PLPL5_HUMAN
ID PLPL5_HUMAN Reviewed; 429 AA.
AC Q7Z6Z6; B1AHL8; B3KPR1; Q6ZST0;
DT 26-JUN-2007, integrated into UniProtKB/Swiss-Prot.
DT 01-OCT-2003, sequence version 1.
DT 03-AUG-2022, entry version 129.
DE RecName: Full=Patatin-like phospholipase domain-containing protein 5 {ECO:0000305};
DE EC=3.1.1.3 {ECO:0000269|PubMed:16150821};
DE AltName: Full=GS2-like protein {ECO:0000303|PubMed:16150821};
GN Name=PNPLA5 {ECO:0000312|HGNC:HGNC:24888};
GN Synonyms=GS2L {ECO:0000303|PubMed:16150821};
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), AND VARIANT
RP ARG-286.
RC TISSUE=Brain, and Caudate nucleus;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=10591208; DOI=10.1038/990031;
RA Dunham I., Hunt A.R., Collins J.E., Bruskiewich R., Beare D.M., Clamp M.,
RA Smink L.J., Ainscough R., Almeida J.P., Babbage A.K., Bagguley C.,
RA Bailey J., Barlow K.F., Bates K.N., Beasley O.P., Bird C.P., Blakey S.E.,
RA Bridgeman A.M., Buck D., Burgess J., Burrill W.D., Burton J., Carder C.,
RA Carter N.P., Chen Y., Clark G., Clegg S.M., Cobley V.E., Cole C.G.,
RA Collier R.E., Connor R., Conroy D., Corby N.R., Coville G.J., Cox A.V.,
RA Davis J., Dawson E., Dhami P.D., Dockree C., Dodsworth S.J., Durbin R.M.,
RA Ellington A.G., Evans K.L., Fey J.M., Fleming K., French L., Garner A.A.,
RA Gilbert J.G.R., Goward M.E., Grafham D.V., Griffiths M.N.D., Hall C.,
RA Hall R.E., Hall-Tamlyn G., Heathcott R.W., Ho S., Holmes S., Hunt S.E.,
RA Jones M.C., Kershaw J., Kimberley A.M., King A., Laird G.K., Langford C.F.,
RA Leversha M.A., Lloyd C., Lloyd D.M., Martyn I.D., Mashreghi-Mohammadi M.,
RA Matthews L.H., Mccann O.T., Mcclay J., Mclaren S., McMurray A.A.,
RA Milne S.A., Mortimore B.J., Odell C.N., Pavitt R., Pearce A.V., Pearson D.,
RA Phillimore B.J.C.T., Phillips S.H., Plumb R.W., Ramsay H., Ramsey Y.,
RA Rogers L., Ross M.T., Scott C.E., Sehra H.K., Skuce C.D., Smalley S.,
RA Smith M.L., Soderlund C., Spragon L., Steward C.A., Sulston J.E.,
RA Swann R.M., Vaudin M., Wall M., Wallis J.M., Whiteley M.N., Willey D.L.,
RA Williams L., Williams S.A., Williamson H., Wilmer T.E., Wilming L.,
RA Wright C.L., Hubbard T., Bentley D.R., Beck S., Rogers J., Shimizu N.,
RA Minoshima S., Kawasaki K., Sasaki T., Asakawa S., Kudoh J., Shintani A.,
RA Shibuya K., Yoshizaki Y., Aoki N., Mitsuyama S., Roe B.A., Chen F., Chu L.,
RA Crabtree J., Deschamps S., Do A., Do T., Dorman A., Fang F., Fu Y., Hu P.,
RA Hua A., Kenton S., Lai H., Lao H.I., Lewis J., Lewis S., Lin S.-P., Loh P.,
RA Malaj E., Nguyen T., Pan H., Phan S., Qi S., Qian Y., Ray L., Ren Q.,
RA Shaull S., Sloan D., Song L., Wang Q., Wang Y., Wang Z., White J.,
RA Willingham D., Wu H., Yao Z., Zhan M., Zhang G., Chissoe S., Murray J.,
RA Miller N., Minx P., Fulton R., Johnson D., Bemis G., Bentley D.,
RA Bradshaw H., Bourne S., Cordes M., Du Z., Fulton L., Goela D., Graves T.,
RA Hawkins J., Hinds K., Kemp K., Latreille P., Layman D., Ozersky P.,
RA Rohlfing T., Scheet P., Walker C., Wamsley A., Wohldmann P., Pepin K.,
RA Nelson J., Korf I., Bedell J.A., Hillier L.W., Mardis E., Waterston R.,
RA Wilson R., Emanuel B.S., Shaikh T., Kurahashi H., Saitta S., Budarf M.L.,
RA McDermid H.E., Johnson A., Wong A.C.C., Morrow B.E., Edelmann L., Kim U.J.,
RA Shizuya H., Simon M.I., Dumanski J.P., Peyrard M., Kedra D., Seroussi E.,
RA Fransson I., Tapia I., Bruder C.E., O'Brien K.P., Wilkinson P.,
RA Bodenteich A., Hartman K., Hu X., Khan A.S., Lane L., Tilahun Y.,
RA Wright H.;
RT "The DNA sequence of human chromosome 22.";
RL Nature 402:489-495(1999).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Brain, and Skin;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [5]
RP CATALYTIC ACTIVITY, AND FUNCTION.
