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O60733 (PLPL9_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 141. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
85/88 kDa calcium-independent phospholipase A2

Short name=CaI-PLA2
EC=3.1.1.4
Alternative name(s):
Group VI phospholipase A2
Short name=GVI PLA2
Intracellular membrane-associated calcium-independent phospholipase A2 beta
Short name=iPLA2-beta
Patatin-like phospholipase domain-containing protein 9
Short name=PNPLA9
Gene names
Name:PLA2G6
Synonyms:PLPLA9
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length806 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Catalyzes the release of fatty acids from phospholipids. It has been implicated in normal phospholipid remodeling, nitric oxide-induced or vasopressin-induced arachidonic acid release and in leukotriene and prostaglandin production. May participate in fas mediated apoptosis and in regulating transmembrane ion flux in glucose-stimulated B-cells. Has a role in cardiolipin (CL) deacylation. Required for both speed and directionality of monocyte MCP1/CCL2-induced chemotaxis through regulation of F-actin polymerization at the pseudopods. Ref.11 Ref.13

Isoform ankyrin-iPLA2-1and isoform ankyrin-iPLA2-2 which lack the catalytic domain, are probably involved in the negative regulation of iPLA2 activity. Ref.11 Ref.13

Catalytic activity

Phosphatidylcholine + H2O = 1-acylglycerophosphocholine + a carboxylate.

Enzyme regulation

Inhibited by calcium-activated calmodulin By similarity.

Subunit structure

Forms large oligomeric 270-350 kDa structures.

Subcellular location

Isoform LH-iPLA2: Membrane; Peripheral membrane protein. Note: Recruited to the membrane-enriched pseudopod upon MCP1/CCL2 stimulation in monocytes. Ref.11

Isoform SH-iPLA2: Cytoplasm Ref.11.

Tissue specificity

Four different transcripts were found to be expressed in a distinct tissue distribution.

Involvement in disease

Neurodegeneration with brain iron accumulation 2B (NBIA2B) [MIM:610217]: A neurodegenerative disorder associated with iron accumulation in the brain, primarily in the basal ganglia. It is characterized by progressive extrapyramidal dysfunction leading to rigidity, dystonia, dysarthria and sensorimotor impairment.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.15

Neurodegeneration with brain iron accumulation 2A (NBIA2A) [MIM:256600]: A neurodegenerative disease characterized by pathologic axonal swelling and spheroid bodies in the central nervous system. Onset is within the first 2 years of life with death by age 10 years.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.14 Ref.15 Ref.18

Parkinson disease 14 (PARK14) [MIM:612953]: An adult-onset progressive neurodegenerative disorder characterized by parkinsonism, dystonia, severe cognitive decline, cerebral and cerebellar atrophy and absent iron in the basal ganglia on magnetic resonance imaging.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.17

Pharmaceutical use

Potential target for therapeutic intervention of Barth syndrome.

Sequence similarities

Contains 7 ANK repeats.

Contains 1 patatin domain.

Ontologies

Keywords
   Biological processChemotaxis
Lipid degradation
Lipid metabolism
   Cellular componentCytoplasm
Membrane
   Coding sequence diversityAlternative splicing
Polymorphism
   DiseaseDisease mutation
Dystonia
Neurodegeneration
Parkinsonism
   DomainANK repeat
Repeat
   LigandCalmodulin-binding
   Molecular functionHydrolase
   Technical termComplete proteome
Pharmaceutical
Reference proteome
Gene Ontology (GO)
   Biological_processFc-gamma receptor signaling pathway involved in phagocytosis

