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Q7Z6Z6 (PLPL5_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 80. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Patatin-like phospholipase domain-containing protein 5

EC=3.1.1.-
Alternative name(s):
GS2-like protein
Gene names
Name:PNPLA5
Synonyms:GS2L
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length429 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

Lipid hydrolase By similarity.

Tissue specificity

Expressed in brain and pituitary gland. Ref.5

Developmental stage

No differential expression during adipocyte differentiation. Ref.5

Sequence similarities

Contains 1 patatin domain.

Ontologies

Keywords
   Biological processLipid degradation
Lipid metabolism
   Coding sequence diversityAlternative splicing
Polymorphism
   Molecular functionHydrolase
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processlipid catabolic process

Inferred from electronic annotation. Source: UniProtKB-KW

   Molecular_functionhydrolase activity

Inferred from electronic annotation. Source: UniProtKB-KW

Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q7Z6Z6-1)

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: Q7Z6Z6-2)

The sequence of this isoform differs from the canonical sequence as follows:
     66-179: Missing.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 429429Patatin-like phospholipase domain-containing protein 5
PRO_0000292021

Regions

Domain12 – 181170Patatin
Motif47 – 515GXSXG

Sites

Active site491 By similarity

Natural variations

Alternative sequence66 – 179114Missing in isoform 2.
VSP_026373
Natural variant1401L → F.
Corresponds to variant rs2071883 [ dbSNP | Ensembl ].
VAR_032932
Natural variant2001T → I.
Corresponds to variant rs10428037 [ dbSNP | Ensembl ].
VAR_032933
Natural variant2861W → R. Ref.1
Corresponds to variant rs739231 [ dbSNP | Ensembl ].
VAR_032934

Experimental info

Sequence conflict3191K → E in BAC86866. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified October 1, 2003. Version 1.
Checksum: 6278FA8C7968BBC3

FASTA42947,912
        10         20         30         40         50         60 
MGFLEEEGRW NLSFSGAGYL GAHHVGATEC LRQRAPRLLQ GARRIYGSSS GALNAVSIVC 

        70         80         90        100        110        120 
GKSVDFCCSH LLGMVGQLER LSLSILHPAY APIEHVKQQL QDALPPDAHV LASQRLGISL 

       130        140        150        160        170        180 
TRWPDGRNFL VTDFATCDEL IQALVCTLYF PFYCGLIPPE FRGERYIDGA LSNNLPFADC 

       190        200        210        220        230        240 
PSTITVSPFH GTVDICPQST SPNLHELNVF NFSFQISTEN FFLGLICLIP PSLEVVADNC 

       250        260        270        280        290        300 
RQGYLDALRF LERRGLTKEP VLWTLVSKEP PAPADGNWDA GCDQRWKGGL SLNWKVPHVQ 

       310        320        330        340        350        360 
VKDVPNFEQL SPELEAALKK ACTRDPSRWA RFWHSGPGQV LTYLLLPCTL PFEYIYFRSR 

       370        380        390        400        410        420 
RLVVWLPDVP ADLWWMQGLL RNMALEVFSR TKAQLLGPIS PPATRVLETS PLQPQIAPHR 


EELGPTHQA 

« Hide

Isoform 2 [UniParc].

Checksum: 76376B449E5178DF
Show »