RX PubMed=16150821; DOI=10.1194/jlr.m500290-jlr200;
RA Lake A.C., Sun Y., Li J.-L., Kim J.E., Johnson J.W., Li D., Revett T.,
RA Shih H.H., Liu W., Paulsen J.E., Gimeno R.E.;
RT "Expression, regulation, and triglyceride hydrolase activity of Adiponutrin
RT family members.";
RL J. Lipid Res. 46:2477-2487(2005).
RN [6]
RP TISSUE SPECIFICITY, AND DEVELOPMENTAL STAGE.
RX PubMed=16799181; DOI=10.1194/jlr.m600185-jlr200;
RA Wilson P.A., Gardner S.D., Lambie N.M., Commans S.A., Crowther D.J.;
RT "Characterization of the human patatin-like phospholipase family.";
RL J. Lipid Res. 47:1940-1949(2006).
CC -!- FUNCTION: Has abundant triacylglycerol lipase activity.
CC {ECO:0000269|PubMed:16150821}.
CC -!- CATALYTIC ACTIVITY:
CC Reaction=a triacylglycerol + H2O = a diacylglycerol + a fatty acid +
CC H(+); Xref=Rhea:RHEA:12044, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378,
CC ChEBI:CHEBI:17855, ChEBI:CHEBI:18035, ChEBI:CHEBI:28868; EC=3.1.1.3;
CC Evidence={ECO:0000269|PubMed:16150821};
CC PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:12045;
CC Evidence={ECO:0000305|PubMed:16150821};
CC -!- INTERACTION:
CC Q7Z6Z6; Q92624: APPBP2; NbExp=3; IntAct=EBI-12241582, EBI-743771;
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q7Z6Z6-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q7Z6Z6-2; Sequence=VSP_026373;
CC -!- TISSUE SPECIFICITY: Expressed in brain and pituitary gland.
CC {ECO:0000269|PubMed:16799181}.
CC -!- DEVELOPMENTAL STAGE: No differential expression during adipocyte
CC differentiation. {ECO:0000269|PubMed:16799181}.
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DR EMBL; AK056648; BAG51773.1; -; mRNA.
DR EMBL; AK127172; BAC86866.1; -; mRNA.
DR EMBL; Z97055; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471138; EAW73321.1; -; Genomic_DNA.
DR EMBL; BC031820; AAH31820.1; -; mRNA.
DR EMBL; BC104839; AAI04840.1; -; mRNA.
DR EMBL; BC104843; AAI04844.1; -; mRNA.
DR CCDS; CCDS14053.1; -. [Q7Z6Z6-1]
DR CCDS; CCDS54537.1; -. [Q7Z6Z6-2]
DR RefSeq; NP_001171146.1; NM_001177675.1. [Q7Z6Z6-2]
DR RefSeq; NP_620169.1; NM_138814.3. [Q7Z6Z6-1]
DR AlphaFoldDB; Q7Z6Z6; -.
DR BioGRID; 127291; 38.
DR IntAct; Q7Z6Z6; 9.
DR STRING; 9606.ENSP00000216177; -.
DR SwissLipids; SLP:000001275; -.
DR PhosphoSitePlus; Q7Z6Z6; -.
DR BioMuta; PNPLA5; -.
DR DMDM; 74762442; -.
DR MaxQB; Q7Z6Z6; -.
DR PaxDb; Q7Z6Z6; -.
DR PeptideAtlas; Q7Z6Z6; -.
DR PRIDE; Q7Z6Z6; -.
DR ProteomicsDB; 69470; -. [Q7Z6Z6-1]
DR Antibodypedia; 27565; 91 antibodies from 17 providers.
DR DNASU; 150379; -.
DR Ensembl; ENST00000216177.9; ENSP00000216177.3; ENSG00000100341.13. [Q7Z6Z6-1]
DR Ensembl; ENST00000381198.7; ENSP00000370595.2; ENSG00000100341.13. [Q7Z6Z6-2]
DR GeneID; 150379; -.
DR KEGG; hsa:150379; -.
DR MANE-Select; ENST00000216177.9; ENSP00000216177.3; NM_138814.4; NP_620169.1.
DR UCSC; uc003beg.4; human. [Q7Z6Z6-1]
DR CTD; 150379; -.
DR DisGeNET; 150379; -.
DR GeneCards; PNPLA5; -.
DR HGNC; HGNC:24888; PNPLA5.
