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Q8IY17

- PLPL6_HUMAN

UniProt

Q8IY17 - PLPL6_HUMAN

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Protein

Neuropathy target esterase

Gene
PNPLA6, NTE
Organism
Homo sapiens (Human)
Status
Reviewed - 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 – 10051 By 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

  1. lysophospholipase activity Source: UniProtKB-EC

GO - Biological processi

  1. angiogenesis Source: Ensembl
  2. cell death Source: UniProtKB-KW
  3. lipid catabolic process Source: UniProtKB-KW
  4. organ morphogenesis Source: Ensembl
  5. phosphatidylcholine metabolic process Source: InterPro
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: Chromosome 19

Organism-specific databases

HGNCiHGNC:16268. PNPLA6.

Subcellular locationi

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.1 Publication

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 5050Lumenal Reviewed predictionAdd
BLAST
Transmembranei51 – 7121Helical; Reviewed predictionAdd
BLAST
Topological domaini72 – 13661295Cytoplasmic Reviewed predictionAdd
BLAST

GO - Cellular componenti

  1. endoplasmic reticulum membrane Source: UniProtKB-SubCell
  2. integral component of membrane Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Involvement in diseasei

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.1 Publication
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti254 – 2541V → I in SPG39.
VAR_071091
Natural varianti831 – 8311G → E in SPG39.
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) [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.
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti569 – 5691G → W in BNHS.
VAR_071092
Natural varianti1036 – 10361S → L in BNHS.
VAR_071094
Natural varianti1049 – 10491T → I in BNHS.
VAR_071095
Natural varianti1057 – 10571F → S in BNHS.
VAR_071096
Natural varianti1101 – 11011V → M in BNHS.
VAR_071098
Natural varianti1113 – 11131P → L in BNHS.
VAR_071099

Keywords - Diseasei

Disease mutation, Hereditary spastic paraplegia, Hypogonadotropic hypogonadism, Neurodegeneration

Organism-specific databases

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

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...) Reviewed prediction
Modified residuei345 – 3451Phosphoserine3 Publications
Modified residuei352 – 3521Phosphothreonine1 Publication
Modified residuei353 – 3531Phosphoserine1 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.1 Publication

Gene expression databases

ArrayExpressiQ8IY17.
BgeeiQ8IY17.
CleanExiHS_PNPLA6.
GenevestigatoriQ8IY17.

Organism-specific databases

HPAiHPA007522.

Interactioni

Protein-protein interaction databases

BioGridi116114. 3 interactions.
STRINGi9606.ENSP00000221249.

Structurei

3D structure databases

ProteinModelPortaliQ8IY17.
SMRiQ8IY17. Positions 527-714.

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.
Contains 1 patatin domain.

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiCOG0664.
HOVERGENiHBG053067.
InParanoidiQ8IY17.
KOiK14676.
OMAiKQRAREW.
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. Align

