Q8IY17 (PLPL6_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Neuropathy target esterase
EC=3.1.1.5

Alternative name(s):
Patatin-like phospholipase domain-containing protein 6

Gene names

Name:	PNPLA6
Synonyms:	NTE

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	1366 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	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. Ref.7 Ref.8
Catalytic activity	2-lysophosphatidylcholine + H2O = glycerophosphocholine + a carboxylate.
Enzyme regulation	Inhibited by a series a OPs such as mipafox (MPX), phenyl saligenin phosphate (PSP), phenyl dipentyl phosphinate (PDPP), diisopropyl fluorophosphate and paraoxon. Ref.8
Subcellular location	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. Ref.8
Tissue specificity	Expressed in brain, placenta, kidney, neuron and skeletal muscle. Ref.1
Post-translational modification	Glycosylated. Ref.1
Involvement in disease	Spastic paraplegia 39, autosomal recessive (SPG39) [MIM:612020]: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG39 is associated with a motor axonopathy affecting upper and lower limbs and resulting in progressive wasting of distal upper and lower extremity muscles. Note: The disease is caused by mutations affecting the gene represented in this entry.
Sequence similarities	Belongs to the NTE family. Contains 3 cyclic nucleotide-binding domains. Contains 1 patatin domain.

Ontologies

Keywords
Biological process	Lipid degradation Lipid metabolism
Cellular component	Endoplasmic reticulum Membrane
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Disease mutation Hereditary spastic paraplegia Neurodegeneration
Domain	Repeat Transmembrane Transmembrane helix
Molecular function	Hydrolase
PTM	Glycoprotein Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	cell death Inferred from electronic annotation. Source: UniProtKB-KW lipid catabolic process Inferred from electronic annotation. Source: UniProtKB-KW phosphatidylcholine metabolic process Inferred from electronic annotation. Source: InterPro
Cellular_component	endoplasmic reticulum membrane Inferred from electronic annotation. Source: UniProtKB-SubCell integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW
Molecular_function	lysophospholipase activity Inferred from electronic annotation. Source: EC
Complete GO annotation...

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q8IY17-1)

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.

Isoform 2 (identifier: Q8IY17-2)

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

Isoform 3 (identifier: Q8IY17-3)

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

Note: No experimental confirmation available.

Isoform 4 (identifier: Q8IY17-4)

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

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 1366	1366	Neuropathy target esterase		PRO_0000292199
Regions
	Topological domain	1 – 50	50	Lumenal Potential
	Transmembrane	51 – 71	21	Helical; Potential
	Topological domain	72 – 1366	1295	Cytoplasmic Potential
	Domain	972 – 1138	167	Patatin
	Nucleotide binding	186 – 313	128	cNMP 1
	Nucleotide binding	502 – 624	123	cNMP 2
	Nucleotide binding	620 – 740	121	cNMP 3
	Motif	1003 – 1007	5	GXSXG
Sites
	Active site	1005	1	By similarity
Amino acid modifications
	Modified residue	345	1	Phosphoserine Ref.9 Ref.10 Ref.11
	Modified residue	352	1	Phosphothreonine Ref.10
	Modified residue	353	1	Phosphoserine Ref.10
	Glycosylation	11	1	N-linked (GlcNAc...) Potential
Natural variations
	Alternative sequence	1 – 48	48	MGTSS…PFVPQ → MEAPLQTGM in isoform 2.		VSP_026388
	Alternative sequence	1	1	M → MEAPLQTGMM in isoform 4.		VSP_046064
	Alternative sequence	754	1	Missing in isoform 3.		VSP_026389
	Natural variant	403	1	A → P. Ref.2 Ref.5 Corresponds to variant rs17854645 [ dbSNP | Ensembl ].		VAR_032949
	Natural variant	929	1	R → H in SPG39. Ref.13		VAR_044409
	Natural variant	1024	1	K → R. Ref.5 Corresponds to variant rs17854647 [ dbSNP | Ensembl ].		VAR_032950
	Natural variant	1051	1	M → V in SPG39. Ref.13		VAR_044410
Experimental info
	Sequence conflict	34 – 37	4	AGRI → TRPV in AAH38229. Ref.5
	Sequence conflict	639	1	T → A in BAG57380. Ref.2
	Sequence conflict	705	1	A → T in AAH38229. Ref.5
	Sequence conflict	985	1	I → W in CAB43674. Ref.6
	Sequence conflict	1169	1	W → V in CAB43674. Ref.6
	Sequence conflict	1287	1	E → G in CAB43674. Ref.6

