737
resolver
genesymbol
PNPLA6
resolver
genesymbol_syn
NTE
resolver
hgnc
HGNC:16268
resolver
uniprot
A0A384DVU0
resolver
uniprot
A6NGQ0
resolver
uniprot
B4DFB9
resolver
uniprot
B7Z7T2
resolver
uniprot
F5H5K9
resolver
uniprot
J3KQS3
resolver
uniprot
O60859
resolver
uniprot
Q86W58
resolver
uniprot
Q9UG58
resolver
uniprot_entry
A0A384DVU0_HUMAN
resolver
uniprot_entry
PLPL6_HUMAN
resolver
uniprot_sec
A6NGQ0
resolver
uniprot_sec
B4DFB9
resolver
uniprot_sec
B7Z7T2
resolver
uniprot_sec
F5H5K9
resolver
uniprot_sec
J3KQS3
resolver
uniprot_sec
O60859
resolver
uniprot_sec
Q86W58
resolver
uniprot_sec
Q9UG58
resolver
activity_regulation
ACTIVITY REGULATION: Inhibited by a series a OPs such as mipafox (MPX), phenyl saligenin phosphate (PSP), phenyl dipentyl phosphinate (PDPP), diisopropyl fluorophosphate and paraoxon. {ECO:0000269|PubMed:15044461, ECO:0000305|PubMed:1666291}.
uniprot
proteins
amino_acid_sequence
MEAPLQTGMMGTSSHGLATNSSGAKVAERDGFQDVLAPGEGSAGRICGAQPVPFVPQVLGVMIGAGVAVVVTAVLILLVVRRLRVPKTPAPDGPRYRFRKRDKVLFYGRKIMRKVSQSTSSLVDTSVSATSRPRMRKKLKMLNIAKKILRIQKETPTLQRKEPPPAVLEADLTEGDLANSHLPSEVLYMLKNVRVLGHFEKPLFLELCRHMVFQRLGQGDYVFRPGQPDASIYVVQDGLLELCLPGPDGKECVVKEVVPGDSVNSLLSILDVITGHQHPQRTVSARAARDSTVLRLPVEAFSAVFTKYPESLVRVVQIIMVRLQRVTFLALHNYLGLTNELFSHEIQPLRLFPSPGLPTRTSPVRGSKRMVSTSATDEPRETPGRPPDPTGAPLPGPTGDPVKPTSLETPSAPLLSRCVSMPGDISGLQGGPRSDFDMAYERGRISVSLQEEASGGSLAAPARTPTQEPREQPAGACEYSYCEDESATGGCPFGPYQGRQTSSIFEAAKQELAKLMRIEDPSLLNSRVLLHHAKAGTIIARQGDQDVSLHFVLWGCLHVYQRMIDKAEDVCLFVAQPGELVGQLAVLTGEPLIFTLRAQRDCTFLRISKSDFYEIMRAQPSVVLSAAHTVAARMSPFVRQMDFAIDWTAVEAGRALYRQGDRSDCTYIVLNGRLRSVIQRGSGKKELVGEYGRGDLIGVVEALTRQPRATTVHAVRDTELAKLPEGTLGHIKRRYPQVVTRLIHLLSQKILGNLQQLQGPFPAGSGLGVPPHSELTNPASNLATVAILPVCAEVPMVAFTLELQHALQAIGPTLLLNSDIIRARLGASALDSIQEFRLSGWLAQQEDAHRIVLYQTDASLTPWTVRCLRQADCILIVGLGDQEPTLGQLEQMLENTAVRALKQLVLLHREEGAGPTRTVEWLNMRSWCSGHLHLRCPRRLFSRRSPAKLHELYEKVFSRRADRHSDFSRLARVLTGNTIALVLGGGGARGCSHIGVLKALEEAGVPVDLVGGTSIGSFIGALYAEERSASRTKQRAREWAKSMTSVLEPVLDLTYPVTSMFTGSAFNRSIHRVFQDKQIEDLWLPYFNVTTDITASAMRVHKDGSLWRYVRASMTLSGYLPPLCDPKDGHLLMDGGYINNLPADIARSMGAKTVIAIDVGSQDETDLSTYGDSLSGWWLLWKRLNPWADKVKVPDMAEIQSRLAYVSCVRQLEVVKSSSYCEYLRPPIDCFKTMDFGKFDQIYDVGYQYGKAVFGGWSRGNVIEKMLTDRRSTDLNESRRADVLAFPSSGFTDLAEIVSRIEPPTSYVSDGCADGEESDCLTEYEEDAGPDCSRDEGGSPEGASPSTASEMEEEKSILRQRRCLPQEPPGSATDA
uniprot
proteins
disease_involvement
DISEASE: 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. {ECO:0000269|PubMed:18313024, ECO:0000269|PubMed:24355708}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Boucher-Neuhauser syndrome (BNHS) [MIM:215470]: An autosomal recessive disorder characterized by spinocerebellar ataxia, hypogonadotropic hypogonadism, and visual impairment due to chorioretinal dystrophy. The age at onset is variable, but most patients develop 1 or more symptoms in the first decade of life. Chorioretinal dystrophy may not always be present. {ECO:0000269|PubMed:24355708, ECO:0000269|PubMed:25033069}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Laurence-Moon syndrome (LNMS) [MIM:245800]: An autosomal recessive syndrome characterized by progressive spinocerebellar degeneration, spastic paraplegia, intellectual disability, hypogonadism, dwarfism, and chorioretinopathy. Trichomegaly is absent. {ECO:0000269|PubMed:25480986}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Oliver-McFarlane syndrome (OMCS) [MIM:275400]: A rare autosomal recessive, congenital syndrome characterized by trichomegaly, severe chorioretinal atrophy and multiple pituitary hormone deficiencies. It results in intellectual impairment and dwarfism, if untreated. Clinical features include hypogonadotropic hypogonadism during puberty, pigmentary retinal degeneration, ataxia, spastic paraplegia, and peripheral neuropathy. {ECO:0000269|PubMed:25480986}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.1.1.5
uniprot
proteins
function
FUNCTION: Phospholipase B that deacylates intracellular phosphatidylcholine (PtdCho), generating glycerophosphocholine (GroPtdCho). This deacylation occurs at both sn-2 and sn-1 positions of PtdCho. Catalyzes the hydrolysis of several naturally occurring membrane-associated lipids (PubMed:11927584). Hydrolyzes lysophospholipids and monoacylglycerols, preferring the 1-acyl to the 2-acyl isomer. Does not catalyze hydrolysis of di- or triacylglycerols or fatty acid amides (PubMed:11927584). {ECO:0000269|PubMed:11927584, ECO:0000269|PubMed:15044461}.
uniprot
proteins
mass_dalton
150954
uniprot
proteins
post_translational_modification
PTM: Glycosylated. {ECO:0000269|PubMed:9576844}.
uniprot
proteins
protein_family
NTE family
uniprot
proteins
pubmed
11927584
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15044461
uniprot
proteins
pubmed
15057824
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
1666291
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18313024
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
18691976
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
24355708
uniprot
proteins
pubmed
25033069
uniprot
proteins
pubmed
25480986
uniprot
proteins
pubmed
9576844
uniprot
proteins
sequence_length
1375
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:15044461}; Single-pass type III membrane protein {ECO:0000269|PubMed:15044461}.
uniprot
proteins
transmembrane_region
TRANSMEM 60..80; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins