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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)DescriptionActionsGraphical viewLength
Active sitei1005NucleophilePROSITE-ProRule annotation1
Active sitei1125Proton acceptorPROSITE-ProRule annotation1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi186 – 313cNMP 1Add BLAST128
Nucleotide bindingi502 – 624cNMP 2Add BLAST123
Nucleotide bindingi620 – 740cNMP 3Add BLAST121

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Hydrolase

Keywords - Biological processi

Lipid degradation, Lipid metabolism

Enzyme and pathway databases

BioCyciZFISH:HS00485-MONOMER.
ReactomeiR-HSA-6814848. Glycerophospholipid catabolism.

Chemistry databases

SwissLipidsiSLP:000000615.

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
Proteomesi
  • UP000005640 Componenti: Chromosome 19

Organism-specific databases

HGNCiHGNC:16268. PNPLA6.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 50LumenalSequence analysisAdd BLAST50
Transmembranei51 – 71HelicalSequence analysisAdd BLAST21
Topological domaini72 – 1366CytoplasmicSequence analysisAdd BLAST1295

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)DescriptionActionsGraphical viewLength
Natural variantiVAR_071091254V → I in SPG39. 1 Publication1
Natural variantiVAR_071093831G → E in SPG39. 1 Publication1
Natural variantiVAR_044409929R → H in SPG39. 1 Publication1
Natural variantiVAR_0444101051M → V in SPG39. 1 Publication1
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)DescriptionActionsGraphical viewLength
Natural variantiVAR_071092569G → W in BNHS. 1 Publication1
Natural variantiVAR_0710941036S → L in BNHS. 1 Publication1
Natural variantiVAR_0710951049T → I in BNHS. 1 Publication1
Natural variantiVAR_0710961057F → S in BNHS. 1 Publication1
Natural variantiVAR_0710971091V → G Found in a patient with sporadic ataxia and BNHS; unknown pathological significance. 1 Publication1
Natural variantiVAR_0710981101V → M in BNHS. 1 Publication1
Natural variantiVAR_0710991113P → L in BNHS. 1 Publication1
Natural variantiVAR_0734121138R → C in BNHS. 1 Publication1
Natural variantiVAR_0734131166S → C in BNHS. 1 Publication1
Natural variantiVAR_0734161350R → W in BNHS. 1 Publication1
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)DescriptionActionsGraphical viewLength
Natural variantiVAR_073409717G → R in LNMS. 1 Publication1
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)DescriptionActionsGraphical viewLength
Natural variantiVAR_0734101090R → Q in OMCS. 1 Publication1
Natural variantiVAR_0734111120G → R in OMCS. 1 Publication1
Natural variantiVAR_0734141167G → S in OMCS. 1 Publication1
Natural variantiVAR_0734151206V → A in OMCS. 1 Publication1

Keywords - Diseasei

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

Organism-specific databases

DisGeNETi10908.
MalaCardsiPNPLA6.
MIMi215470. phenotype.
245800. phenotype.
275400. phenotype.
612020. phenotype.
OpenTargetsiENSG00000032444.
Orphaneti1180. Ataxia - hypogonadism - choroidal dystrophy.
139480. Autosomal recessive spastic paraplegia type 39.
1173. Cerebellar ataxia - hypogonadism.
PharmGKBiPA145148268.

Chemistry databases

ChEMBLiCHEMBL2189129.

Polymorphism and mutation databases

BioMutaiPNPLA6.
DMDMi150403921.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002921991 – 1366Neuropathy target esteraseAdd BLAST1366

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi11N-linked (GlcNAc...)Sequence analysis1
Modified residuei345PhosphoserineCombined sources1
Modified residuei352PhosphothreonineCombined sources1
Modified residuei353PhosphoserineCombined sources1
Modified residuei363PhosphoserineCombined sources1
Modified residuei411PhosphoserineCombined sources1
Modified residuei455PhosphothreonineCombined sources1

Post-translational modificationi

Glycosylated.1 Publication

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

EPDiQ8IY17.
MaxQBiQ8IY17.
PaxDbiQ8IY17.
PeptideAtlasiQ8IY17.
PRIDEiQ8IY17.

PTM databases

iPTMnetiQ8IY17.
PhosphoSitePlusiQ8IY17.

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

BgeeiENSG00000032444.
CleanExiHS_PNPLA6.
ExpressionAtlasiQ8IY17. baseline and differential.
GenevisibleiQ8IY17. HS.

Organism-specific databases

HPAiHPA007522.

Interactioni

Protein-protein interaction databases

BioGridi116114. 28 interactors.
IntActiQ8IY17. 16 interactors.
STRINGi9606.ENSP00000407509.