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified June 26, 2007. Version 2. Checksum: 705E9A4E2195C887	FASTA	1,366	149,995
	10 20 30 40 50 60 MGTSSHGLAT NSSGAKVAER DGFQDVLAPG EGSAGRICGA QPVPFVPQVL GVMIGAGVAV 70 80 90 100 110 120 VVTAVLILLV VRRLRVPKTP APDGPRYRFR KRDKVLFYGR KIMRKVSQST SSLVDTSVSA 130 140 150 160 170 180 TSRPRMRKKL KMLNIAKKIL RIQKETPTLQ RKEPPPAVLE ADLTEGDLAN SHLPSEVLYM 190 200 210 220 230 240 LKNVRVLGHF EKPLFLELCR HMVFQRLGQG DYVFRPGQPD ASIYVVQDGL LELCLPGPDG 250 260 270 280 290 300 KECVVKEVVP GDSVNSLLSI LDVITGHQHP QRTVSARAAR DSTVLRLPVE AFSAVFTKYP 310 320 330 340 350 360 ESLVRVVQII MVRLQRVTFL ALHNYLGLTN ELFSHEIQPL RLFPSPGLPT RTSPVRGSKR 370 380 390 400 410 420 MVSTSATDEP RETPGRPPDP TGAPLPGPTG DPVKPTSLET PSAPLLSRCV SMPGDISGLQ 430 440 450 460 470 480 GGPRSDFDMA YERGRISVSL QEEASGGSLA APARTPTQEP REQPAGACEY SYCEDESATG 490 500 510 520 530 540 GCPFGPYQGR QTSSIFEAAK QELAKLMRIE DPSLLNSRVL LHHAKAGTII ARQGDQDVSL 550 560 570 580 590 600 HFVLWGCLHV YQRMIDKAED VCLFVAQPGE LVGQLAVLTG EPLIFTLRAQ RDCTFLRISK 610 620 630 640 650 660 SDFYEIMRAQ PSVVLSAAHT VAARMSPFVR QMDFAIDWTA VEAGRALYRQ GDRSDCTYIV 670 680 690 700 710 720 LNGRLRSVIQ RGSGKKELVG EYGRGDLIGV VEALTRQPRA TTVHAVRDTE LAKLPEGTLG 730 740 750 760 770 780 HIKRRYPQVV TRLIHLLSQK ILGNLQQLQG PFPAGSGLGV PPHSELTNPA SNLATVAILP 790 800 810 820 830 840 VCAEVPMVAF TLELQHALQA IGPTLLLNSD IIRARLGASA LDSIQEFRLS GWLAQQEDAH 850 860 870 880 890 900 RIVLYQTDAS LTPWTVRCLR QADCILIVGL GDQEPTLGQL EQMLENTAVR ALKQLVLLHR 910 920 930 940 950 960 EEGAGPTRTV EWLNMRSWCS GHLHLRCPRR LFSRRSPAKL HELYEKVFSR RADRHSDFSR 970 980 990 1000 1010 1020 LARVLTGNTI ALVLGGGGAR GCSHIGVLKA LEEAGVPVDL VGGTSIGSFI GALYAEERSA 1030 1040 1050 1060 1070 1080 SRTKQRAREW AKSMTSVLEP VLDLTYPVTS MFTGSAFNRS IHRVFQDKQI EDLWLPYFNV 1090 1100 1110 1120 1130 1140 TTDITASAMR VHKDGSLWRY VRASMTLSGY LPPLCDPKDG HLLMDGGYIN NLPADIARSM 1150 1160 1170 1180 1190 1200 GAKTVIAIDV GSQDETDLST YGDSLSGWWL LWKRLNPWAD KVKVPDMAEI QSRLAYVSCV 1210 1220 1230 1240 1250 1260 RQLEVVKSSS YCEYLRPPID CFKTMDFGKF DQIYDVGYQY GKAVFGGWSR GNVIEKMLTD 1270 1280 1290 1300 1310 1320 RRSTDLNESR RADVLAFPSS GFTDLAEIVS RIEPPTSYVS DGCADGEESD CLTEYEEDAG 1330 1340 1350 1360 PDCSRDEGGS PEGASPSTAS EMEEEKSILR QRRCLPQEPP GSATDA
