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Protein

Neuropathy target esterase

Gene

PNPLA6

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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.2 Publications

Catalytic activityi

2-lysophosphatidylcholine + H2O = glycerophosphocholine + a carboxylate.

Enzyme regulationi

Inhibited by a series a OPs such as mipafox (MPX), phenyl saligenin phosphate (PSP), phenyl dipentyl phosphinate (PDPP), diisopropyl fluorophosphate and paraoxon.1 Publication

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Active sitei1005 – 10051By similarity

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi186 – 313128cNMP 1Add
BLAST
Nucleotide bindingi502 – 624123cNMP 2Add
BLAST
Nucleotide bindingi620 – 740121cNMP 3Add
BLAST

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Hydrolase

Keywords - Biological processi

Lipid degradation, Lipid metabolism

Names & Taxonomyi

Protein namesi
Recommended name:
Neuropathy target esterase (EC:3.1.1.5)
Alternative name(s):
Patatin-like phospholipase domain-containing protein 6
Gene namesi
Name:PNPLA6
Synonyms:NTE
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640 Componenti: Chromosome 19

Organism-specific databases

HGNCiHGNC:16268. PNPLA6.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 5050LumenalSequence AnalysisAdd
BLAST
Transmembranei51 – 7121HelicalSequence AnalysisAdd
BLAST
Topological domaini72 – 13661295CytoplasmicSequence AnalysisAdd
BLAST

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Involvement in diseasei

Spastic paraplegia 39, autosomal recessive (SPG39)2 Publications

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA 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.

See also OMIM:612020
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti254 – 2541V → I in SPG39. 1 Publication
VAR_071091
Natural varianti831 – 8311G → E in SPG39. 1 Publication
VAR_071093
Natural varianti929 – 9291R → H in SPG39. 1 Publication
VAR_044409
Natural varianti1051 – 10511M → V in SPG39. 1 Publication
VAR_044410
Boucher-Neuhauser syndrome (BNHS)2 Publications

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionAn 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.

See also OMIM:215470
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti569 – 5691G → W in BNHS. 1 Publication
VAR_071092
Natural varianti1036 – 10361S → L in BNHS. 1 Publication
VAR_071094
Natural varianti1049 – 10491T → I in BNHS. 1 Publication
VAR_071095
Natural varianti1057 – 10571F → S in BNHS. 1 Publication
VAR_071096
Natural varianti1091 – 10911V → G Found in a patient with sporadic ataxia and BNHS; unknown pathological significance. 1 Publication
VAR_071097
Natural varianti1101 – 11011V → M in BNHS. 1 Publication
VAR_071098
Natural varianti1113 – 11131P → L in BNHS. 1 Publication
VAR_071099
Natural varianti1138 – 11381R → C in BNHS. 1 Publication
VAR_073412
Natural varianti1166 – 11661S → C in BNHS. 1 Publication
VAR_073413
Natural varianti1350 – 13501R → W in BNHS. 1 Publication
VAR_073416
Laurence-Moon syndrome (LNMS)1 Publication

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionAn autosomal recessive syndrome characterized by progressive spinocerebellar degeneration, spastic paraplegia, mental retardation, hypogonadism, dwarfism, and chorioretinopathy. Trichomegaly is absent.

See also OMIM:245800
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti717 – 7171G → R in LNMS. 1 Publication
VAR_073409
Oliver-McFarlane syndrome (OMCS)1 Publication

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA 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.

See also OMIM:275400
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti1090 – 10901R → Q in OMCS. 1 Publication
VAR_073410
Natural varianti1120 – 11201G → R in OMCS. 1 Publication
VAR_073411
Natural varianti1167 – 11671G → S in OMCS. 1 Publication
VAR_073414
Natural varianti1206 – 12061V → A in OMCS. 1 Publication
VAR_073415

Keywords - Diseasei

Disease mutation, Dwarfism, Hereditary spastic paraplegia, Hypogonadotropic hypogonadism, Mental retardation, Neurodegeneration, Retinitis pigmentosa

Organism-specific databases

MIMi215470. phenotype.
245800. phenotype.
275400. phenotype.
612020. phenotype.
Orphaneti1180. Ataxia - hypogonadism - choroidal dystrophy.
139480. Autosomal recessive spastic paraplegia type 39.
1173. Cerebellar ataxia - hypogonadism.
PharmGKBiPA145148268.