Traceable author statement. Source: Reactome

cardiolipin acyl-chain remodeling

Traceable author statement. Source: Reactome

cardiolipin biosynthetic process

Inferred from mutant phenotype Ref.13. Source: UniProtKB

cell death

Inferred from electronic annotation. Source: UniProtKB-KW

chemotaxis

Inferred from electronic annotation. Source: UniProtKB-KW

glycerophospholipid biosynthetic process

Traceable author statement. Source: Reactome

innate immune response

Traceable author statement. Source: Reactome

lipid catabolic process

Inferred from electronic annotation. Source: UniProtKB-KW

maternal process involved in female pregnancy

Inferred from electronic annotation. Source: Ensembl

memory

Inferred from electronic annotation. Source: Ensembl

negative regulation of synaptic transmission, glutamatergic

Inferred from electronic annotation. Source: Ensembl

phosphatidylcholine acyl-chain remodeling

Traceable author statement. Source: Reactome

phosphatidylethanolamine acyl-chain remodeling

Traceable author statement. Source: Reactome

phospholipid metabolic process

Traceable author statement. Source: Reactome

positive regulation of arachidonic acid secretion

Inferred from electronic annotation. Source: Ensembl

positive regulation of ceramide biosynthetic process

Inferred from electronic annotation. Source: Ensembl

positive regulation of cytosolic calcium ion concentration

Inferred from electronic annotation. Source: Ensembl

positive regulation of exocytosis

Inferred from electronic annotation. Source: Ensembl

positive regulation of insulin secretion involved in cellular response to glucose stimulus

Inferred from electronic annotation. Source: Ensembl

positive regulation of protein kinase C signaling

Inferred from electronic annotation. Source: Ensembl

positive regulation of protein phosphorylation

Inferred from electronic annotation. Source: Ensembl

positive regulation of release of cytochrome c from mitochondria

Inferred from electronic annotation. Source: Ensembl

positive regulation of vasodilation

Inferred from electronic annotation. Source: Ensembl

regulation of store-operated calcium channel activity

Inferred from electronic annotation. Source: Ensembl

response to endoplasmic reticulum stress

Inferred from electronic annotation. Source: Ensembl

small molecule metabolic process

Traceable author statement. Source: Reactome

urinary bladder smooth muscle contraction

Inferred from electronic annotation. Source: Ensembl

   Cellular_componentcytosol

Traceable author statement. Source: Reactome

membrane

Inferred from electronic annotation. Source: UniProtKB-SubCell

mitochondrion

Inferred from electronic annotation. Source: Ensembl

   Molecular_functioncalcium-independent phospholipase A2 activity

Inferred from electronic annotation. Source: Ensembl

phospholipase A2 activity

Traceable author statement Ref.1. Source: ProtInc

Complete GO annotation...

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]
Isoform LH-iPLA2 (identifier: O60733-1)

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.
Isoform SH-iPLA2 (identifier: O60733-2)

The sequence of this isoform differs from the canonical sequence as follows:
     396-450: LVTRKAILTLLRTVGAEYCFPPIHGVPAEQGSAAPHHPFSLERAQPPPISLNNLE → Q
Isoform Ankyrin-iPLA2-1 (identifier: O60733-3)

The sequence of this isoform differs from the canonical sequence as follows:
     477-479: HDH → CRT
     480-806: Missing.
Isoform Ankyrin-iPLA2-2 (identifier: O60733-4)

The sequence of this isoform differs from the canonical sequence as follows:
     71-142: Missing.
     450-499: ELQDLMHISR...GLIIIQLLIA → GSHPSQAGWW...READMQNLSP
     500-806: Missing.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 80680685/88 kDa calcium-independent phospholipase A2
PRO_0000067037

Regions

Repeat151 – 18131ANK 1
Repeat185 – 21531ANK 2
Repeat219 – 24830ANK 3
Repeat251 – 28131ANK 4
Repeat286 – 31227ANK 5
Repeat316 – 34530ANK 6
Repeat349 – 37830ANK 7
Domain481 – 665185Patatin
Region677 – 69620Calmodulin-binding By similarity
Region748 – 75912Calmodulin-binding By similarity

