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UniProtKB - Q13093 (PAFA_HUMAN)

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Protein

Platelet-activating factor acetylhydrolase

Gene

PLA2G7

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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
View the complete GO annotation on QuickGO ...

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
View the complete GO annotation on QuickGO ...

Keywordsi

Molecular functionHydrolase
Biological processLipid degradation, Lipid metabolism

Enzyme and pathway databases

BRENDAi3.1.1.4 2681
3.1.1.47 2681
ReactomeiR-HSA-422085 Synthesis, secretion, and deacylation of Ghrelin
SABIO-RKiQ13093

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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 6

Organism-specific databases

EuPathDBiHostDB:ENSG00000146070.16
HGNCiHGNC:9040 PLA2G7
MIMi601690 gene
neXtProtiNX_Q13093

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

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 dbSNP:rs76863441EnsemblClinVar.1
Natural variantiVAR_011585281Q → R in PAFAD; loss of function. 1 PublicationCorresponds to variant dbSNP:rs201256712Ensembl.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
DrugBankiDB05256 659032
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...) asparagineSequence analysis1
Glycosylationi433N-linked (GlcNAc...) asparagine1

Keywords - PTMi

Glycoprotein

Proteomic databases

MaxQBiQ13093
PaxDbiQ13093
PeptideAtlasiQ13093
PRIDEiQ13093
ProteomicsDBi59145

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, 2 interactors
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

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
OMAiQPLFFIN
OrthoDBiEOG091G08C2
PhylomeDBiQ13093
TreeFamiTF313831

Family and domain databases

Gene3Di3.40.50.1820, 1 hit
InterProiView protein in InterPro
IPR029058 AB_hydrolase
IPR005065 PAF_acetylhydro-like
IPR016715 PAF_acetylhydro_eukaryote
PANTHERiPTHR10272 PTHR10272, 1 hit
PfamiView protein in Pfam
PF03403 PAF-AH_p_II, 1 hit
PIRSFiPIRSF018169 PAF_acetylhydrolase, 1 hit
SUPFAMiSSF53474 SSF53474, 3 hits
PROSITEiView protein in PROSITE
PS00120 LIPASE_SER, 1 hit

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 → P1 PublicationCorresponds to variant dbSNP:rs45521937Ensembl.1
Natural variantiVAR_01158392R → H Common polymorphism. 2 PublicationsCorresponds to variant dbSNP:rs1805017EnsemblClinVar.1
Natural variantiVAR_047971191K → N1 PublicationCorresponds to variant dbSNP:rs45454695Ensembl.1
Natural variantiVAR_011584198I → T Common polymorphism; associated with asthma and atopy. 2 PublicationsCorresponds to variant dbSNP:rs1805018EnsemblClinVar.1
Natural variantiVAR_004268279V → F in PAFAD; loss of function; risk factor for coronary arthery disease and stroke. 4 PublicationsCorresponds to variant dbSNP:rs76863441EnsemblClinVar.1
Natural variantiVAR_011585281Q → R in PAFAD; loss of function. 1 PublicationCorresponds to variant dbSNP:rs201256712Ensembl.1
Natural variantiVAR_011586379V → A Common polymorphism. 4 PublicationsCorresponds to variant dbSNP:rs1051931EnsemblClinVar.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 No translation available.
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

Similar proteinsi

Entry informationi

Entry nameiPAFA_HUMAN
AccessioniPrimary (citable) accession number: Q13093
Secondary accession number(s): A5HTT5
, Q15692, Q5VTT1, Q8IVA2
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: November 1, 1997
Last modified: June 20, 2018
This is version 171 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

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

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