Q8N8W4 (PLPL1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Patatin-like phospholipase domain-containing protein 1
EC=3.1.1.-

Gene names

Name:

PNPLA1

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

General annotation (Comments)

Function	Lipid hydrolase By similarity.
Tissue specificity	Expressed in the digestive system. Ref.1
Sequence similarities	Contains 1 patatin domain.
Sequence caution	The sequence CAI21612.2 differs from that shown. Reason: Erroneous gene model prediction.

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	hydrolase activity Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q8N8W4-1)

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: Q8N8W4-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-95: Missing.

Note: Inactive.

Isoform 3 (identifier: Q8N8W4-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-95: Missing.
     168-168: V → VWAFLTLPPQ

Note: Inactive. No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 532	532	Patatin-like phospholipase domain-containing protein 1		PRO_0000292019
Regions
	Domain	16 – 185	170	Patatin
	Motif	51 – 55	5	GXSXG
	Compositional bias	326 – 451	126	Pro-rich
Sites
	Active site	53	1	By similarity
Natural variations
	Alternative sequence	1 – 95	95	Missing in isoform 2 and isoform 3.		VSP_026371
	Alternative sequence	168	1	V → VWAFLTLPPQ in isoform 3.		VSP_026372
	Natural variant	423	1	P → H. Ref.2 Ref.4 Corresponds to variant rs12199580 [ dbSNP | Ensembl ].		VAR_032929
	Natural variant	490	1	T → M. Ref.4 Corresponds to variant rs12197079 [ dbSNP | Ensembl ].		VAR_032930
	Natural variant	522	1	S → P. Ref.4 Corresponds to variant rs4713956 [ dbSNP | Ensembl ].		VAR_032931
Experimental info
	Sequence conflict	147	1	A → AA in CAJ58679. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified May 18, 2010. Version 3. Checksum: 175852A0FFABE035	FASTA	532	57,875
	10 20 30 40 50 60 MEEQVFKGDP DTPHSISFSG SGFLSFYQAG AVDALRDLAP RMLETAHRFA GTSAGAVIAA 70 80 90 100 110 120 LAICGIEMDE YLRVLNVGVA EVKKSFLGPL SPSCKMVQMM RQFLYRVLPE DSYKVTTGKL 130 140 150 160 170 180 HVSLTRLTDG ENVVVSEFTS KEELIEALYC SCFVPVYCGL IPPTYRGVRY IDGGFTGMQP 190 200 210 220 230 240 CAFWTDAITI STFSGQQDIC PRDCPAIFHD FRMFNCSFQF SLENIARMTH ALFPPDLVIL 250 260 270 280 290 300 HDYYYRGYED AVLYLRRLNA VYLNSSSKRV IFPRVEVYCQ IELALGNECP ERSQPSLRAR 310 320 330 340 350 360 QASLEGATQP HKEWVPKGDG RGSHGPPVSQ PVQTLEFTCE SPVSAPVSPL EQPPAQPLAS 370 380 390 400 410 420 STPLSLSGMP PVSFPAVHKP PSSTPGSSLP TPPPGLSPLS PQQQVQPSGS PARSLHSQAP 430 440 450 460 470 480 TSPRPSLGPS TVGAPQTLPR SSLSAFPAQP PVEELGQEQP QAVALLVSSK PKSAVPLVHV 490 500 510 520 530 KETVSKPYVT ESPAEDSNWV NKVFKKNKQK TSGTRKGFPR HSGSKKPSSK VQ
	Isoform 2 [UniParc]. Checksum: 47DE95860E41E305	FASTA	437	47,830
	10 20 30 40 50 60 MVQMMRQFLY RVLPEDSYKV TTGKLHVSLT RLTDGENVVV SEFTSKEELI EALYCSCFVP 70 80 90 100 110 120 VYCGLIPPTY RGVRYIDGGF TGMQPCAFWT DAITISTFSG QQDICPRDCP AIFHDFRMFN 130 140 150 160 170 180 CSFQFSLENI ARMTHALFPP DLVILHDYYY RGYEDAVLYL RRLNAVYLNS SSKRVIFPRV 190 200 210 220 230 240 EVYCQIELAL GNECPERSQP SLRARQASLE GATQPHKEWV PKGDGRGSHG PPVSQPVQTL 250 260 270 280 290 300 EFTCESPVSA PVSPLEQPPA QPLASSTPLS LSGMPPVSFP AVHKPPSSTP GSSLPTPPPG 310 320 330 340 350 360 LSPLSPQQQV QPSGSPARSL HSQAPTSPRP SLGPSTVGAP QTLPRSSLSA FPAQPPVEEL 370 380 390 400 410 420 GQEQPQAVAL LVSSKPKSAV PLVHVKETVS KPYVTESPAE DSNWVNKVFK KNKQKTSGTR 430 KGFPRHSGSK KPSSKVQ
	Isoform 3 [UniParc]. Checksum: 6543ABDB0D7D0853	FASTA	446	48,884
	10 20 30 40 50 60 MVQMMRQFLY RVLPEDSYKV TTGKLHVSLT RLTDGENVVV SEFTSKEELI EALYCSCFVP 70 80 90 100 110 120 VYCGLIPPTY RGVWAFLTLP PQRYIDGGFT GMQPCAFWTD AITISTFSGQ QDICPRDCPA 130 140 150 160 170 180 IFHDFRMFNC SFQFSLENIA RMTHALFPPD LVILHDYYYR GYEDAVLYLR RLNAVYLNSS 190 200 210 220 230 240 SKRVIFPRVE VYCQIELALG NECPERSQPS LRARQASLEG ATQPHKEWVP KGDGRGSHGP 250 260 270 280 290 300 PVSQPVQTLE FTCESPVSAP VSPLEQPPAQ PLASSTPLSL SGMPPVSFPA VHKPPSSTPG 310 320 330 340 350 360 SSLPTPPPGL SPLSPQQQVQ PSGSPARSLH SQAPTSPRPS LGPSTVGAPQ TLPRSSLSAF 370 380 390 400 410 420 PAQPPVEELG QEQPQAVALL VSSKPKSAVP LVHVKETVSK PYVTESPAED SNWVNKVFKK 430 440 NKQKTSGTRK GFPRHSGSKK PSSKVQ