Sites

Active site5191 Potential

Natural variations

Alternative sequence71 – 14272Missing in isoform Ankyrin-iPLA2-2.
VSP_000277
Alternative sequence396 – 45055LVTRK…LNNLE → Q in isoform SH-iPLA2.
VSP_000278
Alternative sequence450 – 49950ELQDL…QLLIA → GSHPSQAGWWAWGAVSDGTT GSHAHLTGPEASVHPGLHEG READMQNLSP in isoform Ankyrin-iPLA2-2.
VSP_000279
Alternative sequence477 – 4793HDH → CRT in isoform Ankyrin-iPLA2-1.
VSP_000281
Alternative sequence480 – 806327Missing in isoform Ankyrin-iPLA2-1.
VSP_000282
Alternative sequence500 – 806307Missing in isoform Ankyrin-iPLA2-2.
VSP_000280
Natural variant581V → I. Ref.6
Corresponds to variant rs11570605 [ dbSNP | Ensembl ].
VAR_018961
Natural variant631R → G. Ref.6
Corresponds to variant rs11570606 [ dbSNP | Ensembl ].
VAR_018962
Natural variant701R → Q. Ref.6
Corresponds to variant rs11570607 [ dbSNP | Ensembl ].
VAR_018963
Natural variant1831D → N. Ref.6
Corresponds to variant rs11570646 [ dbSNP | Ensembl ].
VAR_018964
Natural variant3101V → E in NBIA2A. Ref.15
VAR_029371
Natural variant3431A → T. Ref.6
Corresponds to variant rs11570680 [ dbSNP | Ensembl ].
VAR_018965
Natural variant4841D → G in NBIA2A. Ref.18
VAR_070600
Natural variant5451K → T in NBIA2B. Ref.15
VAR_029372
Natural variant6321R → W in NBIA2B. Ref.15
VAR_029373
Natural variant6611T → M in NBIA2A. Ref.18
VAR_070601
Natural variant6911Missing in NBIA2A. Ref.14 Ref.15
VAR_029374
Natural variant7411R → Q in PARK14. Ref.17
VAR_062530
Natural variant7471R → W in PARK14. Ref.17
VAR_062531
Natural variant7741S → T.
Corresponds to variant rs34184838 [ dbSNP | Ensembl ].
VAR_037903

Experimental info

Sequence conflict111F → S in AAD30424. Ref.3
Sequence conflict641N → D in AAD41722. Ref.2
Sequence conflict641N → D in AAD41723. Ref.2
Sequence conflict5791K → I in AAD30424. Ref.3
Sequence conflict6861K → I in AAD30424. Ref.3
Sequence conflict8011Q → H in AAC97486. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Isoform LH-iPLA2 [UniParc].

Last modified May 30, 2000. Version 2.
Checksum: 8E55CD4EB9ACAD8B

FASTA80689,903
        10         20         30         40         50         60 
MQFFGRLVNT FSGVTNLFSN PFRVKEVAVA DYTSSDRVRE EGQLILFQNT PNRTWDCVLV 

        70         80         90        100        110        120 
NPRNSQSGFR LFQLELEADA LVNFHQYSSQ LLPFYESSPQ VLHTEVLQHL TDLIRNHPSW 

       130        140        150        160        170        180 
SVAHLAVELG IRECFHHSRI ISCANCAENE EGCTPLHLAC RKGDGEILVE LVQYCHTQMD 

       190        200        210        220        230        240 
VTDYKGETVF HYAVQGDNSQ VLQLLGRNAV AGLNQVNNQG LTPLHLACQL GKQEMVRVLL 

       250        260        270        280        290        300 
LCNARCNIMG PNGYPIHSAM KFSQKGCAEM IISMDSSQIH SKDPRYGASP LHWAKNAEMA 

       310        320        330        340        350        360 
RMLLKRGCNV NSTSSAGNTA LHVAVMRNRF DCAIVLLTHG ANADARGEHG NTPLHLAMSK 