FASTA31535,168

References

« Hide 'large scale' references
[1]"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. expand/collapse author list , 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), VARIANT ARG-286.
Tissue: Brain and Caudate nucleus.
[2]"The DNA sequence of human chromosome 22."
Dunham I., Hunt A.R., Collins J.E., Bruskiewich R., Beare D.M., Clamp M., Smink L.J., Ainscough R., Almeida J.P., Babbage A.K., Bagguley C., Bailey J., Barlow K.F., Bates K.N., Beasley O.P., Bird C.P., Blakey S.E., Bridgeman A.M. expand/collapse author list , Buck D., Burgess J., Burrill W.D., Burton J., Carder C., Carter N.P., Chen Y., Clark G., Clegg S.M., Cobley V.E., Cole C.G., Collier R.E., Connor R., Conroy D., Corby N.R., Coville G.J., Cox A.V., Davis J., Dawson E., Dhami P.D., Dockree C., Dodsworth S.J., Durbin R.M., Ellington A.G., Evans K.L., Fey J.M., Fleming K., French L., Garner A.A., Gilbert J.G.R., Goward M.E., Grafham D.V., Griffiths M.N.D., Hall C., Hall R.E., Hall-Tamlyn G., Heathcott R.W., Ho S., Holmes S., Hunt S.E., Jones M.C., Kershaw J., Kimberley A.M., King A., Laird G.K., Langford C.F., Leversha M.A., Lloyd C., Lloyd D.M., Martyn I.D., Mashreghi-Mohammadi M., Matthews L.H., Mccann O.T., Mcclay J., Mclaren S., McMurray A.A., Milne S.A., Mortimore B.J., Odell C.N., Pavitt R., Pearce A.V., Pearson D., Phillimore B.J.C.T., Phillips S.H., Plumb R.W., Ramsay H., Ramsey Y., Rogers L., Ross M.T., Scott C.E., Sehra H.K., Skuce C.D., Smalley S., Smith M.L., Soderlund C., Spragon L., Steward C.A., Sulston J.E., Swann R.M., Vaudin M., Wall M., Wallis J.M., Whiteley M.N., Willey D.L., Williams L., Williams S.A., Williamson H., Wilmer T.E., Wilming L., Wright C.L., Hubbard T., Bentley D.R., Beck S., Rogers J., Shimizu N., Minoshima S., Kawasaki K., Sasaki T., Asakawa S., Kudoh J., Shintani A., Shibuya K., Yoshizaki Y., Aoki N., Mitsuyama S., Roe B.A., Chen F., Chu L., Crabtree J., Deschamps S., Do A., Do T., Dorman A., Fang F., Fu Y., Hu P., Hua A., Kenton S., Lai H., Lao H.I., Lewis J., Lewis S., Lin S.-P., Loh P., Malaj E., Nguyen T., Pan H., Phan S., Qi S., Qian Y., Ray L., Ren Q., Shaull S., Sloan D., Song L., Wang Q., Wang Y., Wang Z., White J., Willingham D., Wu H., Yao Z., Zhan M., Zhang G., Chissoe S., Murray J., Miller N., Minx P., Fulton R., Johnson D., Bemis G., Bentley D., Bradshaw H., Bourne S., Cordes M., Du Z., Fulton L., Goela D., Graves T., Hawkins J., Hinds K., Kemp K., Latreille P., Layman D., Ozersky P., Rohlfing T., Scheet P., Walker C., Wamsley A., Wohldmann P., Pepin K., Nelson J., Korf I., Bedell J.A., Hillier L.W., Mardis E., Waterston R., Wilson R., Emanuel B.S., Shaikh T., Kurahashi H., Saitta S., Budarf M.L., McDermid H.E., Johnson A., Wong A.C.C., Morrow B.E., Edelmann L., Kim U.J., Shizuya H., Simon M.I., Dumanski J.P., Peyrard M., Kedra D., Seroussi E., Fransson I., Tapia I., Bruder C.E., O'Brien K.P., Wilkinson P., Bodenteich A., Hartman K., Hu X., Khan A.S., Lane L., Tilahun Y., Wright H.
Nature 402:489-495(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]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. expand/collapse author list , 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].
[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] (ISOFORM 1).
Tissue: Brain and Skin.
[5]"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: TISSUE SPECIFICITY, DEVELOPMENTAL STAGE.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AK056648 mRNA. Translation: BAG51773.1.
AK127172 mRNA. Translation: BAC86866.1.
Z97055 Genomic DNA. Translation: CAB09789.1.
Z97055 Genomic DNA. Translation: CAQ09929.1.
CH471138 Genomic DNA. Translation: EAW73321.1.
BC031820 mRNA. Translation: AAH31820.1.
BC104839 mRNA. Translation: AAI04840.1.
BC104843 mRNA. Translation: AAI04844.1.
CCDSCCDS14053.1. [Q7Z6Z6-1]
CCDS54537.1. [Q7Z6Z6-2]
RefSeqNP_001171146.1. NM_001177675.1. [Q7Z6Z6-2]
NP_620169.1. NM_138814.3. [Q7Z6Z6-1]
UniGeneHs.248086.

3D structure databases

ProteinModelPortalQ7Z6Z6.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000216177.

Polymorphism databases

DMDM74762442.

Proteomic databases

PaxDbQ7Z6Z6.
PRIDEQ7Z6Z6.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000216177; ENSP00000216177; ENSG00000100341. [Q7Z6Z6-1]
ENST00000381198; ENSP00000370595; ENSG00000100341. [Q7Z6Z6-2]
ENST00000593866; ENSP00000471795; ENSG00000100341. [Q7Z6Z6-2]
ENST00000597664; ENSP00000471069; ENSG00000100341. [Q7Z6Z6-1]
GeneID150379.
KEGGhsa:150379.
UCSCuc003beg.3. human. [Q7Z6Z6-1]
uc003beh.3. human. [Q7Z6Z6-2]

Organism-specific databases

CTD150379.
GeneCardsGC22M044275.
HGNCHGNC:24888. PNPLA5.
HPAHPA050409.
HPA054211.
MIM611589. gene.
neXtProtNX_Q7Z6Z6.
PharmGKBPA134869344.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG261571.
HOGENOMHOG000007467.
HOVERGENHBG007046.
InParanoidQ7Z6Z6.
KOK16814.
OMACPSTITV.
OrthoDBEOG7J9VQR.
PhylomeDBQ7Z6Z6.
TreeFamTF314272.

Gene expression databases

ArrayExpressQ7Z6Z6.
BgeeQ7Z6Z6.
CleanExHS_PNPLA5.
GenevestigatorQ7Z6Z6.

Family and domain databases

InterProIPR016035. Acyl_Trfase/lysoPLipase.
IPR002641. Patatin/PLipase_A2-rel.
[Graphical view]
PfamPF01734. Patatin. 1 hit.
[Graphical view]
SUPFAMSSF52151. SSF52151. 1 hit.
ProtoNetSearch...

Other

GenomeRNAi150379.
NextBio86433.
PROQ7Z6Z6.
SOURCESearch...

Entry information

Entry namePLPL5_HUMAN
AccessionPrimary (citable) accession number: Q7Z6Z6
Secondary accession number(s): B1AHL8, B3KPR1, Q6ZST0
Entry history
Integrated into UniProtKB/Swiss-Prot: June 26, 2007
Last sequence update: October 1, 2003
Last modified: July 9, 2014
This is version 80 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 22

Human chromosome 22: entries, gene names and cross-references to MIM