Polymorphism and mutation databases

BioMutaiPNPLA6.
DMDMi150403921.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 13661366Neuropathy target esterasePRO_0000292199Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi11 – 111N-linked (GlcNAc...)Sequence Analysis
Modified residuei345 – 3451Phosphoserine3 Publications
Modified residuei352 – 3521Phosphothreonine1 Publication
Modified residuei353 – 3531Phosphoserine1 Publication
Modified residuei411 – 4111Phosphoserine1 Publication
Modified residuei455 – 4551Phosphothreonine1 Publication

Post-translational modificationi

Glycosylated.1 Publication

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

MaxQBiQ8IY17.
PaxDbiQ8IY17.
PRIDEiQ8IY17.

PTM databases

PhosphoSiteiQ8IY17.

Expressioni

Tissue specificityi

Expressed in brain, placenta, kidney, neuron and skeletal muscle. Expressed in the developing eye, pituitary and brain.2 Publications

Gene expression databases

BgeeiQ8IY17.
CleanExiHS_PNPLA6.
ExpressionAtlasiQ8IY17. baseline and differential.
GenevisibleiQ8IY17. HS.

Organism-specific databases

HPAiHPA007522.

Interactioni

Protein-protein interaction databases

BioGridi116114. 11 interactions.
STRINGi9606.ENSP00000407509.

Structurei

3D structure databases

ProteinModelPortaliQ8IY17.
SMRiQ8IY17. Positions 527-714.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini972 – 1138167PatatinAdd
BLAST

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi1003 – 10075GXSXG

Sequence similaritiesi

Belongs to the NTE family.Curated
Contains 3 cyclic nucleotide-binding domains.PROSITE-ProRule annotation
Contains 1 patatin domain.Curated

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiCOG0664.
GeneTreeiENSGT00390000002533.
HOGENOMiHOG000016081.
HOVERGENiHBG053067.
InParanoidiQ8IY17.
KOiK14676.
OMAiQQLQGPF.
OrthoDBiEOG7QRQT1.
PhylomeDBiQ8IY17.
TreeFamiTF300519.

Family and domain databases

Gene3Di2.60.120.10. 3 hits.
InterProiIPR016035. Acyl_Trfase/lysoPLipase.
IPR018490. cNMP-bd-like.
IPR000595. cNMP-bd_dom.
IPR001423. LysoPLipase_patatin_CS.
IPR002641. Patatin/PLipase_A2-rel.
IPR014710. RmlC-like_jellyroll.
[Graphical view]
PfamiPF00027. cNMP_binding. 3 hits.
PF01734. Patatin. 1 hit.
[Graphical view]
SMARTiSM00100. cNMP. 3 hits.
[Graphical view]
SUPFAMiSSF51206. SSF51206. 3 hits.
SSF52151. SSF52151. 1 hit.
PROSITEiPS50042. CNMP_BINDING_3. 3 hits.
PS01237. UPF0028. 1 hit.
[Graphical view]

Sequences (5)i

Sequence statusi: Complete.