       370        380        390        400        410        420 
DNVEMIKALI VFGAEVDTPN DFGETPTFLA SKIGRLVTRK AILTLLRTVG AEYCFPPIHG 

       430        440        450        460        470        480 
VPAEQGSAAP HHPFSLERAQ PPPISLNNLE LQDLMHISRA RKPAFILGSM RDEKRTHDHL 

       490        500        510        520        530        540 
LCLDGGGVKG LIIIQLLIAI EKASGVATKD LFDWVAGTST GGILALAILH SKSMAYMRGM 

       550        560        570        580        590        600 
YFRMKDEVFR GSRPYESGPL EEFLKREFGE HTKMTDVRKP KVMLTGTLSD RQPAELHLFR 

       610        620        630        640        650        660 
NYDAPETVRE PRFNQNVNLR PPAQPSDQLV WRAARSSGAA PTYFRPNGRF LDGGLLANNP 

       670        680        690        700        710        720 
TLDAMTEIHE YNQDLIRKGQ ANKVKKLSIV VSLGTGRSPQ VPVTCVDVFR PSNPWELAKT 

       730        740        750        760        770        780 
VFGAKELGKM VVDCCTDPDG RAVDRARAWC EMVGIQYFRL NPQLGTDIML DEVSDTVLVN 

       790        800 
ALWETEVYIY EHREEFQKLI QLLLSP 

« Hide

Isoform SH-iPLA2 [UniParc].

Checksum: F1C46C9380332E1D
Show »

FASTA75284,093
Isoform Ankyrin-iPLA2-1 [UniParc].

Checksum: 2C849808049DD065
Show »

FASTA47953,216
Isoform Ankyrin-iPLA2-2 [UniParc].

Checksum: 52DAEBA2EDDC4C31
Show »