DR HPA; ENSG00000100341; Tissue enhanced (brain, epididymis, skin).
DR MIM; 611589; gene.
DR neXtProt; NX_Q7Z6Z6; -.
DR OpenTargets; ENSG00000100341; -.
DR PharmGKB; PA134869344; -.
DR VEuPathDB; HostDB:ENSG00000100341; -.
DR eggNOG; KOG3773; Eukaryota.
DR GeneTree; ENSGT00940000162116; -.
DR HOGENOM; CLU_018371_1_0_1; -.
DR InParanoid; Q7Z6Z6; -.
DR OMA; FYCGTIP; -.
DR OrthoDB; 1204225at2759; -.
DR PhylomeDB; Q7Z6Z6; -.
DR TreeFam; TF314272; -.
DR PathwayCommons; Q7Z6Z6; -.
DR Reactome; R-HSA-163560; Triglyceride catabolism.
DR SignaLink; Q7Z6Z6; -.
DR BioGRID-ORCS; 150379; 7 hits in 1066 CRISPR screens.
DR ChiTaRS; PNPLA5; human.
DR GenomeRNAi; 150379; -.
DR Pharos; Q7Z6Z6; Tdark.
DR PRO; PR:Q7Z6Z6; -.
DR Proteomes; UP000005640; Chromosome 22.
DR RNAct; Q7Z6Z6; protein.
DR Bgee; ENSG00000100341; Expressed in tibialis anterior and 35 other tissues.
DR ExpressionAtlas; Q7Z6Z6; baseline and differential.
DR Genevisible; Q7Z6Z6; HS.
DR GO; GO:0005737; C:cytoplasm; IBA:GO_Central.
DR GO; GO:0005829; C:cytosol; TAS:Reactome.
DR GO; GO:0005811; C:lipid droplet; IBA:GO_Central.
DR GO; GO:0016020; C:membrane; IBA:GO_Central.
DR GO; GO:0004806; F:triglyceride lipase activity; EXP:Reactome.
DR GO; GO:0055088; P:lipid homeostasis; IBA:GO_Central.
DR GO; GO:0019433; P:triglyceride catabolic process; IBA:GO_Central.
DR InterPro; IPR016035; Acyl_Trfase/lysoPLipase.
DR InterPro; IPR033562; PLPL.
DR InterPro; IPR002641; PNPLA_dom.
DR PANTHER; PTHR12406; PTHR12406; 1.
DR Pfam; PF01734; Patatin; 1.
DR SUPFAM; SSF52151; SSF52151; 1.
DR PROSITE; PS51635; PNPLA; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Hydrolase; Lipid degradation; Lipid metabolism;
KW Reference proteome.
FT CHAIN 1..429
FT /note="Patatin-like phospholipase domain-containing protein
FT 5"
FT /id="PRO_0000292021"
FT DOMAIN 12..181
FT /note="PNPLA"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01161"
FT MOTIF 16..21
FT /note="GXGXXG"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01161"
FT MOTIF 47..51
FT /note="GXSXG"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01161"
FT MOTIF 168..170
FT /note="DGA/G"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01161"
FT ACT_SITE 49
FT /note="Nucleophile"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01161"
FT ACT_SITE 168
FT /note="Proton acceptor"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01161"
FT VAR_SEQ 66..179
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_026373"
FT VARIANT 140
FT /note="L -> F (in dbSNP:rs2071883)"
FT /id="VAR_032932"
FT VARIANT 200
FT /note="T -> I (in dbSNP:rs10428037)"
FT /id="VAR_032933"
FT VARIANT 286
FT /note="W -> R (in dbSNP:rs739231)"
FT /evidence="ECO:0000269|PubMed:14702039"
FT /id="VAR_032934"
FT CONFLICT 319
FT /note="K -> E (in Ref. 1; BAC86866)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 429 AA; 47912 MW; 6278FA8C7968BBC3 CRC64;
MGFLEEEGRW NLSFSGAGYL GAHHVGATEC LRQRAPRLLQ GARRIYGSSS GALNAVSIVC
GKSVDFCCSH LLGMVGQLER LSLSILHPAY APIEHVKQQL QDALPPDAHV LASQRLGISL
TRWPDGRNFL VTDFATCDEL IQALVCTLYF PFYCGLIPPE FRGERYIDGA LSNNLPFADC
PSTITVSPFH GTVDICPQST SPNLHELNVF NFSFQISTEN FFLGLICLIP PSLEVVADNC
RQGYLDALRF LERRGLTKEP VLWTLVSKEP PAPADGNWDA GCDQRWKGGL SLNWKVPHVQ
VKDVPNFEQL SPELEAALKK ACTRDPSRWA RFWHSGPGQV LTYLLLPCTL PFEYIYFRSR
RLVVWLPDVP ADLWWMQGLL RNMALEVFSR TKAQLLGPIS PPATRVLETS PLQPQIAPHR
EELGPTHQA