	Isoform 2 [UniParc]. Checksum: E823248C9B29DD84	FASTA	1,327	146,216
	10 20 30 40 50 60 MEAPLQTGMV LGVMIGAGVA VVVTAVLILL VVRRLRVPKT PAPDGPRYRF RKRDKVLFYG 70 80 90 100 110 120 RKIMRKVSQS TSSLVDTSVS ATSRPRMRKK LKMLNIAKKI LRIQKETPTL QRKEPPPAVL 130 140 150 160 170 180 EADLTEGDLA NSHLPSEVLY MLKNVRVLGH FEKPLFLELC RHMVFQRLGQ GDYVFRPGQP 190 200 210 220 230 240 DASIYVVQDG LLELCLPGPD GKECVVKEVV PGDSVNSLLS ILDVITGHQH PQRTVSARAA 250 260 270 280 290 300 RDSTVLRLPV EAFSAVFTKY PESLVRVVQI IMVRLQRVTF LALHNYLGLT NELFSHEIQP 310 320 330 340 350 360 LRLFPSPGLP TRTSPVRGSK RMVSTSATDE PRETPGRPPD PTGAPLPGPT GDPVKPTSLE 370 380 390 400 410 420 TPSAPLLSRC VSMPGDISGL QGGPRSDFDM AYERGRISVS LQEEASGGSL AAPARTPTQE 430 440 450 460 470 480 PREQPAGACE YSYCEDESAT GGCPFGPYQG RQTSSIFEAA KQELAKLMRI EDPSLLNSRV 490 500 510 520 530 540 LLHHAKAGTI IARQGDQDVS LHFVLWGCLH VYQRMIDKAE DVCLFVAQPG ELVGQLAVLT 550 560 570 580 590 600 GEPLIFTLRA QRDCTFLRIS KSDFYEIMRA QPSVVLSAAH TVAARMSPFV RQMDFAIDWT 610 620 630 640 650 660 AVEAGRALYR QGDRSDCTYI VLNGRLRSVI QRGSGKKELV GEYGRGDLIG VVEALTRQPR 670 680 690 700 710 720 ATTVHAVRDT ELAKLPEGTL GHIKRRYPQV VTRLIHLLSQ KILGNLQQLQ GPFPAGSGLG 730 740 750 760 770 780 VPPHSELTNP ASNLATVAIL PVCAEVPMVA FTLELQHALQ AIGPTLLLNS DIIRARLGAS 790 800 810 820 830 840 ALDSIQEFRL SGWLAQQEDA HRIVLYQTDA SLTPWTVRCL RQADCILIVG LGDQEPTLGQ 850 860 870 880 890 900 LEQMLENTAV RALKQLVLLH REEGAGPTRT VEWLNMRSWC SGHLHLRCPR RLFSRRSPAK 910 920 930 940 950 960 LHELYEKVFS RRADRHSDFS RLARVLTGNT IALVLGGGGA RGCSHIGVLK ALEEAGVPVD 970 980 990 1000 1010 1020 LVGGTSIGSF IGALYAEERS ASRTKQRARE WAKSMTSVLE PVLDLTYPVT SMFTGSAFNR 1030 1040 1050 1060 1070 1080 SIHRVFQDKQ IEDLWLPYFN VTTDITASAM RVHKDGSLWR YVRASMTLSG YLPPLCDPKD 1090 1100 1110 1120 1130 1140 GHLLMDGGYI NNLPADIARS MGAKTVIAID VGSQDETDLS TYGDSLSGWW LLWKRLNPWA 1150 1160 1170 1180 1190 1200 DKVKVPDMAE IQSRLAYVSC VRQLEVVKSS SYCEYLRPPI DCFKTMDFGK FDQIYDVGYQ 1210 1220 1230 1240 1250 1260 YGKAVFGGWS RGNVIEKMLT DRRSTDLNES RRADVLAFPS SGFTDLAEIV SRIEPPTSYV 1270 1280 1290 1300 1310 1320 SDGCADGEES DCLTEYEEDA GPDCSRDEGG SPEGASPSTA SEMEEEKSIL RQRRCLPQEP PGSATDA