FASTA42746,484

References

« Hide 'large scale' references
[1]"Multiple splice variants of the human calcium-independent phospholipase A2 and their effect on enzyme activity."
Larsson P.K.A., Claesson H.-E., Kennedy B.P.
J. Biol. Chem. 273:207-214(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS LH-IPLA2; ANKYRIN-IPLA2-1 AND ANKYRIN-IPLA2-2).
Tissue: B-cell and Testis.
[2]"Human pancreatic islets express mRNA species encoding two distinct catalytically active isoforms of group VI phospholipase A2 (iPLA2) that arise from an exon-skipping mechanism of alternative splicing of the transcript from the iPLA2 gene on chromosome 22q13.1."
Ma Z., Wang X., Nowatzke W., Ramanadham S., Turk J.
J. Biol. Chem. 274:9607-9616(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORMS LH-IPLA2 AND SH-IPLA2).
Tissue: Pancreatic islet.
[3]"The human calcium-independent phospholipase A2 gene. Multiple enzymes with distinct properties from a single gene."
Larsson Forsell P.K.A., Kennedy B.P., Claesson H.-E.
Eur. J. Biochem. 262:575-585(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], ALTERNATIVE SPLICING.
[4]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM LH-IPLA2).
Tissue: Testis.
[5]"A genome annotation-driven approach to cloning the human ORFeome."
Collins J.E., Wright C.L., Edwards C.A., Davis M.P., Grinham J.A., Cole C.G., Goward M.E., Aguado B., Mallya M., Mokrab Y., Huckle E.J., Beare D.M., Dunham I.
Genome Biol. 5:R84.1-R84.11(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM LH-IPLA2).
[6]NIEHS SNPs program
Submitted (JAN-2004) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS ILE-58; GLY-63; GLN-70; ASN-183 AND THR-343.
[7]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM LH-IPLA2).
[8]"The DNA sequence of human chromosome 22."
Dunham I., Hunt A.R., Collins J.E., Bruskiewich R., Beare D.M., Clamp M., Smink L.J., Ainscough R., Almeida J.P., Babbage A.K., Bagguley C., Bailey J., Barlow K.F., Bates K.N., Beasley O.P., Bird C.P., Blakey S.E., Bridgeman A.M. expand/collapse author list , Buck D., Burgess J., Burrill W.D., Burton J., Carder C., Carter N.P., Chen Y., Clark G., Clegg S.M., Cobley V.E., Cole C.G., Collier R.E., Connor R., Conroy D., Corby N.R., Coville G.J., Cox A.V., Davis J., Dawson E., Dhami P.D., Dockree C., Dodsworth S.J., Durbin R.M., Ellington A.G., Evans K.L., Fey J.M., Fleming K., French L., Garner A.A., Gilbert J.G.R., Goward M.E., Grafham D.V., Griffiths M.N.D., Hall C., Hall R.E., Hall-Tamlyn G., Heathcott R.W., Ho S., Holmes S., Hunt S.E., Jones M.C., Kershaw J., Kimberley A.M., King A., Laird G.K., Langford C.F., Leversha M.A., Lloyd C., Lloyd D.M., Martyn I.D., Mashreghi-Mohammadi M., Matthews L.H., Mccann O.T., Mcclay J., Mclaren S., McMurray A.A., Milne S.A., Mortimore B.J., Odell C.N., Pavitt R., Pearce A.V., Pearson D., Phillimore B.J.C.T., Phillips S.H., Plumb R.W., Ramsay H., Ramsey Y., Rogers L., Ross M.T., Scott C.E., Sehra H.K., Skuce C.D., Smalley S., Smith M.L., Soderlund C., Spragon L., Steward C.A., Sulston J.E., Swann R.M., Vaudin M., Wall M., Wallis J.M., Whiteley M.N., Willey D.L., Williams L., Williams S.A., Williamson H., Wilmer T.E., Wilming L., Wright C.L., Hubbard T., Bentley D.R., Beck S., Rogers J., Shimizu N., Minoshima S., Kawasaki K., Sasaki T., Asakawa S., Kudoh J., Shintani A., Shibuya K., Yoshizaki Y., Aoki N., Mitsuyama S., Roe B.A., Chen F., Chu L., Crabtree J., Deschamps S., Do A., Do T., Dorman A., Fang F., Fu Y., Hu P., Hua A., Kenton S., Lai H., Lao H.I., Lewis J., Lewis S., Lin S.-P., Loh P., Malaj E., Nguyen T., Pan H., Phan S., Qi S., Qian Y., Ray L., Ren Q., Shaull S., Sloan D., Song L., Wang Q., Wang Y., Wang Z., White J., Willingham D., Wu H., Yao Z., Zhan M., Zhang G., Chissoe S., Murray J., Miller N., Minx P., Fulton R., Johnson D., Bemis G., Bentley D., Bradshaw H., Bourne S., Cordes M., Du Z., Fulton L., Goela D., Graves T., Hawkins J., Hinds K., Kemp K., Latreille P., Layman D., Ozersky P., Rohlfing T., Scheet P., Walker C., Wamsley A., Wohldmann P., Pepin K., Nelson J., Korf I., Bedell J.A., Hillier L.W., Mardis E., Waterston R., Wilson R., Emanuel B.S., Shaikh T., Kurahashi H., Saitta S., Budarf M.L., McDermid H.E., Johnson A., Wong A.C.C., Morrow B.E., Edelmann L., Kim U.J., Shizuya H., Simon M.I., Dumanski J.P., Peyrard M., Kedra D., Seroussi E., Fransson I., Tapia I., Bruder C.E., O'Brien K.P., Wilkinson P., Bodenteich A., Hartman K., Hu X., Khan A.S., Lane L., Tilahun Y., Wright H.
