Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Platelet-activating factor acetylhydrolase

Gene

PLA2G7

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

Functioni

Modulates the action of platelet-activating factor (PAF) by hydrolyzing the sn-2 ester bond to yield the biologically inactive lyso-PAF. Has a specificity for substrates with a short residue at the sn-2 position. It is inactive against long-chain phospholipids.

Catalytic activityi

1-alkyl-2-acetyl-sn-glycero-3-phosphocholine + H2O = 1-alkyl-sn-glycero-3-phosphocholine + acetate.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Active sitei273Nucleophile1 Publication1
Active sitei296Charge relay systemPROSITE-ProRule annotation1 Publication1
Active sitei351Charge relay systemPROSITE-ProRule annotation1 Publication1

GO - Molecular functioni

  • 1-alkyl-2-acetylglycerophosphocholine esterase activity Source: BHF-UCL
  • calcium-independent phospholipase A2 activity Source: BHF-UCL
  • hydrolase activity, acting on ester bonds Source: Reactome
  • phospholipid binding Source: BHF-UCL

GO - Biological processi

  • lipid catabolic process Source: UniProtKB-KW
  • lipid oxidation Source: BHF-UCL
  • low-density lipoprotein particle remodeling Source: BHF-UCL
  • plasma lipoprotein particle oxidation Source: BHF-UCL
  • platelet activating factor metabolic process Source: BHF-UCL
  • positive regulation of inflammatory response Source: BHF-UCL
  • positive regulation of monocyte chemotaxis Source: BHF-UCL
Complete GO annotation...

Keywords - Molecular functioni

Hydrolase

Keywords - Biological processi

Lipid degradation, Lipid metabolism

Enzyme and pathway databases

BioCyciZFISH:HS07320-MONOMER.
BRENDAi3.1.1.4. 2681.
3.1.1.47. 2681.
ReactomeiR-HSA-422085. Synthesis, secretion, and deacylation of Ghrelin.
SABIO-RKQ13093.

Protein family/group databases

ESTHERihuman-PLA2G7. PAF-Acetylhydrolase.

Chemistry databases

SwissLipidsiSLP:000000204.

Names & Taxonomyi

Protein namesi
Recommended name:
Platelet-activating factor acetylhydrolase (EC:3.1.1.47)
Short name:
PAF acetylhydrolase
Alternative name(s):
1-alkyl-2-acetylglycerophosphocholine esterase
2-acetyl-1-alkylglycerophosphocholine esterase
Group-VIIA phospholipase A2
Short name:
gVIIA-PLA2
LDL-associated phospholipase A2
Short name:
LDL-PLA(2)
PAF 2-acylhydrolase
Gene namesi
Name:PLA2G7
Synonyms:PAFAH
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 6

Organism-specific databases

HGNCiHGNC:9040. PLA2G7.

Subcellular locationi

GO - Cellular componenti

  • cytoplasm Source: Ensembl
  • extracellular region Source: Reactome
  • low-density lipoprotein particle Source: BHF-UCL
Complete GO annotation...

Keywords - Cellular componenti

Secreted

Pathology & Biotechi

Involvement in diseasei

Platelet-activating factor acetylhydrolase deficiency (PAFAD)5 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn enzymatic deficiency that results in exacerbated bodily response to inflammatory agents. It can be associated with several disease states including inflammatory gastrointestinal disorders, asthma and atopy. Asthmatic individuals with PAFAD may manifest aggravated respiratory symptoms.
See also OMIM:614278
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_004268279V → F in PAFAD; loss of function; risk factor for coronary arthery disease and stroke. 4 PublicationsCorresponds to variant rs76863441dbSNPEnsembl.1
Natural variantiVAR_011585281Q → R in PAFAD; loss of function. 1 PublicationCorresponds to variant rs201256712dbSNPEnsembl.1
Asthma (ASTHMA)1 Publication
Disease susceptibility is associated with variations affecting the gene represented in this entry.
Disease descriptionThe most common chronic disease affecting children and young adults. It is a complex genetic disorder with a heterogeneous phenotype, largely attributed to the interactions among many genes and between these genes and the environment. It is characterized by recurrent attacks of paroxysmal dyspnea, with wheezing due to spasmodic contraction of the bronchi.
See also OMIM:600807
Atopic hypersensitivity (ATOPY)1 Publication
Disease susceptibility is associated with variations affecting the gene represented in this entry.
Disease descriptionA condition characterized by predisposition to develop hypersensitivity reactions. Atopic individuals can develop eczema, allergic rhinitis and allergic asthma.
See also OMIM:147050