Structurei

3D structure databases

ProteinModelPortaliQ8IY17.
SMRiQ8IY17.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini972 – 1138PNPLAPROSITE-ProRule annotationAdd BLAST167

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi976 – 981GXGXXGPROSITE-ProRule annotation6
Motifi1003 – 1007GXSXGPROSITE-ProRule annotation5
Motifi1125 – 1127DGA/GPROSITE-ProRule annotation3

Sequence similaritiesi

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

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG2968. Eukaryota.
COG0664. LUCA.
COG1752. LUCA.
GeneTreeiENSGT00390000002533.
HOGENOMiHOG000016081.
HOVERGENiHBG053067.
InParanoidiQ8IY17.
KOiK14676.
OMAiIRMSAFV.
OrthoDBiEOG091G00XM.
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.
PS51635. PNPLA. 1 hit.
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)DescriptionActionsGraphical viewLength
Sequence conflicti34 – 37AGRI → TRPV in AAH38229 (PubMed:15489334).Curated4
Sequence conflicti639T → A in BAG57380 (PubMed:14702039).Curated1
Sequence conflicti705A → T in AAH38229 (PubMed:15489334).Curated1
Sequence conflicti985I → W in CAB43674 (PubMed:17974005).Curated1
Sequence conflicti1169W → V in CAB43674 (PubMed:17974005).Curated1
Sequence conflicti1287E → G in CAB43674 (PubMed:17974005).Curated1
Sequence conflicti1293E → K in BAH13718 (PubMed:15057824).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_071091254V → I in SPG39. 1 Publication1
Natural variantiVAR_032949403A → P.2 PublicationsCorresponds to variant rs17854645dbSNPEnsembl.1
Natural variantiVAR_071092569G → W in BNHS. 1 Publication1
Natural variantiVAR_073409717G → R in LNMS. 1 Publication1
Natural variantiVAR_071093831G → E in SPG39. 1 Publication1
Natural variantiVAR_044409929R → H in SPG39. 1 Publication1
Natural variantiVAR_0329501024K → R.1 PublicationCorresponds to variant rs17854647dbSNPEnsembl.1
Natural variantiVAR_0710941036S → L in BNHS. 1 Publication1
Natural variantiVAR_0710951049T → I in BNHS. 1 Publication1
Natural variantiVAR_0444101051M → V in SPG39. 1 Publication1
Natural variantiVAR_0710961057F → S in BNHS. 1 Publication1
Natural variantiVAR_0734101090R → Q in OMCS. 1 Publication1
Natural variantiVAR_0710971091V → G Found in a patient with sporadic ataxia and BNHS; unknown pathological significance. 1 Publication1
Natural variantiVAR_0710981101V → M in BNHS. 1 Publication1
Natural variantiVAR_0710991113P → L in BNHS. 1 Publication1
Natural variantiVAR_0734111120G → R in OMCS. 1 Publication1
Natural variantiVAR_0734121138R → C in BNHS. 1 Publication1
Natural variantiVAR_0734131166S → C in BNHS. 1 Publication1
Natural variantiVAR_0734141167G → S in OMCS. 1 Publication1
Natural variantiVAR_0734151206V → A in OMCS. 1 Publication1
Natural variantiVAR_0734161350R → W in BNHS. 1 Publication1
Natural variantiVAR_0711001353R → G Found in a patient with Gordon-Holmes syndrome; unknown pathological significance. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0263881 – 48MGTSS…PFVPQ → MEAPLQTGM in isoform 2 and isoform 5. 3 PublicationsAdd BLAST48
Alternative sequenceiVSP_0460641M → MEAPLQTGMM in isoform 4. 1 Publication1
Alternative sequenceiVSP_046975511 – 536Missing in isoform 5. 1 PublicationAdd BLAST26
Alternative sequenceiVSP_026389754Missing in isoform 3 and isoform 5. 2 Publications1

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.3. human. [Q8IY17-1]

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.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi116114. 28 interactors.
IntActiQ8IY17. 16 interactors.
STRINGi9606.ENSP00000407509.

Chemistry databases

ChEMBLiCHEMBL2189129.
SwissLipidsiSLP:000000615.

PTM databases

iPTMnetiQ8IY17.
PhosphoSitePlusiQ8IY17.

Polymorphism and mutation databases

BioMutaiPNPLA6.
DMDMi150403921.

Proteomic databases

EPDiQ8IY17.
MaxQBiQ8IY17.
PaxDbiQ8IY17.
PeptideAtlasiQ8IY17.
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.3. human. [Q8IY17-1]

Organism-specific databases

CTDi10908.
DisGeNETi10908.
GeneCardsiPNPLA6.
HGNCiHGNC:16268. PNPLA6.
HPAiHPA007522.
MalaCardsiPNPLA6.
MIMi215470. phenotype.
245800. phenotype.
275400. phenotype.
603197. gene.
612020. phenotype.
neXtProtiNX_Q8IY17.
OpenTargetsiENSG00000032444.
Orphaneti1180. Ataxia - hypogonadism - choroidal dystrophy.
139480. Autosomal recessive spastic paraplegia type 39.
1173. Cerebellar ataxia - hypogonadism.
PharmGKBiPA145148268.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2968. Eukaryota.
COG0664. LUCA.
COG1752. LUCA.
GeneTreeiENSGT00390000002533.
HOGENOMiHOG000016081.
HOVERGENiHBG053067.
InParanoidiQ8IY17.
KOiK14676.
OMAiIRMSAFV.
OrthoDBiEOG091G00XM.
PhylomeDBiQ8IY17.
TreeFamiTF300519.

Enzyme and pathway databases

BioCyciZFISH:HS00485-MONOMER.
ReactomeiR-HSA-6814848. Glycerophospholipid catabolism.

Miscellaneous databases

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

Gene expression databases

BgeeiENSG00000032444.
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.
PS51635. PNPLA. 1 hit.
PS01237. UPF0028. 1 hit.
[Graphical view]
ProtoNetiSearch...

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: November 30, 2016
This is version 116 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

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 one 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.