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Protein

Patatin-like phospholipase domain-containing protein 5

Gene

PNPLA5

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at transcript leveli

Functioni

Lipid hydrolase.By similarity

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Active sitei49NucleophilePROSITE-ProRule annotation1
Active sitei168Proton acceptorPROSITE-ProRule annotation1

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionHydrolase
Biological processLipid degradation, Lipid metabolism

Enzyme and pathway databases

ReactomeiR-HSA-163560. Triglyceride catabolism.

Chemistry databases

SwissLipidsiSLP:000001275.

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
Proteomesi
  • UP000005640 Componenti: Chromosome 22

Organism-specific databases

EuPathDBiHostDB:ENSG00000100341.11.
HGNCiHGNC:24888. PNPLA5.

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Pathology & Biotechi

Organism-specific databases

DisGeNETi150379.
OpenTargetsiENSG00000100341.
PharmGKBiPA134869344.

Polymorphism and mutation databases

BioMutaiPNPLA5.
DMDMi74762442.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002920211 – 429Patatin-like phospholipase domain-containing protein 5Add BLAST429

Proteomic databases

MaxQBiQ7Z6Z6.
PaxDbiQ7Z6Z6.
PeptideAtlasiQ7Z6Z6.
PRIDEiQ7Z6Z6.

PTM databases

PhosphoSitePlusiQ7Z6Z6.

Expressioni

Tissue specificityi

Expressed in brain and pituitary gland.1 Publication

Developmental stagei

No differential expression during adipocyte differentiation.1 Publication

Gene expression databases

BgeeiENSG00000100341.
CleanExiHS_PNPLA5.
ExpressionAtlasiQ7Z6Z6. baseline and differential.
GenevisibleiQ7Z6Z6. HS.

Organism-specific databases

HPAiHPA050409.
HPA054211.

Interactioni

Protein-protein interaction databases

BioGridi127291. 10 interactors.
IntActiQ7Z6Z6. 1 interactor.
STRINGi9606.ENSP00000216177.

Structurei

3D structure databases

ProteinModelPortaliQ7Z6Z6.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini12 – 181PNPLAPROSITE-ProRule annotationAdd BLAST170

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi16 – 21GXGXXGPROSITE-ProRule annotation6
Motifi47 – 51GXSXGPROSITE-ProRule annotation5
Motifi168 – 170DGA/GPROSITE-ProRule annotation3

Phylogenomic databases

eggNOGiKOG3773. Eukaryota.
ENOG410XSQS. LUCA.
GeneTreeiENSGT00390000005295.
HOGENOMiHOG000007467.
HOVERGENiHBG007046.
InParanoidiQ7Z6Z6.
KOiK16814.
OMAiCPSTITV.
OrthoDBiEOG091G05MG.
PhylomeDBiQ7Z6Z6.
TreeFamiTF314272.

Family and domain databases

InterProiView protein in InterPro
IPR016035. Acyl_Trfase/lysoPLipase.
IPR033562. PLPL.
IPR002641. PNPLA_dom.
PANTHERiPTHR12406. PTHR12406. 1 hit.
PfamiView protein in Pfam
PF01734. Patatin. 1 hit.
SUPFAMiSSF52151. SSF52151. 1 hit.
PROSITEiView protein in PROSITE
PS51635. PNPLA. 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)DescriptionActionsGraphical viewLength
Sequence conflicti319K → E in BAC86866 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_032932140L → F. Corresponds to variant dbSNP:rs2071883Ensembl.1
Natural variantiVAR_032933200T → I. Corresponds to variant dbSNP:rs10428037Ensembl.1
Natural variantiVAR_032934286W → R1 PublicationCorresponds to variant dbSNP:rs739231Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_02637366 – 179Missing in isoform 2. 1 PublicationAdd BLAST114

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.4. human. [Q7Z6Z6-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiPLPL5_HUMAN
AccessioniPrimary (citable) accession number: Q7Z6Z6
Secondary accession number(s): B1AHL8, B3KPR1, Q6ZST0
Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 26, 2007
Last sequence update: October 1, 2003
Last modified: September 27, 2017
This is version 105 of the entry and version 1 of the sequence. See 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