Nature 402:489-495(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[9]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[10]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS LH-IPLA2 AND SH-IPLA2).
Tissue: Brain.
[11]"iPLA2beta: front and center in human monocyte chemotaxis to MCP-1."
Mishra R.S., Carnevale K.A., Cathcart M.K.
J. Exp. Med. 205:347-359(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION IN CHEMOTAXIS, SUBCELLULAR LOCATION.
[12]"Mammalian patatin domain containing proteins: a family with diverse lipolytic activities involved in multiple biological functions."
Kienesberger P.C., Oberer M., Lass A., Zechner R.
J. Lipid Res. 50:S63-S68(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: REVIEW ON FAMILY.
[13]"Role of calcium-independent phospholipase A2 in the pathogenesis of Barth syndrome."
Malhotra A., Edelman-Novemsky I., Xu Y., Plesken H., Ma J., Schlame M., Ren M.
Proc. Natl. Acad. Sci. U.S.A. 106:2337-2341(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, PHARMACEUTICAL USE.
[14]"PLA2G6 mutation underlies infantile neuroaxonal dystrophy."
Khateeb S., Flusser H., Ofir R., Shelef I., Narkis G., Vardi G., Shorer Z., Levy R., Galil A., Elbedour K., Birk O.S.
Am. J. Hum. Genet. 79:942-948(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT NBIA2A VAL-691 DEL.
[15]"PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron."
Morgan N.V., Westaway S.K., Morton J.E., Gregory A., Gissen P., Sonek S., Cangul H., Coryell J., Canham N., Nardocci N., Zorzi G., Pasha S., Rodriguez D., Desguerre I., Mubaidin A., Bertini E., Trembath R.C., Simonati A. expand/collapse author list , Schanen C., Johnson C.A., Levinson B., Woods C.G., Wilmot B., Kramer P., Gitschier J., Maher E.R., Hayflick S.J.
Nat. Genet. 38:752-754(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS NBIA2B THR-545 AND TRP-632, VARIANTS NBIA2A GLU-310 AND VAL-691 DEL.
[16]Erratum
Morgan N.V., Westaway S.K., Morton J.E., Gregory A., Gissen P., Sonek S., Cangul H., Coryell J., Canham N., Nardocci N., Zorzi G., Pasha S., Rodriguez D., Desguerre I., Mubaidin A., Bertini E., Trembath R.C., Simonati A. expand/collapse author list , Schanen C., Johnson C.A., Levinson B., Woods C.G., Wilmot B., Kramer P., Gitschier J., Maher E.R., Hayflick S.J.
Nat. Genet. 38:957-957(2006)
[17]"Characterization of PLA2G6 as a locus for dystonia-parkinsonism."
Paisan-Ruiz C., Bhatia K.P., Li A., Hernandez D., Davis M., Wood N.W., Hardy J., Houlden H., Singleton A., Schneider S.A.
Ann. Neurol. 65:19-23(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS PARK14 GLN-741 AND TRP-747.
[18]"Recessive truncating NALCN mutation in infantile neuroaxonal dystrophy with facial dysmorphism."
Koeroglu C., Seven M., Tolun A.
J. Med. Genet. 50:515-520(2013) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS NBIA2A GLY-484 AND MET-661.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF064594 mRNA. Translation: AAC97486.1.
AF102988 mRNA. Translation: AAD41722.1.
AF102989 mRNA. Translation: AAD41723.1.
AF117692 expand/collapse EMBL AC list , AF117677, AF117678, AF117679, AF117680, AF117681, AF117682, AF117683, AF117684, AF117685, AF117686, AF117687, AF117688, AF117689, AF117690, AF117691 Genomic DNA. Translation: AAD30424.1.
AF116267 expand/collapse EMBL AC list , AF116252, AF116253, AF116254, AF116255, AF116256, AF116257, AF116258, AF116259, AF116260, AF116261, AF116262, AF116263, AF116264, AF116265, AF116266 Genomic DNA. Translation: AAF34728.1.
AL080187 mRNA. Translation: CAB45768.2.
CR456543 mRNA. Translation: CAG30429.1.
AY522921 Genomic DNA. Translation: AAR92478.1.
AK291212 mRNA. Translation: BAF83901.1.
AL022322 Genomic DNA. Translation: CAA18446.1.
AL022322 Genomic DNA. Translation: CAQ10446.1.
CH471095 Genomic DNA. Translation: EAW60219.1.
CH471095 Genomic DNA. Translation: EAW60220.1.
BC036742 mRNA. Translation: AAH36742.2.
BC051904 mRNA. Translation: AAH51904.1.
RefSeqNP_001004426.1. NM_001004426.1.
NP_001186491.1. NM_001199562.1.
NP_003551.2. NM_003560.2.
XP_005261821.1. XM_005261764.1.
XP_005261822.1. XM_005261765.1.
XP_005261823.1. XM_005261766.1.
UniGeneHs.170479.

