P41247 (PLPL4_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Patatin-like phospholipase domain-containing protein 4
EC=3.1.1.3

Alternative name(s):
Protein GS2

Gene names

Name:	PNPLA4
Synonyms:	DXS1283E, GS2

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	253 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Function	Lipid hydrolase.
Catalytic activity	Triacylglycerol + H2O = diacylglycerol + a carboxylate. Ref.6
Tissue specificity	Expressed in all tissues examined, including heart, brain, placenta, lung, liver, muscle, kidney, pancreas and spleen. Ref.1
Sequence similarities	Contains 1 patatin domain.

Ontologies

Keywords
Biological process	Lipid degradation Lipid metabolism
Coding sequence diversity	Alternative splicing Polymorphism
Molecular function	Hydrolase
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	lipid catabolic process Inferred from electronic annotation. Source: UniProtKB-KW
Molecular_function	retinyl-palmitate esterase activity Inferred from electronic annotation. Source: EC triglyceride lipase activity Inferred from electronic annotation. Source: EC
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: P41247-1)

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: P41247-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-87: Missing.

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 253	253	Patatin-like phospholipase domain-containing protein 4		PRO_0000058460
Regions
	Domain	6 – 176	171	Patatin
	Motif	41 – 45	5	GXSXG
Sites
	Active site	43	1	By similarity
Natural variations
	Alternative sequence	1 – 87	87	Missing in isoform 2.		VSP_043089
	Natural variant	48	1	V → G. Ref.5 Corresponds to variant rs17856615 [ dbSNP | Ensembl ].		VAR_028068
	Natural variant	113	1	V → I. Corresponds to variant rs2231791 [ dbSNP | Ensembl ].		VAR_053816
	Natural variant	134	1	D → G. Ref.5 Corresponds to variant rs17851825 [ dbSNP | Ensembl ].		VAR_028069
	Natural variant	187	1	R → Q. Corresponds to variant rs2231793 [ dbSNP | Ensembl ].		VAR_028070

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified October 17, 2006. Version 3. Checksum: 6FFA94F460BA03AC	FASTA	253	27,980
	10 20 30 40 50 60 MKHINLSFAA CGFLGIYHLG AASALCRHGK KLVKDVKAFA GASAGSLVAS VLLTAPEKIE 70 80 90 100 110 120 ECNQFTYKFA EEIRRQSFGA VTPGYDFMAR LRSGMESILP PSAHELAQNR LHVSITNAKT 130 140 150 160 170 180 RENHLVSTFS SREDLIKVLL ASSFVPIYAG LKLVEYKGQK WVDGGLTNAL PILPVGRTVT 190 200 210 220 230 240 ISPFSGRLDI SPQDKGQLDL YVNIAKQDIM LSLANLVRLN QALFPPSKRK MESLYQCGFD 250 DTVKFLLKEN WFE
	Isoform 2 [UniParc]. Checksum: 10EC3F315041F786	FASTA	166	18,629
	10 20 30 40 50 60 MARLRSGMES ILPPSAHELA QNRLHVSITN AKTRENHLVS TFSSREDLIK VLLASSFVPI 70 80 90 100 110 120 YAGLKLVEYK GQKWVDGGLT NALPILPVGR TVTISPFSGR LDISPQDKGQ LDLYVNIAKQ 130 140 150 160 DIMLSLANLV RLNQALFPPS KRKMESLYQC GFDDTVKFLL KENWFE

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Isolation of a new gene GS2 (DXS1283E) from a CpG island between STS and KAL1 on Xp22.3." Lee W.-C., Salido E., Yen P.H. Genomics 22:372-376(1994) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1), TISSUE SPECIFICITY. Tissue: 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 1 AND 2). Tissue: Corpus callosum and Uterus.
[3]	"The DNA sequence of the human X chromosome." Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C. , Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A., Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P., Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D., Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D., Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L., Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P., Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G., Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J., Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D., Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L., Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z., Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S., Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S., Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O., Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H., Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T., Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L., Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R., Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y., Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K., Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J., Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L., Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S., Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A., Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L., Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D., Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H., McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S., Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C., Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S., Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V., Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K., Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K., Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D., Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R., Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B., Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C., d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q., Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N., Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A., Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J., Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A., Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F., Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L., Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S., Rogers J., Bentley D.R. Nature 434:325-337(2005) [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 (JUL-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 1), VARIANTS GLY-48 AND GLY-134. Tissue: Lung.
[6]	"Identification, cloning, expression, and purification of three novel human calcium-independent phospholipase A2 family members possessing triacylglycerol lipase and acylglycerol transacylase activities." Jenkins C.M., Mancuso D.J., Yan W., Sims H.F., Gibson B., Gross R.W. J. Biol. Chem. 279:48968-48975(2004) [PubMed] [Europe PMC] [Abstract] Cited for: ENZYME ACTIVITY.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	U03886 mRNA. Translation: AAA16491.1. U08893 , U08888, U08889, U08890, U08891, U08892 Genomic DNA. Translation: AAA17838.1. AK289888 mRNA. Translation: BAF82577.1. AK304586 mRNA. Translation: BAG65374.1. AC005296 Genomic DNA. No translation available. CH471074 Genomic DNA. Translation: EAW98752.1. BC020746 mRNA. Translation: AAH20746.1.
IPI	IPI00013218. IPI00956229.
PIR	A55183.
RefSeq	NP_001135861.1. NM_001142389.1. NP_001166143.1. NM_001172672.1. NP_004641.1. NM_004650.2.
UniGene	Hs.264.
3D structure databases
ProteinModelPortal	P41247.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000370430.
PTM databases
PhosphoSite	P41247.
Polymorphism databases
DMDM	116242718.
Proteomic databases
PaxDb	P41247.
PRIDE	P41247.
Protocols and materials databases
DNASU	8228.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000381042; ENSP00000370430; ENSG00000006757. ENST00000444736; ENSP00000415245; ENSG00000006757. ENST00000537427; ENSP00000443157; ENSG00000006757.
GeneID	8228.
KEGG	hsa:8228.
UCSC	uc011mhq.1. human.
Organism-specific databases
CTD	8228.
GeneCards	GC0XM007826.
HGNC	HGNC:24887. PNPLA4.
HPA	HPA003656.
MIM	300102. gene.
neXtProt	NX_P41247.
PharmGKB	PA134910531.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG287078.
HOGENOM	HOG000007467.
HOVERGEN	HBG053620.
InParanoid	P41247.
KO	K11157.
OMA	EYKGQKW.
OrthoDB	EOG4B5P5Z.
PhylomeDB	P41247.
Gene expression databases
ArrayExpress	P41247.
Bgee	P41247.
CleanEx	HS_PNPLA4.
Genevestigator	P41247.
GermOnline	ENSG00000006757. Homo sapiens.
Family and domain databases
InterPro	IPR016035. Acyl_Trfase/lysoPLipase. IPR002641. Patatin/PLipase_A2-rel. [Graphical view]
Pfam	PF01734. Patatin. 1 hit. [Graphical view]
SUPFAM	SSF52151. Acyl_Trfase/lysoPlipase. 1 hit.
ProtoNet	Search...
Other
GenomeRNAi	8228.
NextBio	30974.
SOURCE	Search...

Entry information

Entry name

PLPL4_HUMAN

Accession

Primary (citable) accession number: P41247
Secondary accession number(s): A8K1H3, B4E362, Q8WW83

Entry history

Integrated into UniProtKB/Swiss-Prot:	February 1, 1995
Last sequence update:	October 17, 2006
Last modified:	April 3, 2013
This is version 101 of the entry and version 3 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.