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi108S → A: Activity is higher than wild-type. 1 Publication1
Mutagenesisi273S → A: Loss of activity. 1 Publication1
Mutagenesisi286D → A: Almost no activity. 1 Publication1
Mutagenesisi286D → N: Diminishes activity. 1 Publication1
Mutagenesisi296D → A: Loss of activity. 1 Publication1
Mutagenesisi296D → N: Loss of activity. 1 Publication1
Mutagenesisi304D → A: No change in activity. 1 Publication1
Mutagenesisi338D → A: Activity is higher than wild-type. 1 Publication1
Mutagenesisi351H → A: Loss of activity. 1 Publication1

Keywords - Diseasei

Asthma, Disease mutation

Organism-specific databases

DisGeNETi7941.
MalaCardsiPLA2G7.
MIMi147050. phenotype.
600807. phenotype.
614278. phenotype.
OpenTargetsiENSG00000146070.
PharmGKBiPA33368.

Chemistry databases

ChEMBLiCHEMBL3514.
GuidetoPHARMACOLOGYi1432.

Polymorphism and mutation databases

BioMutaiPLA2G7.
DMDMi2497687.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 21Add BLAST21
ChainiPRO_000001783322 – 441Platelet-activating factor acetylhydrolaseAdd BLAST420

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi423N-linked (GlcNAc...)Sequence analysis1
Glycosylationi433N-linked (GlcNAc...)1

Keywords - PTMi

Glycoprotein

Proteomic databases

MaxQBiQ13093.
PaxDbiQ13093.
PeptideAtlasiQ13093.
PRIDEiQ13093.

PTM databases

iPTMnetiQ13093.
PhosphoSitePlusiQ13093.

Expressioni

Tissue specificityi

Plasma.

Gene expression databases

BgeeiENSG00000146070.
CleanExiHS_PLA2G7.
GenevisibleiQ13093. HS.

Organism-specific databases

HPAiHPA035916.

Interactioni

Protein-protein interaction databases

BioGridi113667. 1 interactor.
IntActiQ13093. 3 interactors.
STRINGi9606.ENSP00000274793.

Chemistry databases

BindingDBiQ13093.

Structurei

Secondary structure

1441
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi54 – 56Combined sources3
Beta strandi61 – 75Combined sources15
Beta strandi78 – 88Combined sources11
Beta strandi95 – 98Combined sources4
Helixi101 – 111Combined sources11
Helixi115 – 125Combined sources11
Beta strandi129 – 134Combined sources6
Beta strandi144 – 150Combined sources7
Turni157 – 160Combined sources4
Helixi161 – 169Combined sources9
Beta strandi173 – 177Combined sources5
Beta strandi184 – 189Combined sources6
Helixi193 – 198Combined sources6
Beta strandi202 – 205Combined sources4
Helixi211 – 213Combined sources3
Helixi214 – 240Combined sources27
Helixi255 – 258Combined sources4
Beta strandi262 – 272Combined sources11
Helixi274 – 285Combined sources12
Beta strandi291 – 296Combined sources6
Helixi304 – 308Combined sources5
Beta strandi314 – 319Combined sources6
Turni320 – 322Combined sources3
Helixi325 – 332Combined sources8
Beta strandi337 – 339Combined sources3
Beta strandi341 – 346Combined sources6
Helixi351 – 354Combined sources4
Helixi356 – 359Combined sources4
Helixi363 – 368Combined sources6
Helixi377 – 396Combined sources20
Helixi402 – 405Combined sources4
Helixi406 – 409Combined sources4
Beta strandi416 – 419Combined sources4

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3D59X-ray1.50A/B47-429[»]
3D5EX-ray2.10A/B47-429[»]
3F96X-ray2.10A/B47-429[»]
3F97X-ray1.70A/B47-429[»]
3F98X-ray1.70A/B/C47-429[»]
3F9CX-ray2.30A/B47-429[»]
5I8PX-ray2.37A/B47-429[»]
5I9IX-ray2.70A/B47-429[»]
5JADX-ray2.05A46-428[»]
5JAHX-ray2.06A46-428[»]
5JALX-ray2.06A46-428[»]
5JANX-ray2.12A46-428[»]
5JAOX-ray2.06A46-428[»]
5JAPX-ray2.46A46-428[»]
5JARX-ray2.11A46-428[»]
5JASX-ray2.06A46-428[»]
5JATX-ray2.04A46-428[»]
5JAUX-ray1.95A46-428[»]
ProteinModelPortaliQ13093.
SMRiQ13093.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ13093.

