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Protein

Patatin-like phospholipase domain-containing protein 4

Gene

PNPLA4

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

Functioni

Lipid hydrolase.

Catalytic activityi

Triacylglycerol + H2O = diacylglycerol + a carboxylate.1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Active sitei43NucleophilePROSITE-ProRule annotation1
Active sitei163Proton 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:000000312

Names & Taxonomyi

Protein namesi
Recommended name:
Patatin-like phospholipase domain-containing protein 4 (EC:3.1.1.3)
Alternative name(s):
Protein GS2
Gene namesi
Name:PNPLA4
Synonyms:DXS1283E, GS2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome X

Organism-specific databases

EuPathDBiHostDB:ENSG00000006757.11
HGNCiHGNC:24887 PNPLA4
MIMi300102 gene
neXtProtiNX_P41247

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

Keywords - Cellular componenti

Mitochondrion

Pathology & Biotechi

Involvement in diseasei

Defects in PNPLA4 may play a role in mitochondrial disorders characterized by complex IV deficiency.1 Publication

Keywords - Diseasei

Primary mitochondrial disease

Organism-specific databases

DisGeNETi8228
OpenTargetsiENSG00000006757
PharmGKBiPA134910531

Polymorphism and mutation databases

BioMutaiPNPLA4
DMDMi116242718

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000584601 – 253Patatin-like phospholipase domain-containing protein 4Add BLAST253

Proteomic databases

EPDiP41247
MaxQBiP41247
PaxDbiP41247
PeptideAtlasiP41247
PRIDEiP41247
ProteomicsDBi55451
55452 [P41247-2]

PTM databases

iPTMnetiP41247
PhosphoSitePlusiP41247

Expressioni

Tissue specificityi

Expressed in all tissues examined, including heart, brain, placenta, lung, liver, muscle, kidney, pancreas and spleen.1 Publication

Gene expression databases

BgeeiENSG00000006757
CleanExiHS_PNPLA4
ExpressionAtlasiP41247 baseline and differential
GenevisibleiP41247 HS

Organism-specific databases

HPAiHPA003656

Interactioni

Protein-protein interaction databases

BioGridi113861, 5 interactors
STRINGi9606.ENSP00000370430

Structurei

3D structure databases

ProteinModelPortaliP41247
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini6 – 176PNPLAPROSITE-ProRule annotationAdd BLAST171

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi41 – 45GXSXGPROSITE-ProRule annotation5
Motifi163 – 165DGA/GPROSITE-ProRule annotation3

Phylogenomic databases

eggNOGiKOG3773 Eukaryota
ENOG410XSQS LUCA
GeneTreeiENSGT00390000005295
HOGENOMiHOG000007467
HOVERGENiHBG053620
InParanoidiP41247
KOiK11157
OMAiEYKGQKW
OrthoDBiEOG091G05MG
PhylomeDBiP41247
TreeFamiTF314272

Family and domain databases

CDDicd07222 Pat_PNPLA4, 1 hit
InterProiView protein in InterPro
IPR016035 Acyl_Trfase/lysoPLipase
IPR033562 PLPL
IPR033902 PNPLA4
IPR002641 PNPLA_dom
PANTHERiPTHR12406 PTHR12406, 1 hit
PTHR12406:SF39 PTHR12406:SF39, 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: P41247-1) [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
MKHINLSFAA CGFLGIYHLG AASALCRHGK KLVKDVKAFA GASAGSLVAS
60 70 80 90 100
VLLTAPEKIE ECNQFTYKFA EEIRRQSFGA VTPGYDFMAR LRSGMESILP
110 120 130 140 150
PSAHELAQNR LHVSITNAKT RENHLVSTFS SREDLIKVLL ASSFVPIYAG
160 170 180 190 200
LKLVEYKGQK WVDGGLTNAL PILPVGRTVT ISPFSGRLDI SPQDKGQLDL
210 220 230 240 250
YVNIAKQDIM LSLANLVRLN QALFPPSKRK MESLYQCGFD DTVKFLLKEN

WFE
Length:253
Mass (Da):27,980
Last modified:October 17, 2006 - v3
Checksum:i6FFA94F460BA03AC
GO
Isoform 2 (identifier: P41247-2) [UniParc]FASTAAdd to basket

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

Note: No experimental confirmation available.
Show »
Length:166
Mass (Da):18,629
Checksum:i10EC3F315041F786
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02806848V → G1 PublicationCorresponds to variant dbSNP:rs17856615Ensembl.1
Natural variantiVAR_053816113V → I. Corresponds to variant dbSNP:rs2231791Ensembl.1
Natural variantiVAR_028069134D → G1 PublicationCorresponds to variant dbSNP:rs17851825Ensembl.1
Natural variantiVAR_028070187R → Q. Corresponds to variant dbSNP:rs2231793Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0430891 – 87Missing in isoform 2. 1 PublicationAdd BLAST87

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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
CCDSiCCDS14129.1 [P41247-1]
CCDS55368.1 [P41247-2]
PIRiA55183
RefSeqiNP_001135861.1, NM_001142389.1 [P41247-1]
NP_001166143.1, NM_001172672.1 [P41247-2]
NP_004641.1, NM_004650.2 [P41247-1]
XP_011543890.1, XM_011545588.1 [P41247-1]
UniGeneiHs.264

Genome annotation databases

EnsembliENST00000381042; ENSP00000370430; ENSG00000006757 [P41247-1]
ENST00000444736; ENSP00000415245; ENSG00000006757 [P41247-1]
ENST00000537427; ENSP00000443157; ENSG00000006757 [P41247-2]
GeneIDi8228
KEGGihsa:8228
UCSCiuc011mhq.2 human [P41247-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiPLPL4_HUMAN
AccessioniPrimary (citable) accession number: P41247
Secondary accession number(s): A8K1H3, B4E362, Q8WW83
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 1, 1995
Last sequence update: October 17, 2006
Last modified: June 20, 2018
This is version 137 of the entry and version 3 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 X
    Human chromosome X: 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

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