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

MGTSSHGLAT NSSGAKVAER DGFQDVLAPG EGSAGRICGA QPVPFVPQVL     50
GVMIGAGVAV VVTAVLILLV VRRLRVPKTP APDGPRYRFR KRDKVLFYGR 100
KIMRKVSQST SSLVDTSVSA TSRPRMRKKL KMLNIAKKIL RIQKETPTLQ 150
RKEPPPAVLE ADLTEGDLAN SHLPSEVLYM LKNVRVLGHF EKPLFLELCR 200
HMVFQRLGQG DYVFRPGQPD ASIYVVQDGL LELCLPGPDG KECVVKEVVP 250
GDSVNSLLSI LDVITGHQHP QRTVSARAAR DSTVLRLPVE AFSAVFTKYP 300
ESLVRVVQII MVRLQRVTFL ALHNYLGLTN ELFSHEIQPL RLFPSPGLPT 350
RTSPVRGSKR MVSTSATDEP RETPGRPPDP TGAPLPGPTG DPVKPTSLET 400
PSAPLLSRCV SMPGDISGLQ GGPRSDFDMA YERGRISVSL QEEASGGSLA 450
APARTPTQEP REQPAGACEY SYCEDESATG GCPFGPYQGR QTSSIFEAAK 500
QELAKLMRIE DPSLLNSRVL LHHAKAGTII ARQGDQDVSL HFVLWGCLHV 550
YQRMIDKAED VCLFVAQPGE LVGQLAVLTG EPLIFTLRAQ RDCTFLRISK 600
SDFYEIMRAQ PSVVLSAAHT VAARMSPFVR QMDFAIDWTA VEAGRALYRQ 650
GDRSDCTYIV LNGRLRSVIQ RGSGKKELVG EYGRGDLIGV VEALTRQPRA 700
TTVHAVRDTE LAKLPEGTLG HIKRRYPQVV TRLIHLLSQK ILGNLQQLQG 750
PFPAGSGLGV PPHSELTNPA SNLATVAILP VCAEVPMVAF TLELQHALQA 800
IGPTLLLNSD IIRARLGASA LDSIQEFRLS GWLAQQEDAH RIVLYQTDAS 850
LTPWTVRCLR QADCILIVGL GDQEPTLGQL EQMLENTAVR ALKQLVLLHR 900
EEGAGPTRTV EWLNMRSWCS GHLHLRCPRR LFSRRSPAKL HELYEKVFSR 950
RADRHSDFSR LARVLTGNTI ALVLGGGGAR GCSHIGVLKA LEEAGVPVDL 1000
VGGTSIGSFI GALYAEERSA SRTKQRAREW AKSMTSVLEP VLDLTYPVTS 1050
MFTGSAFNRS IHRVFQDKQI EDLWLPYFNV TTDITASAMR VHKDGSLWRY 1100
VRASMTLSGY LPPLCDPKDG HLLMDGGYIN NLPADIARSM GAKTVIAIDV 1150
GSQDETDLST YGDSLSGWWL LWKRLNPWAD KVKVPDMAEI QSRLAYVSCV 1200
RQLEVVKSSS YCEYLRPPID CFKTMDFGKF DQIYDVGYQY GKAVFGGWSR 1250
GNVIEKMLTD RRSTDLNESR RADVLAFPSS GFTDLAEIVS RIEPPTSYVS 1300
DGCADGEESD CLTEYEEDAG PDCSRDEGGS PEGASPSTAS EMEEEKSILR 1350
QRRCLPQEPP GSATDA 1366
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

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti254 – 2541V → I in SPG39.
VAR_071091
Natural varianti403 – 4031A → P.2 Publications
Corresponds to variant rs17854645 [ dbSNP | Ensembl ].
VAR_032949
Natural varianti569 – 5691G → W in BNHS.
VAR_071092
Natural varianti831 – 8311G → E in SPG39.
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.
VAR_071094
Natural varianti1049 – 10491T → I in BNHS.
VAR_071095
Natural varianti1051 – 10511M → V in SPG39. 1 Publication
VAR_044410
Natural varianti1057 – 10571F → S in BNHS.
VAR_071096
Natural varianti1091 – 10911V → G Found in a patient with sporadic ataxia; unknown pathological significance.
VAR_071097
Natural varianti1101 – 11011V → M in BNHS.
VAR_071098
Natural varianti1113 – 11131P → L in BNHS.
VAR_071099
Natural varianti1353 – 13531R → G Found in a patient with Gordon-Holmes syndrome; unknown pathological significance.
VAR_071100

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 4848MGTSS…PFVPQ → MEAPLQTGM in isoform 2 and isoform 5. VSP_026388Add
BLAST
Alternative sequencei1 – 11M → MEAPLQTGMM in isoform 4. VSP_046064
Alternative sequencei511 – 53626Missing in isoform 5. VSP_046975Add
BLAST
Alternative sequencei754 – 7541Missing in isoform 3 and isoform 5. VSP_026389