This entry describes 5 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8IY17-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MGTSSHGLAT NSSGAKVAER DGFQDVLAPG EGSAGRICGA QPVPFVPQVL
60 70 80 90 100
GVMIGAGVAV VVTAVLILLV VRRLRVPKTP APDGPRYRFR KRDKVLFYGR
110 120 130 140 150
KIMRKVSQST SSLVDTSVSA TSRPRMRKKL KMLNIAKKIL RIQKETPTLQ
160 170 180 190 200
RKEPPPAVLE ADLTEGDLAN SHLPSEVLYM LKNVRVLGHF EKPLFLELCR
210 220 230 240 250
HMVFQRLGQG DYVFRPGQPD ASIYVVQDGL LELCLPGPDG KECVVKEVVP
260 270 280 290 300
GDSVNSLLSI LDVITGHQHP QRTVSARAAR DSTVLRLPVE AFSAVFTKYP
310 320 330 340 350
ESLVRVVQII MVRLQRVTFL ALHNYLGLTN ELFSHEIQPL RLFPSPGLPT
360 370 380 390 400
RTSPVRGSKR MVSTSATDEP RETPGRPPDP TGAPLPGPTG DPVKPTSLET
410 420 430 440 450
PSAPLLSRCV SMPGDISGLQ GGPRSDFDMA YERGRISVSL QEEASGGSLA
460 470 480 490 500
APARTPTQEP REQPAGACEY SYCEDESATG GCPFGPYQGR QTSSIFEAAK
510 520 530 540 550
QELAKLMRIE DPSLLNSRVL LHHAKAGTII ARQGDQDVSL HFVLWGCLHV
560 570 580 590 600
YQRMIDKAED VCLFVAQPGE LVGQLAVLTG EPLIFTLRAQ RDCTFLRISK
610 620 630 640 650
SDFYEIMRAQ PSVVLSAAHT VAARMSPFVR QMDFAIDWTA VEAGRALYRQ
660 670 680 690 700
GDRSDCTYIV LNGRLRSVIQ RGSGKKELVG EYGRGDLIGV VEALTRQPRA
710 720 730 740 750
TTVHAVRDTE LAKLPEGTLG HIKRRYPQVV TRLIHLLSQK ILGNLQQLQG
760 770 780 790 800
PFPAGSGLGV PPHSELTNPA SNLATVAILP VCAEVPMVAF TLELQHALQA
810 820 830 840 850
IGPTLLLNSD IIRARLGASA LDSIQEFRLS GWLAQQEDAH RIVLYQTDAS
860 870 880 890 900
LTPWTVRCLR QADCILIVGL GDQEPTLGQL EQMLENTAVR ALKQLVLLHR
910 920 930 940 950
EEGAGPTRTV EWLNMRSWCS GHLHLRCPRR LFSRRSPAKL HELYEKVFSR
960 970 980 990 1000
RADRHSDFSR LARVLTGNTI ALVLGGGGAR GCSHIGVLKA LEEAGVPVDL
1010 1020 1030 1040 1050
VGGTSIGSFI GALYAEERSA SRTKQRAREW AKSMTSVLEP VLDLTYPVTS
1060 1070 1080 1090 1100
MFTGSAFNRS IHRVFQDKQI EDLWLPYFNV TTDITASAMR VHKDGSLWRY
1110 1120 1130 1140 1150
VRASMTLSGY LPPLCDPKDG HLLMDGGYIN NLPADIARSM GAKTVIAIDV
1160 1170 1180 1190 1200
GSQDETDLST YGDSLSGWWL LWKRLNPWAD KVKVPDMAEI QSRLAYVSCV
1210 1220 1230 1240 1250
RQLEVVKSSS YCEYLRPPID CFKTMDFGKF DQIYDVGYQY GKAVFGGWSR
1260 1270 1280 1290 1300
GNVIEKMLTD RRSTDLNESR RADVLAFPSS GFTDLAEIVS RIEPPTSYVS
1310 1320 1330 1340 1350
DGCADGEESD CLTEYEEDAG PDCSRDEGGS PEGASPSTAS EMEEEKSILR
1360
QRRCLPQEPP GSATDA
Length:1,366
Mass (Da):149,995
Last modified:June 26, 2007 - v2
Checksum:i705E9A4E2195C887
GO
Isoform 2 (identifier: Q8IY17-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-48: MGTSSHGLATNSSGAKVAERDGFQDVLAPGEGSAGRICGAQPVPFVPQ → MEAPLQTGM

Show »
Length:1,327
Mass (Da):146,216
Checksum:iE823248C9B29DD84
GO
Isoform 3 (identifier: Q8IY17-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     754-754: Missing.

Note: No experimental confirmation available.
Show »
Length:1,365
Mass (Da):149,924
Checksum:i5EBEEC5A15759534
GO
Isoform 4 (identifier: Q8IY17-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MEAPLQTGMM

Note: No experimental confirmation available.
Show »
Length:1,375
Mass (Da):150,954
Checksum:i1C9F2797FB6D8612
GO
Isoform 5 (identifier: Q8IY17-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-48: MGTSSHGLATNSSGAKVAERDGFQDVLAPGEGSAGRICGAQPVPFVPQ → MEAPLQTGM
     511-536: Missing.
     754-754: Missing.

