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Protein

Patatin-like phospholipase domain-containing protein 4

Gene

PNPLA4

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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.

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.

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: November 22, 2017
This is version 136 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