Family & Domainsi

Sequence similaritiesi

Belongs to the AB hydrolase superfamily. Lipase family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiKOG3847. Eukaryota.
ENOG4111FH0. LUCA.
GeneTreeiENSGT00390000005233.
HOGENOMiHOG000008053.
HOVERGENiHBG001322.
InParanoidiQ13093.
KOiK01062.
OMAiWLMGNIL.
OrthoDBiEOG091G08C2.
PhylomeDBiQ13093.
TreeFamiTF313831.

Family and domain databases

Gene3Di3.40.50.1820. 3 hits.
InterProiIPR029058. AB_hydrolase.
IPR005065. PAF_acetylhydro.
IPR016715. PAF_acetylhydro_eukaryote.
[Graphical view]
PANTHERiPTHR10272. PTHR10272. 1 hit.
PfamiPF03403. PAF-AH_p_II. 1 hit.
[Graphical view]
PIRSFiPIRSF018169. PAF_acetylhydrolase. 1 hit.
SUPFAMiSSF53474. SSF53474. 3 hits.
PROSITEiPS00120. LIPASE_SER. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

Q13093-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MVPPKLHVLF CLCGCLAVVY PFDWQYINPV AHMKSSAWVN KIQVLMAAAS
60 70 80 90 100
FGQTKIPRGN GPYSVGCTDL MFDHTNKGTF LRLYYPSQDN DRLDTLWIPN
110 120 130 140 150
KEYFWGLSKF LGTHWLMGNI LRLLFGSMTT PANWNSPLRP GEKYPLVVFS
160 170 180 190 200
HGLGAFRTLY SAIGIDLASH GFIVAAVEHR DRSASATYYF KDQSAAEIGD
210 220 230 240 250
KSWLYLRTLK QEEETHIRNE QVRQRAKECS QALSLILDID HGKPVKNALD
260 270 280 290 300
LKFDMEQLKD SIDREKIAVI GHSFGGATVI QTLSEDQRFR CGIALDAWMF
310 320 330 340 350
PLGDEVYSRI PQPLFFINSE YFQYPANIIK MKKCYSPDKE RKMITIRGSV
360 370 380 390 400
HQNFADFTFA TGKIIGHMLK LKGDIDSNVA IDLSNKASLA FLQKHLGLHK
410 420 430 440
DFDQWDCLIE GDDENLIPGT NINTTNQHIM LQNSSGIEKY N
Length:441
Mass (Da):50,077
Last modified:November 1, 1997 - v1
Checksum:i3BA9EEA9E8094A57
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04797045L → P.1 PublicationCorresponds to variant rs45521937dbSNPEnsembl.1
Natural variantiVAR_01158392R → H Common polymorphism. 2 PublicationsCorresponds to variant rs1805017dbSNPEnsembl.1
Natural variantiVAR_047971191K → N.1 PublicationCorresponds to variant rs45454695dbSNPEnsembl.1
Natural variantiVAR_011584198I → T Common polymorphism; associated with asthma and atopy. 2 PublicationsCorresponds to variant rs1805018dbSNPEnsembl.1
Natural variantiVAR_004268279V → F in PAFAD; loss of function; risk factor for coronary arthery disease and stroke. 4 PublicationsCorresponds to variant rs76863441dbSNPEnsembl.1
Natural variantiVAR_011585281Q → R in PAFAD; loss of function. 1 PublicationCorresponds to variant rs201256712dbSNPEnsembl.1
Natural variantiVAR_011586379V → A Common polymorphism. 4 PublicationsCorresponds to variant rs1051931dbSNPEnsembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U20157 mRNA. Translation: AAC50126.1.
U24577 mRNA. Translation: AAB04170.1.
EF568110 Genomic DNA. Translation: ABQ01234.1.
AL591242 Genomic DNA. Translation: CAH73907.1.
CH471081 Genomic DNA. Translation: EAX04301.1.
BC038452 mRNA. Translation: AAH38452.1.
CCDSiCCDS4917.1.
PIRiS60247.
RefSeqiNP_001161829.1. NM_001168357.1.
NP_005075.3. NM_005084.3.
XP_005249465.1. XM_005249408.4.
UniGeneiHs.584823.