Show »
Length:1,300
Mass (Da):143,351
Checksum:i849012C97C5156A5
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti34 – 374AGRI → TRPV in AAH38229 (PubMed:15489334).Curated
Sequence conflicti639 – 6391T → A in BAG57380 (PubMed:14702039).Curated
Sequence conflicti705 – 7051A → T in AAH38229 (PubMed:15489334).Curated
Sequence conflicti985 – 9851I → W in CAB43674 (PubMed:17974005).Curated
Sequence conflicti1169 – 11691W → V in CAB43674 (PubMed:17974005).Curated
Sequence conflicti1287 – 12871E → G in CAB43674 (PubMed:17974005).Curated
Sequence conflicti1293 – 12931E → K in BAH13718 (PubMed:15057824).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti254 – 2541V → I in SPG39. 1 Publication
VAR_071091
Natural varianti403 – 4031A → P.2 Publications
Corresponds to variant rs17854645 [ dbSNP | Ensembl ].
VAR_032949
Natural varianti569 – 5691G → W in BNHS. 1 Publication
VAR_071092
Natural varianti717 – 7171G → R in LNMS. 1 Publication
VAR_073409
Natural varianti831 – 8311G → E in SPG39. 1 Publication
VAR_071093
Natural varianti929 – 9291R → H in SPG39. 1 Publication
VAR_044409
Natural varianti1024 – 10241K → R.1 Publication
Corresponds to variant rs17854647 [ dbSNP | Ensembl ].
VAR_032950
Natural varianti1036 – 10361S → L in BNHS. 1 Publication
VAR_071094
Natural varianti1049 – 10491T → I in BNHS. 1 Publication
VAR_071095
Natural varianti1051 – 10511M → V in SPG39. 1 Publication
VAR_044410
Natural varianti1057 – 10571F → S in BNHS. 1 Publication
VAR_071096
Natural varianti1090 – 10901R → Q in OMCS. 1 Publication
VAR_073410
Natural varianti1091 – 10911V → G Found in a patient with sporadic ataxia and BNHS; unknown pathological significance. 1 Publication
VAR_071097
Natural varianti1101 – 11011V → M in BNHS. 1 Publication
VAR_071098
Natural varianti1113 – 11131P → L in BNHS. 1 Publication
VAR_071099
Natural varianti1120 – 11201G → R in OMCS. 1 Publication
VAR_073411
Natural varianti1138 – 11381R → C in BNHS. 1 Publication
VAR_073412
Natural varianti1166 – 11661S → C in BNHS. 1 Publication
VAR_073413
Natural varianti1167 – 11671G → S in OMCS. 1 Publication
VAR_073414
Natural varianti1206 – 12061V → A in OMCS. 1 Publication
VAR_073415
Natural varianti1350 – 13501R → W in BNHS. 1 Publication
VAR_073416
Natural varianti1353 – 13531R → G Found in a patient with Gordon-Holmes syndrome; unknown pathological significance. 1 Publication
VAR_071100

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 4848MGTSS…PFVPQ → MEAPLQTGM in isoform 2 and isoform 5. 3 PublicationsVSP_026388Add
BLAST
Alternative sequencei1 – 11M → MEAPLQTGMM in isoform 4. 1 PublicationVSP_046064
Alternative sequencei511 – 53626Missing in isoform 5. 1 PublicationVSP_046975Add
BLAST
Alternative sequencei754 – 7541Missing in isoform 3 and isoform 5. 2 PublicationsVSP_026389

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ004832 mRNA. Translation: CAA06164.1.
AK294021 mRNA. Translation: BAG57380.1.
AK302462 mRNA. Translation: BAH13718.1.
AC008878 Genomic DNA. No translation available.
AC009003 Genomic DNA. No translation available.
CH471139 Genomic DNA. Translation: EAW69029.1.
BC038229 mRNA. Translation: AAH38229.1.
BC050553 mRNA. Translation: AAH50553.1.
BC051768 mRNA. Translation: AAH51768.1.
AL050362 mRNA. Translation: CAB43674.1.
CCDSiCCDS32891.1. [Q8IY17-2]
CCDS54206.1. [Q8IY17-4]
CCDS54207.1. [Q8IY17-5]
CCDS59343.1. [Q8IY17-3]
RefSeqiNP_001159583.1. NM_001166111.1. [Q8IY17-4]
NP_001159584.1. NM_001166112.1. [Q8IY17-5]
NP_001159585.1. NM_001166113.1. [Q8IY17-2]
NP_001159586.1. NM_001166114.1. [Q8IY17-3]
NP_006693.3. NM_006702.4. [Q8IY17-2]
UniGeneiHs.631863.