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Characterization of the human patatin-like phospholipase family." Wilson P.A., Gardner S.D., Lambie N.M., Commans S.A., Crowther D.J. J. Lipid Res. 47:1940-1949(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY.
[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 2), VARIANT HIS-423. Tissue: Kidney.
[3]	"The DNA sequence and analysis of human chromosome 6." Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D. , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S. Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]	"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] (ISOFORMS 2 AND 3), VARIANTS HIS-423; MET-490 AND PRO-522.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AM182887 mRNA. Translation: CAJ58679.1. AK096074 mRNA. Translation: BAC04697.1. Z84484 Genomic DNA. Translation: CAI21612.2. Sequence problems. Z84484 Genomic DNA. Translation: CAI21613.1. Z84484 Genomic DNA. Translation: CAM45844.1. BC103905 mRNA. Translation: AAI03906.1. BC103906 mRNA. Translation: AAI03907.1. BC103907 mRNA. Translation: AAI03908.1.
IPI	IPI00167613. IPI00792936. IPI00848006.
RefSeq	NP_001139188.1. NM_001145716.2. NP_001139189.2. NM_001145717.1. NP_775947.2. NM_173676.2.
UniGene	Hs.407002.
3D structure databases
ProteinModelPortal	Q8N8W4.
SMR	Q8N8W4. Positions 224-291.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000321116.
PTM databases
PhosphoSite	Q8N8W4.
Polymorphism databases
DMDM	296452995.
Proteomic databases
PaxDb	Q8N8W4.
PRIDE	Q8N8W4.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000312917; ENSP00000321116; ENSG00000180316. ENST00000388715; ENSP00000373367; ENSG00000180316. ENST00000394571; ENSP00000378072; ENSG00000180316. ENST00000457797; ENSP00000391868; ENSG00000180316.
GeneID	285848.
KEGG	hsa:285848.
UCSC	uc003olw.1. human. uc010jwe.1. human.
Organism-specific databases
CTD	285848.
GeneCards	GC06P036257.
H-InvDB	HIX0005818.
HGNC	HGNC:21246. PNPLA1.
HPA	HPA037853.
MIM	612121. gene.
neXtProt	NX_Q8N8W4.
PharmGKB	PA134887192.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG287365.
HOGENOM	HOG000285962.
HOVERGEN	HBG108272.
InParanoid	Q8N8W4.
KO	K16813.
Gene expression databases
ArrayExpress	Q8N8W4.
Bgee	Q8N8W4.
CleanEx	HS_PNPLA1.
Genevestigator	Q8N8W4.
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
ChiTaRS	PNPLA1. human.
GenomeRNAi	285848.
NextBio	35534725.
SOURCE	Search...

Entry information

Entry name

PLPL1_HUMAN

Accession

Primary (citable) accession number: Q8N8W4
Secondary accession number(s): A3RMU3 , J3JS20, Q2A6N1, Q3SY95, Q3SY96, Q5R3L2

Entry history

Integrated into UniProtKB/Swiss-Prot:	June 26, 2007
Last sequence update:	May 18, 2010
Last modified:	May 1, 2013
This is version 81 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.