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Q8IY17

- PLPL6_HUMAN

UniProt

Q8IY17 - PLPL6_HUMAN

Protein

Neuropathy target esterase

Gene

PNPLA6

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 94 (01 Oct 2014)
      Sequence version 2 (26 Jun 2007)
      Previous versions | rss
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    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

    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

    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 1 Publication; Single-pass type I membrane protein 1 Publication; Cytoplasmic side 1 Publication
    Note: Anchored to the cytoplasmic face of the endoplasmic reticulum by its amino-terminal transmembrane segment.

    GO - Cellular componenti

    1. endoplasmic reticulum membrane Source: UniProtKB-SubCell
    2. integral component of membrane Source: UniProtKB-KW
    3. membrane Source: UniProtKB

    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.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    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) [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.1 Publication
    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. 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 varianti1101 – 11011V → M in BNHS. 1 Publication
    VAR_071098
    Natural varianti1113 – 11131P → L in BNHS. 1 Publication
    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...)Sequence Analysis
    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.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

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

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei51 – 7121HelicalSequence AnalysisAdd
    BLAST

    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.
    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

    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 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 varianti1091 – 10911V → G Found in a patient with sporadic ataxia; 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 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:
    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

    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: October 1, 2014
    This is version 94 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