Genome annotation databases

EnsembliENST00000221249; ENSP00000221249; ENSG00000032444. [Q8IY17-2]
ENST00000414982; ENSP00000407509; ENSG00000032444. [Q8IY17-4]
ENST00000450331; ENSP00000394348; ENSG00000032444. [Q8IY17-2]
ENST00000545201; ENSP00000443323; ENSG00000032444. [Q8IY17-5]
ENST00000600737; ENSP00000473211; ENSG00000032444. [Q8IY17-3]
GeneIDi10908.
KEGGihsa:10908.
UCSCiuc002mgq.2. human. [Q8IY17-2]
uc002mgs.3. human. [Q8IY17-3]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ004832 mRNA. Translation: CAA06164.1.
AK294021 mRNA. Translation: BAG57380.1.
AK302462 mRNA. Translation: BAH13718.1.
AC008878 Genomic DNA. No translation available.
AC009003 Genomic DNA. No translation available.
CH471139 Genomic DNA. Translation: EAW69029.1.
BC038229 mRNA. Translation: AAH38229.1.
BC050553 mRNA. Translation: AAH50553.1.
BC051768 mRNA. Translation: AAH51768.1.
AL050362 mRNA. Translation: CAB43674.1.
CCDSiCCDS32891.1. [Q8IY17-2]
CCDS54206.1. [Q8IY17-4]
CCDS54207.1. [Q8IY17-5]
CCDS59343.1. [Q8IY17-3]
RefSeqiNP_001159583.1. NM_001166111.1. [Q8IY17-4]
NP_001159584.1. NM_001166112.1. [Q8IY17-5]
NP_001159585.1. NM_001166113.1. [Q8IY17-2]
NP_001159586.1. NM_001166114.1. [Q8IY17-3]
NP_006693.3. NM_006702.4. [Q8IY17-2]
UniGeneiHs.631863.

3D structure databases

ProteinModelPortaliQ8IY17.
SMRiQ8IY17. Positions 527-714.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi116114. 11 interactions.
STRINGi9606.ENSP00000407509.

Chemistry

ChEMBLiCHEMBL2189129.

PTM databases

PhosphoSiteiQ8IY17.

Polymorphism and mutation databases

BioMutaiPNPLA6.
DMDMi150403921.

Proteomic databases

MaxQBiQ8IY17.
PaxDbiQ8IY17.
PRIDEiQ8IY17.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000221249; ENSP00000221249; ENSG00000032444. [Q8IY17-2]
ENST00000414982; ENSP00000407509; ENSG00000032444. [Q8IY17-4]
ENST00000450331; ENSP00000394348; ENSG00000032444. [Q8IY17-2]
ENST00000545201; ENSP00000443323; ENSG00000032444. [Q8IY17-5]
ENST00000600737; ENSP00000473211; ENSG00000032444. [Q8IY17-3]
GeneIDi10908.
KEGGihsa:10908.
UCSCiuc002mgq.2. human. [Q8IY17-2]
uc002mgs.3. human. [Q8IY17-3]

Organism-specific databases

CTDi10908.
GeneCardsiGC19P007598.
HGNCiHGNC:16268. PNPLA6.
HPAiHPA007522.
MIMi215470. phenotype.
245800. phenotype.
275400. phenotype.
603197. gene.
612020. phenotype.
neXtProtiNX_Q8IY17.
Orphaneti1180. Ataxia - hypogonadism - choroidal dystrophy.
139480. Autosomal recessive spastic paraplegia type 39.
1173. Cerebellar ataxia - hypogonadism.
PharmGKBiPA145148268.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiCOG0664.
GeneTreeiENSGT00390000002533.
HOGENOMiHOG000016081.
HOVERGENiHBG053067.
InParanoidiQ8IY17.
KOiK14676.
OMAiQQLQGPF.
OrthoDBiEOG7QRQT1.
PhylomeDBiQ8IY17.
TreeFamiTF300519.

Miscellaneous databases

ChiTaRSiPNPLA6. human.
GeneWikiiNeuropathy_target_esterase.
GenomeRNAii10908.
NextBioi35535401.
PROiQ8IY17.
SOURCEiSearch...

Gene expression databases

BgeeiQ8IY17.
CleanExiHS_PNPLA6.
ExpressionAtlasiQ8IY17. baseline and differential.
GenevisibleiQ8IY17. HS.