	Isoform 3 [UniParc]. Checksum: 5EBEEC5A15759534	FASTA	1,365	149,924
	10 20 30 40 50 60 MGTSSHGLAT NSSGAKVAER DGFQDVLAPG EGSAGRICGA QPVPFVPQVL GVMIGAGVAV 70 80 90 100 110 120 VVTAVLILLV VRRLRVPKTP APDGPRYRFR KRDKVLFYGR KIMRKVSQST SSLVDTSVSA 130 140 150 160 170 180 TSRPRMRKKL KMLNIAKKIL RIQKETPTLQ RKEPPPAVLE ADLTEGDLAN SHLPSEVLYM 190 200 210 220 230 240 LKNVRVLGHF EKPLFLELCR HMVFQRLGQG DYVFRPGQPD ASIYVVQDGL LELCLPGPDG 250 260 270 280 290 300 KECVVKEVVP GDSVNSLLSI LDVITGHQHP QRTVSARAAR DSTVLRLPVE AFSAVFTKYP 310 320 330 340 350 360 ESLVRVVQII MVRLQRVTFL ALHNYLGLTN ELFSHEIQPL RLFPSPGLPT RTSPVRGSKR 370 380 390 400 410 420 MVSTSATDEP RETPGRPPDP TGAPLPGPTG DPVKPTSLET PSAPLLSRCV SMPGDISGLQ 430 440 450 460 470 480 GGPRSDFDMA YERGRISVSL QEEASGGSLA APARTPTQEP REQPAGACEY SYCEDESATG 490 500 510 520 530 540 GCPFGPYQGR QTSSIFEAAK QELAKLMRIE DPSLLNSRVL LHHAKAGTII ARQGDQDVSL 550 560 570 580 590 600 HFVLWGCLHV YQRMIDKAED VCLFVAQPGE LVGQLAVLTG EPLIFTLRAQ RDCTFLRISK 610 620 630 640 650 660 SDFYEIMRAQ PSVVLSAAHT VAARMSPFVR QMDFAIDWTA VEAGRALYRQ GDRSDCTYIV 670 680 690 700 710 720 LNGRLRSVIQ RGSGKKELVG EYGRGDLIGV VEALTRQPRA TTVHAVRDTE LAKLPEGTLG 730 740 750 760 770 780 HIKRRYPQVV TRLIHLLSQK ILGNLQQLQG PFPGSGLGVP PHSELTNPAS NLATVAILPV 790 800 810 820 830 840 CAEVPMVAFT LELQHALQAI GPTLLLNSDI IRARLGASAL DSIQEFRLSG WLAQQEDAHR 850 860 870 880 890 900 IVLYQTDASL TPWTVRCLRQ ADCILIVGLG DQEPTLGQLE QMLENTAVRA LKQLVLLHRE 910 920 930 940 950 960 EGAGPTRTVE WLNMRSWCSG HLHLRCPRRL FSRRSPAKLH ELYEKVFSRR ADRHSDFSRL 970 980 990 1000 1010 1020 ARVLTGNTIA LVLGGGGARG CSHIGVLKAL EEAGVPVDLV GGTSIGSFIG ALYAEERSAS 1030 1040 1050 1060 1070 1080 RTKQRAREWA KSMTSVLEPV LDLTYPVTSM FTGSAFNRSI HRVFQDKQIE DLWLPYFNVT 1090 1100 1110 1120 1130 1140 TDITASAMRV HKDGSLWRYV RASMTLSGYL PPLCDPKDGH LLMDGGYINN LPADIARSMG 1150 1160 1170 1180 1190 1200 AKTVIAIDVG SQDETDLSTY GDSLSGWWLL WKRLNPWADK VKVPDMAEIQ SRLAYVSCVR 1210 1220 1230 1240 1250 1260 QLEVVKSSSY CEYLRPPIDC FKTMDFGKFD QIYDVGYQYG KAVFGGWSRG NVIEKMLTDR 1270 1280 1290 1300 1310 1320 RSTDLNESRR ADVLAFPSSG FTDLAEIVSR IEPPTSYVSD GCADGEESDC LTEYEEDAGP 1330 1340 1350 1360 DCSRDEGGSP EGASPSTASE MEEEKSILRQ RRCLPQEPPG SATDA
