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Protein

Patatin-like phospholipase domain-containing protein 5

Gene

PNPLA5

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-Experimental evidence at transcript leveli

Functioni

Lipid hydrolase.By similarity

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Active sitei49 – 491By similarity

GO - Molecular functioni

  1. hydrolase activity Source: UniProtKB-KW

GO - Biological processi

  1. lipid catabolic process Source: UniProtKB-KW
Complete GO annotation...

Keywords - Molecular functioni

Hydrolase

Keywords - Biological processi

Lipid degradation, Lipid metabolism

Names & Taxonomyi

Protein namesi
Recommended name:
Patatin-like phospholipase domain-containing protein 5 (EC:3.1.1.-)
Alternative name(s):
GS2-like protein
Gene namesi
Name:PNPLA5
Synonyms:GS2L
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640 Componenti: Chromosome 22

Organism-specific databases

HGNCiHGNC:24888. PNPLA5.

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134869344.

Polymorphism and mutation databases

BioMutaiPNPLA5.
DMDMi74762442.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 429429Patatin-like phospholipase domain-containing protein 5PRO_0000292021Add
BLAST

Proteomic databases

PaxDbiQ7Z6Z6.
PRIDEiQ7Z6Z6.

Expressioni

Tissue specificityi

Expressed in brain and pituitary gland.1 Publication

Developmental stagei

No differential expression during adipocyte differentiation.1 Publication

Gene expression databases

BgeeiQ7Z6Z6.
CleanExiHS_PNPLA5.
ExpressionAtlasiQ7Z6Z6. baseline and differential.
GenevestigatoriQ7Z6Z6.

Organism-specific databases

HPAiHPA050409.
HPA054211.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000216177.

Structurei

3D structure databases

ProteinModelPortaliQ7Z6Z6.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini12 – 181170PatatinAdd
BLAST

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi47 – 515GXSXG

Sequence similaritiesi

Contains 1 patatin domain.Curated

Phylogenomic databases

eggNOGiNOG261571.
GeneTreeiENSGT00390000005295.
HOGENOMiHOG000007467.
HOVERGENiHBG007046.
InParanoidiQ7Z6Z6.
KOiK16814.
OMAiCPSTITV.
OrthoDBiEOG7J9VQR.
PhylomeDBiQ7Z6Z6.
TreeFamiTF314272.

Family and domain databases

InterProiIPR016035. Acyl_Trfase/lysoPLipase.
IPR002641. Patatin/PLipase_A2-rel.
[Graphical view]
PfamiPF01734. Patatin. 1 hit.
[Graphical view]
SUPFAMiSSF52151. SSF52151. 1 hit.

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q7Z6Z6-1) [UniParc]FASTAAdd to basket

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.

« Hide

        10         20         30         40         50
MGFLEEEGRW NLSFSGAGYL GAHHVGATEC LRQRAPRLLQ GARRIYGSSS
60 70 80 90 100
GALNAVSIVC GKSVDFCCSH LLGMVGQLER LSLSILHPAY APIEHVKQQL
110 120 130 140 150
QDALPPDAHV LASQRLGISL TRWPDGRNFL VTDFATCDEL IQALVCTLYF
160 170 180 190 200
PFYCGLIPPE FRGERYIDGA LSNNLPFADC PSTITVSPFH GTVDICPQST
210 220 230 240 250
SPNLHELNVF NFSFQISTEN FFLGLICLIP PSLEVVADNC RQGYLDALRF
260 270 280 290 300
LERRGLTKEP VLWTLVSKEP PAPADGNWDA GCDQRWKGGL SLNWKVPHVQ
310 320 330 340 350
VKDVPNFEQL SPELEAALKK ACTRDPSRWA RFWHSGPGQV LTYLLLPCTL
360 370 380 390 400
PFEYIYFRSR RLVVWLPDVP ADLWWMQGLL RNMALEVFSR TKAQLLGPIS
410 420
PPATRVLETS PLQPQIAPHR EELGPTHQA
Length:429
Mass (Da):47,912
Last modified:October 1, 2003 - v1
Checksum:i6278FA8C7968BBC3
GO
Isoform 2 (identifier: Q7Z6Z6-2) [UniParc]FASTAAdd to basket