Family and domain databases

Gene3Di2.60.120.10. 3 hits.
InterProiIPR016035. Acyl_Trfase/lysoPLipase.
IPR018490. cNMP-bd-like.
IPR000595. cNMP-bd_dom.
IPR001423. LysoPLipase_patatin_CS.
IPR002641. Patatin/PLipase_A2-rel.
IPR014710. RmlC-like_jellyroll.
[Graphical view]
PfamiPF00027. cNMP_binding. 3 hits.
PF01734. Patatin. 1 hit.
[Graphical view]
SMARTiSM00100. cNMP. 3 hits.
[Graphical view]
SUPFAMiSSF51206. SSF51206. 3 hits.
SSF52151. SSF52151. 1 hit.
PROSITEiPS50042. CNMP_BINDING_3. 3 hits.
PS01237. UPF0028. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Neuropathy target esterase and a homologous Drosophila neurodegeneration-associated mutant protein contain a novel domain conserved from bacteria to man."
    Lush M.J., Li Y., Read D.J., Willis A.C., Glynn P.
    Biochem. J. 332:1-4(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), GLYCOSYLATION, TISSUE SPECIFICITY.
    Tissue: Fetal brain.
  2. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 4 AND 5), VARIANT PRO-403.
    Tissue: Cerebellum.
  3. "The DNA sequence and biology of human chromosome 19."
    Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S., Carrano A.V.
    , Caoile C., Chan Y.M., Christensen M., Cleland C.A., Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M., Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V., Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D., McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I., Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L., Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J., Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E., Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M., Rubin E.M., Lucas S.M.
    Nature 428:529-535(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 34-1366 (ISOFORM 3), VARIANTS PRO-403 AND ARG-1024.
    Tissue: Brain, Duodenum and Testis.
  6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 985-1366 (ISOFORMS 1/2).
    Tissue: Brain.
  7. "The pathogenesis of organophosphate polyneuropathy."
    Lotti M.
    Crit. Rev. Toxicol. 21:465-487(1991) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION.
  8. "Neuropathy target esterase and its yeast homologue degrade phosphatidylcholine to glycerophosphocholine in living cells."
    Zaccheo O., Dinsdale D., Meacock P.A., Glynn P.
    J. Biol. Chem. 279:24024-24033(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, ENZYME REGULATION, SUBCELLULAR LOCATION.
  9. "Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle."
    Daub H., Olsen J.V., Bairlein M., Gnad F., Oppermann F.S., Korner R., Greff Z., Keri G., Stemmann O., Mann M.
    Mol. Cell 31:438-448(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-345, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  10. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-345; THR-352 AND SER-353, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  11. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
    Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
    Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-345, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  12. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  13. "Loss-of-function mutations in PNPLA6 encoding neuropathy target esterase underlie pubertal failure and neurological deficits in Gordon Holmes syndrome."
    Topaloglu A.K., Lomniczi A., Kretzschmar D., Dissen G.A., Kotan L.D., McArdle C.A., Koc A.F., Hamel B.C., Guclu M., Papatya E.D., Eren E., Mengen E., Gurbuz F., Cook M., Castellano J.M., Kekil M.B., Mungan N.O., Yuksel B., Ojeda S.R.
    J. Clin. Endocrinol. Metab. 99:E2067-E2075(2014) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN BNHS, VARIANTS BNHS CYS-1138; CYS-1166 AND TRP-1350.
  14. "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."
    Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D., Wang L., Ye M., Zou H.
    J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-411 AND THR-455, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Liver.
  15. Cited for: INVOLVEMENT IN SPG39, VARIANTS SPG39 HIS-929 AND VAL-1051.
  16. Cited for: TISSUE SPECIFICITY, INVOLVEMENT IN LNMS, INVOLVEMENT IN OMCS, VARIANT LNMS ARG-717, VARIANTS OMCS GLN-1090; ARG-1120; SER-1167 AND ALA-1206.
  17. Cited for: VARIANTS SPG39 ILE-254 AND GLU-831, VARIANTS BNHS TRP-569; LEU-1036; ILE-1049; SER-1057; MET-1101 AND LEU-1113, VARIANTS GLY-1091 AND GLY-1353.

Entry informationi

Entry nameiPLPL6_HUMAN
AccessioniPrimary (citable) accession number: Q8IY17
Secondary accession number(s): A6NGQ0
, B4DFB9, B7Z7T2, F5H5K9, J3KQS3, O60859, Q86W58, Q9UG58
Entry historyi
Integrated into UniProtKB/Swiss-Prot: June 26, 2007
Last sequence update: June 26, 2007
Last modified: July 22, 2015
This is version 103 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.