	Isoform 4 [UniParc]. Checksum: 1C9F2797FB6D8612	FASTA	1,375	150,954
	10 20 30 40 50 60 MEAPLQTGMM GTSSHGLATN SSGAKVAERD GFQDVLAPGE GSAGRICGAQ PVPFVPQVLG 70 80 90 100 110 120 VMIGAGVAVV VTAVLILLVV RRLRVPKTPA PDGPRYRFRK RDKVLFYGRK IMRKVSQSTS 130 140 150 160 170 180 SLVDTSVSAT SRPRMRKKLK MLNIAKKILR IQKETPTLQR KEPPPAVLEA DLTEGDLANS 190 200 210 220 230 240 HLPSEVLYML KNVRVLGHFE KPLFLELCRH MVFQRLGQGD YVFRPGQPDA SIYVVQDGLL 250 260 270 280 290 300 ELCLPGPDGK ECVVKEVVPG DSVNSLLSIL DVITGHQHPQ RTVSARAARD STVLRLPVEA 310 320 330 340 350 360 FSAVFTKYPE SLVRVVQIIM VRLQRVTFLA LHNYLGLTNE LFSHEIQPLR LFPSPGLPTR 370 380 390 400 410 420 TSPVRGSKRM VSTSATDEPR ETPGRPPDPT GAPLPGPTGD PVKPTSLETP SAPLLSRCVS 430 440 450 460 470 480 MPGDISGLQG GPRSDFDMAY ERGRISVSLQ EEASGGSLAA PARTPTQEPR EQPAGACEYS 490 500 510 520 530 540 YCEDESATGG CPFGPYQGRQ TSSIFEAAKQ ELAKLMRIED PSLLNSRVLL HHAKAGTIIA 550 560 570 580 590 600 RQGDQDVSLH FVLWGCLHVY QRMIDKAEDV CLFVAQPGEL VGQLAVLTGE PLIFTLRAQR 610 620 630 640 650 660 DCTFLRISKS DFYEIMRAQP SVVLSAAHTV AARMSPFVRQ MDFAIDWTAV EAGRALYRQG 670 680 690 700 710 720 DRSDCTYIVL NGRLRSVIQR GSGKKELVGE YGRGDLIGVV EALTRQPRAT TVHAVRDTEL 730 740 750 760 770 780 AKLPEGTLGH IKRRYPQVVT RLIHLLSQKI LGNLQQLQGP FPAGSGLGVP PHSELTNPAS 790 800 810 820 830 840 NLATVAILPV CAEVPMVAFT LELQHALQAI GPTLLLNSDI IRARLGASAL DSIQEFRLSG 850 860 870 880 890 900 WLAQQEDAHR IVLYQTDASL TPWTVRCLRQ ADCILIVGLG DQEPTLGQLE QMLENTAVRA 910 920 930 940 950 960 LKQLVLLHRE EGAGPTRTVE WLNMRSWCSG HLHLRCPRRL FSRRSPAKLH ELYEKVFSRR 970 980 990 1000 1010 1020 ADRHSDFSRL ARVLTGNTIA LVLGGGGARG CSHIGVLKAL EEAGVPVDLV GGTSIGSFIG 1030 1040 1050 1060 1070 1080 ALYAEERSAS RTKQRAREWA KSMTSVLEPV LDLTYPVTSM FTGSAFNRSI HRVFQDKQIE 1090 1100 1110 1120 1130 1140 DLWLPYFNVT TDITASAMRV HKDGSLWRYV RASMTLSGYL PPLCDPKDGH LLMDGGYINN 1150 1160 1170 1180 1190 1200 LPADIARSMG AKTVIAIDVG SQDETDLSTY GDSLSGWWLL WKRLNPWADK VKVPDMAEIQ 1210 1220 1230 1240 1250 1260 SRLAYVSCVR QLEVVKSSSY CEYLRPPIDC FKTMDFGKFD QIYDVGYQYG KAVFGGWSRG 1270 1280 1290 1300 1310 1320 NVIEKMLTDR RSTDLNESRR ADVLAFPSSG FTDLAEIVSR IEPPTSYVSD GCADGEESDC 1330 1340 1350 1360 1370 LTEYEEDAGP DCSRDEGGSP EGASPSTASE MEEEKSILRQ RRCLPQEPPG SATDA