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti34 – 374AGRI → TRPV in AAH38229. 1 Publication
Sequence conflicti639 – 6391T → A in BAG57380. 1 Publication
Sequence conflicti705 – 7051A → T in AAH38229. 1 Publication
Sequence conflicti985 – 9851I → W in CAB43674. 1 Publication
Sequence conflicti1169 – 11691W → V in CAB43674. 1 Publication
Sequence conflicti1287 – 12871E → G in CAB43674. 1 Publication
Sequence conflicti1293 – 12931E → K in BAH13718. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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]

Polymorphism databases

DMDMi150403921.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS32891.1. [Q8IY17-2 ]
CCDS54206.1. [Q8IY17-4 ]
CCDS54207.1. [Q8IY17-5 ]
CCDS59343.1. [Q8IY17-3 ]
RefSeqi NP_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 ]
UniGenei Hs.631863.

3D structure databases

ProteinModelPortali Q8IY17.
SMRi Q8IY17. Positions 527-714.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 116114. 3 interactions.
STRINGi 9606.ENSP00000221249.

Chemistry

ChEMBLi CHEMBL2189129.

PTM databases

PhosphoSitei Q8IY17.

Polymorphism databases

DMDMi 150403921.

Proteomic databases

MaxQBi Q8IY17.
PaxDbi Q8IY17.
PRIDEi Q8IY17.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000221249 ; ENSP00000221249 ; ENSG00000032444 . [Q8IY17-2 ]
ENST00000414982 ; ENSP00000407509 ; ENSG00000032444 . [Q8IY17-4 ]
ENST00000450331 ; ENSP00000394348 ; ENSG00000032444 . [Q8IY17-2 ]
ENST00000545201 ; ENSP00000443323 ; ENSG00000032444 . [Q8IY17-5 ]
ENST00000600737 ; ENSP00000473211 ; ENSG00000032444 . [Q8IY17-3 ]
GeneIDi 10908.
KEGGi hsa:10908.
UCSCi uc002mgq.2. human. [Q8IY17-2 ]
uc002mgs.3. human. [Q8IY17-3 ]

Organism-specific databases

CTDi 10908.
GeneCardsi GC19P007598.
HGNCi HGNC:16268. PNPLA6.
HPAi HPA007522.
MIMi 215470. phenotype.
603197. gene.
612020. phenotype.
neXtProti NX_Q8IY17.
Orphaneti 1180. Ataxia - hypogonadism - choroidal dystrophy.
139480. Autosomal recessive spastic paraplegia type 39.
1173. Cerebellar ataxia - hypogonadism.
PharmGKBi PA145148268.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG0664.
HOVERGENi HBG053067.
InParanoidi Q8IY17.
KOi K14676.
OMAi KQRAREW.
OrthoDBi EOG7QRQT1.
PhylomeDBi Q8IY17.
TreeFami TF300519.

Miscellaneous databases

GeneWikii Neuropathy_target_esterase.
GenomeRNAii 10908.
NextBioi 35535401.
PROi Q8IY17.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q8IY17.
Bgeei Q8IY17.
CleanExi HS_PNPLA6.
Genevestigatori Q8IY17.

Family and domain databases

Gene3Di 2.60.120.10. 3 hits.
InterProi IPR016035. 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 ]
Pfami PF00027. cNMP_binding. 3 hits.
PF01734. Patatin. 1 hit.
[Graphical view ]
SMARTi SM00100. cNMP. 3 hits.
[Graphical view ]
SUPFAMi SSF51206. SSF51206. 3 hits.
SSF52151. SSF52151. 1 hit.
PROSITEi PS50042. CNMP_BINDING_3. 3 hits.
PS01237. UPF0028. 1 hit.
[Graphical view ]
ProtoNeti Search...

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. Cited for: VARIANTS SPG39 HIS-929 AND VAL-1051.
  14. 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: September 3, 2014
This is version 93 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

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