Genome annotation databases

EnsembliENST00000274793; ENSP00000274793; ENSG00000146070.
ENST00000537365; ENSP00000445666; ENSG00000146070.
GeneIDi7941.
KEGGihsa:7941.
UCSCiuc010jzf.4. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Web resourcesi

SeattleSNPs

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U20157 mRNA. Translation: AAC50126.1.
U24577 mRNA. Translation: AAB04170.1.
EF568110 Genomic DNA. Translation: ABQ01234.1.
AL591242 Genomic DNA. Translation: CAH73907.1.
CH471081 Genomic DNA. Translation: EAX04301.1.
BC038452 mRNA. Translation: AAH38452.1.
CCDSiCCDS4917.1.
PIRiS60247.
RefSeqiNP_001161829.1. NM_001168357.1.
NP_005075.3. NM_005084.3.
XP_005249465.1. XM_005249408.4.
UniGeneiHs.584823.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3D59X-ray1.50A/B47-429[»]
3D5EX-ray2.10A/B47-429[»]
3F96X-ray2.10A/B47-429[»]
3F97X-ray1.70A/B47-429[»]
3F98X-ray1.70A/B/C47-429[»]
3F9CX-ray2.30A/B47-429[»]
5I8PX-ray2.37A/B47-429[»]
5I9IX-ray2.70A/B47-429[»]
5JADX-ray2.05A46-428[»]
5JAHX-ray2.06A46-428[»]
5JALX-ray2.06A46-428[»]
5JANX-ray2.12A46-428[»]
5JAOX-ray2.06A46-428[»]
5JAPX-ray2.46A46-428[»]
5JARX-ray2.11A46-428[»]
5JASX-ray2.06A46-428[»]
5JATX-ray2.04A46-428[»]
5JAUX-ray1.95A46-428[»]
ProteinModelPortaliQ13093.
SMRiQ13093.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi113667. 1 interactor.
IntActiQ13093. 3 interactors.
STRINGi9606.ENSP00000274793.

Chemistry databases

BindingDBiQ13093.
ChEMBLiCHEMBL3514.
GuidetoPHARMACOLOGYi1432.
SwissLipidsiSLP:000000204.

Protein family/group databases

ESTHERihuman-PLA2G7. PAF-Acetylhydrolase.

PTM databases

iPTMnetiQ13093.
PhosphoSitePlusiQ13093.

Polymorphism and mutation databases

BioMutaiPLA2G7.
DMDMi2497687.

Proteomic databases

MaxQBiQ13093.
PaxDbiQ13093.
PeptideAtlasiQ13093.
PRIDEiQ13093.

Protocols and materials databases

DNASUi7941.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000274793; ENSP00000274793; ENSG00000146070.
ENST00000537365; ENSP00000445666; ENSG00000146070.
GeneIDi7941.
KEGGihsa:7941.
UCSCiuc010jzf.4. human.

Organism-specific databases

CTDi7941.
DisGeNETi7941.
GeneCardsiPLA2G7.
HGNCiHGNC:9040. PLA2G7.
HPAiHPA035916.
MalaCardsiPLA2G7.
MIMi147050. phenotype.
600807. phenotype.
601690. gene.
614278. phenotype.
neXtProtiNX_Q13093.
OpenTargetsiENSG00000146070.
PharmGKBiPA33368.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3847. Eukaryota.
ENOG4111FH0. LUCA.
GeneTreeiENSGT00390000005233.
HOGENOMiHOG000008053.
HOVERGENiHBG001322.
InParanoidiQ13093.
KOiK01062.
OMAiWLMGNIL.
OrthoDBiEOG091G08C2.
PhylomeDBiQ13093.
TreeFamiTF313831.

Enzyme and pathway databases

BioCyciZFISH:HS07320-MONOMER.
BRENDAi3.1.1.4. 2681.
3.1.1.47. 2681.
ReactomeiR-HSA-422085. Synthesis, secretion, and deacylation of Ghrelin.
SABIO-RKQ13093.

Miscellaneous databases

EvolutionaryTraceiQ13093.
GeneWikiiLipoprotein-associated_phospholipase_A2.
GenomeRNAii7941.
PROiQ13093.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000146070.
CleanExiHS_PLA2G7.
GenevisibleiQ13093. HS.

Family and domain databases

Gene3Di3.40.50.1820. 3 hits.
InterProiIPR029058. AB_hydrolase.
IPR005065. PAF_acetylhydro.
IPR016715. PAF_acetylhydro_eukaryote.
[Graphical view]
PANTHERiPTHR10272. PTHR10272. 1 hit.
PfamiPF03403. PAF-AH_p_II. 1 hit.
[Graphical view]
PIRSFiPIRSF018169. PAF_acetylhydrolase. 1 hit.
SUPFAMiSSF53474. SSF53474. 3 hits.
PROSITEiPS00120. LIPASE_SER. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiPAFA_HUMAN
AccessioniPrimary (citable) accession number: Q13093
Secondary accession number(s): A5HTT5
, Q15692, Q5VTT1, Q8IVA2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: November 1, 1997
Last modified: November 2, 2016
This is version 162 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

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 6
    Human chromosome 6: 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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

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 one 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.