References

	« Hide 'large scale' referencesShow 'large scale' references »
[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] (ISOFORM 4), 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]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases 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]	"The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract] 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, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[10]	"A quantitative atlas of mitotic phosphorylation." Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-345; THR-352 AND SER-353, MASS SPECTROMETRY. 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, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[12]	"Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[13]	"Neuropathy target esterase gene mutations cause motor neuron disease." Rainier S., Bui M., Mark E., Thomas D., Tokarz D., Ming L., Delaney C., Richardson R.J., Albers J.W., Matsunami N., Stevens J., Coon H., Leppert M., Fink J.K. Am. J. Hum. Genet. 82:780-785(2008) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS SPG39 HIS-929 AND VAL-1051.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AJ004832 mRNA. Translation: CAA06164.1. AK294021 mRNA. Translation: BAG57380.1. 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.
IPI	IPI00217600. IPI00640818. IPI00940388.
RefSeq	NP_001159583.1. NM_001166111.1. NP_001159584.1. NM_001166112.1. NP_001159585.1. NM_001166113.1. NP_001159586.1. NM_001166114.1. NP_006693.3. NM_006702.4.
UniGene	Hs.631863.
3D structure databases
ProteinModelPortal	Q8IY17.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000221249.
PTM databases
PhosphoSite	Q8IY17.
Polymorphism databases
DMDM	150403921.
Proteomic databases
PaxDb	Q8IY17.
PRIDE	Q8IY17.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000221249; ENSP00000221249; ENSG00000032444. ENST00000414982; ENSP00000407509; ENSG00000032444. ENST00000450331; ENSP00000394348; ENSG00000032444. ENST00000600737; ENSP00000473211; ENSG00000032444.
GeneID	10908.
KEGG	hsa:10908.
UCSC	uc002mgq.2. human. uc002mgs.3. human. uc010xjq.2. human.
Organism-specific databases
CTD	10908.
GeneCards	GC19P007506.
HGNC	HGNC:16268. PNPLA6.
HPA	HPA007522.
MIM	603197. gene. 612020. phenotype.
neXtProt	NX_Q8IY17.
Orphanet	139480. Autosomal recessive spastic paraplegia type 39.
PharmGKB	PA145148268.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG0664.
HOVERGEN	HBG053067.
InParanoid	Q8IY17.
KO	K14676.
Gene expression databases
ArrayExpress	Q8IY17.
Bgee	Q8IY17.
CleanEx	HS_PNPLA6.
Genevestigator	Q8IY17.
Family and domain databases
Gene3D	2.60.120.10. 3 hits.
InterPro	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]
Pfam	PF00027. cNMP_binding. 3 hits. PF01734. Patatin. 1 hit. [Graphical view]
SMART	SM00100. cNMP. 3 hits. [Graphical view]
SUPFAM	SSF52151. Acyl_Trfase/lysoPlipase. 1 hit. SSF51206. cNMP_binding. 3 hits.
PROSITE	PS00888. CNMP_BINDING_1. False negative. PS00889. CNMP_BINDING_2. False negative. PS50042. CNMP_BINDING_3. 3 hits. PS01237. UPF0028. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	10908.
NextBio	35535401.
SOURCE	Search...

Entry information

Entry name

PLPL6_HUMAN

Accession

Primary (citable) accession number: Q8IY17
Secondary accession number(s): A6NGQ0 , B4DFB9, J3KQS3, O60859, Q86W58, Q9UG58

Entry history

Integrated into UniProtKB/Swiss-Prot:	June 26, 2007
Last sequence update:	June 26, 2007
Last modified:	May 29, 2013
This is version 79 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.