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

Show »
Length:315
Mass (Da):35,168
Checksum:i76376B449E5178DF
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti319 – 3191K → E in BAC86866 (PubMed:14702039).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti140 – 1401L → F.
Corresponds to variant rs2071883 [ dbSNP | Ensembl ].
VAR_032932
Natural varianti200 – 2001T → I.
Corresponds to variant rs10428037 [ dbSNP | Ensembl ].
VAR_032933
Natural varianti286 – 2861W → R.1 Publication
Corresponds to variant rs739231 [ dbSNP | Ensembl ].
VAR_032934

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei66 – 179114Missing in isoform 2. 1 PublicationVSP_026373Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS14053.1. [Q7Z6Z6-1]
CCDS54537.1. [Q7Z6Z6-2]
RefSeqiNP_001171146.1. NM_001177675.1. [Q7Z6Z6-2]
NP_620169.1. NM_138814.3. [Q7Z6Z6-1]
UniGeneiHs.248086.

Genome annotation databases

EnsembliENST00000216177; ENSP00000216177; ENSG00000100341. [Q7Z6Z6-1]
ENST00000381198; ENSP00000370595; ENSG00000100341. [Q7Z6Z6-2]
ENST00000593866; ENSP00000471795; ENSG00000100341. [Q7Z6Z6-2]
ENST00000597664; ENSP00000471069; ENSG00000100341. [Q7Z6Z6-1]
GeneIDi150379.
KEGGihsa:150379.
UCSCiuc003beg.3. human. [Q7Z6Z6-1]
uc003beh.3. human. [Q7Z6Z6-2]

Polymorphism and mutation databases

BioMutaiPNPLA5.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS14053.1. [Q7Z6Z6-1]
CCDS54537.1. [Q7Z6Z6-2]
RefSeqiNP_001171146.1. NM_001177675.1. [Q7Z6Z6-2]
NP_620169.1. NM_138814.3. [Q7Z6Z6-1]
UniGeneiHs.248086.

3D structure databases

ProteinModelPortaliQ7Z6Z6.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000216177.

Polymorphism and mutation databases

BioMutaiPNPLA5.
DMDMi74762442.

Proteomic databases

PaxDbiQ7Z6Z6.
PRIDEiQ7Z6Z6.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000216177; ENSP00000216177; ENSG00000100341. [Q7Z6Z6-1]
ENST00000381198; ENSP00000370595; ENSG00000100341. [Q7Z6Z6-2]
ENST00000593866; ENSP00000471795; ENSG00000100341. [Q7Z6Z6-2]
ENST00000597664; ENSP00000471069; ENSG00000100341. [Q7Z6Z6-1]
GeneIDi150379.
KEGGihsa:150379.
UCSCiuc003beg.3. human. [Q7Z6Z6-1]
uc003beh.3. human. [Q7Z6Z6-2]

Organism-specific databases

CTDi150379.
GeneCardsiGC22M044275.
HGNCiHGNC:24888. PNPLA5.
HPAiHPA050409.
HPA054211.
MIMi611589. gene.
neXtProtiNX_Q7Z6Z6.
PharmGKBiPA134869344.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG261571.
GeneTreeiENSGT00390000005295.
HOGENOMiHOG000007467.
HOVERGENiHBG007046.
InParanoidiQ7Z6Z6.
KOiK16814.
OMAiCPSTITV.
OrthoDBiEOG7J9VQR.
PhylomeDBiQ7Z6Z6.
TreeFamiTF314272.

Miscellaneous databases

GenomeRNAii150379.
NextBioi86433.
PROiQ7Z6Z6.
SOURCEiSearch...

Gene expression databases

BgeeiQ7Z6Z6.
CleanExiHS_PNPLA5.
ExpressionAtlasiQ7Z6Z6. baseline and differential.
GenevestigatoriQ7Z6Z6.

Family and domain databases

InterProiIPR016035. Acyl_Trfase/lysoPLipase.
IPR002641. Patatin/PLipase_A2-rel.
[Graphical view]
PfamiPF01734. Patatin. 1 hit.
[Graphical view]
SUPFAMiSSF52151. SSF52151. 1 hit.
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  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.
    , 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.
    , 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. 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.

Entry informationi

Entry nameiPLPL5_HUMAN
AccessioniPrimary (citable) accession number: Q7Z6Z6
Secondary accession number(s): B1AHL8, B3KPR1, Q6ZST0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: June 26, 2007
Last sequence update: October 1, 2003
Last modified: April 29, 2015
This is version 84 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 22
    Human chromosome 22: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.