3D structure databases

ProteinModelPortalO60733.
SMRO60733. Positions 121-427.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid113986. 2 interactions.
STRING9606.ENSP00000333142.

Chemistry

BindingDBO60733.
ChEMBLCHEMBL3213.
DrugBankDB01103. Quinacrine.

PTM databases

PhosphoSiteO60733.

Proteomic databases

PaxDbO60733.
PRIDEO60733.

Protocols and materials databases

DNASU8398.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000332509; ENSP00000333142; ENSG00000184381. [O60733-1]
ENST00000335539; ENSP00000335149; ENSG00000184381. [O60733-2]
ENST00000402064; ENSP00000386100; ENSG00000184381. [O60733-2]
GeneID8398.
KEGGhsa:8398.
UCSCuc003auy.1. human. [O60733-1]
uc003auz.1. human. [O60733-2]

Organism-specific databases

CTD8398.
GeneCardsGC22M038507.
HGNCHGNC:9039. PLA2G6.
HPAHPA001171.
MIM256600. phenotype.
603604. gene.
610217. phenotype.
612953. phenotype.
neXtProtNX_O60733.
Orphanet199351. Adult-onset dystonia-parkinsonism.
35069. Infantile neuroaxonal dystrophy.
PharmGKBPA33367.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG0666.
HOVERGENHBG053482.
InParanoidO60733.
KOK16343.
OMAPTYFRPN.
OrthoDBEOG76T9QK.
PhylomeDBO60733.
TreeFamTF319230.

Enzyme and pathway databases

ReactomeREACT_111217. Metabolism.
REACT_6900. Immune System.

Gene expression databases

ArrayExpressO60733.
BgeeO60733.
CleanExHS_PLA2G6.
GenevestigatorO60733.

Family and domain databases

Gene3D1.25.40.20. 2 hits.
InterProIPR016035. Acyl_Trfase/lysoPLipase.
IPR002110. Ankyrin_rpt.
IPR020683. Ankyrin_rpt-contain_dom.
IPR002641. Patatin/PLipase_A2-rel.
[Graphical view]
PfamPF00023. Ank. 4 hits.
PF01734. Patatin. 1 hit.
[Graphical view]
PRINTSPR01415. ANKYRIN.
SMARTSM00248. ANK. 6 hits.
[Graphical view]
SUPFAMSSF48403. SSF48403. 1 hit.
SSF52151. SSF52151. 1 hit.
PROSITEPS50297. ANK_REP_REGION. 1 hit.
PS50088. ANK_REPEAT. 4 hits.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSPLA2G6. human.
GeneWikiPLA2G6.
GenomeRNAi8398.
NextBio31428.
PMAP-CutDBO60733.
PROO60733.
SOURCESearch...

Entry information

Entry namePLPL9_HUMAN
AccessionPrimary (citable) accession number: O60733
Secondary accession number(s): A8K597 expand/collapse secondary AC list , B0QYE8, O75645, Q8N452, Q9UG29, Q9UIT0, Q9Y671
Entry history
Integrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: May 30, 2000
Last modified: April 16, 2014
This is version 141 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 22

Human chromosome 22: entries, gene names and cross-references to MIM